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Gene: DLAT (dihydrolipoamide S-acetyltransferase) Homo sapiens

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Symbol:

DLAT

Name:

dihydrolipoamide S-acetyltransferase

RGD ID:

735273

HGNC Page

HGNC:2896

Description:

Enables dihydrolipoyllysine-residue acetyltransferase activity and identical protein binding activity. Contributes to pyruvate dehydrogenase (NAD+) activity. Involved in pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion. Part of pyruvate dehydrogenase complex. Implicated in pyruvate decarboxylase deficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

70 kDa mitochondrial autoantigen of primary biliary cirrhosis; dihydrolipoamide acetyltransferase; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; DLTA; E2; E2 component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; PBC; PDC-E2; PDCE2; pyruvate dehydrogenase complex component E2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Dlat (dihydrolipoamide S-acetyltransferase)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Dlat (dihydrolipoamide S-acetyltransferase)	HGNC	Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Dlat (dihydrolipoamide S-acetyltransferase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DLAT (dihydrolipoamide S-acetyltransferase)	NCBI	Ortholog
Canis lupus familiaris (dog):	DLAT (dihydrolipoamide S-acetyltransferase)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Dlat (dihydrolipoamide S-acetyltransferase)	NCBI	Ortholog
Sus scrofa (pig):	DLAT (dihydrolipoamide S-acetyltransferase)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	DLAT (dihydrolipoamide S-acetyltransferase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Dlat (dihydrolipoamide S-acetyltransferase)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Dlat-ps1 (dihydrolipoamide S-acetyltransferase, pseudogene 1)	HGNC	Ensembl
Rattus norvegicus (Norway rat):	Musk (muscle associated receptor tyrosine kinase)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Dlat (dihydrolipoamide S-acetyltransferase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Dlat (dihydrolipoamide S-acetyltransferase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	dlat (dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	LAT1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	dlat-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	muc	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	dlat	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	dlat.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	112,025,033 - 112,064,404 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	111,896,132 - 111,935,128 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	111,401,381 - 111,439,799 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	111,401,387 - 111,439,798	NCBI
Celera	11	109,048,752 - 109,088,192 (+)	NCBI		Celera
Cytogenetic Map	11	q23.1	NCBI
HuRef	11	107,819,561 - 107,858,905 (+)	NCBI		HuRef
CHM1_1	11	111,778,793 - 111,818,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	Sleep Deprivation		ISO	Dlat (Rattus norvegicus)	2313667	mRNA:decreased expression:cerebral cortex	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	ataxia telangiectasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	ClinVar	PMID:23807571 more ...
DLAT	Human	BH4-deficient hyperphenylalaninemia A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A	ClinVar	PMID:28492532
DLAT	Human	Carney-Stratakis syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carney-Stratakis syndrome	ClinVar	PMID:15531530 and PMID:28492532
DLAT	Human	Carney-Stratakis syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carney-Stratakis syndrome	ClinVar	PMID:19351833 more ...
DLAT	Human	Carney-Stratakis syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carney-Stratakis syndrome	ClinVar	PMID:19454582 more ...
DLAT	Human	Carney-Stratakis syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carney-Stratakis syndrome	ClinVar	PMID:28492532
DLAT	Human	chromosome 11 partial duplication syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Distal trisomy 11q	ClinVar	PMID:25741868
DLAT	Human	congenital disorder of glycosylation Il		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation	ClinVar	PMID:25966638 and PMID:28492532
DLAT	Human	dilated cardiomyopathy 1II		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1II	ClinVar	PMID:28492532
DLAT	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532 and PMID:29093066
DLAT	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
DLAT	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
DLAT	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
DLAT	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DLAT	Human	prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malignant tumor of prostate	ClinVar	PMID:23265383
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:25741868 and PMID:28492532
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:25741868
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:28492532
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:17576681 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:16199547 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:20022530 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:16199547 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:20022530 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:28492532 and PMID:29093066
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:20022530 and PMID:28492532
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:16049940 and PMID:25741868
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:20022530 more ...
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:28492532
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	ClinVar	PMID:16049940

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	Chemical and Drug Induced Liver Injury		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25231249
DLAT	Human	Myocardial Ischemia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16214533
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	Pyruvate Dehydrogenase E2 Deficiency		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of DLAT mRNA	CTD	PMID:36331819
DLAT	Human	(R)-adrenaline	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	[Epinephrine co-treated with Xanthine co-treated with XDH] results in decreased expression of DLAT protein	CTD	PMID:19464573
DLAT	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DLAT mRNA	CTD	PMID:22206623
DLAT	Human	1,2-dimethylhydrazine	decreases expression	ISO	Dlat (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of DLAT mRNA	CTD	PMID:22206623
DLAT	Human	17alpha-ethynylestradiol	affects expression	ISO	Dlat (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of DLAT mRNA	CTD	PMID:17555576
DLAT	Human	17alpha-ethynylestradiol	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Ethinyl Estradiol results in increased expression of DLAT mRNA	CTD	PMID:16174780
DLAT	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of DLAT mRNA	CTD	PMID:17942748
DLAT	Human	17alpha-ethynylestradiol	decreases expression	ISO	Dlat (Mus musculus)	6480464	Ethinyl Estradiol results in decreased expression of DLAT mRNA	CTD	PMID:16174780 and PMID:17942748
DLAT	Human	17beta-estradiol	decreases expression	ISO	Dlat (Mus musculus)	6480464	Estradiol results in decreased expression of DLAT mRNA	CTD	PMID:19484750 and PMID:39298647
DLAT	Human	2,2,2-tetramine	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	Trientine inhibits the reaction [Streptozocin results in increased expression of DLAT protein]	CTD	PMID:21136691
DLAT	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of DLAT mRNA and [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of DLAT mRNA	CTD	PMID:16214954 and PMID:17942748
DLAT	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of DLAT mRNA	CTD	PMID:20959002
DLAT	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Dlat (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of DLAT mRNA	CTD	PMID:21570461
DLAT	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Dlat (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of DLAT mRNA	CTD	PMID:22298810
DLAT	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Dlat (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of DLAT mRNA	CTD	PMID:18796159
DLAT	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Furaldehyde co-treated with pyrogallol 1 more ...	CTD	PMID:38598786
DLAT	Human	2,6-dinitrotoluene	affects expression	ISO	Dlat (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of DLAT mRNA	CTD	PMID:21346803
DLAT	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of DLAT mRNA	CTD	PMID:21179406
DLAT	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of DLAT mRNA	CTD	PMID:37199045
DLAT	Human	3,3',4,4',5-pentachlorobiphenyl	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	3 more ...	CTD	PMID:20959002
DLAT	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Dlat (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of DLAT mRNA	CTD	PMID:18648102
DLAT	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of DLAT mRNA and bisphenol S results in increased expression of DLAT protein	CTD	PMID:31121516 and PMID:34186270
DLAT	Human	4,4'-sulfonyldiphenol	increases methylation	EXP		6480464	bisphenol S results in increased methylation of DLAT gene	CTD	PMID:31601247
DLAT	Human	4-amino-2,6-dinitrotoluene	affects expression	ISO	Dlat (Rattus norvegicus)	6480464	4-amino-2 and 6-dinitrotoluene affects the expression of DLAT mRNA	CTD	PMID:21346803
DLAT	Human	5-aza-2'-deoxycytidine	affects expression	EXP		6480464	Decitabine affects the expression of DLAT mRNA	CTD	PMID:23300844
DLAT	Human	7H-xanthine	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	[Epinephrine co-treated with Xanthine co-treated with XDH] results in decreased expression of DLAT protein	CTD	PMID:19464573
DLAT	Human	9H-xanthine	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	[Epinephrine co-treated with Xanthine co-treated with XDH] results in decreased expression of DLAT protein	CTD	PMID:19464573
DLAT	Human	acetamide	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	acetamide results in decreased expression of DLAT mRNA	CTD	PMID:31881176
DLAT	Human	aflatoxin B1	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	[sulforaphane co-treated with Aflatoxin B1] affects the expression of DLAT mRNA	CTD	PMID:25450479
DLAT	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of DLAT mRNA	CTD	PMID:33167477
DLAT	Human	ammonium chloride	affects expression	ISO	Dlat (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of DLAT mRNA	CTD	PMID:16483693
DLAT	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of DLAT mRNA	CTD	PMID:33212167
DLAT	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to DLAT protein]	CTD	PMID:32406909
DLAT	Human	benzatropine	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of DLAT protein	CTD	PMID:34122009
DLAT	Human	benzatropine	increases expression	EXP		6480464	Benztropine results in increased expression of DLAT protein	CTD	PMID:34122009
DLAT	Human	benzo[a]pyrene	multiple interactions	ISO	Dlat (Mus musculus)	6480464	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of DLAT mRNA]	CTD	PMID:22228805
DLAT	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of DLAT promoter	CTD	PMID:27901495
DLAT	Human	benzo[a]pyrene	decreases expression	ISO	Dlat (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of DLAT mRNA	CTD	PMID:22228805
DLAT	Human	bexarotene	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	bexarotene results in increased expression of DLAT mRNA	CTD	PMID:16648578
DLAT	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Dlat (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of DLAT mRNA	CTD	PMID:30284816
DLAT	Human	bisphenol A	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	bisphenol A results in increased expression of DLAT mRNA	CTD	PMID:25181051
DLAT	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of DLAT protein	CTD	PMID:31675489 and PMID:34186270
DLAT	Human	bisphenol A	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of DLAT mRNA	CTD	PMID:34947998
DLAT	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of DLAT protein	CTD	PMID:37567409
DLAT	Human	bisphenol A	increases expression	ISO	Dlat (Mus musculus)	6480464	bisphenol A results in increased expression of DLAT mRNA	CTD	PMID:33221593
DLAT	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of DLAT protein	CTD	PMID:34186270
DLAT	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of DLAT protein	CTD	PMID:34186270
DLAT	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of DLAT protein	CTD	PMID:34186270
DLAT	Human	bisphenol F	increases expression	ISO	Dlat (Mus musculus)	6480464	bisphenol F results in increased expression of DLAT mRNA	CTD	PMID:38685157
DLAT	Human	bleomycin A2	decreases expression	ISO	Dlat (Mus musculus)	6480464	Bleomycin results in decreased expression of DLAT protein	CTD	PMID:29733421
DLAT	Human	Brodifacoum	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	bromfenacoum results in increased expression of DLAT protein	CTD	PMID:28903499
DLAT	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of DLAT mRNA	CTD	PMID:35301059
DLAT	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of DLAT mRNA	CTD	PMID:38568856
DLAT	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of DLAT mRNA	CTD	PMID:35301059
DLAT	Human	carbon nanotube	decreases expression	ISO	Dlat (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25620056
DLAT	Human	cisplatin	affects expression	EXP		6480464	Cisplatin affects the expression of DLAT mRNA	CTD	PMID:23300844
DLAT	Human	clozapine	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Clozapine results in decreased expression of DLAT mRNA	CTD	PMID:15860345
DLAT	Human	clozapine	increases expression	EXP		6480464	Clozapine results in increased expression of DLAT protein	CTD	PMID:34122009
DLAT	Human	copper(II) chloride	multiple interactions	EXP		6480464	[elesclomol co-treated with cupric chloride] results in decreased expression of DLAT protein	CTD	PMID:39306268
DLAT	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of DLAT mRNA	CTD	PMID:19549813
DLAT	Human	coumestrol	increases expression	EXP		6480464	Coumestrol results in increased expression of DLAT mRNA	CTD	PMID:19167446
DLAT	Human	Cuprizon	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of DLAT protein	CTD	PMID:34122009
DLAT	Human	decabromodiphenyl ether	increases expression	EXP		6480464	decabromobiphenyl ether results in increased expression of DLAT protein	CTD	PMID:31675489
DLAT	Human	deguelin	increases expression	EXP		6480464	deguelin results in increased expression of DLAT mRNA	CTD	PMID:33512557
DLAT	Human	dexamethasone	increases expression	EXP		6480464	Dexamethasone results in increased expression of DLAT mRNA	CTD	PMID:25047013
DLAT	Human	diethylstilbestrol	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Diethylstilbestrol results in decreased expression of DLAT mRNA	CTD	PMID:37077353
DLAT	Human	dinophysistoxin 1	increases expression	EXP		6480464	dinophysistoxin 1 results in increased expression of DLAT mRNA	CTD	PMID:28939011
DLAT	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of DLAT mRNA	CTD	PMID:27188386
DLAT	Human	doxorubicin	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Doxorubicin results in decreased expression of DLAT mRNA	CTD	PMID:19915844
DLAT	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of DLAT mRNA	CTD	PMID:29803840
DLAT	Human	doxorubicin	decreases expression	ISO	Dlat (Mus musculus)	6480464	Doxorubicin results in decreased expression of DLAT mRNA	CTD	PMID:26873546
DLAT	Human	elesclomol	multiple interactions	EXP		6480464	[elesclomol co-treated with cupric chloride] results in decreased expression of DLAT protein	CTD	PMID:39306268
DLAT	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of DLAT protein	CTD	PMID:23301498
DLAT	Human	epoxiconazole	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	epoxiconazole results in increased expression of DLAT mRNA	CTD	PMID:29038839
DLAT	Human	ethanol	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Ethanol results in increased expression of DLAT mRNA and Ethanol results in increased expression of DLAT protein	CTD	PMID:15353170 and PMID:19609968
DLAT	Human	ethanol	affects splicing	ISO	Dlat (Mus musculus)	6480464	Ethanol affects the splicing of DLAT mRNA	CTD	PMID:30319688
DLAT	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of DLAT mRNA	CTD	PMID:23649840
DLAT	Human	flutamide	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Flutamide results in increased expression of DLAT mRNA	CTD	PMID:24136188
DLAT	Human	folic acid	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DLAT mRNA	CTD	PMID:22206623
DLAT	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of DLAT mRNA	CTD	PMID:23649840
DLAT	Human	furfural	multiple interactions	EXP		6480464	[Furaldehyde co-treated with pyrogallol 1 and 3-dimethyl ether] results in increased expression of DLAT protein	CTD	PMID:38598786
DLAT	Human	haloperidol	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Haloperidol results in decreased expression of DLAT mRNA	CTD	PMID:15860345
DLAT	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in decreased expression of DLAT mRNA	CTD	PMID:17183730
DLAT	Human	isoprenaline	decreases expression	ISO	Dlat (Mus musculus)	6480464	Isoproterenol results in decreased expression of DLAT mRNA	CTD	PMID:21335049
DLAT	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of DLAT protein	CTD	PMID:32959892
DLAT	Human	ketoconazole	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Ketoconazole results in decreased expression of DLAT mRNA	CTD	PMID:37077353
DLAT	Human	metformin	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Metformin results in increased expression of DLAT mRNA	CTD	PMID:31324951
DLAT	Human	methamphetamine	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Methamphetamine results in decreased expression of DLAT protein	CTD	PMID:19826936
DLAT	Human	methapyrilene	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Methapyrilene results in decreased expression of DLAT protein	CTD	PMID:30467583
DLAT	Human	methotrexate	increases expression	EXP		6480464	Methotrexate results in increased expression of DLAT mRNA	CTD	PMID:17400583
DLAT	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of DLAT mRNA	CTD	PMID:23649840
DLAT	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of DLAT mRNA	CTD	PMID:23179753 and PMID:26272509
DLAT	Human	methylmercury chloride	multiple interactions	EXP		6480464	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of DLAT mRNA	CTD	PMID:27188386
DLAT	Human	nitrates	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of DLAT mRNA	CTD	PMID:35964746
DLAT	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of DLAT mRNA	CTD	PMID:28939011
DLAT	Human	paracetamol	affects expression	ISO	Dlat (Mus musculus)	6480464	Acetaminophen affects the expression of DLAT mRNA	CTD	PMID:17562736
DLAT	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of DLAT mRNA	CTD	PMID:21420995 and PMID:25704631
DLAT	Human	pentachlorophenol	decreases expression	ISO	Dlat (Mus musculus)	6480464	Pentachlorophenol results in decreased expression of DLAT mRNA	CTD	PMID:23892564
DLAT	Human	perfluorododecanoic acid	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	perfluorododecanoic acid results in increased expression of DLAT protein	CTD	PMID:26168851
DLAT	Human	perfluorooctane-1-sulfonic acid	affects expression	ISO	Dlat (Mus musculus)	6480464	perfluorooctane sulfonic acid affects the expression of DLAT mRNA	CTD	PMID:19429403
DLAT	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of DLAT mRNA	CTD	PMID:36331819
DLAT	Human	perfluorooctanoic acid	affects expression	ISO	Dlat (Mus musculus)	6480464	perfluorooctanoic acid affects the expression of DLAT mRNA	CTD	PMID:19429403
DLAT	Human	perfluorooctanoic acid	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	perfluorooctanoic acid results in increased expression of DLAT mRNA	CTD	PMID:19162173
DLAT	Human	phenobarbital	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Phenobarbital results in increased expression of DLAT mRNA	CTD	PMID:19162173
DLAT	Human	phenobarbital	affects expression	ISO	Dlat (Mus musculus)	6480464	Phenobarbital affects the expression of DLAT mRNA	CTD	PMID:23091169
DLAT	Human	pirinixic acid	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	pirinixic acid results in increased expression of DLAT mRNA	CTD	PMID:19162173
DLAT	Human	pirinixic acid	increases expression	ISO	Dlat (Mus musculus)	6480464	pirinixic acid results in increased expression of DLAT mRNA	CTD	PMID:16985257 more ...
DLAT	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Pregnenolone Carbonitrile results in increased expression of DLAT mRNA	CTD	PMID:19162173
DLAT	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Dlat (Mus musculus)	6480464	Pregnenolone Carbonitrile results in increased expression of DLAT mRNA	CTD	PMID:28903501
DLAT	Human	resveratrol	increases expression	ISO	Dlat (Mus musculus)	6480464	resveratrol results in increased expression of DLAT protein	CTD	PMID:25505154
DLAT	Human	rotenone	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Rotenone results in decreased expression of DLAT mRNA	CTD	PMID:28374803
DLAT	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of DLAT mRNA	CTD	PMID:33512557
DLAT	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386 and PMID:37664457
DLAT	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of DLAT mRNA	CTD	PMID:38568856
DLAT	Human	sodium arsenite	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	sodium arsenite results in increased expression of DLAT protein	CTD	PMID:29459688
DLAT	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1 and 3-dimethyl ether] results in increased expression of DLAT protein	CTD	PMID:38598786
DLAT	Human	streptozocin	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	Trientine inhibits the reaction [Streptozocin results in increased expression of DLAT protein]	CTD	PMID:21136691
DLAT	Human	streptozocin	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Streptozocin results in increased expression of DLAT protein	CTD	PMID:21136691
DLAT	Human	succimer	multiple interactions	ISO	Dlat (Mus musculus)	6480464	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of DLAT mRNA	CTD	PMID:21641980
DLAT	Human	sulforaphane	multiple interactions	ISO	Dlat (Rattus norvegicus)	6480464	[sulforaphane co-treated with Aflatoxin B1] affects the expression of DLAT mRNA	CTD	PMID:25450479
DLAT	Human	sulforaphane	increases expression	ISO	Dlat (Mus musculus)	6480464	sulforaphane results in increased expression of DLAT mRNA	CTD	PMID:30529165
DLAT	Human	tamoxifen	affects expression	ISO	Dlat (Mus musculus)	6480464	Tamoxifen affects the expression of DLAT mRNA	CTD	PMID:17555576
DLAT	Human	tetrachloromethane	decreases expression	ISO	Dlat (Mus musculus)	6480464	Carbon Tetrachloride results in decreased expression of DLAT mRNA	CTD	PMID:31919559
DLAT	Human	thioacetamide	increases expression	ISO	Dlat (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of DLAT mRNA	CTD	PMID:34492290
DLAT	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of DLAT mRNA	CTD	PMID:38568856
DLAT	Human	titanium dioxide	decreases expression	ISO	Dlat (Mus musculus)	6480464	titanium dioxide results in decreased expression of DLAT mRNA	CTD	PMID:27760801
DLAT	Human	titanium dioxide	increases methylation	ISO	Dlat (Mus musculus)	6480464	titanium dioxide results in increased methylation of DLAT gene	CTD	PMID:35295148
DLAT	Human	titanium dioxide	decreases methylation	ISO	Dlat (Mus musculus)	6480464	titanium dioxide results in decreased methylation of DLAT gene	CTD	PMID:35295148
DLAT	Human	triclosan	decreases expression	EXP		6480464	Triclosan results in decreased expression of DLAT mRNA	CTD	PMID:30510588
DLAT	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of DLAT mRNA	CTD	PMID:37042841
DLAT	Human	ursodeoxycholic acid	affects expression	EXP		6480464	Ursodeoxycholic Acid affects the expression of DLAT mRNA	CTD	PMID:18422935
DLAT	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in decreased expression of DLAT mRNA	CTD	PMID:17183730
DLAT	Human	valproic acid	affects expression	ISO	Dlat (Mus musculus)	6480464	Valproic Acid affects the expression of DLAT mRNA	CTD	PMID:17292431
DLAT	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of DLAT gene	CTD	PMID:29154799
DLAT	Human	valproic acid	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	Valproic Acid results in decreased expression of DLAT mRNA	CTD	PMID:23665938
DLAT	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of DLAT mRNA	CTD	PMID:25979313
DLAT	Human	vinclozolin	decreases expression	ISO	Dlat (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of DLAT mRNA	CTD	PMID:23555832

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	glucose metabolic process	involved_in	IEA	UniProtKB-KW:KW-0313	150520179		UniProt	GO_REF:0000043
DLAT	Human	pyruvate catabolic process	involved_in	IEA	UniProtKB:Q8BMF4 and ensembl:ENSMUSP00000034567	150520179		Ensembl	GO_REF:0000107
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-9861559
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	IEA	ARBA:ARBA00027586	150520179		UniProt	GO_REF:0000117
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	IEA	UniProtKB:P08461 more ...	150520179		Ensembl	GO_REF:0000107
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	IBA	MGI:2385311 more ...	150520179		GO_Central	GO_REF:0000033
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	ISS	ComplexPortal:CPX-6233	150520179		ComplexPortal	GO_REF:0000114
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	IEA	InterPro:IPR045257	150520179		InterPro	GO_REF:0000002
DLAT	Human	pyruvate decarboxylation to acetyl-CoA	involved_in	IDA		150520179	PMID:24534072	ComplexPortal	PMID:24534072
DLAT	Human	pyruvate decarboxylation to acetyl-CoA		ISO	Dlat (Rattus norvegicus)	9068941		RGD	PMID:7487891 and REF_RGD_ID:1599112
DLAT	Human	tricarboxylic acid cycle	involved_in	IEA	UniProtKB-KW:KW-0816	150520179		UniProt	GO_REF:0000043
DLAT	Human	tricarboxylic acid cycle	involved_in	ISS	UniProtKB:P11180	150520179		UniProt	GO_REF:0000024

Cellular Component

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Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	mitochondrial matrix	located_in	TAS		150520179		Reactome	Reactome:R-HSA-203946 more ...
DLAT	Human	mitochondrial matrix	is_active_in	IEA	UniProtKB:Q8BMF4 and ensembl:ENSMUSP00000034567	150520179		Ensembl	GO_REF:0000107
DLAT	Human	mitochondrial matrix	located_in	IEA	ARBA:ARBA00028628	150520179		UniProt	GO_REF:0000117
DLAT	Human	mitochondrial matrix	located_in	IEA	UniProtKB-SubCell:SL-0170	150520179		UniProt	GO_REF:0000044
DLAT	Human	mitochondrion	located_in	IEA	ARBA:ARBA00026962	150520179		UniProt	GO_REF:0000117
DLAT	Human	mitochondrion	located_in	IEA	UniProtKB:P08461 and ensembl:ENSRNOP00000032890	150520179		Ensembl	GO_REF:0000107
DLAT	Human	mitochondrion	located_in	NAS		150520179	PMID:24534072	ComplexPortal	PMID:24534072
DLAT	Human	mitochondrion	located_in	IDA		150520179		HPA	GO_REF:0000052
DLAT	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
DLAT	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
DLAT	Human	mitochondrion	located_in	HDA		150520179	PMID:20833797	UniProt	PMID:20833797
DLAT	Human	pyruvate dehydrogenase complex	part_of	IEA	UniRule:UR000124451	150520179		UniProt	GO_REF:0000104
DLAT	Human	pyruvate dehydrogenase complex	part_of	IEA	UniProtKB:P08461 and ensembl:ENSRNOP00000032890	150520179		Ensembl	GO_REF:0000107
DLAT	Human	pyruvate dehydrogenase complex	part_of	IBA	PANTHER:PTN000568044 more ...	150520179		GO_Central	GO_REF:0000033
DLAT	Human	pyruvate dehydrogenase complex	part_of	IEA	InterPro:IPR006257 and InterPro:IPR045257	150520179		InterPro	GO_REF:0000002
DLAT	Human	pyruvate dehydrogenase complex	part_of	IDA		150520179	PMID:25525879 and PMID:9242632	MGI	PMID:25525879 and PMID:9242632
DLAT	Human	pyruvate dehydrogenase complex	part_of	ISS	ComplexPortal:CPX-6233	150520179		ComplexPortal	GO_REF:0000114
DLAT	Human	pyruvate dehydrogenase complex	part_of	IPI		150520179	PMID:19240034	ComplexPortal	PMID:19240034
DLAT	Human	pyruvate dehydrogenase complex		ISO	Dlat (Rattus norvegicus)	9068941		RGD	PMID:7487891 and REF_RGD_ID:1599112
DLAT	Human	pyruvate dehydrogenase complex	part_of	NAS		150520179	PMID:3191998	UniProt	PMID:3191998

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	acetyltransferase activity	enables	IEA	UniProtKB:Q8BMF4 and ensembl:ENSMUSP00000034567	150520179		Ensembl	GO_REF:0000107
DLAT	Human	acyltransferase activity	enables	IEA	UniProtKB-KW:KW-0012	150520179		UniProt	GO_REF:0000043
DLAT	Human	acyltransferase activity	enables	IEA	InterPro:IPR001078 more ...	150520179		InterPro	GO_REF:0000002
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IEA	EC:2.3.1.12	150520179		UniProt	GO_REF:0000003
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IEA	UniProtKB:P08461 and ensembl:ENSRNOP00000032890	150520179		Ensembl	GO_REF:0000107
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IDA		150520179	PMID:20160912 and PMID:9045657	UniProt	PMID:20160912 and PMID:9045657
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IBA	PANTHER:PTN002351721 more ...	150520179		GO_Central	GO_REF:0000033
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IEA	RHEA:17017	150520179		RHEA	GO_REF:0000116
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IEA	InterPro:IPR006257	150520179		InterPro	GO_REF:0000002
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	IEA	UniRule:UR000124451	150520179		UniProt	GO_REF:0000104
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	NAS		150520179	PMID:3191998	UniProt	PMID:3191998
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity	enables	TAS		150520179		Reactome	Reactome:R-HSA-9861667
DLAT	Human	dihydrolipoyllysine-residue acetyltransferase activity		ISO	Dlat (Rattus norvegicus)	9068941		RGD	PMID:7487891 and REF_RGD_ID:1599112
DLAT	Human	identical protein binding	enables	IPI	UniProtKB:P10515	150520179	PMID:18184587 and PMID:18184588	IntAct	PMID:18184587 and PMID:18184588
DLAT	Human	protein binding	enables	IPI	UniProtKB:P11177 and UniProtKB:Q15120	150520179	PMID:33961781	IntAct	PMID:33961781
DLAT	Human	protein binding	enables	IPI	UniProtKB:Q15120	150520179	PMID:15861126 more ...	UniProt	PMID:15861126 more ...
DLAT	Human	protein binding	enables	IPI	UniProtKB:Q9Y6E7	150520179	PMID:25525879	IntAct	PMID:25525879
DLAT	Human	protein binding	enables	IPI	UniProtKB:P11177	150520179	PMID:18206651	IntAct	PMID:18206651
DLAT	Human	pyruvate dehydrogenase (NAD+) activity	contributes_to	IC	GO:0004742	150520179	PMID:9045657	MGI	PMID:9045657
DLAT	Human	pyruvate dehydrogenase (NAD+) activity	contributes_to	IDA		150520179	PMID:9242632	MGI	PMID:9242632
DLAT	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	pyruvate metabolic pathway		TAS		2307427		RGD

Imported Annotations - SMPDB

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	citric acid cycle pathway		EXP		10402751		SMPDB	SMP:00057
DLAT	Human	fumaric aciduria pathway		EXP		10402751		SMPDB	SMP:00547
DLAT	Human	Leigh disease pathway		EXP		10402751		SMPDB	SMP:00196
DLAT	Human	mitochondrial complex II deficiency pathway		EXP		10402751		SMPDB	SMP:00548
DLAT	Human	primary hyperoxaluria type 2 pathway		EXP		10402751		SMPDB	SMP:00558
DLAT	Human	pyruvate decarboxylase deficiency pathway		EXP		10402751		SMPDB	SMP:00212
DLAT	Human	pyruvate dehydrogenase E1 deficiency pathway		EXP		10402751		SMPDB	SMP:00334
DLAT	Human	pyruvate dehydrogenase E2 deficiency pathway		EXP		10402751		SMPDB	SMP:00551
DLAT	Human	pyruvate dehydrogenase E3 deficiency pathway		EXP		10402751		SMPDB	SMP:00550
DLAT	Human	pyruvate kinase deficiency of red cells pathway		EXP		10402751		SMPDB	SMP:00559
DLAT	Human	pyruvate metabolic pathway		EXP		10402751		SMPDB	SMP:00060

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	citric acid cycle pathway		IEA		6907045		KEGG	hsa:00020
DLAT	Human	gluconeogenesis pathway		IEA		6907045		KEGG	hsa:00010
DLAT	Human	glycolysis pathway		IEA		6907045		KEGG	hsa:00010
DLAT	Human	glycolysis/gluconeogenesis pathway		IEA		6907045		KEGG	hsa:00010
DLAT	Human	pyruvate metabolic pathway		IEA		6907045		KEGG	hsa:00620

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	Abnormal circulating enzyme concentration or activity		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Abnormal CSF pyruvate family amino acid concentration		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Abnormality of eye movement		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Abnormality of the nervous system		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Anxiety		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Arm dystonia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Ataxia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Atypical behavior		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Babinski sign		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Brisk reflexes		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Broad-based gait		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Choreoathetosis		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Decreased circulating vitamin B1 concentration		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Delayed ability to stand		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Delayed ability to walk		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Delayed gross motor development		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Dementia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Drooling		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Dysarthria		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Dystonia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Esodeviation		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Eye of the tiger anomaly of globus pallidus		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Frog-leg posture		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Functional motor deficit		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Generalized dystonia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Global developmental delay		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Hyperreflexia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Hypertonia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Hypotonia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Infantile onset		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Intellectual disability, mild		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Intellectual disability, severe		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Jerky head movements		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Lactic acidosis		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Lower limb hyperreflexia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Microcephaly		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Motor delay		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Neonatal hypotonia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Neurodegeneration		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Nystagmus		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Oculomotor apraxia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Paroxysmal dystonia		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Paroxysmal dystonia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Pendular nystagmus		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Peripheral visual field loss		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Persistent head lag		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Poor speech		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Positional foot deformity		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Ptosis		IAGP		8699517		HPO	MIM:245348
DLAT	Human	Retinal degeneration		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Speech apraxia		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Strabismus		IAGP		8699517		HPO	ORPHA:79244
DLAT	Human	Upgaze palsy		IAGP		8699517		HPO	ORPHA:79244

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Decreased activity of the pyruvate dehydrogenase complex		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency	ClinVar
DLAT	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DLAT	Human	Pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:15531530 and PMID:28492532
DLAT	Human	Pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:19351833 more ...
DLAT	Human	Pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:19454582 more ...
DLAT	Human	Pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromaffin tumors	ClinVar	PMID:28492532
DLAT	Human	Prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Prostatic cancer	ClinVar	PMID:23265383

#	Reference Title	Reference Citation
1.	Changes in brain gene expression after long-term sleep deprivation.	Cirelli C, etal., J Neurochem. 2006 Sep;98(5):1632-45.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases.	Patel MS and Korotchkina LG, Exp Mol Med. 2001 Dec 31;33(4):191-7.
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:2317220	PMID:3036145	PMID:3174635	PMID:3191998	PMID:7273846	PMID:8102256	PMID:8125298	PMID:9045657	PMID:9242632	PMID:9649469	PMID:11978179	PMID:12395322
PMID:12477932	PMID:12676647	PMID:12816949	PMID:14638692	PMID:14702039	PMID:15120760	PMID:15861126	PMID:16049940	PMID:17068145	PMID:17683942	PMID:18184587	PMID:18184588
PMID:18206651	PMID:19185000	PMID:19240034	PMID:19240061	PMID:19542561	PMID:20160912	PMID:20180236	PMID:20361979	PMID:20452482	PMID:20673868	PMID:20800603	PMID:20833797
PMID:20877624	PMID:21145461	PMID:21628590	PMID:21873635	PMID:21988832	PMID:22079093	PMID:22586326	PMID:22939629	PMID:23543758	PMID:23798571	PMID:24147044	PMID:24534072
PMID:25042803	PMID:25043065	PMID:25525879	PMID:25544563	PMID:25865307	PMID:25921289	PMID:26186194	PMID:26217791	PMID:26344197	PMID:26496610	PMID:26549023	PMID:26753982
PMID:26949251	PMID:27342126	PMID:27432908	PMID:27499296	PMID:27684187	PMID:28302793	PMID:28514442	PMID:28515276	PMID:29117863	PMID:29128334	PMID:29229926	PMID:29467282
PMID:29507755	PMID:29509190	PMID:29511261	PMID:29568061	PMID:29791485	PMID:29859926	PMID:29987050	PMID:30472188	PMID:30619736	PMID:30948266	PMID:30997501	PMID:31091453
PMID:31280863	PMID:31300519	PMID:31324722	PMID:31343991	PMID:31536960	PMID:31537781	PMID:31586073	PMID:31623628	PMID:31665637	PMID:31678930	PMID:31694235	PMID:31753913
PMID:31871319	PMID:31995728	PMID:32060556	PMID:32129710	PMID:32203420	PMID:32628020	PMID:32694731	PMID:32698014	PMID:32877691	PMID:33194618	PMID:33239621	PMID:33378683
PMID:33766124	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34138529	PMID:34299191	PMID:34349018	PMID:34535262	PMID:34709727	PMID:34728620	PMID:34737337	PMID:34800366
PMID:35013218	PMID:35013556	PMID:35124280	PMID:35140242	PMID:35213938	PMID:35241646	PMID:35271311	PMID:35446349	PMID:35509820	PMID:35575683	PMID:35687106	PMID:35776542
PMID:35831314	PMID:35914814	PMID:35915203	PMID:35941108	PMID:36012169	PMID:36114006	PMID:36168627	PMID:36180527	PMID:36215168	PMID:36225252	PMID:36244648	PMID:36424410
PMID:36470425	PMID:36517590	PMID:36597993	PMID:36708875	PMID:36880596	PMID:36912080	PMID:36949759	PMID:36975441	PMID:37199628	PMID:37223481	PMID:37314216	PMID:37827155
PMID:37828099	PMID:37863330	PMID:38113892	PMID:38569033	PMID:39428563

DLAT
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	112,025,033 - 112,064,404 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	111,896,132 - 111,935,128 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	111,401,381 - 111,439,799 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	111,401,387 - 111,439,798	NCBI
Celera	11	109,048,752 - 109,088,192 (+)	NCBI		Celera
Cytogenetic Map	11	q23.1	NCBI
HuRef	11	107,819,561 - 107,858,905 (+)	NCBI		HuRef
CHM1_1	11	111,778,793 - 111,818,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI		T2T-CHM13v2.0

Dlat
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	50,545,933 - 50,571,080 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	50,545,933 - 50,571,080 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	50,634,633 - 50,659,780 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	50,634,633 - 50,659,780 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	50,442,738 - 50,467,885 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	50,386,865 - 50,412,010 (-)	NCBI		MGSCv36	mm8
Celera	9	47,920,941 - 47,946,308 (-)	NCBI		Celera
Cytogenetic Map	9	A5.3	NCBI
cM Map	9	27.75	NCBI

Dlat
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	59,875,537 - 59,900,947 (-)	NCBI		GRCr8
mRatBN7.2	8	50,979,151 - 51,004,435 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	50,978,051 - 51,004,479 (-)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	1	33,231,226 - 33,233,129 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	56,484,986 - 56,510,281 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	54,763,886 - 54,789,211 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	52,628,160 - 52,653,457 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	55,062,549 - 55,087,832 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	55,062,551 - 55,087,832 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	53,659,920 - 53,685,238 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	53,989,491 - 54,014,779 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	54,008,592 - 54,033,135 (-)	NCBI
Celera	8	50,507,581 - 50,552,393 (-)	NCBI		Celera
Cytogenetic Map	8	q23	NCBI

Dlat
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955412	13,718,067 - 13,744,239 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	13,718,091 - 13,746,220 (+)	NCBI	ChiLan1.0	ChiLan1.0

DLAT
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	112,770,172 - 112,813,947 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	113,864,456 - 113,909,461 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	106,910,857 - 106,950,851 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	110,755,310 - 110,793,876 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	110,756,001 - 110,792,795 (+)	Ensembl	panpan1.1		panPan2

DLAT
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	21,062,833 - 21,094,235 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	21,064,026 - 21,094,153 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	20,985,229 - 21,016,566 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	21,086,208 - 21,117,183 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	21,086,325 - 21,117,555 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	21,147,724 - 21,178,540 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	21,047,717 - 21,079,036 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	21,096,415 - 21,127,748 (-)	NCBI		UU_Cfam_GSD_1.0

Dlat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	94,268,188 - 94,312,532 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936612	2,393,071 - 2,437,522 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936612	2,395,452 - 2,437,592 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DLAT
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	39,738,564 - 39,796,806 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	39,738,639 - 39,763,813 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	44,595,812 - 44,605,405 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Sscrofa10.2	9	44,530,186 - 44,541,155 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DLAT
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	103,379,165 - 103,419,585 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	103,380,426 - 103,420,386 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	22,562,984 - 22,603,121 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dlat
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624784	7,181,671 - 7,214,751 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624784	7,181,550 - 7,216,779 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in DLAT
338 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003333076]\|not provided [RCV000518970]	Chr11:112026285 [GRCh38] Chr11:111897009 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.362_364del (p.Glu121del)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV000002190]	Chr11:112026279..112026281 [GRCh38] Chr11:111897003..111897005 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000002191]	Chr11:112061088 [GRCh38] Chr11:111931812 [GRCh37] Chr11:11q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001931.5(DLAT):c.1514+219T>G	single nucleotide variant	not provided [RCV001571046]	Chr11:112051568 [GRCh38] Chr11:111922292 [GRCh37] Chr11:11q23.1	likely benign
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	copy number gain	See cases [RCV000053638]	Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25	pathogenic
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001510014]\|not provided [RCV000676203]\|not specified [RCV000116877]	Chr11:112025600 [GRCh38] Chr11:111896324 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001510015]\|not provided [RCV000676209]\|not specified [RCV000116878]	Chr11:112045923 [GRCh38] Chr11:111916647 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001516164]\|not provided [RCV000676208]\|not specified [RCV000116879]	Chr11:112037438 [GRCh38] Chr11:111908162 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000904667]\|not specified [RCV000124680]	Chr11:112025518 [GRCh38] Chr11:111896242 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	single nucleotide variant	DLAT-related disorder [RCV003975102]\|Pyruvate dehydrogenase E2 deficiency [RCV001001506]\|not provided [RCV000676202]\|not specified [RCV000124681]	Chr11:112025527 [GRCh38] Chr11:111896251 [GRCh37] Chr11:11q23.1	benign\|likely benign\|uncertain significance
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000962443]\|not provided [RCV001530019]\|not specified [RCV000124682]	Chr11:112037413 [GRCh38] Chr11:111908137 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.506+11C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001519937]\|not provided [RCV004706567]\|not specified [RCV000124683]	Chr11:112028650 [GRCh38] Chr11:111899374 [GRCh37] Chr11:11q23.1	benign\|uncertain significance
NM_001931.5(DLAT):c.570A>G (p.Gln190=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000603990]\|not provided [RCV003390813]\|not specified [RCV000124684]	Chr11:112028855 [GRCh38] Chr11:111899579 [GRCh37] Chr11:11q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001001507]\|not provided [RCV000676206]\|not specified [RCV000124685]	Chr11:112028911 [GRCh38] Chr11:111899635 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.693C>T (p.Thr231=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001083386]\|not provided [RCV000676207]\|not specified [RCV000124686]	Chr11:112033436 [GRCh38] Chr11:111904160 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	single nucleotide variant	Inborn genetic diseases [RCV000190817]\|Pyruvate dehydrogenase E2 deficiency [RCV000767878]\|not specified [RCV003317143]	Chr11:112028603 [GRCh38] Chr11:111899327 [GRCh37] Chr11:11q23.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001931.5(DLAT):c.1339T>C (p.Tyr447His)	single nucleotide variant	Malignant tumor of prostate [RCV000149123]	Chr11:112045911 [GRCh38] Chr11:111916635 [GRCh37] Chr11:11q23.1	uncertain significance
GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	copy number gain	See cases [RCV000134885]	Chr11:111659380..112255732 [GRCh38] Chr11:111530104..112126455 [GRCh37] Chr11:111035314..111631665 [NCBI36] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.487A>G (p.Ile163Val)	single nucleotide variant	not specified [RCV000196681]	Chr11:112028620 [GRCh38] Chr11:111899344 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002517207]\|not provided [RCV001531762]\|not specified [RCV000200505]	Chr11:112028868 [GRCh38] Chr11:111899592 [GRCh37] Chr11:11q23.1	pathogenic\|likely benign\|uncertain significance
NM_001931.4(DLAT):c.1229C>G (p.Pro410Arg)	single nucleotide variant	not specified [RCV000200564]	Chr11:112045169 [GRCh38] Chr11:111915893 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)	single nucleotide variant	Inborn genetic diseases [RCV004020393]\|Pyruvate dehydrogenase E2 deficiency [RCV000660430]\|not provided [RCV003313055]	Chr11:112028857 [GRCh38] Chr11:111899581 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.1152C>G (p.Ile384Met)	single nucleotide variant	not provided [RCV000198783]	Chr11:112043488 [GRCh38] Chr11:111914212 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.359A>G (p.Asn120Ser)	single nucleotide variant	not specified [RCV000199657]	Chr11:112026277 [GRCh38] Chr11:111897001 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001086390]\|not provided [RCV000196247]	Chr11:112028913 [GRCh38] Chr11:111899637 [GRCh37] Chr11:11q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001444432]\|not provided [RCV004705203]	Chr11:112039259 [GRCh38] Chr11:111909983 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.4(DLAT):c.-90G>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000397514]	Chr11:112025383 [GRCh38] Chr11:111896107 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*1595G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000348292]	Chr11:112064130 [GRCh38] Chr11:111934854 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-156C>G	single nucleotide variant	not provided [RCV001552510]	Chr11:112025317 [GRCh38] Chr11:111896041 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.*1109C>T	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000375078]	Chr11:112063644 [GRCh38] Chr11:111934368 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1692G>A (p.Thr564=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002520672]\|not provided [RCV001705451]	Chr11:112061052 [GRCh38] Chr11:111931776 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.*873T>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000376420]	Chr11:112063408 [GRCh38] Chr11:111934132 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.318C>A (p.Gly106=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001466689]\|not provided [RCV000901088]	Chr11:112026236 [GRCh38] Chr11:111896960 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.4(DLAT):c.-212C>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000290756]	Chr11:112025261 [GRCh38] Chr11:111895985 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-572G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000259447]	Chr11:112024901 [GRCh38] Chr11:111895625 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-647C>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000357813]	Chr11:112024826 [GRCh38] Chr11:111895550 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.1232_1235dupAGGA	microsatellite	Pyruvate dehydrogenase complex deficiency [RCV000278182]	Chr11:112063759..112063760 [GRCh38] Chr11:111934483..111934484 [GRCh37] Chr11:11q23.1	benign
NM_001931.4(DLAT):c.-222C>T	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000385162]	Chr11:112025251 [GRCh38] Chr11:111895975 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*1375T>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000295682]	Chr11:112063910 [GRCh38] Chr11:111934634 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1399-13C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002072297]\|not provided [RCV001581214]	Chr11:112051221 [GRCh38] Chr11:111921945 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.4(DLAT):c.-637G>A	single nucleotide variant	not provided [RCV001569971]	Chr11:112024836 [GRCh38] Chr11:111895560 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.*1318A>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000387829]	Chr11:112063853 [GRCh38] Chr11:111934577 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)	single nucleotide variant	DLAT-related disorder [RCV003977872]\|Pyruvate dehydrogenase E2 deficiency [RCV000907218]\|not provided [RCV001660588]	Chr11:112043478 [GRCh38] Chr11:111914202 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.210G>C (p.Arg70=)	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000298677]	Chr11:112025682 [GRCh38] Chr11:111896406 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*920A>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000265467]	Chr11:112063455 [GRCh38] Chr11:111934179 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*168G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000366084]	Chr11:112062703 [GRCh38] Chr11:111933427 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*419A>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000266761]	Chr11:112062954 [GRCh38] Chr11:111933678 [GRCh37] Chr11:11q23.1	benign
NM_001931.4(DLAT):c.-203C>T	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000345684]	Chr11:112025270 [GRCh38] Chr11:111895994 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.506+12G>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002056172]\|not specified [RCV000444820]	Chr11:112028651 [GRCh38] Chr11:111899375 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.*220T>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000271616]	Chr11:112062755 [GRCh38] Chr11:111933479 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.828G>T (p.Leu276=)	single nucleotide variant	DLAT-related disorder [RCV003930279]\|Pyruvate dehydrogenase E2 deficiency [RCV002056173]\|not provided [RCV000889512]\|not specified [RCV000434849]	Chr11:112037313 [GRCh38] Chr11:111908037 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.*622C>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000324206]	Chr11:112063157 [GRCh38] Chr11:111933881 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-157G>A	single nucleotide variant	not provided [RCV001581459]	Chr11:112025316 [GRCh38] Chr11:111896040 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.606G>A (p.Ser202=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002073056]\|not provided [RCV001653160]	Chr11:112028891 [GRCh38] Chr11:111899615 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	single nucleotide variant	Inborn genetic diseases [RCV003093800]\|Pyruvate dehydrogenase E2 deficiency [RCV002176660]	Chr11:112061095 [GRCh38] Chr11:111931819 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.*243T>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000308053]	Chr11:112062778 [GRCh38] Chr11:111933502 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-338T>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000329709]	Chr11:112025135 [GRCh38] Chr11:111895859 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-590G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000354212]	Chr11:112024883 [GRCh38] Chr11:111895607 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000609986]\|not provided [RCV003327393]	Chr11:112037431 [GRCh38] Chr11:111908155 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.*96C>A	single nucleotide variant	not provided [RCV001638710]	Chr11:112062631 [GRCh38] Chr11:111933355 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.*1248G>C	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000335705]	Chr11:112063783 [GRCh38] Chr11:111934507 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.423G>A (p.Glu141=)	single nucleotide variant	not provided [RCV000292830]	Chr11:112028556 [GRCh38] Chr11:111899280 [GRCh37] Chr11:11q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001931.5(DLAT):c.402T>C (p.Thr134=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002785478]	Chr11:112028535 [GRCh38] Chr11:111899259 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)	single nucleotide variant	Inborn genetic diseases [RCV004041604]\|Pyruvate dehydrogenase E2 deficiency [RCV001903189]	Chr11:112037459 [GRCh38] Chr11:111908183 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-598C>T	single nucleotide variant	not provided [RCV001598923]	Chr11:112024875 [GRCh38] Chr11:111895599 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.165C>G (p.Val55=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003497843]\|not provided [RCV000726313]\|not specified [RCV000406039]	Chr11:112025637 [GRCh38] Chr11:111896361 [GRCh37] Chr11:11q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001931.5(DLAT):c.658C>G (p.Gln220Glu)	single nucleotide variant	Inborn genetic diseases [RCV003243589]	Chr11:112028943 [GRCh38] Chr11:111899667 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*246A>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000362771]	Chr11:112062781 [GRCh38] Chr11:111933505 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-383T>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000293397]	Chr11:112025090 [GRCh38] Chr11:111895814 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.*981G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000318250]	Chr11:112063516 [GRCh38] Chr11:111934240 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-500C>T	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000333156]	Chr11:112024973 [GRCh38] Chr11:111895697 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1290+5G>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002034399]	Chr11:112045235 [GRCh38] Chr11:111915959 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-471C>T	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000387646]	Chr11:112025002 [GRCh38] Chr11:111895726 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.687C>T (p.Thr229=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003497869]\|not provided [RCV004705718]\|not specified [RCV000603798]	Chr11:112033430 [GRCh38] Chr11:111904154 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.*1704A>G	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000394754]	Chr11:112064239 [GRCh38] Chr11:111934963 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.4(DLAT):c.-137G>A	single nucleotide variant	Pyruvate dehydrogenase complex deficiency [RCV000342380]	Chr11:112025336 [GRCh38] Chr11:111896060 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1035A>G (p.Pro345=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001082186]\|not provided [RCV000416012]	Chr11:112039303 [GRCh38] Chr11:111910027 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.382G>A (p.Val128Ile)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001327355]\|not provided [RCV000732667]	Chr11:112028515 [GRCh38] Chr11:111899239 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.1678-12T>C	single nucleotide variant	not specified [RCV000424059]	Chr11:112061026 [GRCh38] Chr11:111931750 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1815-17T>G	single nucleotide variant	not specified [RCV000424350]	Chr11:112062389 [GRCh38] Chr11:111933113 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.-15G>A	single nucleotide variant	not provided [RCV001705563]	Chr11:112025458 [GRCh38] Chr11:111896182 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.870C>T (p.Leu290=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603055]\|not specified [RCV000418313]	Chr11:112037355 [GRCh38] Chr11:111908079 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.675C>T (p.Ala225=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000898742]\|not provided [RCV001704320]	Chr11:112033418 [GRCh38] Chr11:111904142 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1815-15T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002519539]\|not specified [RCV000422147]	Chr11:112062391 [GRCh38] Chr11:111933115 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.754C>T (p.Leu252=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001496689]\|not provided [RCV003392246]\|not specified [RCV000432572]	Chr11:112033497 [GRCh38] Chr11:111904221 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.279+13C>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002062565]\|not specified [RCV000422967]	Chr11:112025764 [GRCh38] Chr11:111896488 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.410T>G (p.Phe137Cys)	single nucleotide variant	not provided [RCV000481071]	Chr11:112028543 [GRCh38] Chr11:111899267 [GRCh37] Chr11:11q23.1	likely pathogenic\|uncertain significance
NM_001931.5(DLAT):c.1129+2T>C	single nucleotide variant	not provided [RCV000497872]	Chr11:112039399 [GRCh38] Chr11:111910123 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV000500244]	Chr11:112037333..112037334 [GRCh38] Chr11:111908057..111908058 [GRCh37] Chr11:11q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001931.5(DLAT):c.976-1G>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001196727]\|not provided [RCV000497952]	Chr11:112039243 [GRCh38] Chr11:111909967 [GRCh37] Chr11:11q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001931.5(DLAT):c.381+5G>T	single nucleotide variant	not specified [RCV000506160]	Chr11:112026304 [GRCh38] Chr11:111897028 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.976-2del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV003497855]\|not specified [RCV000507144]	Chr11:112039239 [GRCh38] Chr11:111909963 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001931.4(DLAT):c.381+22delT	deletion	Pyruvate dehydrogenase E2 deficiency [RCV000625085]\|not provided [RCV000676204]	Chr11:112026305 [GRCh38] Chr11:111897029 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000642190]	Chr11:112026273 [GRCh38] Chr11:111896997 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1677+8A>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001471028]\|not specified [RCV000602801]	Chr11:112060073 [GRCh38] Chr11:111930797 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.4(DLAT):c.381+22delT	deletion	Pyruvate dehydrogenase E2 deficiency [RCV000625374]	Chr11:112026321 [GRCh38] Chr11:111897045 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.144G>A (p.Val48=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000642191]	Chr11:112025616 [GRCh38] Chr11:111896340 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.240G>A (p.Ser80=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002062962]\|not specified [RCV000609491]	Chr11:112025712 [GRCh38] Chr11:111896436 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.976-15A>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002528807]\|not specified [RCV000612982]	Chr11:112039229 [GRCh38] Chr11:111909953 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001506699]\|not provided [RCV004705689]\|not specified [RCV000607494]	Chr11:112059930 [GRCh38] Chr11:111930654 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.177C>T (p.Cys59=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002065341]\|not provided [RCV001697903]	Chr11:112025649 [GRCh38] Chr11:111896373 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1290+13C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003497861]\|not specified [RCV000609129]	Chr11:112045243 [GRCh38] Chr11:111915967 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.981C>T (p.Ala327=)	single nucleotide variant	DLAT-related disorder [RCV003928001]\|Pyruvate dehydrogenase E2 deficiency [RCV002064194]\|not provided [RCV001719008]	Chr11:112039249 [GRCh38] Chr11:111909973 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)	single nucleotide variant	Inborn genetic diseases [RCV004972842]\|Pyruvate dehydrogenase E2 deficiency [RCV000660429]	Chr11:112045142 [GRCh38] Chr11:111915866 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)	single nucleotide variant	Inborn genetic diseases [RCV004972847]\|Pyruvate dehydrogenase E2 deficiency [RCV002531376]\|not provided [RCV000676210]	Chr11:112059935 [GRCh38] Chr11:111930659 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.381+22dup	duplication	not provided [RCV000676205]\|not specified [RCV001727793]	Chr11:112026304..112026305 [GRCh38] Chr11:111897028..111897029 [GRCh37] Chr11:11q23.1	benign\|likely benign
NM_001931.5(DLAT):c.1678-32_1678-31insAA	insertion	not provided [RCV000676211]	Chr11:112061006..112061007 [GRCh38] Chr11:111931730..111931731 [GRCh37] Chr11:11q23.1	benign
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
NM_001931.5(DLAT):c.1399-65C>T	single nucleotide variant	not provided [RCV001609094]	Chr11:112051169 [GRCh38] Chr11:111921893 [GRCh37] Chr11:11q23.1	benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
NM_001931.5(DLAT):c.1198-266G>A	single nucleotide variant	not provided [RCV001534462]	Chr11:112044872 [GRCh38] Chr11:111915596 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.788-195A>G	single nucleotide variant	not provided [RCV001575098]	Chr11:112037078 [GRCh38] Chr11:111907802 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001043817]	Chr11:112025504 [GRCh38] Chr11:111896228 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1290+315G>A	single nucleotide variant	not provided [RCV001724447]	Chr11:112045545 [GRCh38] Chr11:111916269 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.969A>C (p.Pro323=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000922994]\|not provided [RCV001720268]	Chr11:112037454 [GRCh38] Chr11:111908178 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002066407]\|not provided [RCV000967708]	Chr11:112060024 [GRCh38] Chr11:111930748 [GRCh37] Chr11:11q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001931.5(DLAT):c.1476C>T (p.Pro492=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV000920510]	Chr11:112051311 [GRCh38] Chr11:111922035 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.927C>T (p.Thr309=)	single nucleotide variant	not provided [RCV000884000]	Chr11:112037412 [GRCh38] Chr11:111908136 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.759A>G (p.Ala253=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001434589]	Chr11:112033502 [GRCh38] Chr11:111904226 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001061768]	Chr11:112039251 [GRCh38] Chr11:111909975 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.(?_111896177)_(111922093_?)del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV001032587]	Chr11:111896177..111922093 [GRCh37] Chr11:11q23.1	pathogenic\|uncertain significance
NM_001931.5(DLAT):c.396dup (p.Ala133fs)	duplication	Pyruvate dehydrogenase E2 deficiency [RCV000778303]	Chr11:112028526..112028527 [GRCh38] Chr11:111899250..111899251 [GRCh37] Chr11:11q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002633576]	Chr11:112028545 [GRCh38] Chr11:111899269 [GRCh37] Chr11:11q23.1	pathogenic\|uncertain significance
NM_001931.5(DLAT):c.78G>A (p.Gln26=)	single nucleotide variant	not provided [RCV000980523]	Chr11:112025550 [GRCh38] Chr11:111896274 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1743C>T (p.Asn581=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001455106]	Chr11:112061103 [GRCh38] Chr11:111931827 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1197+9T>C	single nucleotide variant	not provided [RCV000936152]	Chr11:112043542 [GRCh38] Chr11:111914266 [GRCh37] Chr11:11q23.1	likely benign
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	copy number loss	not provided [RCV000848741]	Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3	pathogenic
NM_001931.5(DLAT):c.1291-245A>G	single nucleotide variant	not provided [RCV000828806]	Chr11:112045618 [GRCh38] Chr11:111916342 [GRCh37] Chr11:11q23.1	benign
NM_001931.4(DLAT):c.-943G>T	single nucleotide variant	not provided [RCV000828805]	Chr11:112024530 [GRCh38] Chr11:112024530..112024531 [GRCh38] Chr11:111895254 [GRCh37] Chr11:111895254..111895255 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.787+272T>C	single nucleotide variant	not provided [RCV000828967]	Chr11:112033802 [GRCh38] Chr11:111904526 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1374G>A (p.Leu458=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003497883]\|not provided [RCV000827192]	Chr11:112045946 [GRCh38] Chr11:111916670 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.976-323A>G	single nucleotide variant	not provided [RCV000833426]	Chr11:112038921 [GRCh38] Chr11:111909645 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1515-214G>A	single nucleotide variant	not provided [RCV000833427]	Chr11:112059689 [GRCh38] Chr11:111930413 [GRCh37] Chr11:11q23.1	benign
NM_001931.4(DLAT):c.-944A>T	single nucleotide variant	not provided [RCV000828800]	Chr11:112024529 [GRCh38] Chr11:111895253 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1197+192G>A	single nucleotide variant	not provided [RCV000843912]	Chr11:112043725 [GRCh38] Chr11:111914449 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)	single nucleotide variant	Inborn genetic diseases [RCV002549880]\|Pyruvate dehydrogenase E2 deficiency [RCV003117669]\|not provided [RCV000994723]	Chr11:112025639 [GRCh38] Chr11:111896363 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1509A>G (p.Ile503Met)	single nucleotide variant	Inborn genetic diseases [RCV002549881]\|not provided [RCV000994724]	Chr11:112051344 [GRCh38] Chr11:111922068 [GRCh37] Chr11:11q23.1	uncertain significance
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	copy number loss	not provided [RCV001006439]	Chr11:103320065..114349787 [GRCh37] Chr11:11q22.3-23.2	pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	copy number loss	not provided [RCV001006445]	Chr11:105699599..114524876 [GRCh37] Chr11:11q22.3-23.3	pathogenic
GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	copy number loss	not provided [RCV000848936]	Chr11:110969076..114578509 [GRCh37] Chr11:11q23.1-23.3	uncertain significance
NM_001931.5(DLAT):c.279+39T>C	single nucleotide variant	not provided [RCV001551338]	Chr11:112025790 [GRCh38] Chr11:111896514 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.787+259C>T	single nucleotide variant	not provided [RCV001570492]	Chr11:112033789 [GRCh38] Chr11:111904513 [GRCh37] Chr11:11q23.1	likely benign
NC_000011.9:g.(?_111896197)_(111899689_?)del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV003107557]	Chr11:111896197..111899689 [GRCh37] Chr11:11q23.1	pathogenic\|uncertain significance
NM_001931.5(DLAT):c.381+22T>A	single nucleotide variant	not provided [RCV001635842]	Chr11:112026321 [GRCh38] Chr11:111897045 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.382-72_382-70del	deletion	not provided [RCV001717109]	Chr11:112028421..112028423 [GRCh38] Chr11:111899145..111899147 [GRCh37] Chr11:11q23.1	benign
NC_000011.10:g.112024469G>T	single nucleotide variant	not provided [RCV001598810]	Chr11:112024469 [GRCh38] Chr11:111895193 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1198-85dup	duplication	not provided [RCV001666681]	Chr11:112045041..112045042 [GRCh38] Chr11:111915765..111915766 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.976-149C>A	single nucleotide variant	not provided [RCV001716206]	Chr11:112039095 [GRCh38] Chr11:111909819 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.976-268_976-265del	deletion	not provided [RCV001557689]	Chr11:112038974..112038977 [GRCh38] Chr11:111909698..111909701 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1515-93A>T	single nucleotide variant	not provided [RCV001563347]	Chr11:112059810 [GRCh38] Chr11:111930534 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.381+27A>T	single nucleotide variant	not provided [RCV001650341]	Chr11:112026326 [GRCh38] Chr11:111897050 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.492T>C (p.Cys164=)	single nucleotide variant	not provided [RCV000910220]	Chr11:112028625 [GRCh38] Chr11:111899349 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001196716]	Chr11:112051234 [GRCh38] Chr11:111921958 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001235170]	Chr11:112045956 [GRCh38] Chr11:111916680 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.654C>T (p.His218=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002544468]\|not provided [RCV003389847]	Chr11:112028939 [GRCh38] Chr11:111899663 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.382-74_382-70del	deletion	not provided [RCV001556555]	Chr11:112028421..112028425 [GRCh38] Chr11:111899145..111899149 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1398+164A>G	single nucleotide variant	not provided [RCV001555112]	Chr11:112046134 [GRCh38] Chr11:111916858 [GRCh37] Chr11:11q23.1	likely benign
NC_000011.10:g.112024510del	deletion	not provided [RCV001568722]	Chr11:112024506 [GRCh38] Chr11:111895230 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.976-58C>T	single nucleotide variant	not provided [RCV001550703]	Chr11:112039186 [GRCh38] Chr11:111909910 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.382-73_382-70del	deletion	not provided [RCV001674984]	Chr11:112028421..112028424 [GRCh38] Chr11:111899145..111899148 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.976-115G>A	single nucleotide variant	not provided [RCV001590557]	Chr11:112039129 [GRCh38] Chr11:111909853 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1198-86_1198-85dup	duplication	not provided [RCV001678472]	Chr11:112045041..112045042 [GRCh38] Chr11:111915765..111915766 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.382-71_382-69del	deletion	not provided [RCV001719689]	Chr11:112028444..112028446 [GRCh38] Chr11:111899168..111899170 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1398+305T>C	single nucleotide variant	not provided [RCV001719554]	Chr11:112046275 [GRCh38] Chr11:111916999 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.661-133T>C	single nucleotide variant	not provided [RCV001676713]	Chr11:112033271 [GRCh38] Chr11:111903995 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.279+49A>G	single nucleotide variant	not provided [RCV001596101]	Chr11:112025800 [GRCh38] Chr11:111896524 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.382-70del	deletion	not provided [RCV001667282]	Chr11:112028421 [GRCh38] Chr11:111899145 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1290+170T>G	single nucleotide variant	not provided [RCV001709860]	Chr11:112045400 [GRCh38] Chr11:111916124 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1290+49del	deletion	not provided [RCV001610185]	Chr11:112045278 [GRCh38] Chr11:111916002 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.661-285G>A	single nucleotide variant	not provided [RCV001709052]	Chr11:112033119 [GRCh38] Chr11:111903843 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.381+21_381+22del	deletion	not provided [RCV001581631]	Chr11:112026305..112026306 [GRCh38] Chr11:111897029..111897030 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.660+83A>C	single nucleotide variant	not provided [RCV001567011]	Chr11:112029028 [GRCh38] Chr11:111899752 [GRCh37] Chr11:11q23.1	likely benign
NC_000011.9:g.(?_111171709)_(111965694_?)del	deletion	Carney-Stratakis syndrome [RCV001032115]	Chr11:111171709..111965694 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001040101]	Chr11:112061072 [GRCh38] Chr11:111931796 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)	single nucleotide variant	Inborn genetic diseases [RCV004032634]\|Pyruvate dehydrogenase E2 deficiency [RCV001228444]	Chr11:112045229 [GRCh38] Chr11:111915953 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1515-51C>T	single nucleotide variant	not provided [RCV001536150]	Chr11:112059852 [GRCh38] Chr11:111930576 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1934TGT[2] (p.Leu647del)	microsatellite	Pyruvate dehydrogenase E2 deficiency [RCV001335882]	Chr11:112062525..112062527 [GRCh38] Chr11:111933249..111933251 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001330870]	Chr11:112037441 [GRCh38] Chr11:111908165 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)	single nucleotide variant	Inborn genetic diseases [RCV003355363]\|Pyruvate dehydrogenase E2 deficiency [RCV001298377]\|not provided [RCV004778048]	Chr11:112051241 [GRCh38] Chr11:111921965 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.(?_111171709)_(111965694_?)dup	duplication	Carney-Stratakis syndrome [RCV001300223]	Chr11:111171709..111965694 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001370172]	Chr11:112051349 [GRCh38] Chr11:111922073 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001361958]	Chr11:112039308 [GRCh38] Chr11:111910032 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001345626]	Chr11:112026261 [GRCh38] Chr11:111896985 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.202A>T (p.Thr68Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001330869]	Chr11:112025674 [GRCh38] Chr11:111896398 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001297179]	Chr11:112045882 [GRCh38] Chr11:111916606 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.510T>A (p.Pro170=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001365666]	Chr11:112028795 [GRCh38] Chr11:111899519 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del	deletion	Ataxia-telangiectasia syndrome [RCV001389105]	Chr11:94153285..111965700 [GRCh37] Chr11:11q21-23.1	pathogenic
NM_001931.5(DLAT):c.54C>A (p.Leu18=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001485841]	Chr11:112025526 [GRCh38] Chr11:111896250 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1071T>C (p.Val357=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001502016]	Chr11:112039339 [GRCh38] Chr11:111910063 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.661-56T>C	single nucleotide variant	not provided [RCV001715664]	Chr11:112033348 [GRCh38] Chr11:111904072 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.279+56G>A	single nucleotide variant	not provided [RCV001585154]	Chr11:112025807 [GRCh38] Chr11:111896531 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1815-42A>G	single nucleotide variant	not provided [RCV001650430]	Chr11:112062364 [GRCh38] Chr11:111933088 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.280-121T>C	single nucleotide variant	not provided [RCV001714335]	Chr11:112026077 [GRCh38] Chr11:111896801 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1598G>A (p.Gly533Glu)	single nucleotide variant	not provided [RCV001583319]	Chr11:112059986 [GRCh38] Chr11:111930710 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.382-71_382-70del	deletion	not provided [RCV001714879]	Chr11:112028421..112028422 [GRCh38] Chr11:111899145..111899146 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.975+16G>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001518740]\|not provided [RCV001720293]	Chr11:112037476 [GRCh38] Chr11:111908200 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.372A>C (p.Leu124=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001430730]	Chr11:112026290 [GRCh38] Chr11:111897014 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1382G>A (p.Arg461Gln)	single nucleotide variant	not provided [RCV001755138]	Chr11:112045954 [GRCh38] Chr11:111916678 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.104288964_134937416dup	duplication	Distal trisomy 11q [RCV001250234]	Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25	pathogenic
NM_001931.5(DLAT):c.788-5T>A	single nucleotide variant	not specified [RCV002247141]	Chr11:112037268 [GRCh38] Chr11:111907992 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1474C>G (p.Pro492Ala)	single nucleotide variant	not specified [RCV002247142]	Chr11:112051309 [GRCh38] Chr11:111922033 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1144G>A (p.Gly382Ser)	single nucleotide variant	not provided [RCV001771164]	Chr11:112043480 [GRCh38] Chr11:111914204 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.83T>C (p.Val28Ala)	single nucleotide variant	not provided [RCV001773345]	Chr11:112025555 [GRCh38] Chr11:111896279 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1621G>A (p.Val541Ile)	single nucleotide variant	not provided [RCV001773930]	Chr11:112060009 [GRCh38] Chr11:111930733 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.458G>A (p.Gly153Asp)	single nucleotide variant	not provided [RCV001752503]	Chr11:112028591 [GRCh38] Chr11:111899315 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001950068]	Chr11:112025725 [GRCh38] Chr11:111896449 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001971606]	Chr11:112059923 [GRCh38] Chr11:111930647 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001929350]	Chr11:112061063 [GRCh38] Chr11:111931787 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)	single nucleotide variant	Inborn genetic diseases [RCV004612005]\|Pyruvate dehydrogenase E2 deficiency [RCV001926901]	Chr11:112045946 [GRCh38] Chr11:111916670 [GRCh37] Chr11:11q23.1	uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001908510]	Chr11:112026243 [GRCh38] Chr11:111896967 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.381+5_381+6insC	insertion	Pyruvate dehydrogenase E2 deficiency [RCV001913653]	Chr11:112026304..112026305 [GRCh38] Chr11:111897028..111897029 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)	duplication	Pyruvate dehydrogenase E2 deficiency [RCV002006819]	Chr11:112061164..112061165 [GRCh38] Chr11:111931888..111931889 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.(?_111896197)_(111922093_?)dup	duplication	Pyruvate dehydrogenase E2 deficiency [RCV001968495]	Chr11:111896197..111922093 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.975G>A (p.Pro325=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001844333]	Chr11:112037460 [GRCh38] Chr11:111908184 [GRCh37] Chr11:11q23.1	pathogenic\|likely pathogenic
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001984303]	Chr11:112037372 [GRCh38] Chr11:111908096 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002048112]	Chr11:112060057 [GRCh38] Chr11:111930781 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001997640]	Chr11:112045225 [GRCh38] Chr11:111915949 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001888537]	Chr11:112037383 [GRCh38] Chr11:111908107 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001958552]	Chr11:112045230 [GRCh38] Chr11:111915954 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001991053]	Chr11:112025570 [GRCh38] Chr11:111896294 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.(?_111779478)_(111961866_?)dup	duplication	Dilated cardiomyopathy 1II [RCV001916482]	Chr11:111779478..111961866 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.381+6T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001957604]	Chr11:112026305 [GRCh38] Chr11:111897029 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001931286]	Chr11:112028569 [GRCh38] Chr11:111899293 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001937145]	Chr11:112025632 [GRCh38] Chr11:111896356 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002009594]	Chr11:112037380 [GRCh38] Chr11:111908104 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)	single nucleotide variant	Inborn genetic diseases [RCV004975775]\|Pyruvate dehydrogenase E2 deficiency [RCV001881363]	Chr11:112060033 [GRCh38] Chr11:111930757 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001876520]	Chr11:112051282 [GRCh38] Chr11:111922006 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001934257]	Chr11:112028862 [GRCh38] Chr11:111899586 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001939439]\|not provided [RCV003228038]	Chr11:112025581 [GRCh38] Chr11:111896305 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.1677+4G>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001952875]	Chr11:112060069 [GRCh38] Chr11:111930793 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001867039]	Chr11:112060052 [GRCh38] Chr11:111930776 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002019025]	Chr11:112039250 [GRCh38] Chr11:111909974 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV001934664]	Chr11:112059955 [GRCh38] Chr11:111930679 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1542G>C (p.Ala514=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002105563]	Chr11:112059930 [GRCh38] Chr11:111930654 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.306A>G (p.Thr102=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002145285]	Chr11:112026224 [GRCh38] Chr11:111896948 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.381+7T>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002090436]	Chr11:112026306 [GRCh38] Chr11:111897030 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.381+8T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002168332]	Chr11:112026307 [GRCh38] Chr11:111897031 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.507-12T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002092523]	Chr11:112028780 [GRCh38] Chr11:111899504 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.506+9T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002088633]	Chr11:112028648 [GRCh38] Chr11:111899372 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.381+12_381+13insG	insertion	Pyruvate dehydrogenase E2 deficiency [RCV002146400]	Chr11:112026311..112026312 [GRCh38] Chr11:111897035..111897036 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.681T>C (p.Ser227=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002149153]	Chr11:112033424 [GRCh38] Chr11:111904148 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1198-16T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002096935]	Chr11:112045122 [GRCh38] Chr11:111915846 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1290+17C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002096329]	Chr11:112045247 [GRCh38] Chr11:111915971 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.252C>T (p.Arg84=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002171519]	Chr11:112025724 [GRCh38] Chr11:111896448 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1678-8del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV002110001]	Chr11:112061023 [GRCh38] Chr11:111931747 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.381+9T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002116884]	Chr11:112026308 [GRCh38] Chr11:111897032 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1197+17T>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002174718]	Chr11:112043550 [GRCh38] Chr11:111914274 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1350C>T (p.Ile450=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002134288]	Chr11:112045922 [GRCh38] Chr11:111916646 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.975+13C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002114088]	Chr11:112037473 [GRCh38] Chr11:111908197 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.975+15_975+16delinsGT	indel	Pyruvate dehydrogenase E2 deficiency [RCV002097076]	Chr11:112037475..112037476 [GRCh38] Chr11:111908199..111908200 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1197+20T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002202676]	Chr11:112043553 [GRCh38] Chr11:111914277 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1678-7C>T	single nucleotide variant	DLAT-related disorder [RCV003903450]\|Pyruvate dehydrogenase E2 deficiency [RCV002183060]	Chr11:112061031 [GRCh38] Chr11:111931755 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.417C>T (p.Ser139=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002163827]	Chr11:112028550 [GRCh38] Chr11:111899274 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.864C>G (p.Thr288=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002101590]	Chr11:112037349 [GRCh38] Chr11:111908073 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.267C>A (p.Pro89=)	single nucleotide variant	DLAT-related disorder [RCV003926290]\|Pyruvate dehydrogenase E2 deficiency [RCV002179203]	Chr11:112025739 [GRCh38] Chr11:111896463 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1399-13_1399-11del	microsatellite	Pyruvate dehydrogenase E2 deficiency [RCV002161732]	Chr11:112051216..112051218 [GRCh38] Chr11:111921940..111921942 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1198-20C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002122196]	Chr11:112045118 [GRCh38] Chr11:111915842 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.280-15C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002155480]	Chr11:112026183 [GRCh38] Chr11:111896907 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.921G>A (p.Arg307=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002135859]	Chr11:112037406 [GRCh38] Chr11:111908130 [GRCh37] Chr11:11q23.1	likely benign
NC_000011.9:g.(?_111171709)_(112104278_?)dup	duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV003111003]\|Pyruvate dehydrogenase E2 deficiency [RCV003111004]	Chr11:111171709..112104278 [GRCh37] Chr11:11q23.1	uncertain significance
NC_000011.9:g.(?_111171709)_(111959745_?)del	deletion	Carney-Stratakis syndrome [RCV003113183]	Chr11:111171709..111959745 [GRCh37] Chr11:11q23.1	pathogenic
NC_000011.9:g.(?_111171709)_(111958707_?)del	deletion	Carney-Stratakis syndrome [RCV003113185]	Chr11:111171709..111958707 [GRCh37] Chr11:11q23.1	pathogenic
NC_000011.9:g.(?_111657121)_(111922093_?)del	deletion	ALG9 congenital disorder of glycosylation [RCV003122711]	Chr11:111657121..111922093 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.79G>A (p.Glu27Lys)	single nucleotide variant	not provided [RCV004786049]	Chr11:112025551 [GRCh38] Chr11:111896275 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.524C>G (p.Ala175Gly)	single nucleotide variant	not provided [RCV003152238]	Chr11:112028809 [GRCh38] Chr11:111899533 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.428G>T (p.Cys143Phe)	single nucleotide variant	not provided [RCV003156616]	Chr11:112028561 [GRCh38] Chr11:111899285 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)	single nucleotide variant	not specified [RCV002266356]	Chr11:112059929 [GRCh38] Chr11:111930653 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.208C>T (p.Arg70Trp)	single nucleotide variant	not specified [RCV002266354]	Chr11:112025680 [GRCh38] Chr11:111896404 [GRCh37] Chr11:11q23.1	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_001931.5(DLAT):c.381+21_381+22dup	duplication	not provided [RCV002283247]	Chr11:112026304..112026305 [GRCh38] Chr11:111897028..111897029 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.998C>G (p.Pro333Arg)	single nucleotide variant	not provided [RCV002265452]	Chr11:112039266 [GRCh38] Chr11:111909990 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro)	single nucleotide variant	Inborn genetic diseases [RCV003096027]\|not specified [RCV002266355]	Chr11:112045917 [GRCh38] Chr11:111916641 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002297420]	Chr11:112062414 [GRCh38] Chr11:111933138 [GRCh37] Chr11:11q23.1	uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	copy number loss	not provided [RCV002474547]	Chr11:109328787..116414966 [GRCh37] Chr11:11q22.3-23.3	pathogenic
NM_001931.5(DLAT):c.977T>C (p.Val326Ala)	single nucleotide variant	not provided [RCV002300765]	Chr11:112039245 [GRCh38] Chr11:111909969 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.279+18dup	duplication	Pyruvate dehydrogenase E2 deficiency [RCV002904107]	Chr11:112025763..112025764 [GRCh38] Chr11:111896487..111896488 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1486T>G (p.Ser496Ala)	single nucleotide variant	Inborn genetic diseases [RCV002816831]	Chr11:112051321 [GRCh38] Chr11:111922045 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002731338]	Chr11:112061144 [GRCh38] Chr11:111931868 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003074147]	Chr11:112062442 [GRCh38] Chr11:111933166 [GRCh37] Chr11:11q23.1	likely benign
NM_001082619.2(PIH1D2):c.839C>T (p.Ala280Val)	single nucleotide variant	not specified [RCV004212033]	Chr11:112064196 [GRCh38] Chr11:111934920 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.131G>T (p.Arg44Leu)	single nucleotide variant	Inborn genetic diseases [RCV002837054]	Chr11:112025603 [GRCh38] Chr11:111896327 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002996118]	Chr11:112043482 [GRCh38] Chr11:111914206 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003075920]	Chr11:112025660 [GRCh38] Chr11:111896384 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1045G>C (p.Ala349Pro)	single nucleotide variant	Inborn genetic diseases [RCV002754047]	Chr11:112039313 [GRCh38] Chr11:111910037 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002908633]	Chr11:112037419 [GRCh38] Chr11:111908143 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1351G>C (p.Asp451His)	single nucleotide variant	Inborn genetic diseases [RCV002762182]	Chr11:112045923 [GRCh38] Chr11:111916647 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.412G>A (p.Glu138Lys)	single nucleotide variant	Inborn genetic diseases [RCV002911549]	Chr11:112028545 [GRCh38] Chr11:111899269 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1677+9T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002636774]	Chr11:112060074 [GRCh38] Chr11:111930798 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)	single nucleotide variant	Inborn genetic diseases [RCV003250736]\|Pyruvate dehydrogenase E2 deficiency [RCV003079007]	Chr11:112028890 [GRCh38] Chr11:111899614 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002736836]	Chr11:112025725 [GRCh38] Chr11:111896449 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1291-10T>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002591894]	Chr11:112045853 [GRCh38] Chr11:111916577 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.489C>T (p.Ile163=)	single nucleotide variant	DLAT-related disorder [RCV003961330]\|Pyruvate dehydrogenase E2 deficiency [RCV002976225]	Chr11:112028622 [GRCh38] Chr11:111899346 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002636842]	Chr11:112045193 [GRCh38] Chr11:111915917 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)	indel	Pyruvate dehydrogenase E2 deficiency [RCV003008271]	Chr11:112043507..112043508 [GRCh38] Chr11:111914231..111914232 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.280G>C (p.Val94Leu)	single nucleotide variant	Inborn genetic diseases [RCV002929393]	Chr11:112026198 [GRCh38] Chr11:111896922 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002928607]	Chr11:112045227 [GRCh38] Chr11:111915951 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003006111]	Chr11:112025641 [GRCh38] Chr11:111896365 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003005015]	Chr11:112045950 [GRCh38] Chr11:111916674 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002572248]	Chr11:112062458 [GRCh38] Chr11:111933182 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1130-6T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003059255]\|not provided [RCV004765629]	Chr11:112043460 [GRCh38] Chr11:111914184 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	single nucleotide variant	Inborn genetic diseases [RCV002930073]	Chr11:112062452 [GRCh38] Chr11:111933176 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1208C>G (p.Ala403Gly)	single nucleotide variant	Inborn genetic diseases [RCV002877764]	Chr11:112045148 [GRCh38] Chr11:111915872 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1515-7T>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003065728]	Chr11:112059896 [GRCh38] Chr11:111930620 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002632573]	Chr11:112037341 [GRCh38] Chr11:111908065 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002962262]	Chr11:112028920 [GRCh38] Chr11:111899644 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.382-16C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002962784]	Chr11:112028499 [GRCh38] Chr11:111899223 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1677+21_1677+24del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV002629687]	Chr11:112060084..112060087 [GRCh38] Chr11:111930808..111930811 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003060911]	Chr11:112028848 [GRCh38] Chr11:111899572 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003045036]	Chr11:112051336 [GRCh38] Chr11:111922060 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003061245]\|not provided [RCV004725508]	Chr11:112028611 [GRCh38] Chr11:111899335 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)	duplication	Pyruvate dehydrogenase E2 deficiency [RCV003060233]	Chr11:112028838..112028839 [GRCh38] Chr11:111899562..111899563 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	single nucleotide variant	Inborn genetic diseases [RCV002960408]	Chr11:112062431 [GRCh38] Chr11:111933155 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002833495]	Chr11:112061131 [GRCh38] Chr11:111931855 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.975+4G>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003009703]	Chr11:112037464 [GRCh38] Chr11:111908188 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002584133]	Chr11:112028615 [GRCh38] Chr11:111899339 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)	deletion	Inborn genetic diseases [RCV003071358]\|Pyruvate dehydrogenase E2 deficiency [RCV003071359]	Chr11:112037440..112037451 [GRCh38] Chr11:111908164..111908175 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.222G>A (p.Leu74=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002634483]	Chr11:112025694 [GRCh38] Chr11:111896418 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1368A>G (p.Glu456=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV002587308]	Chr11:112045940 [GRCh38] Chr11:111916664 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.788-20_788-18del	deletion	Pyruvate dehydrogenase E2 deficiency [RCV002635610]	Chr11:112037252..112037254 [GRCh38] Chr11:111907976..111907978 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003146100]	Chr11:112059979 [GRCh38] Chr11:111930703 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.979G>T (p.Ala327Ser)	single nucleotide variant	Inborn genetic diseases [RCV003214643]	Chr11:112039247 [GRCh38] Chr11:111909971 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	single nucleotide variant	Inborn genetic diseases [RCV003181300]	Chr11:112059976 [GRCh38] Chr11:111930700 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003146098]	Chr11:112025737 [GRCh38] Chr11:111896461 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003146099]	Chr11:112037385 [GRCh38] Chr11:111908109 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.481G>A (p.Ala161Thr)	single nucleotide variant	Inborn genetic diseases [RCV003263075]	Chr11:112028614 [GRCh38] Chr11:111899338 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1774G>A (p.Ala592Thr)	single nucleotide variant	Inborn genetic diseases [RCV003346915]	Chr11:112061134 [GRCh38] Chr11:111931858 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003333352]	Chr11:112039284 [GRCh38] Chr11:111910008 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.268C>G (p.Pro90Ala)	single nucleotide variant	Inborn genetic diseases [RCV003355018]	Chr11:112025740 [GRCh38] Chr11:111896464 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.9C>T (p.Arg3=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603662]	Chr11:112025481 [GRCh38] Chr11:111896205 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.477C>T (p.Ile159=)	single nucleotide variant	not provided [RCV003396078]	Chr11:112028610 [GRCh38] Chr11:111899334 [GRCh37] Chr11:11q23.1	likely benign
GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	copy number gain	not provided [RCV003484851]	Chr11:111855954..112293098 [GRCh37] Chr11:11q23.1	uncertain significance
Single allele	duplication	not provided [RCV003448710]	Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25	pathogenic
NM_001931.5(DLAT):c.231T>C (p.Leu77=)	single nucleotide variant	not provided [RCV003396077]	Chr11:112025703 [GRCh38] Chr11:111896427 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.757G>T (p.Ala253Ser)	single nucleotide variant	not provided [RCV003441681]	Chr11:112033500 [GRCh38] Chr11:111904224 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003604062]	Chr11:112061055 [GRCh38] Chr11:111931779 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.381+1G>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603261]	Chr11:112026300 [GRCh38] Chr11:111897024 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.891G>A (p.Glu297=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003602848]	Chr11:112037376 [GRCh38] Chr11:111908100 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.723dup (p.Val242fs)	duplication	Pyruvate dehydrogenase E2 deficiency [RCV003603203]	Chr11:112033458..112033459 [GRCh38] Chr11:111904182..111904183 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.1197+11T>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003602739]	Chr11:112043544 [GRCh38] Chr11:111914268 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.976-13T>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003602791]	Chr11:112039231 [GRCh38] Chr11:111909955 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603919]	Chr11:112025618 [GRCh38] Chr11:111896342 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1399-20A>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003604854]	Chr11:112051214 [GRCh38] Chr11:111921938 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603410]	Chr11:112045875 [GRCh38] Chr11:111916599 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.735G>A (p.Lys245=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603653]	Chr11:112033478 [GRCh38] Chr11:111904202 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.660+19G>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003604538]	Chr11:112028964 [GRCh38] Chr11:111899688 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.810T>G (p.Gly270=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003880027]	Chr11:112037295 [GRCh38] Chr11:111908019 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603997]	Chr11:112028853 [GRCh38] Chr11:111899577 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003603673]	Chr11:112028877 [GRCh38] Chr11:111899601 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1515-13dup	duplication	Pyruvate dehydrogenase E2 deficiency [RCV003497754]	Chr11:112059885..112059886 [GRCh38] Chr11:111930609..111930610 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.1291-8G>C	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003498579]	Chr11:112045855 [GRCh38] Chr11:111916579 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.802del (p.Glu268fs)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV003498718]	Chr11:112037286 [GRCh38] Chr11:111908010 [GRCh37] Chr11:11q23.1	pathogenic
NM_001931.5(DLAT):c.382-19C>G	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003498815]	Chr11:112028496 [GRCh38] Chr11:111899220 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003497470]	Chr11:112028914 [GRCh38] Chr11:111899638 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.507-16T>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003499540]	Chr11:112028776 [GRCh38] Chr11:111899500 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.270G>C (p.Pro90=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003499090]	Chr11:112025742 [GRCh38] Chr11:111896466 [GRCh37] Chr11:11q23.1	benign
NM_001931.5(DLAT):c.279+18C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003498707]	Chr11:112025769 [GRCh38] Chr11:111896493 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.486C>G (p.Ile162Met)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003499513]	Chr11:112028619 [GRCh38] Chr11:111899343 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.957A>G (p.Pro319=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003822375]	Chr11:112037442 [GRCh38] Chr11:111908166 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1353T>C (p.Asp451=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV003844150]	Chr11:112045925 [GRCh38] Chr11:111916649 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.107C>G (p.Ser36Trp)	single nucleotide variant	Inborn genetic diseases [RCV004375970]	Chr11:112025579 [GRCh38] Chr11:111896303 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1089G>C (p.Lys363Asn)	single nucleotide variant	Inborn genetic diseases [RCV004375971]	Chr11:112039357 [GRCh38] Chr11:111910081 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1430A>G (p.Asn477Ser)	single nucleotide variant	Inborn genetic diseases [RCV004375975]	Chr11:112051265 [GRCh38] Chr11:111921989 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.926C>T (p.Thr309Ile)	single nucleotide variant	Inborn genetic diseases [RCV004375976]	Chr11:112037411 [GRCh38] Chr11:111908135 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1412G>T (p.Arg471Ile)	single nucleotide variant	Inborn genetic diseases [RCV004375974]	Chr11:112051247 [GRCh38] Chr11:111921971 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1677+9T>G	single nucleotide variant	DLAT-related disorder [RCV003911455]	Chr11:112060074 [GRCh38] Chr11:111930798 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1401A>G (p.Ile467Met)	single nucleotide variant	Inborn genetic diseases [RCV004375973]	Chr11:112051236 [GRCh38] Chr11:111921960 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.1515A>C (p.Gln505His)	single nucleotide variant	not specified [RCV003995040]	Chr11:112059903 [GRCh38] Chr11:111930627 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.476del (p.Ile159fs)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV004547317]	Chr11:112028609 [GRCh38] Chr11:111899333 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.20G>T (p.Arg7Leu)	single nucleotide variant	Inborn genetic diseases [RCV004616494]	Chr11:112025492 [GRCh38] Chr11:111896216 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.235G>T (p.Gly79Trp)	single nucleotide variant	Inborn genetic diseases [RCV004616497]	Chr11:112025707 [GRCh38] Chr11:111896431 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1096G>A (p.Val366Ile)	single nucleotide variant	Inborn genetic diseases [RCV004616492]	Chr11:112039364 [GRCh38] Chr11:111910088 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.523G>C (p.Ala175Pro)	single nucleotide variant	Inborn genetic diseases [RCV004616493]	Chr11:112028808 [GRCh38] Chr11:111899532 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1426G>A (p.Val476Ile)	single nucleotide variant	Inborn genetic diseases [RCV004616495]	Chr11:112051261 [GRCh38] Chr11:111921985 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1933A>G (p.Met645Val)	single nucleotide variant	Inborn genetic diseases [RCV004616496]	Chr11:112062524 [GRCh38] Chr11:111933248 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1907G>C (p.Arg636Thr)	single nucleotide variant	not provided [RCV004798532]	Chr11:112062498 [GRCh38] Chr11:111933222 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.158G>T (p.Gly53Val)	single nucleotide variant	Inborn genetic diseases [RCV004976907]\|Pyruvate dehydrogenase E2 deficiency [RCV005110189]	Chr11:112025630 [GRCh38] Chr11:111896354 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.265C>G (p.Pro89Ala)	single nucleotide variant	Inborn genetic diseases [RCV004976911]	Chr11:112025737 [GRCh38] Chr11:111896461 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1313A>G (p.Gln438Arg)	single nucleotide variant	Inborn genetic diseases [RCV004976913]	Chr11:112045885 [GRCh38] Chr11:111916609 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1777T>G (p.Ser593Ala)	single nucleotide variant	Inborn genetic diseases [RCV004976914]	Chr11:112061137 [GRCh38] Chr11:111931861 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1515-1G>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005044312]	Chr11:112059902 [GRCh38] Chr11:111930626 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.975G>C (p.Pro325=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV004821056]	Chr11:112037460 [GRCh38] Chr11:111908184 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.539C>T (p.Thr180Ile)	single nucleotide variant	Inborn genetic diseases [RCV004976909]	Chr11:112028824 [GRCh38] Chr11:111899548 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1061G>A (p.Arg354Lys)	single nucleotide variant	Inborn genetic diseases [RCV004976910]	Chr11:112039329 [GRCh38] Chr11:111910053 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.878T>C (p.Ile293Thr)	single nucleotide variant	not provided [RCV004820588]	Chr11:112037363 [GRCh38] Chr11:111908087 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1030del (p.Cys344fs)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV005044311]	Chr11:112039298 [GRCh38] Chr11:111910022 [GRCh37] Chr11:11q23.1	likely pathogenic
NM_001931.5(DLAT):c.17C>T (p.Ala6Val)	single nucleotide variant	Inborn genetic diseases [RCV004976912]	Chr11:112025489 [GRCh38] Chr11:111896213 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.1211T>C (p.Val404Ala)	single nucleotide variant	Inborn genetic diseases [RCV004976908]	Chr11:112045151 [GRCh38] Chr11:111915875 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.342_344del (p.Glu115del)	deletion	Pyruvate dehydrogenase E2 deficiency [RCV005208304]	Chr11:112026259..112026261 [GRCh38] Chr11:111896983..111896985 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.572C>G (p.Ala191Gly)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005170452]	Chr11:112028857 [GRCh38] Chr11:111899581 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.953_954inv (p.Val318Ala)	inversion	Pyruvate dehydrogenase E2 deficiency [RCV005105399]\|not provided [RCV005054847]	Chr11:112037438..112037439 [GRCh38] Chr11:111908162..111908163 [GRCh37] Chr11:11q23.1	likely benign\|uncertain significance
NM_001931.5(DLAT):c.1129+9G>A	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005190352]	Chr11:112039406 [GRCh38] Chr11:111910130 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.205C>A (p.Pro69Thr)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005187636]	Chr11:112025677 [GRCh38] Chr11:111896401 [GRCh37] Chr11:11q23.1	uncertain significance
NM_001931.5(DLAT):c.342A>G (p.Lys114=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005157578]	Chr11:112026260 [GRCh38] Chr11:111896984 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.132T>G (p.Arg44=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005184030]	Chr11:112025604 [GRCh38] Chr11:111896328 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.675C>A (p.Ala225=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005078708]	Chr11:112033418 [GRCh38] Chr11:111904142 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.588C>A (p.Thr196=)	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005141323]	Chr11:112028873 [GRCh38] Chr11:111899597 [GRCh37] Chr11:11q23.1	likely benign
NM_001931.5(DLAT):c.661-6C>T	single nucleotide variant	Pyruvate dehydrogenase E2 deficiency [RCV005108329]	Chr11:112033398 [GRCh38] Chr11:111904122 [GRCh37] Chr11:11q23.1	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	2746
Count of miRNA genes:	911
Interacting mature miRNAs:	1071
Transcripts:	ENST00000280346, ENST00000393051, ENST00000527231, ENST00000531306, ENST00000533297, ENST00000537636
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597221416	GWAS1317490_H	BMI-adjusted waist-hip ratio QTL GWAS1317490 (human)		3e-08	body size trait (VT:0100005)		11	112055234	112055235	Human
597254088	GWAS1350162_H	BMI-adjusted waist-hip ratio QTL GWAS1350162 (human)		4e-08	body size trait (VT:0100005)		11	112055234	112055235	Human
1559115	SCL20_H	Serum cholesterol level QTL 20 (human)	3.22	0.001213	Lipid level	LDL cholesterol	11	100442501	126442501	Human

SHGC-30253

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,933,778 - 111,933,915	UniSTS	GRCh37
Build 36	11	111,438,988 - 111,439,125	RGD	NCBI36
Celera	11	109,086,968 - 109,087,105	RGD
Cytogenetic Map	11	q23.1	UniSTS
HuRef	11	107,857,680 - 107,857,818	UniSTS
Stanford-G3 RH Map	11	5269.0	UniSTS
GeneMap99-GB4 RH Map	11	371.36	UniSTS
Whitehead-RH Map	11	513.7	UniSTS
NCBI RH Map	11	1009.2	UniSTS
GeneMap99-G3 RH Map	11	5269.0	UniSTS

DLAT_8300

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,933,455 - 111,934,360	UniSTS	GRCh37
Build 36	11	111,438,665 - 111,439,570	RGD	NCBI36
Celera	11	109,086,645 - 109,087,550	RGD
HuRef	11	107,857,357 - 107,858,263	UniSTS

STS-Y00978

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,933,576 - 111,933,745	UniSTS	GRCh37
Build 36	11	111,438,786 - 111,438,955	RGD	NCBI36
Celera	11	109,086,766 - 109,086,935	RGD
Cytogenetic Map	11	q23.1	UniSTS
HuRef	11	107,857,478 - 107,857,647	UniSTS
GeneMap99-GB4 RH Map	11	371.36	UniSTS

WI-14848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,934,451 - 111,934,551	UniSTS	GRCh37
Build 36	11	111,439,661 - 111,439,761	RGD	NCBI36
Celera	11	109,087,641 - 109,087,741	RGD
Cytogenetic Map	11	q23.1	UniSTS
HuRef	11	107,858,354 - 107,858,454	UniSTS
GeneMap99-GB4 RH Map	11	371.36	UniSTS
Whitehead-RH Map	11	513.7	UniSTS

STS-AA025365

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,900,487 - 111,900,606	UniSTS	GRCh37
Build 36	11	111,405,697 - 111,405,816	RGD	NCBI36
Celera	11	109,053,701 - 109,053,820	RGD
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
GeneMap99-GB4 RH Map	11	371.36	UniSTS

D11S3980

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	111,933,283 - 111,933,623	UniSTS	GRCh37
Build 36	11	111,438,493 - 111,438,833	RGD	NCBI36
Celera	11	109,086,473 - 109,086,813	RGD
Cytogenetic Map	11	q23.1	UniSTS
HuRef	11	107,857,185 - 107,857,525	UniSTS
TNG Radiation Hybrid Map	11	51338.0	UniSTS
Stanford-G3 RH Map	11	4939.0	UniSTS
GeneMap99-GB4 RH Map	11	370.35	UniSTS
Whitehead-RH Map	11	510.4	UniSTS
Whitehead-YAC Contig Map	11		UniSTS
NCBI RH Map	11	1004.0	UniSTS
GeneMap99-G3 RH Map	11	4939.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4972	1726	2351	6	624	1951	465	2269	7304	6470	53	3733	1	851	1743	1617	175	1


RefSeq Transcripts	NG_013342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_164072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF317200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000907	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW188637	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB551427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF444972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X13822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y00978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000280346 ⟹ ENSP00000280346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,408 - 112,064,404 (+)	Ensembl

Ensembl Acc Id:

ENST00000393051 ⟹ ENSP00000376771

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,440 - 112,064,390 (+)	Ensembl

Ensembl Acc Id:

ENST00000527231

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,064,240 (+)	Ensembl

Ensembl Acc Id:

ENST00000531306 ⟹ ENSP00000433432

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,431 - 112,062,861 (+)	Ensembl

Ensembl Acc Id:

ENST00000533297 ⟹ ENSP00000435374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,408 - 112,062,771 (+)	Ensembl

Ensembl Acc Id:

ENST00000679368 ⟹ ENSP00000505314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,431 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000679466

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,053,124 (+)	Ensembl

Ensembl Acc Id:

ENST00000679614 ⟹ ENSP00000506007

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,408 - 112,063,616 (+)	Ensembl

Ensembl Acc Id:

ENST00000679815 ⟹ ENSP00000504880

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,408 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000679829

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,040,861 (+)	Ensembl

Ensembl Acc Id:

ENST00000679878 ⟹ ENSP00000505567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,408 - 112,064,389 (+)	Ensembl

Ensembl Acc Id:

ENST00000680010 ⟹ ENSP00000505768

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000680154

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,042,898 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000680331 ⟹ ENSP00000506707

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,440 - 112,064,389 (+)	Ensembl

Ensembl Acc Id:

ENST00000680411 ⟹ ENSP00000505915

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,977 - 112,064,389 (+)	Ensembl

Ensembl Acc Id:

ENST00000681316 ⟹ ENSP00000506560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000681328 ⟹ ENSP00000506355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000681339 ⟹ ENSP00000506167

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,426 - 112,064,375 (+)	Ensembl

Ensembl Acc Id:

ENST00000681638 ⟹ ENSP00000506090

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,431 - 112,064,389 (+)	Ensembl

Ensembl Acc Id:

ENST00000713569 ⟹ ENSP00000518862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	112,025,033 - 112,063,616 (+)	Ensembl

RefSeq Acc Id:

NM_001372031 ⟹ NP_001358960

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGC
CCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAG
TTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTC
CCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACC
ACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGA
AGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTG
CCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCT
TTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGTTCTTCTTGTCTTTCCAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAG
CTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTT
AATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAAT
GTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGT
CTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAAC
TCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTA
CTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGT
ACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAG
AAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAA
AACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAA
CCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGA
AACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTA
AAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTAC
TTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTAC
TTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATAT
TTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATC
TGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAG
GTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTC
CCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTT
TGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372032 ⟹ NP_001358961

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGT
TGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTG
AGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGC
TCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGA
AACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAG
ATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCA
GCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGACCAGATGGTAGAATCACCAA
GAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTC
GTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGA
AGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGC
GGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATG
AATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCT
GCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACC
TATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTAT
TATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAG
GGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCT
GAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCC
ATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACA
CATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCA
AAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCA
AATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTG
GAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCC
TAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGA
ATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGT
TAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAA
CAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAA
GATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCT
CTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372033 ⟹ NP_001358962

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGC
CCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAG
TTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTC
CCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACC
ACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGA
AGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTG
CCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCT
TTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAG
TTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACATGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGAT
GTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACC
TCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAG
CAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTT
ATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGC
ACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTT
CCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGG
CTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCAT
TTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTT
ATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAA
ATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCAT
TTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTG
TTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTT
TGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTA
CTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGAC
ACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGG
ACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACA
TTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTT
CAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372034 ⟹ NP_001358963

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAG
CCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGG
ATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCT
GCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACA
GGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCG
AAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAG
GGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAG
TAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGC
AATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATC
ATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCAC
ACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCT
CCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTG
GCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCA
AGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTT
ATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCC
TTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCC
TTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGAT
GGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATA
ATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTA
ACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAA
GTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAA
TGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTA
ACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGAC
TTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTT
TCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAA
TTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGT
GGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTA
GAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372035 ⟹ NP_001358964

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGC
CCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAG
TTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTC
CCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACC
ACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGA
AGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTG
CCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTC
AGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGT
TTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGA
ATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGAT
GTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAA
ACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCAT
TACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAA
GTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAG
AGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAG
AAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATA
AACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGT
GAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATG
TAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCT
ACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCT
ACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAAT
ATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAA
TCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTT
AGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGT
TCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTT
TTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372036 ⟹ NP_001358965

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGAT
GTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGC
CACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAG
TGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTC
CCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGC
CGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGA
TTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATG
GCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGG
AGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTT
GGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGAT
GTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACC
TCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAG
CAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTT
ATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGC
ACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTT
CCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGG
CTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCAT
TTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTT
ATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAA
ATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCAT
TTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTG
TTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTT
TGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTA
CTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGAC
ACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGG
ACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACA
TTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTT
CAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372037 ⟹ NP_001358966

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGG
TTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCT
GAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAG
CTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAG
AAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCA
GATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTC
AGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAA
TCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGC
AACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGA
AGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCA
GTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAG
CCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACT
GGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTG
AAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTA
TTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCT
AATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTG
AAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAA
ATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAAT
TCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTT
ACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAAT
GCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAA
CATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAG
AAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATA
AAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATAT
GTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATT
ATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAA
CTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGAT
TCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372038 ⟹ NP_001358967

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTG
GGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCC
TCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCG
CTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATT
GATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGC
ACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAG
AAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGG
ATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGT
TGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTC
AAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCA
GTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTAT
ATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCAC
ATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCC
CTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCT
TGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTT
TCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTAT
TTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAAT
GAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTT
ATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTT
CTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTG
CCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACT
TAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACAC
TCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGAC
CATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATT
GTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCA
ATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372039 ⟹ NP_001358968

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGT
TGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTG
AGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGC
TCATATCCCCCTCACATGCAGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGC
AAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTG
TTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTAT
TACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTT
AAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAA
AAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAG
AATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAG
TTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCAC
ACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAA
ATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGA
AATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAG
AAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAA
ATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGAT
GTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTC
TAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACT
AGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAA
AAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAA
ATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAA
TAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATAT
TCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATC
CAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAA
TAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGAT
TATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372040 ⟹ NP_001358969

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGAGACTTACTGGCAGAGAT
AGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGG
CAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCT
TCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAG
AATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCA
GCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTA
GAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGT
CAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTAC
AGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAA
CTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCT
TGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGT
TATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTC
CTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCT
TGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTG
AAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGA
ATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAG
TTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAA
ATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTA
AACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATA
AGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTA
TAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAAT
ATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTA
TTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAA
AACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCG
ATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372041 ⟹ NP_001358970

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGC
CCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACAC
CTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGT
AGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAAT
CAGCAACATTCGTCGGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAA
GACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACC
AAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGC
AATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGC
TTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGT
GGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACA
CCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACAT
AAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTAC
TTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAG
CTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAA
TTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGA
ATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCT
GAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTC
CAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGG
AAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACC
AGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACAC
AGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATC
CAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTA
ATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001372042 ⟹ NP_001358971

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGTGAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAG
CGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGC
ACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCT
GGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGC
CACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCA
AAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGT
TGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATT
ACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTA
AAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAA
AGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGA
ATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGT
TGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACA
CTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAA
TGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAA
ATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGA
AAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAA
TAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATG
TAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCT
AAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTA
GAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAA
AAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAA
TACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAAT
AAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATT
CATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCC
AAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAAT
AAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATT
ATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NM_001931 ⟹ NP_001922

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
GRCh37	11	111,895,538 - 111,935,002 (+)	ENTREZGENE
Build 36	11	111,401,381 - 111,439,799 (+)	NCBI Archive
HuRef	11	107,819,561 - 107,858,905 (+)	ENTREZGENE
CHM1_1	11	111,778,793 - 111,818,192 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCAC
TATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCG
CTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAGTTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTAT
TACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCACCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGT
TGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTTGTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTG
AGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGCCCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGC
TCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAGTTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGA
AACTGACAAAGCCACTATAGGTTTTGAAGTACAGGAAGAAGGTTATCTGGCAAAAATCCTGGTCCCTGAAGGCACAAGAGATGTCCCTCTAGGAACCCCACTCTGTATCATTGTAGAAAAAGAGGCAG
ATATATCAGCATTTGCTGACTATAGGCCAACCGAAGTAACAGATTTAAAACCACAAGTGCCACCACCTACCCCACCCCCGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACCTTCA
GCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTAGAAT
CACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCA
ACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATTAGAA
GGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATGTCAG
TGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTACAGC
CACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAAACTG
GTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACCTTGA
AAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAGTTAT
TTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACTCCTA
ATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACCTTGA
AGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTTGAAA
TTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATGAATT
CCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACAGTTA
CCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAAAATG
CTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGTAAAC
ATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAATAAGA
AAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATTATAA
AAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAATATG
TGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATTATTA
TGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCAAAAC
TTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATCGATT
CAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence

RefSeq Acc Id:

NR_164072

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,408 - 112,064,404 (+)	NCBI
T2T-CHM13v2.0	11	112,035,650 - 112,074,647 (+)	NCBI

Sequence:

show sequence

GCTGCTCTTGGAGAGGTCACTCCGGAGACGGCGTTGGTTTTGGGGTGTGGGGGGTTGGTGGCACTATGTGGCGCGTCTGTGCGCGACGGGCTCAGAATGTAGCCCCATGGGCGGGACTCGAGGCTCGG
TGGACGGCCTTGCAGGAGGTACCCGGAACTCCACGAGTGACCTCGCGATCTGGCCCGGCTCCCGCTCGTCGCAACAGCGTGACTACAGGGTATGGCGGGGTCCGGGCACTGTGCGGCTGGACCCCCAG
TTCTGGGGCCACGCCGCGGAACCGCTTACTGCTGCAGCTTTTGGGGTCGCCCGGCCGCCGCTATTACAGTCTTCCCCCGCATCAGAAGGTTCCATTGCCTTCTCTTTCCCCCACAATGCAGGCAGGCA
CCATAGCCCGTTGGGAAAAAAAAGAGGGGGACAAAATCAATGAAGGTGACCTAATTGCAGAGGTTGAAACTGATAAAGCCACTGTTGGATTTGAGAGCCTGGAGGAGTGTTATATGGCAAAGATACTT
GTTGCTGAAGGTACCAGGGATGTTCCCATCGGAGCGATCATCTGTATCACAGTTGGCAAGCCTGAGGATATTGAGGCCTTTAAAAATTATACACTGGATTCCTCAGCAGCACCTACCCCACAAGCGGC
CCCAGCACCAACCCCTGCTGCCACTGCTTCGCCACCTACACCTTCTGCTCAGGCTCCTGGTAGCTCATATCCCCCTCACATGCAGGTACTTCTTCCTGCCCTCTCTCCCACCATGACCATGGGCACAG
TTCAGAGATGGGAAAAAAAAGTGGGTGAGAAGCTAAGTGAAGGAGACTTACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTGGCCGCTGTTCCTCCAACTCCCCAGCCTTTAGCTCCTACACC
TTCAGCACCCTGCCCAGCTACTCCTGCTGGACCAAAGGGAAGGGTGTTTGTTAGCCCTCTTGCAAAGAAGTTGGCAGTAGAGAAAGGGATTGATCTTACACAAGTAAAAGGGACAGGACCAGATGGTA
GAATCACCAAGAAGGATATCGACTCTTTTGTGCCTAGTAAAGTTGCTCCTGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATC
AGCAACATTCGTCGGGTTATTGCACAGCGATTAATGCAATCAAAGCAAACCATACCTCATTATTACCTTTCTATCGATGTAAATATGGGAGAAGTTTTGTTGGTACGGAAAGAACTTAATAAGATATT
AGAAGGGAGAAGCAAAATTTCTGTCAATGACTTCATCATAAAAGCTTCAGCTTTGGCATGTTTAAAAGTTCCCGAAGCAAATTCTTCTTGGATGGACACAGTTATAAGACAAAATCATGTTGTTGATG
TCAGTGTTGCGGTCAGTACTCCTGCAGGACTCATCACACCTATTGTGTTTAATGCACATATAAAAGGAGTGGAAACCATTGCTAATGATGTTGTTTCTTTAGCAACCAAAGCAAGAGAGGGTAAACTA
CAGCCACATGAATTCCAGGGTGGCACTTTTACGATCTCCAATTTAGGAATGTTTGGAATTAAGAATTTCTCTGCTATTATTAACCCACCTCAAGCATGTATTTTGGCAATTGGTGCTTCAGAGGATAA
ACTGGTCCCTGCAGATAATGAAAAAGGGTTTGATGTGGCTAGCATGATGTCTGTTACACTCAGTTGTGATCACCGGGTGGTGGATGGAGCAGTTGGAGCCCAGTGGCTTGCTGAGTTTAGAAAGTACC
TTGAAAAACCTATCACTATGTTGTTGTAACTAACTCAAGAATTTCTAAACTCTCCCAGGTCACACTGATTCATTCTTAACAAGATATTTATATGTTATTAAACAGGTGGTTCTTTTTATTTTAACCAG
TTATTTTTATTATTGAGTCTGTCCAGATAAGTTATTTATAATGGGCATTACTGAATTTTTAAAATGCCGATTACACCCAAATATTGTGCACATTTAATAATCAGACACCAGATTTTTAGCTCTGTACT
CCTAATTAAGGGACATGTATGTGGCCTTGCCTAGCCCTTTGGTGATAAGTACTTCCTCTAGGAAATGTACGATAGGTAGAATTGTGGTTCCCTAAAGACAAGTACATAAAGGTGACCCTGATGAAACC
TTGAAGTTCTGAAATTTAACTGCCTAAAATGTTCTCCTTAGATGTGAGAGAAAGAGAAATCAGAAAAATTAATTCTCTTGGGGGAAGGGCTTGAATTGAAGCTTTACTTTAGAATTTAGCCCTGGTTT
GAAATTTTCCATTACATGATCTTGGTTTATCATCGATGGGAAGGGTAGAAAACTTCAAGGAAAATAAGTGAAATTTTAAAAGTCAGCATTTTCTTAGACCTCTTCAGCTGATTGTTTATTTTTCTATG
AATTCCTACACATGGTTATTCCCCCCTACTTGAGATAATCTAAATATAAACCAGCTACTTGATGTAACTGAGAATTTGTGTGGATATTTATTTAAACAAATGTGTAATTTTGAGTACAGAATTCAACA
GTTACCTCCAAAAAAGAAACATTGTTAATATAATTTAACAGAAGTTGTGAAACTAAAATTTTCTAAGATTAACTGGTAGTTCATTGTAAATGAACATAATGAACAGAATTTATGACTCCACTGTGGAA
AATGCTATCAAATAACTAAGGAATATATATGGAATAAGTGTACATATGTAAAATATTGTTACTAGAGTTAGATATGTGCCAAAGTCCATTTATCCCAAATCCTGTCTGAAAAGGAGGGGTACATTGGT
AAACATTTTGGAGTGCTTAAAAATGCCAAAAACAAAATGGTAATTTCTACTTTGATAAAGTAAAAAAGTTAAATGTGTGTAAAAAAGTGTTCTGTGTCCTTCTACTCCAGCATCGTCTCATGTAAAAT
AAGAAAGCCCTAAAATACTATTGGAGAGAAAAAATTAACTAGGTTGCTACTTTATTTGCCTAAATACTTTTTTCTATTTTGTTAGATTTTGCCTTTCTTTTGGAAGGAAGGAGGCGATATTCTGGATT
ATAAAAATGAATTGGGAACATTATCACAATTCCAGACTTTCTATTAATATTTATGTGTTTTAATAAACGTTTGAAATTATTTATGACTACTTAAAATGAATCTGACCAGTGCTTCCTGGTATATGTAA
TATGTGGAGTTAGCCCCTGAAATTTGCTTTAAGTGTTTCAGTGTTGAATCTGTTTCTAAATATTCATTATTACATGGTACACAAGTGACACTCCATATATTCCACACAGACTTTTACCTTGCTGTATT
ATTATGAAAACAATACATTAATTTGATTTTTCAGTAATTAGTAATTTTAGGTTGAAGATTATCCAAAAGAAACAAGCTTATCACAAGGGACCATCATCAATATGATCCAAATCTGGTTCAAACATTCA
AAACTTCAAAGATAATTCATCTTTCGCTAATGCTTGTGGTTCTGTTGTTCCCTTGAAAAAAAATAAAAACAGTTGCCTTCTAATAAACATTGTTGAGTTAAAAATTAATCTGAGCTATAATCTAAATC
GATTCAGTCTCTTACCAGAACTGAAAGAAAAAAGTTAGAAATAGTGTTTTTGGTTCATATGATTATTTAAAAATTAAAGTATAAATCTTCAATATGTCTGGTTTAA

hide sequence


Protein RefSeqs	NP_001358960	(Get FASTA)	NCBI Sequence Viewer
	NP_001358961	(Get FASTA)	NCBI Sequence Viewer
	NP_001358962	(Get FASTA)	NCBI Sequence Viewer
	NP_001358963	(Get FASTA)	NCBI Sequence Viewer
	NP_001358964	(Get FASTA)	NCBI Sequence Viewer
	NP_001358965	(Get FASTA)	NCBI Sequence Viewer
	NP_001358966	(Get FASTA)	NCBI Sequence Viewer
	NP_001358967	(Get FASTA)	NCBI Sequence Viewer
	NP_001358968	(Get FASTA)	NCBI Sequence Viewer
	NP_001358969	(Get FASTA)	NCBI Sequence Viewer
	NP_001358970	(Get FASTA)	NCBI Sequence Viewer
	NP_001358971	(Get FASTA)	NCBI Sequence Viewer
	NP_001922	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG31658	(Get FASTA)	NCBI Sequence Viewer
	AAH39084	(Get FASTA)	NCBI Sequence Viewer
	ACA05975	(Get FASTA)	NCBI Sequence Viewer
	BAD97316	(Get FASTA)	NCBI Sequence Viewer
	BAG51900	(Get FASTA)	NCBI Sequence Viewer
	BAG58983	(Get FASTA)	NCBI Sequence Viewer
	BAG59614	(Get FASTA)	NCBI Sequence Viewer
	BAG61505	(Get FASTA)	NCBI Sequence Viewer
	BAG64858	(Get FASTA)	NCBI Sequence Viewer
	CAA32052	(Get FASTA)	NCBI Sequence Viewer
	CAA68787	(Get FASTA)	NCBI Sequence Viewer
	EAW67174	(Get FASTA)	NCBI Sequence Viewer
	EAW67175	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000280346
	ENSP00000280346.7
	ENSP00000376771
	ENSP00000433432
	ENSP00000505567
	ENSP00000505915
	ENSP00000506007
	ENSP00000506167
	ENSP00000506355
	ENSP00000506560
	ENSP00000506707
	ENSP00000518862.1
GenBank Protein	P10515	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001922 ⟸ NM_001931
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q16783 (UniProtKB/Swiss-Prot), Q53EP3 (UniProtKB/Swiss-Prot), P10515 (UniProtKB/Swiss-Prot), Q86YI5 (UniProtKB/TrEMBL), A0A7P0Z4G4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEV ETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIE TDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRI TKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVS VAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLE KPITMLL hide sequence

RefSeq Acc Id:	NP_001358971 ⟸ NM_001372042
- Peptide Label:	isoform 13
- UniProtKB:	A0A7P0TA47 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001358960 ⟸ NM_001372031
- Peptide Label:	isoform 1 precursor
- UniProtKB:	A0A7P0Z4G4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001358962 ⟸ NM_001372033
- Peptide Label:	isoform 4
- UniProtKB:	A0A7P0TAX2 (UniProtKB/TrEMBL), A0A7P0Z4G4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001358964 ⟸ NM_001372035
- Peptide Label:	isoform 6
- UniProtKB:	A0A7P0TAG1 (UniProtKB/TrEMBL), A0A7P0Z4G4 (UniProtKB/TrEMBL)

Protein Domains

Lipoyl-binding Peripheral subunit-binding (PSBD)

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P10515-F1-model_v2	AlphaFold	P10515	1-647	view protein structure

RGD ID:

6788705

Promoter ID:

HG_KWN:14177

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000258167, UC009YYK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	111,400,181 - 111,401,357 (+)	MPROMDB

RGD ID:

7222135

Promoter ID:

EPDNEW_H16812

Type:

initiation region

Name:

DLAT_1

Description:

dihydrolipoamide S-acetyltransferase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	112,025,411 - 112,025,471	EPDNEW

Database	Acc Id	Source(s)
COSMIC	DLAT	COSMIC
Ensembl Genes	ENSG00000150768	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000280346	ENTREZGENE
	ENST00000280346.11	UniProtKB/Swiss-Prot
	ENST00000393051	ENTREZGENE
	ENST00000531306	ENTREZGENE
	ENST00000679368	ENTREZGENE
	ENST00000679614	ENTREZGENE
	ENST00000679878	ENTREZGENE
	ENST00000680331	ENTREZGENE
	ENST00000680411	ENTREZGENE
	ENST00000681316	ENTREZGENE
	ENST00000681328	ENTREZGENE
	ENST00000681339	ENTREZGENE
	ENST00000713569.1	UniProtKB/Swiss-Prot
Gene3D-CATH	2.40.50.100	UniProtKB/Swiss-Prot
	3.30.559.10	UniProtKB/Swiss-Prot
	4.10.320.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000150768	GTEx
HGNC ID	HGNC:2896	ENTREZGENE
Human Proteome Map	DLAT	Human Proteome Map
InterPro	2-oxoA_DH_lipoyl-BS	UniProtKB/Swiss-Prot
	2-oxoacid_DH_actylTfrase	UniProtKB/Swiss-Prot
	Biotin_lipoyl	UniProtKB/Swiss-Prot
	CAT-like_dom_sf	UniProtKB/Swiss-Prot
	E2/Pdx1	UniProtKB/Swiss-Prot
	E3-bd_dom_sf	UniProtKB/Swiss-Prot
	LAT1	UniProtKB/Swiss-Prot
	PSBD	UniProtKB/Swiss-Prot
	Single_hybrid_motif	UniProtKB/Swiss-Prot
KEGG Report	hsa:1737	UniProtKB/Swiss-Prot
NCBI Gene	1737	ENTREZGENE
OMIM	608770	OMIM
PANTHER	DIHYDROLIPOYLLYSINE-RESIDUE ACETYLTRANSFERASE COMPONENT OF PYRUVATE DEHYDROGENASE COMPLEX, MITOCHONDRIAL	UniProtKB/Swiss-Prot
	PTHR23151	UniProtKB/Swiss-Prot
Pfam	2-oxoacid_dh	UniProtKB/Swiss-Prot
	Biotin_lipoyl	UniProtKB/Swiss-Prot
	E3_binding	UniProtKB/Swiss-Prot
PharmGKB	PA27350	PharmGKB
PROSITE	BIOTINYL_LIPOYL	UniProtKB/Swiss-Prot
	LIPOYL	UniProtKB/Swiss-Prot
	PSBD	UniProtKB/Swiss-Prot
Superfamily-SCOP	CoA-dependent acyltransferases	UniProtKB/Swiss-Prot
	SSF47005	UniProtKB/Swiss-Prot
	SSF51230	UniProtKB/Swiss-Prot
UniProt	A0A7P0T997	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0T9N8_HUMAN	UniProtKB/TrEMBL
	A0A7P0TA47	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0TAG1	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0TAX2	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0TBE2	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0TBK2	ENTREZGENE, UniProtKB/TrEMBL
	A0A7P0Z423_HUMAN	UniProtKB/TrEMBL
	A0A7P0Z459_HUMAN	UniProtKB/TrEMBL
	A0A7P0Z4G4	ENTREZGENE, UniProtKB/TrEMBL
	B4DJX1	ENTREZGENE, UniProtKB/TrEMBL
	B4DLQ2	ENTREZGENE, UniProtKB/TrEMBL
	E9PEJ4	ENTREZGENE, UniProtKB/TrEMBL
	E9PKC7_HUMAN	UniProtKB/TrEMBL
	H0YDD4	ENTREZGENE, UniProtKB/TrEMBL
	ODP2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q16783	ENTREZGENE
	Q53EP3	ENTREZGENE
	Q86YI5	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q16783	UniProtKB/Swiss-Prot
	Q53EP3	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar