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Gene: UPF1 (UPF1 RNA helicase and ATPase) Homo sapiens

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Symbol:

UPF1

Name:

UPF1 RNA helicase and ATPase

RGD ID:

1313946

HGNC Page

HGNC:9962

Description:

Enables several functions, including ATP hydrolysis activity; helicase activity; and telomeric DNA binding activity. Involved in DNA metabolic process; cell cycle phase transition; and regulation of macromolecule metabolic process. Located in chromosome; cytosol; and nucleoplasm. Part of exon-exon junction complex and supraspliceosomal complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATP-dependent helicase RENT1; delta helicase; FLJ43809; FLJ46894; HUPF1; KIAA0221; nonsense mRNA reducing factor 1; NORF1; pNORF1; regulator of nonsense transcripts 1; RENT1; smg-2; smg-2 homolog, nonsense mediated mRNA decay factor; UP Frameshift 1; up-frameshift mutation 1 homolog; up-frameshift suppressor 1 homolog; UPF1 regulator of nonsense transcripts homolog; UPF1 regulator of nonsense transcripts homolog (yeast); UPF1, RNA helicase and ATPase; UTF; yeast Upf1p homolog

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):	Upf1 (UPF1 RNA helicase and ATPase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Upf1 (UPF1, RNA helicase and ATPase)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Upf1 (UPF1 RNA helicase and ATPase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	UPF1 (UPF1 RNA helicase and ATPase)	NCBI	Ortholog
Canis lupus familiaris (dog):	UPF1 (UPF1 RNA helicase and ATPase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Upf1 (UPF1 RNA helicase and ATPase)	NCBI	Ortholog
Sus scrofa (pig):	UPF1 (UPF1 RNA helicase and ATPase)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	UPF1 (UPF1 RNA helicase and ATPase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Upf1 (UPF1 RNA helicase and ATPase)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Upf1 (UPF1 RNA helicase and ATPase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Upf1 (UPF1, RNA helicase and ATPase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	upf1 (UPF1 RNA helicase and ATPase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	NAM7	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Upf1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	smg-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	upf1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	upf1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	upf1.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	19	18,831,959 - 18,868,230 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,831,959 - 18,868,230 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	18,942,768 - 18,979,039 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,803,744 - 18,840,039 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,803,787 - 18,840,038	NCBI
Celera	19	18,847,541 - 18,883,840 (+)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,507,089 - 18,543,390 (+)	NCBI		HuRef
CHM1_1	19	18,942,555 - 18,978,848 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UPF1	Human	autistic disorder		IAGP	RGD:401720101	8554872	ClinVar Annotator: match by term: Autistic behavior	ClinVar	PMID:25741868
UPF1	Human	Developmental Disease		IAGP	RGD:151716967	8554872	ClinVar Annotator: match by term: Developmental disorder	ClinVar	PMID:25741868
UPF1	Human	dextro-looped transposition of the great arteries		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: Transposition of the great arteries	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877
UPF1	Human	Hypertelorism		IAGP	RGD:598122720\|RGD:598122721	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:25741868
UPF1	Human	intellectual disability		IAGP	RGD:38459367	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
UPF1	Human	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		IAGP	RGD:156445351	8554872	ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	ClinVar	PMID:28492532
UPF1	Human	multiple types of congenital heart defects 6		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877
UPF1	Human	progressive myoclonus epilepsy 8		IAGP	RGD:151831536	8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8	ClinVar	PMID:28492532
UPF1	Human	right atrial isomerism		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: Right atrial isomerism	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877
UPF1	Human	visceral heterotaxy		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: GDF1-related condition	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UPF1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1313947	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of UPF1 mRNA	CTD	PMID:22206623
UPF1	Human	17alpha-ethynylestradiol	affects expression	ISO	RGD:1313947	6480464	Ethinyl Estradiol affects the expression of UPF1 mRNA	CTD	PMID:17555576
UPF1	Human	17alpha-ethynylestradiol	multiple interactions	ISO	RGD:1313947	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of UPF1 mRNA	CTD	PMID:17942748
UPF1	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol binds to ESR2 protein] which results in increased expression of UPF1 mRNA	CTD	PMID:20404318
UPF1	Human	17beta-estradiol	decreases expression	ISO	RGD:1313947	6480464	Estradiol results in decreased expression of UPF1 mRNA	CTD	PMID:39298647
UPF1	Human	17beta-hydroxy-17-methylestra-4,9,11-trien-3-one	multiple interactions	EXP		6480464	Metribolone promotes the reaction [NDRG1 protein binds to UPF1 protein]	CTD	PMID:17220478
UPF1	Human	2,2',4,4'-Tetrabromodiphenyl ether	decreases expression	EXP		6480464	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of UPF1 protein	CTD	PMID:31675489
UPF1	Human	2,2'-Methylenebis(4-methyl-6-tert-butylphenol)	multiple interactions	EXP		6480464	[CYP3A4 protein affects the susceptibility to 2,2'-methylenebis(4-methyl-6-tert-butylphenol)] which affects the expression of UPF1 mRNA	CTD	PMID:38160208
UPF1	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	RGD:1313947	6480464	2,3',4,4',5-pentachlorobiphenyl results in increased expression of UPF1 mRNA	CTD	PMID:31388691
UPF1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1313947	6480464	Tetrachlorodibenzodioxin affects the expression of UPF1 mRNA	CTD	PMID:21570461
UPF1	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1313947	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of UPF1 mRNA	CTD	PMID:17942748
UPF1	Human	2,4,6-tribromophenol	decreases expression	EXP		6480464	2,4,6-tribromophenol results in decreased expression of UPF1 mRNA	CTD	PMID:31675489
UPF1	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1,3-dimethyl ether] results in increased expression of and affects the more ...	CTD	PMID:38598786
UPF1	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of UPF1 mRNA	CTD	PMID:21179406
UPF1	Human	3,3',5,5'-tetrabromobisphenol A	decreases expression	EXP		6480464	tetrabromobisphenol A results in decreased expression of UPF1 protein	CTD	PMID:31675489
UPF1	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	RGD:1313947	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of UPF1 mRNA	CTD	PMID:20188158
UPF1	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of UPF1 gene	CTD	PMID:31601247
UPF1	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of UPF1 protein	CTD	PMID:34186270
UPF1	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	RGD:1313947	6480464	bisphenol S affects the methylation of UPF1 gene	CTD	PMID:31683443
UPF1	Human	acrylamide	decreases expression	ISO	RGD:1589127	6480464	Acrylamide results in decreased expression of UPF1 mRNA	CTD	PMID:28959563
UPF1	Human	afimoxifene	increases expression	EXP		6480464	afimoxifene results in increased expression of UPF1 mRNA	CTD	PMID:16849584
UPF1	Human	aflatoxin B1	increases expression	ISO	RGD:1313947	6480464	Aflatoxin B1 results in increased expression of UPF1 mRNA	CTD	PMID:19770486
UPF1	Human	amlexanox	affects localization	EXP		6480464	amlexanox affects the localization of UPF1 protein	CTD	PMID:28743738
UPF1	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of UPF1 mRNA	CTD	PMID:33212167
UPF1	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of UPF1 gene	CTD	PMID:25304211
UPF1	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of UPF1 gene	CTD	PMID:25304211
UPF1	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:1313947	6480464	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of UPF1 mRNA]; Benzo(a)pyrene promotes the more ...	CTD	PMID:19654925\|PMID:22228805
UPF1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of UPF1 3' UTR	CTD	PMID:27901495
UPF1	Human	benzo[a]pyrene	increases expression	ISO	RGD:1313947	6480464	Benzo(a)pyrene results in increased expression of UPF1 mRNA	CTD	PMID:19770486\|PMID:22228805
UPF1	Human	bisphenol A	increases expression	ISO	RGD:1589127	6480464	bisphenol A results in increased expression of UPF1 mRNA	CTD	PMID:25181051
UPF1	Human	bisphenol A	affects methylation	EXP		6480464	bisphenol A affects the methylation of UPF1 promoter	CTD	PMID:36572933
UPF1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of UPF1 protein	CTD	PMID:34186270
UPF1	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of UPF1 protein	CTD	PMID:31675489
UPF1	Human	bisphenol A	increases expression	ISO	RGD:1313947	6480464	bisphenol A results in increased expression of UPF1 mRNA	CTD	PMID:33221593
UPF1	Human	Bisphenol A diglycidyl ether	affects splicing	ISO	RGD:1313947	6480464	bisphenol A diglycidyl ether affects the splicing of UPF1 mRNA	CTD	PMID:36464114
UPF1	Human	bisphenol AF	affects splicing	ISO	RGD:1313947	6480464	bisphenol AF affects the splicing of UPF1 mRNA	CTD	PMID:36464114
UPF1	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of UPF1 more ...	CTD	PMID:35301059
UPF1	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of UPF1 more ...	CTD	PMID:35301059
UPF1	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of UPF1 protein	CTD	PMID:35688186
UPF1	Human	camptothecin	decreases response to substance	EXP		6480464	UPF1 mRNA results in decreased susceptibility to Camptothecin	CTD	PMID:25269479
UPF1	Human	carmustine	decreases expression	EXP		6480464	Carmustine results in decreased expression of UPF1 mRNA	CTD	PMID:15980968
UPF1	Human	chlorpyrifos	decreases expression	ISO	RGD:1313947	6480464	Chlorpyrifos results in decreased expression of UPF1 mRNA	CTD	PMID:37019170
UPF1	Human	choline	multiple interactions	ISO	RGD:1313947	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation more ...	CTD	PMID:20938992
UPF1	Human	coumarin	decreases phosphorylation	EXP		6480464	coumarin results in decreased phosphorylation of UPF1 protein	CTD	PMID:35688186
UPF1	Human	cyclosporin A	decreases expression	ISO	RGD:1313947	6480464	Cyclosporine results in decreased expression of UPF1 mRNA	CTD	PMID:19770486
UPF1	Human	cytochalasin D	affects localization	EXP		6480464	Cytochalasin D affects the localization of UPF1 protein	CTD	PMID:28743738
UPF1	Human	cytochalasin D	multiple interactions	EXP		6480464	Cytochalasin D inhibits the reaction [UPF1 protein binds to ACTG1 protein]	CTD	PMID:28743738
UPF1	Human	DDE	decreases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in decreased expression of UPF1 mRNA	CTD	PMID:38568856
UPF1	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of UPF1 gene	CTD	PMID:22964155
UPF1	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of UPF1 mRNA	CTD	PMID:28302478
UPF1	Human	ethanol	affects splicing	ISO	RGD:1313947	6480464	Ethanol affects the splicing of UPF1 mRNA	CTD	PMID:30319688
UPF1	Human	folic acid	multiple interactions	ISO	RGD:1313947	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of UPF1 mRNA; [Methionine deficiency co-treated more ...	CTD	PMID:20938992\|PMID:22206623
UPF1	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of UPF1 protein	CTD	PMID:37730182
UPF1	Human	furfural	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in decreased expression of and affects the localization of more ...	CTD	PMID:38598786
UPF1	Human	geneticin	affects localization	EXP		6480464	antibiotic G 418 affects the localization of UPF1 protein	CTD	PMID:28743738
UPF1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of UPF1 protein	CTD	PMID:32959892
UPF1	Human	jaspamide	multiple interactions	EXP		6480464	jasplakinolide inhibits the reaction [UPF1 protein binds to ACTG1 protein]	CTD	PMID:28743738
UPF1	Human	jaspamide	affects localization	EXP		6480464	jasplakinolide affects the localization of UPF1 protein	CTD	PMID:28743738
UPF1	Human	L-methionine	multiple interactions	ISO	RGD:1313947	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation more ...	CTD	PMID:20938992
UPF1	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of UPF1 mRNA	CTD	PMID:23649840
UPF1	Human	mono(2-ethylhexyl) phthalate	decreases expression	ISO	RGD:1313947	6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of UPF1 mRNA	CTD	PMID:22401849
UPF1	Human	N-ethyl-N-nitrosourea	increases mutagenesis	ISO	RGD:1313947	6480464	Ethylnitrosourea results in increased mutagenesis of UPF1 intron	CTD	PMID:27776689
UPF1	Human	nitrates	multiple interactions	ISO	RGD:1313947	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of UPF1 more ...	CTD	PMID:35964746
UPF1	Human	ozone	multiple interactions	ISO	RGD:1313947	6480464	[Air Pollutants results in increased abundance of Ozone] which results in increased expression of UPF1 more ...	CTD	PMID:34911549
UPF1	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of UPF1 mRNA	CTD	PMID:35430440
UPF1	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of UPF1 protein	CTD	PMID:26879310
UPF1	Human	pirinixic acid	decreases expression	ISO	RGD:1313947	6480464	pirinixic acid results in decreased expression of UPF1 mRNA	CTD	PMID:18445702
UPF1	Human	raloxifene	affects expression	EXP		6480464	Raloxifene Hydrochloride affects the expression of UPF1 mRNA	CTD	PMID:14699072
UPF1	Human	raloxifene	multiple interactions	EXP		6480464	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of UPF1 mRNA	CTD	PMID:19059307
UPF1	Human	rotenone	decreases expression	EXP		6480464	Rotenone results in decreased expression of UPF1 mRNA	CTD	PMID:29955902
UPF1	Human	sodium arsenite	affects expression	EXP		6480464	sodium arsenite affects the expression of UPF1 mRNA	CTD	PMID:29319823
UPF1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of UPF1 protein	CTD	PMID:30528433
UPF1	Human	sodium arsenite	multiple interactions	EXP		6480464	sodium arsenite inhibits the reaction [UPF1 protein binds to Ribonucleotides]	CTD	PMID:30528433
UPF1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of UPF1 mRNA	CTD	PMID:34032870
UPF1	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in decreased expression of and affects the localization of more ...	CTD	PMID:38598786
UPF1	Human	sodium fluoride	increases expression	ISO	RGD:1313947	6480464	Sodium Fluoride results in increased expression of UPF1 mRNA	CTD	PMID:27862939
UPF1	Human	tamoxifen	affects expression	EXP		6480464	Tamoxifen affects the expression of UPF1 mRNA	CTD	PMID:14699072
UPF1	Human	tamoxifen	multiple interactions	EXP		6480464	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of UPF1 mRNA	CTD	PMID:19059307
UPF1	Human	tetrachloromethane	increases expression	ISO	RGD:1313947	6480464	Carbon Tetrachloride results in increased expression of UPF1 mRNA	CTD	PMID:31919559
UPF1	Human	thimerosal	decreases expression	EXP		6480464	Thimerosal results in decreased expression of UPF1 mRNA	CTD	PMID:27188386
UPF1	Human	thioacetamide	increases expression	ISO	RGD:1589127	6480464	Thioacetamide results in increased expression of UPF1 mRNA	CTD	PMID:34492290
UPF1	Human	titanium dioxide	increases methylation	ISO	RGD:1313947	6480464	titanium dioxide results in increased methylation of UPF1 gene	CTD	PMID:35295148
UPF1	Human	torcetrapib	increases expression	EXP		6480464	torcetrapib results in increased expression of UPF1 mRNA	CTD	PMID:23228038
UPF1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of UPF1 mRNA	CTD	PMID:37042841
UPF1	Human	triptonide	decreases expression	ISO	RGD:1313947	6480464	triptonide results in decreased expression of UPF1 mRNA	CTD	PMID:33045310
UPF1	Human	troglitazone	decreases expression	ISO	RGD:1313947	6480464	troglitazone results in decreased expression of UPF1 mRNA	CTD	PMID:28973697
UPF1	Human	trovafloxacin	increases expression	ISO	RGD:1313947	6480464	trovafloxacin results in increased expression of UPF1 mRNA	CTD	PMID:35537566
UPF1	Human	tungsten	decreases expression	ISO	RGD:1313947	6480464	Tungsten results in decreased expression of UPF1 mRNA	CTD	PMID:30912803
UPF1	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of UPF1 mRNA	CTD	PMID:28818685
UPF1	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of UPF1 gene	CTD	PMID:29154799
UPF1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of UPF1 mRNA	CTD	PMID:25979313
UPF1	Human	vinclozolin	decreases expression	ISO	RGD:1589127	6480464	vinclozolin results in decreased expression of UPF1 mRNA	CTD	PMID:23034163
UPF1	Human	zinc atom	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of UPF1 mRNA	CTD	PMID:18593933
UPF1	Human	zinc(0)	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of UPF1 mRNA	CTD	PMID:18593933

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)
UPF1	Human	3'-UTR-mediated mRNA destabilization	involved_in	IDA		150520179	PMID:24726324	UniProt	PMID:24726324
UPF1	Human	3'-UTR-mediated mRNA destabilization	involved_in	TAS		150520179	PMID:26255671	UniProt	PMID:26255671
UPF1	Human	cell cycle phase transition	involved_in	IMP		150520179	PMID:16488880	UniProt	PMID:16488880
UPF1	Human	cellular response to interleukin-1	involved_in	TAS		150520179	PMID:26255671	UniProt	PMID:26255671
UPF1	Human	cellular response to lipopolysaccharide	involved_in	TAS		150520179	PMID:26255671	UniProt	PMID:26255671
UPF1	Human	DNA repair	involved_in	IDA		150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	DNA replication	involved_in	IMP		150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	histone mRNA catabolic process	involved_in	IMP		150520179	PMID:16086026	UniProt	PMID:16086026
UPF1	Human	mRNA export from nucleus	involved_in	TAS		150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	nuclear-transcribed mRNA catabolic process	involved_in	IMP		150520179	PMID:23828042	UniProt	PMID:23828042
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	NAS		150520179	PMID:10999600	UniProt	PMID:10999600
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	TAS		150520179	PMID:26255671, PMID:8855285	UniProt	PMID:26255671\|PMID:8855285
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IEA	InterPro:IPR018999	150520179		InterPro	GO_REF:0000002
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IMP		150520179	PMID:18369367	UniProt	PMID:18369367
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IDA		150520179	PMID:17468741	UniProt	PMID:17468741
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IEA	UniProtKB-KW:KW-0866	150520179		UniProt	GO_REF:0000043
UPF1	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IBA	FB:FBgn0030354\|PANTHER:PTN000094512\|PomBase:SPAC16C9.06c\|SGD:S000004685\|TAIR:locus:2171007\|UniProtKB:Q92900\|WB:WBGene00004880\|ZFIN:ZDB-GENE-040426-2836	150520179		GO_Central	GO_REF:0000033
UPF1	Human	positive regulation of mRNA catabolic process	involved_in	IDA		150520179	PMID:24726324	UniProt	PMID:24726324
UPF1	Human	positive regulation of mRNA catabolic process	involved_in	IMP		150520179	PMID:25225333	CAFA	PMID:25225333
UPF1	Human	positive regulation of mRNA cis splicing, via spliceosome	acts_upstream_of_or_within	IEA	UniProtKB:Q9EPU0\|ensembl:ENSMUSP00000148927	150520179		Ensembl	GO_REF:0000107
UPF1	Human	random inactivation of X chromosome	acts_upstream_of_or_within	ISO	RGD:1313947	9068941	PMID:16789828	MGI	PMID:16789828
UPF1	Human	regulation of gene expression	involved_in	IEA	ARBA:ARBA00028334	150520179		UniProt	GO_REF:0000117
UPF1	Human	regulation of telomere maintenance	involved_in	IMP		150520179	PMID:17916692	BHF-UCL	PMID:17916692
UPF1	Human	regulation of translational termination	involved_in	IMP		150520179	PMID:9620853	UniProt	PMID:9620853
UPF1	Human	regulation of translational termination	involved_in	NAS		150520179	PMID:10999600	UniProt	PMID:10999600
UPF1	Human	telomere maintenance via semi-conservative replication	involved_in	IDA		150520179	PMID:21829167	BHF-UCL	PMID:21829167

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UPF1	Human	chromatin	located_in	IDA		150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	chromosome, telomeric region	located_in	IDA		150520179	PMID:21829167	BHF-UCL	PMID:21829167
UPF1	Human	cytoplasm	located_in	NAS		150520179	PMID:9064659	UniProt	PMID:9064659
UPF1	Human	cytoplasm	located_in	IEA	InterPro:IPR018999	150520179		InterPro	GO_REF:0000002
UPF1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
UPF1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
UPF1	Human	cytoplasm	is_active_in	IBA	FB:FBgn0030354\|PANTHER:PTN000094512\|SGD:S000000978\|TAIR:locus:2171007\|UniProtKB:Q582F1\|UniProtKB:Q92900\|WB:WBGene00004880	150520179		GO_Central	GO_REF:0000033
UPF1	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
UPF1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-927789\|Reactome:R-HSA-927813\|Reactome:R-HSA-927830\|Reactome:R-HSA-927832\|Reactome:R-HSA-927836\|Reactome:R-HSA-927889
UPF1	Human	exon-exon junction complex	part_of	IDA		150520179	PMID:16601204	UniProt	PMID:16601204
UPF1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
UPF1	Human	nucleus	located_in	IDA		150520179	PMID:18362360	UniProt	PMID:18362360
UPF1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
UPF1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
UPF1	Human	P-body	located_in	IEA	UniProtKB-SubCell:SL-0230	150520179		UniProt	GO_REF:0000044
UPF1	Human	perinuclear region of cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0198	150520179		UniProt	GO_REF:0000044
UPF1	Human	supraspliceosomal complex	part_of	IDA		150520179	PMID:18362360	UniProt	PMID:18362360

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)
UPF1	Human	ATP binding	enables	IEA	InterPro:IPR006935\|InterPro:IPR018999	150520179		InterPro	GO_REF:0000002
UPF1	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
UPF1	Human	ATP hydrolysis activity	enables	IDA		150520179	PMID:30218034	UniProt	PMID:30218034
UPF1	Human	ATP hydrolysis activity	enables	IEA	RHEA:13065	150520179		RHEA	GO_REF:0000116
UPF1	Human	chromatin binding	enables	IDA		150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	DNA binding	enables	IEA	InterPro:IPR006935	150520179		InterPro	GO_REF:0000002
UPF1	Human	double-stranded DNA helicase activity	enables	IDA		150520179	PMID:30218034	UniProt	PMID:30218034
UPF1	Human	helicase activity	enables	IEA	InterPro:IPR041677	150520179		InterPro	GO_REF:0000002
UPF1	Human	helicase activity	enables	IEA	UniProtKB-KW:KW-0347	150520179		UniProt	GO_REF:0000043
UPF1	Human	helicase activity	enables	NAS		150520179	PMID:9064659	UniProt	PMID:9064659
UPF1	Human	hydrolase activity	enables	IEA	InterPro:IPR006935	150520179		InterPro	GO_REF:0000002
UPF1	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
UPF1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
UPF1	Human	metal ion binding	enables	IEA	UniRule:UR001683355	150520179		UniProt	GO_REF:0000104
UPF1	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9NPJ4	150520179	PMID:19150429	UniProt	PMID:19150429
UPF1	Human	protein binding	enables	IPI	UniProtKB:P19712-PRO_0000038050	150520179	PMID:24965446	AgBase	PMID:24965446
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q14147	150520179	PMID:26841701	UniProt	PMID:26841701
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q14493	150520179	PMID:16086026	UniProt	PMID:16086026
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q96Q15	150520179	PMID:11544179	UniProt	PMID:11544179
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q92540\|UniProtKB:Q9UPR3	150520179	PMID:14636577	HGNC-UCL	PMID:14636577
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q5D1E7	150520179	PMID:26000482, PMID:26255671	UniProt	PMID:26000482\|PMID:26255671
UPF1	Human	protein binding	enables	IPI	UniProtKB:P55265	150520179	PMID:18362360	IntAct	PMID:18362360
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q86US8\|UniProtKB:Q9HAU5\|UniProtKB:Q9UPR3	150520179	PMID:21145460	IntAct	PMID:21145460
UPF1	Human	protein binding	enables	IPI	UniProtKB:O14746\|UniProtKB:Q96AP0	150520179	PMID:21829167	IntAct	PMID:21829167
UPF1	Human	protein binding	enables	IPI	UniProtKB:O14746\|UniProtKB:O14773	150520179	PMID:21829167	BHF-UCL	PMID:21829167
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9NUL5	150520179	PMID:27974568	UniProt	PMID:27974568
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9HAU5	150520179	PMID:16452507, PMID:17468741, PMID:17469741, PMID:18066079, PMID:19503078, PMID:19556969	IntAct	PMID:16452507\|PMID:17468741\|PMID:17469741\|PMID:18066079\|PMID:19503078\|PMID:19556969
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q16630\|UniProtKB:Q9BZI7	150520179	PMID:19864460	UniProt	PMID:19864460
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q86US8	150520179	PMID:20930030	UniProt	PMID:20930030
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q92540	150520179	PMID:23348841	IntAct	PMID:23348841
UPF1	Human	protein binding	enables	IPI	UniProtKB:P17844	150520179	PMID:23788676	UniProt	PMID:23788676
UPF1	Human	protein binding	enables	IPI	UniProtKB:O95793	150520179	PMID:23722113	IntAct	PMID:23722113
UPF1	Human	protein binding	enables	IPI	UniProtKB:P15170\|UniProtKB:P62495	150520179	PMID:9620853	UniProt	PMID:9620853
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9HCE1	150520179	PMID:24726324	UniProt	PMID:24726324
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q14152	150520179	PMID:18423202	IntAct	PMID:18423202
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9UKV8\|UniProtKB:Q9UL18	150520179	PMID:17932509	UniProt	PMID:17932509
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9HAU5\|UniProtKB:Q9NPI6\|UniProtKB:Q9NPJ4	150520179	PMID:19150429	IntAct	PMID:19150429
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9BZI7	150520179	PMID:16601204	IntAct	PMID:16601204
UPF1	Human	protein binding	enables	IPI	UniProtKB:P11940\|UniProtKB:Q14147\|UniProtKB:Q9HAU5	150520179	PMID:25220460	UniProt	PMID:25220460
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9BZI7\|UniProtKB:Q9HAU5	150520179	PMID:19417104, PMID:19478851	IntAct	PMID:19417104\|PMID:19478851
UPF1	Human	protein binding	enables	IPI	UniProtKB:P13639\|UniProtKB:P62753\|UniProtKB:P62913	150520179	PMID:19417104	UniProt	PMID:19417104
UPF1	Human	protein binding	enables	IPI	UniProtKB:P54098\|UniProtKB:Q9HAU5	150520179	PMID:16488880	HGNC-UCL	PMID:16488880
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q8IU60\|UniProtKB:Q9BZI7\|UniProtKB:Q9H1J1\|UniProtKB:Q9HAU5\|UniProtKB:Q9NPI6	150520179	PMID:12417715	IntAct	PMID:12417715
UPF1	Human	protein binding	enables	IPI	UniProtKB:P15170\|UniProtKB:Q9HAU5	150520179	PMID:18256688	IntAct	PMID:18256688
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9UN81	150520179	PMID:24267889	IntAct	PMID:24267889
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q8IU60\|UniProtKB:Q9NPI6	150520179	PMID:16364915	IntAct	PMID:16364915
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q13835\|UniProtKB:Q9Y446	150520179	PMID:25225333	CAFA	PMID:25225333
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q9BZI7\|UniProtKB:Q9H1J1\|UniProtKB:Q9HAU5	150520179	PMID:11163187	IntAct	PMID:11163187
UPF1	Human	protein binding	enables	IPI	UniProtKB:O95793\|UniProtKB:Q9BZI7\|UniProtKB:Q9HAU5	150520179	PMID:15680326	IntAct	PMID:15680326
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q08491	150520179	PMID:12881429	IntAct	PMID:12881429
UPF1	Human	protein binding	enables	IPI	UniProtKB:O95793\|UniProtKB:P15170\|UniProtKB:Q92540\|UniProtKB:Q9BZI7\|UniProtKB:Q9HAU5\|UniProtKB:Q9NZB2	150520179	PMID:35271311	IntAct	PMID:35271311
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q8IYD1	150520179	PMID:18447585	IntAct	PMID:18447585
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q14493\|UniProtKB:Q9HAU5	150520179	PMID:16086026	IntAct	PMID:16086026
UPF1	Human	protein binding	enables	IPI	UniProtKB:Q8IYD1\|UniProtKB:Q9NZB2	150520179	PMID:33961781	IntAct	PMID:33961781
UPF1	Human	protein-containing complex binding	enables	IPI	UniProtKB:Q8ND04,UniProtKB:Q96Q15,UniProtKB:Q9H0W8	150520179	PMID:26841701	UniProt	PMID:26841701
UPF1	Human	RNA binding	enables	HDA		150520179	PMID:22658674, PMID:22681889	UniProt	PMID:22658674\|PMID:22681889
UPF1	Human	RNA binding	enables	IBA	FB:FBgn0034187\|FB:FBgn0041164\|MGI:1891384\|MGI:2138982\|PANTHER:PTN008507816\|PomBase:SPCC1739.03\|TAIR:locus:2015596\|TAIR:locus:2064158\|UniProtKB:O60306\|UniProtKB:Q92900\|UniProtKB:Q9HCE1	150520179		GO_Central	GO_REF:0000033
UPF1	Human	RNA binding	enables	IEA	UniProtKB-KW:KW-0694	150520179		UniProt	GO_REF:0000043
UPF1	Human	RNA binding	enables	NAS		150520179	PMID:10999600	UniProt	PMID:10999600
UPF1	Human	RNA binding	enables	IDA		150520179	PMID:24726324	UniProt	PMID:24726324
UPF1	Human	RNA binding	enables	IEA	InterPro:IPR018999	150520179		InterPro	GO_REF:0000002
UPF1	Human	RNA helicase activity	enables	IDA		150520179	PMID:12554878, PMID:21419344	UniProt	PMID:12554878\|PMID:21419344
UPF1	Human	RNA helicase activity	enables	IBA	PANTHER:PTN000094512\|SGD:S000004685\|UniProtKB:Q92900	150520179		GO_Central	GO_REF:0000033
UPF1	Human	RNA helicase activity	enables	IEA	InterPro:IPR018999	150520179		InterPro	GO_REF:0000002
UPF1	Human	telomeric DNA binding	enables	IDA		150520179	PMID:17916692, PMID:21829167	BHF-UCL	PMID:17916692\|PMID:21829167
UPF1	Human	zinc ion binding	enables	IEA	UniRule:UR001683355	150520179		UniProt	GO_REF:0000104
UPF1	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043
UPF1	Human	zinc ion binding	enables	IEA	InterPro:IPR018999	150520179		InterPro	GO_REF:0000002

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UPF1	Human	mRNA decay pathway		IEA		6907045		KEGG	hsa:03015

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UPF1	Human	Autistic behavior		IAGP	RGD:401720101	8554872	ClinVar Annotator: match by term: Autistic behavior	ClinVar	PMID:25741868
UPF1	Human	Hypertelorism		IAGP	RGD:598122720	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:25741868
UPF1	Human	Hypertelorism		IAGP	RGD:598122721	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:25741868
UPF1	Human	Intellectual disability		IAGP	RGD:38459367	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
UPF1	Human	Right atrial isomerism		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: Right atrial isomerism	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877
UPF1	Human	Transposition of the great arteries		IAGP	RGD:8597247	8554872	ClinVar Annotator: match by term: Transposition of the great arteries	ClinVar	PMID:14648004\|PMID:1792434\|PMID:17924340\|PMID:17936261\|PMID:20413652\|PMID:25741868\|PMID:28492532\|PMID:28991257\|PMID:32144877

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:6200476	PMID:8855285	PMID:8889548	PMID:9039502	PMID:9064659	PMID:9620853	PMID:10454541	PMID:10999600	PMID:11073994	PMID:11113196	PMID:11163187	PMID:11331269
PMID:11544179	PMID:11546874	PMID:12000843	PMID:12228722	PMID:12417715	PMID:12477932	PMID:12554878	PMID:12723973	PMID:12881429	PMID:14527413	PMID:14636577	PMID:15057824
PMID:15106121	PMID:15175154	PMID:15231747	PMID:15489334	PMID:15680326	PMID:15721257	PMID:16086026	PMID:16186820	PMID:16364915	PMID:16452507	PMID:16488880	PMID:16601204
PMID:16861888	PMID:16931876	PMID:17159905	PMID:17220478	PMID:17456004	PMID:17468741	PMID:17469741	PMID:17803942	PMID:17916692	PMID:17932509	PMID:18066079	PMID:18256688
PMID:18362360	PMID:18369187	PMID:18369367	PMID:18423202	PMID:18427545	PMID:18447585	PMID:18774934	PMID:19150429	PMID:19417104	PMID:19478851	PMID:19503078	PMID:19542561
PMID:19553310	PMID:19556969	PMID:19704008	PMID:19738201	PMID:19864460	PMID:20020773	PMID:20371770	PMID:20467437	PMID:20691628	PMID:20930030	PMID:20946641	PMID:21029861
PMID:21081503	PMID:21081666	PMID:21145460	PMID:21145461	PMID:21182205	PMID:21319273	PMID:21419344	PMID:21541368	PMID:21749700	PMID:21829167	PMID:21873635	PMID:21900206
PMID:22087843	PMID:22156744	PMID:22522823	PMID:22553336	PMID:22586326	PMID:22622014	PMID:22623428	PMID:22658674	PMID:22681889	PMID:22817733	PMID:22889941	PMID:22939629
PMID:22944692	PMID:23125841	PMID:23275559	PMID:23305486	PMID:23348841	PMID:23404710	PMID:23444366	PMID:23642263	PMID:23663784	PMID:23665581	PMID:23722113	PMID:23785196
PMID:23788676	PMID:23825951	PMID:23826386	PMID:23828042	PMID:23832275	PMID:23858473	PMID:23881279	PMID:24173962	PMID:24267889	PMID:24457600	PMID:24726324	PMID:24762188
PMID:24778252	PMID:24859531	PMID:24965446	PMID:24999758	PMID:25013172	PMID:25036637	PMID:25053839	PMID:25184677	PMID:25211080	PMID:25220460	PMID:25225333	PMID:25665578
PMID:25693804	PMID:25775514	PMID:25796446	PMID:25900982	PMID:25921289	PMID:26000482	PMID:26138914	PMID:26186194	PMID:26253027	PMID:26255671	PMID:26344197	PMID:26472337
PMID:26492277	PMID:26496610	PMID:26618866	PMID:26638075	PMID:26641092	PMID:26656492	PMID:26673895	PMID:26687479	PMID:26759305	PMID:26777405	PMID:26831064	PMID:26841701
PMID:27025967	PMID:27511142	PMID:27565346	PMID:27573788	PMID:27591049	PMID:27609421	PMID:27684187	PMID:27702662	PMID:27773672	PMID:27974568	PMID:28077445	PMID:28118078
PMID:28128343	PMID:28302793	PMID:28431233	PMID:28514442	PMID:28515276	PMID:28541562	PMID:28561026	PMID:28669802	PMID:28827400	PMID:28942451	PMID:29117863	PMID:29158530
PMID:29229926	PMID:29298432	PMID:29331416	PMID:29348139	PMID:29378013	PMID:29382845	PMID:29395067	PMID:29467282	PMID:29507755	PMID:29511261	PMID:29568061	PMID:29802200
PMID:29911972	PMID:29955894	PMID:29991511	PMID:30110629	PMID:30166453	PMID:30209976	PMID:30218034	PMID:30258100	PMID:30277474	PMID:30320910	PMID:30344098	PMID:30442762
PMID:30463901	PMID:30471916	PMID:30575818	PMID:30619736	PMID:30628676	PMID:30655309	PMID:30658672	PMID:30686591	PMID:30689859	PMID:30833792	PMID:30884312	PMID:30948266
PMID:31006538	PMID:31048545	PMID:31059266	PMID:31067453	PMID:31073040	PMID:31091453	PMID:31234619	PMID:31239290	PMID:31264769	PMID:31361897	PMID:31363146	PMID:31365120
PMID:31427569	PMID:31511540	PMID:31536960	PMID:31553912	PMID:31586073	PMID:31617661	PMID:31620119	PMID:31640799	PMID:31678930	PMID:31685992	PMID:31696483	PMID:31730000
PMID:31732746	PMID:31799670	PMID:31839598	PMID:31871319	PMID:31919993	PMID:31980649	PMID:31995728	PMID:32124941	PMID:32235678	PMID:32353859	PMID:32382008	PMID:32416067
PMID:32457219	PMID:32460013	PMID:32561765	PMID:32571872	PMID:32620797	PMID:32635561	PMID:32687490	PMID:32694731	PMID:32707033	PMID:32780723	PMID:32786267	PMID:32788342
PMID:32802196	PMID:32807901	PMID:32877691	PMID:32905556	PMID:33006314	PMID:33022573	PMID:33029523	PMID:33060197	PMID:33087562	PMID:33239621	PMID:33306668	PMID:33404013
PMID:33644029	PMID:33658012	PMID:33711283	PMID:33731348	PMID:33742100	PMID:33789100	PMID:33820915	PMID:33916271	PMID:33957083	PMID:33961781	PMID:34021129	PMID:34027651
PMID:34029587	PMID:34079125	PMID:34143182	PMID:34158508	PMID:34189442	PMID:34226595	PMID:34244482	PMID:34244565	PMID:34316702	PMID:34373451	PMID:34467244	PMID:34517762
PMID:34520393	PMID:34597346	PMID:34634811	PMID:34650049	PMID:34709727	PMID:34728620	PMID:34795231	PMID:34939866	PMID:35013218	PMID:35032548	PMID:35102251	PMID:35129766
PMID:35140242	PMID:35253629	PMID:35256949	PMID:35271311	PMID:35337019	PMID:35403729	PMID:35439318	PMID:35442152	PMID:35446349	PMID:35509820	PMID:35659652	PMID:35676659
PMID:35819319	PMID:35831314	PMID:35850772	PMID:35906200	PMID:35915203	PMID:35944360	PMID:35973513	PMID:35986402	PMID:36057605	PMID:36114006	PMID:36199071	PMID:36215168
PMID:36226539	PMID:36232890	PMID:36244648	PMID:36261009	PMID:36421841	PMID:36456182	PMID:36517590	PMID:36526897	PMID:36572190	PMID:36574265	PMID:36766761	PMID:37071682
PMID:37120454	PMID:37120495	PMID:37167719	PMID:37211047	PMID:37222704	PMID:37314180	PMID:37314216	PMID:37317656	PMID:37689310	PMID:37723588	PMID:37794589	PMID:37803021
PMID:37820061	PMID:37827155	PMID:37866880	PMID:38013127	PMID:38113892	PMID:38167913	PMID:38223760	PMID:38244688	PMID:38280479	PMID:38412299	PMID:38625794	PMID:38697112
PMID:38709891	PMID:38986614	PMID:39098523	PMID:39147351	PMID:39231216	PMID:39331656	PMID:39358380	PMID:39501047	PMID:39506849

UPF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	18,831,959 - 18,868,230 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,831,959 - 18,868,230 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	18,942,768 - 18,979,039 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,803,744 - 18,840,039 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,803,787 - 18,840,038	NCBI
Celera	19	18,847,541 - 18,883,840 (+)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,507,089 - 18,543,390 (+)	NCBI		HuRef
CHM1_1	19	18,942,555 - 18,978,848 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI		T2T-CHM13v2.0

Upf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	70,784,143 - 70,806,418 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	70,784,175 - 70,805,928 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	70,331,493 - 70,353,423 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	70,331,525 - 70,353,278 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	72,855,421 - 72,877,172 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	73,260,514 - 73,282,268 (-)	NCBI		MGSCv36	mm8
Celera	8	72,887,999 - 72,909,735 (-)	NCBI		Celera
Cytogenetic Map	8	B3.3	NCBI
cM Map	8	34.15	NCBI

Upf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	19,110,531 - 19,131,327 (+)	NCBI		GRCr8
mRatBN7.2	16	19,076,594 - 19,097,365 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	19,076,322 - 19,096,568 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	16	20,824,888 - 20,845,632 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	20,824,864 - 20,845,243 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	20,677,403 - 20,698,177 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	16	19,266,888 - 19,287,629 (+)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Upf1
(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_004955524	2,798,336 - 2,913,176 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955524	2,798,336 - 2,814,063 (-)	NCBI	ChiLan1.0	ChiLan1.0

UPF1
(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	20	23,693,196 - 23,729,529 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	22,699,421 - 22,735,743 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	18,269,878 - 18,306,199 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	19,293,020 - 19,315,295 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	19,292,725 - 19,313,224 (+)	Ensembl	panpan1.1		panPan2

UPF1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	44,234,411 - 44,271,129 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	44,236,264 - 44,270,916 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	44,149,222 - 44,185,842 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	44,720,750 - 44,757,369 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	44,720,766 - 44,757,522 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	43,958,032 - 43,994,646 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	44,368,223 - 44,404,830 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	44,643,707 - 44,680,326 (-)	NCBI		UU_Cfam_GSD_1.0

Upf1
(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_024405118	202,920,305 - 202,956,549 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936596	2,468,116 - 2,505,688 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936596	2,469,444 - 2,505,688 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UPF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	58,975,023 - 59,013,495 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	58,975,013 - 59,013,546 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	58,558,438 - 58,561,969 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UPF1
(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	6	17,291,189 - 17,328,768 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	17,291,175 - 17,330,193 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	1,996,616 - 2,034,083 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Upf1
(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_004624908	1,910,315 - 1,933,655 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624908	1,909,995 - 1,935,370 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in UPF1
98 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	copy number gain	See cases [RCV000050635]	Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11	pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	copy number gain	See cases [RCV000052912]	Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	copy number gain	See cases [RCV000136696]	Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12	pathogenic\|likely pathogenic
NM_002911.4(UPF1):c.1340G>A (p.Gly447Asp)	single nucleotide variant	not provided [RCV003321108]	Chr19:18854953 [GRCh38] Chr19:18965762 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3	copy number gain	not provided [RCV000752593]	Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11	pathogenic
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3	copy number gain	See cases [RCV000449006]	Chr19:18136482..19087534 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2863C>T (p.Pro955Ser)	single nucleotide variant	not specified [RCV004312806]	Chr19:18865294 [GRCh38] Chr19:18976103 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)	single nucleotide variant	Autistic behavior [RCV003311601]	Chr19:18857431 [GRCh38] Chr19:18968240 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_002911.4(UPF1):c.2457+89G>A	single nucleotide variant	not provided [RCV001648412]	Chr19:18861071 [GRCh38] Chr19:18971880 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.1635C>T (p.Cys545=)	single nucleotide variant	not provided [RCV000973596]	Chr19:18856015 [GRCh38] Chr19:18966824 [GRCh37] Chr19:19p13.11	benign\|likely benign
NM_002911.4(UPF1):c.1869G>A (p.Pro623=)	single nucleotide variant	not provided [RCV000970503]	Chr19:18856921 [GRCh38] Chr19:18967730 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.3134C>T (p.Ala1045Val)	single nucleotide variant	not provided [RCV000966480]	Chr19:18865675 [GRCh38] Chr19:18976484 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.1251G>A (p.Ser417=)	single nucleotide variant	not provided [RCV000970904]	Chr19:18854695 [GRCh38] Chr19:18965504 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.630-10C>T	single nucleotide variant	not provided [RCV000883304]	Chr19:18850678 [GRCh38] Chr19:18961487 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2713A>C (p.Asn905His)	single nucleotide variant	not provided [RCV003314793]	Chr19:18863550 [GRCh38] Chr19:18974359 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)	single nucleotide variant	Intellectual disability [RCV001195713]	Chr19:18862041 [GRCh38] Chr19:18972850 [GRCh37] Chr19:19p13.11	likely pathogenic
NM_002911.4(UPF1):c.810+2dup	duplication	not provided [RCV004776618]	Chr19:18850869..18850870 [GRCh38] Chr19:18961678..18961679 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2867C>T (p.Ser956Phe)	single nucleotide variant	not provided [RCV004787405]	Chr19:18865298 [GRCh38] Chr19:18976107 [GRCh37] Chr19:19p13.11	uncertain significance
NC_000019.10:g.18868515A>C	single nucleotide variant	not provided [RCV001597629]	Chr19:18868515 [GRCh38] Chr19:18979324 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.1266-32T>G	single nucleotide variant	not provided [RCV001676177]	Chr19:18854847 [GRCh38] Chr19:18965656 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.-131C>G	single nucleotide variant	not provided [RCV001614213]	Chr19:18832079 [GRCh38] Chr19:18942888 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.232-90G>A	single nucleotide variant	not provided [RCV001674688]	Chr19:18845890 [GRCh38] Chr19:18956699 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.*3+13G>A	single nucleotide variant	not provided [RCV001710945]	Chr19:18866179 [GRCh38] Chr19:18976988 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.3237+8C>T	single nucleotide variant	not provided [RCV000926757]	Chr19:18865786 [GRCh38] Chr19:18976595 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.2247C>T (p.Tyr749=)	single nucleotide variant	not provided [RCV000957741]	Chr19:18860385 [GRCh38] Chr19:18971194 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2300+75T>C	single nucleotide variant	not provided [RCV001637478]	Chr19:18860513 [GRCh38] Chr19:18971322 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.1860C>T (p.Ala620=)	single nucleotide variant	not provided [RCV001644022]	Chr19:18856912 [GRCh38] Chr19:18967721 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.64G>C (p.Glu22Gln)	single nucleotide variant	not provided [RCV003328023]	Chr19:18832273 [GRCh38] Chr19:18943082 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2428A>C (p.Ser810Arg)	single nucleotide variant	not provided [RCV003231864]	Chr19:18860953 [GRCh38] Chr19:18971762 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1426G>T (p.Val476Phe)	single nucleotide variant	not specified [RCV004315308]	Chr19:18855124 [GRCh38] Chr19:18965933 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2458-140G>A	single nucleotide variant	not provided [RCV001721670]	Chr19:18861870 [GRCh38] Chr19:18972679 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2457+217A>G	single nucleotide variant	not provided [RCV001688332]	Chr19:18861199 [GRCh38] Chr19:18972008 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2458-85G>T	single nucleotide variant	not provided [RCV001688365]	Chr19:18861925 [GRCh38] Chr19:18972734 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.138G>A (p.Thr46=)	single nucleotide variant	not provided [RCV001678547]	Chr19:18832347 [GRCh38] Chr19:18943156 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2601-188G>C	single nucleotide variant	not provided [RCV001673705]	Chr19:18863250 [GRCh38] Chr19:18974059 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2458-228T>C	single nucleotide variant	not provided [RCV001693958]	Chr19:18861782 [GRCh38] Chr19:18972591 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.1544+108G>A	single nucleotide variant	not provided [RCV001648411]	Chr19:18855350 [GRCh38] Chr19:18966159 [GRCh37] Chr19:19p13.11	benign
NC_000019.10:g.18831773A>G	single nucleotide variant	not provided [RCV001666334]	Chr19:18831773 [GRCh38] Chr19:18942582 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.*3+10C>G	single nucleotide variant	not provided [RCV001648592]	Chr19:18866176 [GRCh38] Chr19:18976985 [GRCh37] Chr19:19p13.11	benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	copy number gain	not provided [RCV001259370]	Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12	pathogenic
NM_002911.4(UPF1):c.2601-47A>G	single nucleotide variant	not provided [RCV001687248]	Chr19:18863391 [GRCh38] Chr19:18974200 [GRCh37] Chr19:19p13.11	benign
NM_002911.4(UPF1):c.2060G>A (p.Arg687His)	single nucleotide variant	not provided [RCV004798307]	Chr19:18857411 [GRCh38] Chr19:18968220 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2138C>T (p.Ser713Phe)	single nucleotide variant	Developmental disorder [RCV001843768]	Chr19:18857489 [GRCh38] Chr19:18968298 [GRCh37] Chr19:19p13.11	likely benign
NC_000019.9:g.(?_18893725)_(19312528_?)del	deletion	Progressive myoclonic epilepsy type 8 [RCV001955725]	Chr19:18893725..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NC_000019.9:g.(?_17927663)_(19312528_?)dup	duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292]	Chr19:17927663..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1435G>T (p.Val479Leu)	single nucleotide variant	not provided [RCV003234436]	Chr19:18855133 [GRCh38] Chr19:18965942 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2279C>T (p.Ser760Leu)	single nucleotide variant	not provided [RCV002276067]	Chr19:18860417 [GRCh38] Chr19:18971226 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2381C>T (p.Thr794Met)	single nucleotide variant	not provided [RCV002469538]	Chr19:18860906 [GRCh38] Chr19:18971715 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1906G>A (p.Asp636Asn)	single nucleotide variant	not provided [RCV003156660]	Chr19:18856958 [GRCh38] Chr19:18967767 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.554A>G (p.Asn185Ser)	single nucleotide variant	not provided [RCV002308863]	Chr19:18850167 [GRCh38] Chr19:18960976 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.316G>C (p.Glu106Gln)	single nucleotide variant	not provided [RCV002300921]	Chr19:18846064 [GRCh38] Chr19:18956873 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1801A>G (p.Thr601Ala)	single nucleotide variant	not specified [RCV004144026]	Chr19:18856277 [GRCh38] Chr19:18967086 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2836G>A (p.Val946Ile)	single nucleotide variant	not specified [RCV004088831]	Chr19:18864230 [GRCh38] Chr19:18975039 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.154G>A (p.Gly52Ser)	single nucleotide variant	not specified [RCV004143948]	Chr19:18832363 [GRCh38] Chr19:18943172 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1903A>G (p.Ile635Val)	single nucleotide variant	not specified [RCV004128841]	Chr19:18856955 [GRCh38] Chr19:18967764 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3005A>G (p.Asn1002Ser)	single nucleotide variant	not specified [RCV004109160]	Chr19:18865436 [GRCh38] Chr19:18976245 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.334A>G (p.Thr112Ala)	single nucleotide variant	not specified [RCV004158004]	Chr19:18846082 [GRCh38] Chr19:18956891 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2791A>G (p.Thr931Ala)	single nucleotide variant	not provided [RCV003037031]	Chr19:18864185 [GRCh38] Chr19:18974994 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.140C>T (p.Pro47Leu)	single nucleotide variant	not specified [RCV004160709]	Chr19:18832349 [GRCh38] Chr19:18943158 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3052G>A (p.Gly1018Arg)	single nucleotide variant	not specified [RCV004120182]	Chr19:18865593 [GRCh38] Chr19:18976402 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1195G>A (p.Val399Met)	single nucleotide variant	not specified [RCV004110311]	Chr19:18854639 [GRCh38] Chr19:18965448 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1789G>A (p.Ala597Thr)	single nucleotide variant	not specified [RCV004105556]	Chr19:18856265 [GRCh38] Chr19:18967074 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2896A>C (p.Ile966Leu)	single nucleotide variant	not specified [RCV004218799]	Chr19:18865327 [GRCh38] Chr19:18976136 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2312C>T (p.Ala771Val)	single nucleotide variant	not specified [RCV004275954]	Chr19:18860837 [GRCh38] Chr19:18971646 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.388G>A (p.Asp130Asn)	single nucleotide variant	not specified [RCV004685255]	Chr19:18847760 [GRCh38] Chr19:18958569 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3352T>C (p.Tyr1118His)	single nucleotide variant	not provided [RCV003329078]	Chr19:18866158 [GRCh38] Chr19:18976967 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.641C>G (p.Ala214Gly)	single nucleotide variant	not provided [RCV003332727]	Chr19:18850699 [GRCh38] Chr19:18961508 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.487G>A (p.Ala163Thr)	single nucleotide variant	not provided [RCV003332750]	Chr19:18850100 [GRCh38] Chr19:18960909 [GRCh37] Chr19:19p13.11	uncertain significance
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	single nucleotide variant	Congenital heart defects, multiple types, 6 [RCV000007139]\|GDF1-RELATED DISORDERS [RCV003335019]\|GDF1-related disorder [RCV003407289]\|Right atrial isomerism [RCV000055615]\|Right atrial isomerism [RCV005025024]\|Transposition of the great arteries [RCV004576881]\|not provided [RCV000417815]	Chr19:18869035 [GRCh38] Chr19:18979844 [GRCh37] Chr19:19p13.11	pathogenic\|likely pathogenic\|likely benign
NM_002911.4(UPF1):c.3177C>T (p.Ile1059=)	single nucleotide variant	not provided [RCV003423463]	Chr19:18865718 [GRCh38] Chr19:18976527 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.258C>T (p.Asn86=)	single nucleotide variant	not provided [RCV003423460]	Chr19:18846006 [GRCh38] Chr19:18956815 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.1803C>T (p.Thr601=)	single nucleotide variant	not provided [RCV003423462]	Chr19:18856279 [GRCh38] Chr19:18967088 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.1194C>T (p.Ser398=)	single nucleotide variant	not provided [RCV003423461]	Chr19:18854638 [GRCh38] Chr19:18965447 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.240C>T (p.Pro80=)	single nucleotide variant	not provided [RCV003429167]	Chr19:18845988 [GRCh38] Chr19:18956797 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.3135G>A (p.Ala1045=)	single nucleotide variant	not provided [RCV003406909]	Chr19:18865676 [GRCh38] Chr19:18976485 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.681G>A (p.Ser227=)	single nucleotide variant	not provided [RCV003415156]	Chr19:18850739 [GRCh38] Chr19:18961548 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.1503G>A (p.Thr501=)	single nucleotide variant	not provided [RCV003415157]	Chr19:18855201 [GRCh38] Chr19:18966010 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.1825-6C>T	single nucleotide variant	not provided [RCV003415158]	Chr19:18856871 [GRCh38] Chr19:18967680 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.370dup (p.Ser124fs)	duplication	not provided [RCV003442739]	Chr19:18846117..18846118 [GRCh38] Chr19:18956926..18956927 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1948G>A (p.Val650Met)	single nucleotide variant	not provided [RCV004801826]	Chr19:18857000 [GRCh38] Chr19:18967809 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	copy number loss	not specified [RCV003986109]	Chr19:18926463..21100330 [GRCh37] Chr19:19p13.11-12	uncertain significance
NM_002911.4(UPF1):c.3351G>A (p.Gln1117=)	single nucleotide variant	UPF1-related disorder [RCV003951919]	Chr19:18866157 [GRCh38] Chr19:18976966 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.1094G>A (p.Arg365Gln)	single nucleotide variant	not specified [RCV004482139]	Chr19:18853288 [GRCh38] Chr19:18964097 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1947C>T (p.Pro649=)	single nucleotide variant	not specified [RCV004482141]	Chr19:18856999 [GRCh38] Chr19:18967808 [GRCh37] Chr19:19p13.11	likely benign
NM_002911.4(UPF1):c.2122C>G (p.Leu708Val)	single nucleotide variant	not specified [RCV004482142]	Chr19:18857473 [GRCh38] Chr19:18968282 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3010C>T (p.Pro1004Ser)	single nucleotide variant	not specified [RCV004482143]	Chr19:18865441 [GRCh38] Chr19:18976250 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.773C>T (p.Thr258Met)	single nucleotide variant	not specified [RCV004482144]	Chr19:18850831 [GRCh38] Chr19:18961640 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1157-3C>A	single nucleotide variant	not provided [RCV004592256]	Chr19:18854598 [GRCh38] Chr19:18965407 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1382A>G (p.Lys461Arg)	single nucleotide variant	not provided [RCV004592379]	Chr19:18854995 [GRCh38] Chr19:18965804 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1520A>G (p.Tyr507Cys)	single nucleotide variant	not specified [RCV004687992]	Chr19:18855218 [GRCh38] Chr19:18966027 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2650C>T (p.Leu884Phe)	single nucleotide variant	not provided [RCV004801632]	Chr19:18863487 [GRCh38] Chr19:18974296 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1366A>G (p.Lys456Glu)	single nucleotide variant	not provided [RCV004775885]	Chr19:18854979 [GRCh38] Chr19:18965788 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1822A>C (p.Met608Leu)	single nucleotide variant	not provided [RCV004769027]	Chr19:18856298 [GRCh38] Chr19:18967107 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2773C>A (p.Pro925Thr)	single nucleotide variant	not provided [RCV004772514]	Chr19:18863610 [GRCh38] Chr19:18974419 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1325A>G (p.Tyr442Cys)	single nucleotide variant	not provided [RCV004772555]	Chr19:18854938 [GRCh38] Chr19:18965747 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1595A>G (p.Glu532Gly)	single nucleotide variant	not provided [RCV004778951]	Chr19:18855975 [GRCh38] Chr19:18966784 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.599A>G (p.Lys200Arg)	single nucleotide variant	not provided [RCV004767878]	Chr19:18850212 [GRCh38] Chr19:18961021 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1565C>T (p.Pro522Leu)	single nucleotide variant	not provided [RCV004794939]	Chr19:18855945 [GRCh38] Chr19:18966754 [GRCh37] Chr19:19p13.11	pathogenic
NM_002911.4(UPF1):c.2851A>T (p.Ser951Cys)	single nucleotide variant	not provided [RCV004759882]		uncertain significance
NM_002911.4(UPF1):c.2191G>A (p.Val731Met)	single nucleotide variant	not provided [RCV004760944]		uncertain significance
NM_002911.4(UPF1):c.241G>A (p.Glu81Lys)	single nucleotide variant	not specified [RCV004887918]	Chr19:18845989 [GRCh38] Chr19:18956798 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.547T>C (p.Cys183Arg)	single nucleotide variant	not provided [RCV004820500]	Chr19:18850160 [GRCh38] Chr19:18960969 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.91T>A (p.Ser31Thr)	single nucleotide variant	not provided [RCV004820721]	Chr19:18832300 [GRCh38] Chr19:18943109 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1679C>T (p.Ala560Val)	single nucleotide variant	not provided [RCV005004602]	Chr19:18856059 [GRCh38] Chr19:18966868 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2504A>G (p.Asp835Gly)	single nucleotide variant	not provided [RCV005065285]	Chr19:18862056 [GRCh38] Chr19:18972865 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.340T>C (p.Tyr114His)	single nucleotide variant	not provided [RCV005227305]	Chr19:18846088 [GRCh38] Chr19:18956897 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3212G>C (p.Gly1071Ala)	single nucleotide variant	not specified [RCV004876463]	Chr19:18865753 [GRCh38] Chr19:18976562 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.403G>A (p.Val135Ile)	single nucleotide variant	not specified [RCV004876464]	Chr19:18847775 [GRCh38] Chr19:18958584 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.2768T>A (p.Ile923Asn)	single nucleotide variant	not specified [RCV004876462]	Chr19:18863605 [GRCh38] Chr19:18974414 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1208T>C (p.Val403Ala)	single nucleotide variant	not specified [RCV004876469]	Chr19:18854652 [GRCh38] Chr19:18965461 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1984G>A (p.Asp662Asn)	single nucleotide variant	Hypertelorism [RCV005250347]	Chr19:18857335 [GRCh38] Chr19:18968144 [GRCh37] Chr19:19p13.11	pathogenic
NM_002911.4(UPF1):c.949_951del (p.Asp317del)	deletion	Hypertelorism [RCV005250348]	Chr19:18852271..18852273 [GRCh38] Chr19:18963080..18963082 [GRCh37] Chr19:19p13.11	pathogenic
NM_002911.4(UPF1):c.2702G>A (p.Gly901Glu)	single nucleotide variant	not provided [RCV005250915]	Chr19:18863539 [GRCh38] Chr19:18974348 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1723C>T (p.Gln575Ter)	single nucleotide variant	not provided [RCV005234079]	Chr19:18856199 [GRCh38] Chr19:18967008 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.3200T>G (p.Met1067Arg)	single nucleotide variant	not provided [RCV005205833]	Chr19:18865741 [GRCh38] Chr19:18976550 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.191G>T (p.Gly64Val)	single nucleotide variant	not specified [RCV004876468]	Chr19:18832400 [GRCh38] Chr19:18943209 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.1844G>A (p.Cys615Tyr)	single nucleotide variant	not provided [RCV003332649]	Chr19:18856896 [GRCh38] Chr19:18967705 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.158G>C (p.Gly53Ala)	single nucleotide variant	not specified [RCV004876465]	Chr19:18832367 [GRCh38] Chr19:18943176 [GRCh37] Chr19:19p13.11	uncertain significance
NM_002911.4(UPF1):c.263C>T (p.Ala88Val)	single nucleotide variant	not specified [RCV004876466]	Chr19:18846011 [GRCh38] Chr19:18956820 [GRCh37] Chr19:19p13.11	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	4938
Count of miRNA genes:	1048
Interacting mature miRNAs:	1294
Transcripts:	ENST00000262803, ENST00000594243, ENST00000594504, ENST00000596842, ENST00000598209, ENST00000598471, ENST00000599848, ENST00000600012, ENST00000600310, ENST00000600689, ENST00000600868, ENST00000601689, ENST00000601981
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
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human
597266258	GWAS1362332_H	schizophrenia QTL GWAS1362332 (human)		0.000003	schizophrenia		19	18833363	18833364	Human

RH36847

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,978,758 - 18,978,927	UniSTS	GRCh37
Build 36	19	18,839,758 - 18,839,927	RGD	NCBI36
Celera	19	18,883,559 - 18,883,728	RGD
Cytogenetic Map	19	p13.2-p13.11	UniSTS
HuRef	19	18,543,109 - 18,543,278	UniSTS

D19S842E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,978,911 - 18,978,976	UniSTS	GRCh37
Build 36	19	18,839,911 - 18,839,976	RGD	NCBI36
Celera	19	18,883,712 - 18,883,777	RGD
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	19	p13.2-p13.11	UniSTS
HuRef	19	18,543,262 - 18,543,327	UniSTS

RH25427

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,978,766 - 18,978,973	UniSTS	GRCh37
Build 36	19	18,839,766 - 18,839,973	RGD	NCBI36
Celera	19	18,883,567 - 18,883,774	RGD
Cytogenetic Map	19	p13.2-p13.11	UniSTS
HuRef	19	18,543,117 - 18,543,324	UniSTS
GeneMap99-GB4 RH Map	19	105.07	UniSTS

A006H36

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	18,978,912 - 18,979,017	UniSTS	GRCh37
Build 36	19	18,839,912 - 18,840,017	RGD	NCBI36
Celera	19	18,883,713 - 18,883,818	RGD
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	19	p13.2-p13.11	UniSTS
HuRef	19	18,543,263 - 18,543,368	UniSTS
GeneMap99-GB4 RH Map	19	103.3	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	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001297549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC003972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC004517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF074016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE243084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM969672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ950083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX331580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
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Ensembl Acc Id:

ENST00000262803 ⟹ ENSP00000262803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,831,959 - 18,868,230 (+)	Ensembl

Ensembl Acc Id:

ENST00000594243

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,854,913 - 18,855,680 (+)	Ensembl

Ensembl Acc Id:

ENST00000594504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,847,442 - 18,865,383 (+)	Ensembl

Ensembl Acc Id:

ENST00000596842

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,859,383 - 18,868,229 (+)	Ensembl

Ensembl Acc Id:

ENST00000598209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,082 - 18,852,236 (+)	Ensembl

Ensembl Acc Id:

ENST00000598471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,813 - 18,852,194 (+)	Ensembl

Ensembl Acc Id:

ENST00000599848 ⟹ ENSP00000470142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,832,001 - 18,868,229 (+)	Ensembl

Ensembl Acc Id:

ENST00000600012

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,008 - 18,852,182 (+)	Ensembl

Ensembl Acc Id:

ENST00000600310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,166 - 18,852,254 (+)	Ensembl

Ensembl Acc Id:

ENST00000600689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,862,933 - 18,868,229 (+)	Ensembl

Ensembl Acc Id:

ENST00000600868

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,008 - 18,852,296 (+)	Ensembl

Ensembl Acc Id:

ENST00000601689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,852,998 - 18,855,157 (+)	Ensembl

Ensembl Acc Id:

ENST00000601981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,833,130 - 18,868,230 (+)	Ensembl

Ensembl Acc Id:

ENST00000704676 ⟹ ENSP00000515988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,831,959 - 18,868,230 (+)	Ensembl

Ensembl Acc Id:

ENST00000704677 ⟹ ENSP00000515989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,831,959 - 18,868,230 (+)	Ensembl

Ensembl Acc Id:

ENST00000704678 ⟹ ENSP00000515990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,831,976 - 18,856,088 (+)	Ensembl

Ensembl Acc Id:

ENST00000704679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,849,166 - 18,868,204 (+)	Ensembl

RefSeq Acc Id:

NM_001297549 ⟹ NP_001284478

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,831,959 - 18,868,230 (+)	NCBI
CHM1_1	19	18,942,555 - 18,978,850 (+)	NCBI
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI

Sequence:

show sequence

AGTTCCTGCTCTAGGCTGCGAGCGGCTGGCGGCTTCGAGGGGAGCTGAGGCGCGGAGGGGCTCGGCGGCAGCGGCGGCGGCTCGGCACTGTTACCTCTCGGTCCGGCTGGCGCCGGGGCGCGCGGTTT
GGTCCTTTCCGGGCGCGCGGGGGCGACAGCGGCAGCGACCCGAGGCCTGCGGCCTAGGCCTCAGCGCGGCGGCGGGCTCGAGTGCAGCGCGGAACCGGCCCGAGGGCCCTACCCGGAGGCACCATGAG
CGTGGAGGCGTACGGGCCCAGCTCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCTCCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGC
AGACGCCCCCCGGCGGCCCCGGCGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAGCTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGG
GCTGTGGACGACAGTGTAGCCAAGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAAGGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGA
TCCTGCCTGCGTGGTTTACTGTAATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATCACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGG
ACGGGCCCCTGGGGGAGACAGTCCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCTGACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGC
CAGAGCAGCCTCAAGGACATCAACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAAGATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCAC
GGCACAGCAGATCAACAAGCTGGAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACGAGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACC
AGTACCAGAACATATTCGGGCCCCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATCACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCC
TACTTCACTTTGCCCAAGACTGACTCTGGTAATGAGGATTTAGTCATAATTTGGTTAAGAGACATGCGGCTCATGCAGGGGGATGAGATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAA
AGGGATCGGCCACGTCATCAAGGTCCCTGATAATTATGGCGATGAGATCGCCATTGAGCTGCGGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGA
CCTCCTTTGACAGGATGCAGAGCGCATTGAAAACGTTTGCCGTGGATGAGACCTCGGTGTCTGGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCC
AAGCGCTTCACGGCGCAGGGCCTCCCCGACCTCAACCACTCCCAGGTTTATGCCGTGAAGACTGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGC
CACCATCGTCTACCACCTGGCCCGGCAAGGCAACGGGCCGGTGCTGGTGTGTGCTCCGAGCAACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCG
CCAAGAGCCGTGAGGCCATCGACTCCCCGGTGTCTTTTCTGGCCCTGCACAACCAGATCAGGAACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCG
TCTGCCGACGAGAAGCGGTACCGGGCCTTGAAGCGCACCGCAGAGAGAGAGCTGCTGATGAACGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCG
CTCCATTTTAATCGACGAAAGCACCCAGGCCACCGAGCCGGAGTGCATGGTTCCCGTGGTCCTCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGA
AGGCGGCCAAGGCCGGGCTGTCACAGTCGCTCTTCGAGCGCCTGGTGGTGCTGGGCATCCGGCCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTC
TACGAGGGCTCCCTCCAGAATGGTGTCACTGCAGCGGATCGTGTGAAGAAGGGATTTGACTTCCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAG
CTCGGGCACCTCCTACCTGAACAGGACCGAGGCTGCGAACGTGGAGAAGATCACCACGAAGTTGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCT
ACCTGGTGCAGTACATGCAGTTCAGCGGCTCCCTGCACACCAAGCTCTACCAGGAGGTGGAGATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCC
AACGAGCACCAAGGCATTGGCTTTTTAAATGACCCCAGGCGTCTGAACGTGGCCCTGACCAGAGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCA
CCTGCTGAACTACTATAAGGAGCAGAAGGTGCTGGTGGAGGGGCCGCTCAACAACCTGCGTGAGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCA
TGACCACAGCCATGTATGATGCCCGGGAGGCCATCATCCCAGGCTCCGTCTATGATCGGAGCAGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGC
CCTAGCCACGTGGCTGCCATGAACATTCCCATCCCCTTCAACCTGGTCATGCCACCCATGCCACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGAC
TGGTCGTGGGGGACGCCAGAAGAACCGCTTTGGGCTTCCTGGACCCAGCCAGACTAACCTCCCCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCT
ACATCTCCATGAGCCAGCCTTCCCAGATGAGCCAGCCCGGCCTCTCCCAGCCGGAGCTGTCCCAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACG
TACCAGGGAGAGCGGGCTTACCAGCATGGCGGGGTGACGGGGCTGTCCCAGTATTAAAAGGTGGCGGCGGAAGAGCTAAGCAACGTGGCTTAGTCCATCAGCATCTTATTCTGGGTAATAAAAAATAA
AAATAAACGGATACCTGTTTTCCACTGCTAAAACTGAAGCACCACTGTGTGAGCAACAGGAAGGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGC
AGAGGGAGCGGAGGAGGGGCCGGCCCGCGGGAGCCGCGGCCACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTT
CTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCG
CGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTA
CTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGC
CGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTT
CCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGC
TTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAAT
TGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGG
TCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCC
AGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCA
TGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAG
CAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCA

hide sequence

RefSeq Acc Id:

NM_002911 ⟹ NP_002902

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,831,959 - 18,868,230 (+)	NCBI
GRCh37	19	18,942,744 - 18,979,039 (+)	ENTREZGENE
GRCh37	19	18,942,744 - 18,979,039 (+)	NCBI
Build 36	19	18,803,744 - 18,840,039 (+)	NCBI Archive
HuRef	19	18,507,089 - 18,543,390 (+)	ENTREZGENE
CHM1_1	19	18,942,555 - 18,978,848 (+)	NCBI
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI

Sequence:

show sequence

AGTTCCTGCTCTAGGCTGCGAGCGGCTGGCGGCTTCGAGGGGAGCTGAGGCGCGGAGGGGCTCGGCGGCAGCGGCGGCGGCTCGGCACTGTTACCTCTCGGTCCGGCTGGCGCCGGGGCGCGCGGTTT
GGTCCTTTCCGGGCGCGCGGGGGCGACAGCGGCAGCGACCCGAGGCCTGCGGCCTAGGCCTCAGCGCGGCGGCGGGCTCGAGTGCAGCGCGGAACCGGCCCGAGGGCCCTACCCGGAGGCACCATGAG
CGTGGAGGCGTACGGGCCCAGCTCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCTCCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGC
AGACGCCCCCCGGCGGCCCCGGCGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAGCTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGG
GCTGTGGACGACAGTGTAGCCAAGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAAGGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGA
TCCTGCCTGCGTGGTTTACTGTAATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATCACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGG
ACGGGCCCCTGGGGGAGACAGTCCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCTGACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGC
CAGAGCAGCCTCAAGGACATCAACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAAGATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCAC
GGCACAGCAGATCAACAAGCTGGAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACGAGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACC
AGTACCAGAACATATTCGGGCCCCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATCACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCC
TACTTCACTTTGCCCAAGACTGACTCTGACATGCGGCTCATGCAGGGGGATGAGATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAAAGGGATCGGCCACGTCATCAAGGTCCCTGATAA
TTATGGCGATGAGATCGCCATTGAGCTGCGGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGACCTCCTTTGACAGGATGCAGAGCGCATTGAAAA
CGTTTGCCGTGGATGAGACCTCGGTGTCTGGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCCAAGCGCTTCACGGCGCAGGGCCTCCCCGACCTC
AACCACTCCCAGGTTTATGCCGTGAAGACTGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGCCACCATCGTCTACCACCTGGCCCGGCAAGGCAA
CGGGCCGGTGCTGGTGTGTGCTCCGAGCAACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCGCCAAGAGCCGTGAGGCCATCGACTCCCCGGTGT
CTTTTCTGGCCCTGCACAACCAGATCAGGAACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCGTCTGCCGACGAGAAGCGGTACCGGGCCTTGAAG
CGCACCGCAGAGAGAGAGCTGCTGATGAACGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCGCTCCATTTTAATCGACGAAAGCACCCAGGCCAC
CGAGCCGGAGTGCATGGTTCCCGTGGTCCTCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGAAGGCGGCCAAGGCCGGGCTGTCACAGTCGCTCT
TCGAGCGCCTGGTGGTGCTGGGCATCCGGCCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTCTACGAGGGCTCCCTCCAGAATGGTGTCACTGCA
GCGGATCGTGTGAAGAAGGGATTTGACTTCCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAGCTCGGGCACCTCCTACCTGAACAGGACCGAGGC
TGCGAACGTGGAGAAGATCACCACGAAGTTGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCTACCTGGTGCAGTACATGCAGTTCAGCGGCTCCC
TGCACACCAAGCTCTACCAGGAGGTGGAGATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCCAACGAGCACCAAGGCATTGGCTTTTTAAATGAC
CCCAGGCGTCTGAACGTGGCCCTGACCAGAGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCACCTGCTGAACTACTATAAGGAGCAGAAGGTGCT
GGTGGAGGGGCCGCTCAACAACCTGCGTGAGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCATGACCACAGCCATGTATGATGCCCGGGAGGCCA
TCATCCCAGGCTCCGTCTATGATCGGAGCAGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGCCCTAGCCACGTGGCTGCCATGAACATTCCCATC
CCCTTCAACCTGGTCATGCCACCCATGCCACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGACTGGTCGTGGGGGACGCCAGAAGAACCGCTTTGG
GCTTCCTGGACCCAGCCAGACTAACCTCCCCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCTACATCTCCATGAGCCAGCCTTCCCAGATGAGCC
AGCCCGGCCTCTCCCAGCCGGAGCTGTCCCAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACGTACCAGGGAGAGCGGGCTTACCAGCATGGCGGG
GTGACGGGGCTGTCCCAGTATTAAAAGGTGGCGGCGGAAGAGCTAAGCAACGTGGCTTAGTCCATCAGCATCTTATTCTGGGTAATAAAAAATAAAAATAAACGGATACCTGTTTTCCACTGCTAAAA
CTGAAGCACCACTGTGTGAGCAACAGGAAGGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGCAGAGGGAGCGGAGGAGGGGCCGGCCCGCGGGAG
CCGCGGCCACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGG
ACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTC
GCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAA
TCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAG
TGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGG
TGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGA
AGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATG
GGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAAC
GCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGAC
GCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGG
CGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAG
GCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCA

hide sequence

RefSeq Acc Id:

XM_017027105 ⟹ XP_016882594

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,831,959 - 18,868,230 (+)	NCBI

Sequence:

show sequence

ATGGAGTCTCACTCTGTCTCCCAGGCTGGTCTCGAACTCCTGAGTTCAAGCAGTTCTCCCGCCTCAGCCTCTGAGTGTTGGGATTACAGGTGTGACCACCGCGCCGAGCCCCACTCCCTTTTTAAACC
AATGCACAGGGAGCATCTACTATGTGCGAGGCACCCTCCATTTTACAGATGGGGAAACTGAGTTCCAAGCAGCTTTTGCCAGGAGTGGGAGCGCACCGTCCCTGCCCAGTCTCTCCAGTTGGGCGTTC
CGAGACCACCTATGTAGGGTATTCGGCTAGCGCTCAATTAAACCGAAACACCGTCGCAGCGACCACAGGTGCAGACCACCAAGTCCACACCGCCAGCCGCCCGGGCGTCCCCAATTAGCAGTTGGGGC
GGGACCAAGTCCTCGAGCTGCCGCCGCAGCGGCGGTTGAAAGCCCCACCCCCTGCGCGTGCGCGGTGCGCGTCCCGTCTTCCTGCTGGGCACCAGGCGCCCGCGAAGAGCGCGCGCGCTTCCGCCGGC
GTCGGGCTCGCGCACGCGCACGGCGACGGCGGCGGTGGCGGCAGTTCCTGCTCTAGGCTGCGAGCGGCTGGCGGCTTCGAGGGGAGCTGAGGCGCGGAGGGGCTCGGCGGCAGCGGCGGCGGCTCGGC
ACTGTTACCTCTCGGTCCGGCTGGCGCCGGGGCGCGCGGTTTGGTCCTTTCCGGGCGCGCGGGGGCGACAGCGGCAGCGACCCGAGGCCTGCGGCCTAGGCCTCAGCGCGGCGGCGGGCTCGAGTGCA
GCGCGGAACCGGCCCGAGGGCCCTACCCGGAGGCACCATGAGCGTGGAGGCGTACGGGCCCAGCTCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCT
CCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGCAGACGCCCCCCGGCGGCCCCGGCGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAG
CTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGGGCTGTGGACGACAGTGTAGCCAAGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAA
GGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGATCCTGCCTGCGTGGTTTACTGTAATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATC
ACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGGACGGGCCCCTGGGGGAGACAGTCCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCT
GACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGCCAGAGCAGCCTCAAGGACATCAACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAA
GATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCACGGCACAGCAGATCAACAAGCTGGAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACG
AGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACCAGTACCAGAACATATTCGGGCCCCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATC
ACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCCTACTTCACTTTGCCCAAGACTGACTCTGGTAATGAGGATTTAGTCATAATTTGGTTAAGAGACATGCGGCTCATGCAGGGGGATGA
GATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAAAGGGATCGGCCACGTCATCAAGGTCCCTGATAATGCAAACTTAACTCAGCACACAGATTATGGCGATGAGATCGCCATTGAGCTGC
GGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGACCTCCTTTGACAGGATGCAGAGCGCATTGAAAACGTTTGCCGTGGATGAGACCTCGGTGTCT
GGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCCAAGCGCTTCACGGCGCAGGGCCTCCCCGACCTCAACCACTCCCAGGTTTATGCCGTGAAGAC
TGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGCCACCATCGTCTACCACCTGGCCCGGCAAGGCAACGGGCCGGTGCTGGTGTGTGCTCCGAGCA
ACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCGCCAAGAGCCGTGAGGCCATCGACTCCCCGGTGTCTTTTCTGGCCCTGCACAACCAGATCAGG
AACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCGTCTGCCGACGAGAAGCGGTACCGGGCCTTGAAGCGCACCGCAGAGAGAGAGCTGCTGATGAA
CGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCGCTCCATTTTAATCGACGAAAGCACCCAGGCCACCGAGCCGGAGTGCATGGTTCCCGTGGTCC
TCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGAAGGCGGCCAAGGCCGGGCTGTCACAGTCGCTCTTCGAGCGCCTGGTGGTGCTGGGCATCCGG
CCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTCTACGAGGGCTCCCTCCAGAATGGTGTCACTGCAGCGGATCGTGTGAAGAAGGGATTTGACTT
CCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAGCTCGGGCACCTCCTACCTGAACAGGACCGAGGCTGCGAACGTGGAGAAGATCACCACGAAGT
TGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCTACCTGGTGCAGTACATGCAGTTCAGCGGCTCCCTGCACACCAAGCTCTACCAGGAGGTGGAG
ATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCCAACGAGCACCAAGGCATTGGCTTTTTAAATGACCCCAGGCGTCTGAACGTGGCCCTGACCAG
AGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCACCTGCTGAACTACTATAAGGAGCAGAAGGTGCTGGTGGAGGGGCCGCTCAACAACCTGCGTG
AGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCATGACCACAGCCATGTATGATGCCCGGGAGGCCATCATCCCAGGCTCCGTCTATGATCGGAGC
AGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGCCCTAGCCACGTGGCTGCCATGAACATTCCCATCCCCTTCAACCTGGTCATGCCACCCATGCC
ACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGACTGGTCGTGGGGGACGCCAGAAGAACCGCTTTGGGCTTCCTGGACCCAGCCAGACTAACCTCC
CCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCTACATCTCCATGAGCCAGCCTTCCCAGATGAGCCAGCCCGGCCTCTCCCAGCCGGAGCTGTCC
CAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACGTACCAGGGAGAGCGGGCTTACCAGCATGGCGGGGTGACGGGGCTGTCCCAGTATTAAAAGGT
GGCGGCGGAAGAGCTAAGCAACGTGGCTTAGTCCATCAGCATCTTATTCTGGGTAATAAAAAATAAAAATAAACGGATACCTGTTTTCCACTGCTAAAACTGAAGCACCACTGTGTGAGCAACAGGAA
GGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGCAGAGGGAGCGGAGGAGGGGCCGGCCCGCGGGAGCCGCGGCCACCAGGAGGCCCCGCTCCGTC
CCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCG
CATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCA
TTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGA
AGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGC
TGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGA
GGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGT
CCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGA
AACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGC
GGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGAC
TCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCC
CGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATT
TAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCA

hide sequence

RefSeq Acc Id:

XM_017027106 ⟹ XP_016882595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,831,959 - 18,868,230 (+)	NCBI

Sequence:

show sequence

ATGGAGTCTCACTCTGTCTCCCAGGCTGGTCTCGAACTCCTGAGTTCAAGCAGTTCTCCCGCCT
CAGCCTCTGAGTGTTGGGATTACAGGTGTGACCACCGCGCCGAGCCCCACTCCCTTTTTAAACCAATGCACAGGGAGCATCTACTATGTGCGAGGCACCCTCCATTTTACAGATGGGGAAACTGAGTT
CCAAGCAGCTTTTGCCAGGAGTGGGAGCGCACCGTCCCTGCCCAGTCTCTCCAGTTGGGCGTTCCGAGACCACCTATGTAGGGTATTCGGCTAGCGCTCAATTAAACCGAAACACCGTCGCAGCGACC
ACAGGTGCAGACCACCAAGTCCACACCGCCAGCCGCCCGGGCGTCCCCAATTAGCAGTTGGGGCGGGACCAAGTCCTCGAGCTGCCGCCGCAGCGGCGGTTGAAAGCCCCACCCCCTGCGCGTGCGCG
GTGCGCGTCCCGTCTTCCTGCTGGGCACCAGGCGCCCGCGAAGAGCGCGCGCGCTTCCGCCGGCGTCGGGCTCGCGCACGCGCACGGCGACGGCGGCGGTGGCGGCAGTTCCTGCTCTAGGCTGCGAG
CGGCTGGCGGCTTCGAGGGGAGCTGAGGCGCGGAGGGGCTCGGCGGCAGCGGCGGCGGCTCGGCACTGTTACCTCTCGGTCCGGCTGGCGCCGGGGCGCGCGGTTTGGTCCTTTCCGGGCGCGCGGGG
GCGACAGCGGCAGCGACCCGAGGCCTGCGGCCTAGGCCTCAGCGCGGCGGCGGGCTCGAGTGCAGCGCGGAACCGGCCCGAGGGCCCTACCCGGAGGCACCATGAGCGTGGAGGCGTACGGGCCCAGC
TCGCAGACTCTCACTTTCCTGGACACGGAGGAGGCCGAGCTGCTTGGCGCCGACACACAGGGCTCCGAGTTCGAGTTCACCGACTTTACTCTTCCTAGCCAGACGCAGACGCCCCCCGGCGGCCCCGG
CGGCCCGGGCGGTGGCGGCGCGGGAGGCCCGGGCGGCGCGGGCGCGGGCGCTGCGGCGGGACAGCTCGACGCGCAGGTTGGGCCCGAAGGCATCCTGCAGAACGGGGCTGTGGACGACAGTGTAGCCA
AGACCAGCCAGTTGTTGGCTGAGTTGAACTTCGAGGAAGATGAAGAAGACACCTATTACACGAAGGACCTCCCCATACACGCCTGCAGTTACTGTGGAATACACGATCCTGCCTGCGTGGTTTACTGT
AATACCAGCAAGAAGTGGTTCTGCAACGGACGTGGAAATACTTCTGGCAGCCACATTGTAAATCACCTTGTGAGGGCAAAATGCAAAGAGGTGACCCTGCACAAGGACGGGCCCCTGGGGGAGACAGT
CCTGGAGTGCTACAACTGCGGCTGTCGCAACGTCTTCCTCCTCGGCTTCATCCCGGCCAAAGCTGACTCAGTGGTGGTGCTGCTGTGCAGGCAGCCCTGTGCCAGCCAGAGCAGCCTCAAGGACATCA
ACTGGGACAGCTCGCAGTGGCAGCCGCTGATCCAGGACCGCTGCTTCCTGTCCTGGCTGGTCAAGATCCCCTCCGAGCAGGAGCAGCTGCGGGCACGCCAGATCACGGCACAGCAGATCAACAAGCTG
GAGGAGCTGTGGAAGGAAAACCCTTCTGCCACGCTGGAGGACCTGGAGAAGCCGGGGGTGGACGAGGAGCCGCAGCATGTCCTCCTGCGGTACGAGGACGCCTACCAGTACCAGAACATATTCGGGCC
CCTGGTCAAGCTGGAGGCCGACTACGACAAGAAGCTGAAGGAGTCCCAGACTCAAGATAACATCACTGTCAGGTGGGACCTGGGCCTTAACAAGAAGAGAATCGCCTACTTCACTTTGCCCAAGACTG
ACTCTGACATGCGGCTCATGCAGGGGGATGAGATATGCCTGCGGTACAAAGGGGACCTTGCGCCCCTGTGGAAAGGGATCGGCCACGTCATCAAGGTCCCTGATAATGCAAACTTAACTCAGCACACA
GATTATGGCGATGAGATCGCCATTGAGCTGCGGAGCAGCGTGGGTGCACCTGTGGAGGTGACTCACAACTTCCAGGTGGATTTTGTGTGGAAGTCGACCTCCTTTGACAGGATGCAGAGCGCATTGAA
AACGTTTGCCGTGGATGAGACCTCGGTGTCTGGCTACATCTACCACAAGCTGTTGGGCCACGAGGTGGAGGACGTAATCATCAAGTGCCAGCTGCCCAAGCGCTTCACGGCGCAGGGCCTCCCCGACC
TCAACCACTCCCAGGTTTATGCCGTGAAGACTGTGCTGCAAAGACCACTGAGCCTGATCCAGGGCCCGCCAGGCACGGGGAAGACGGTGACGTCGGCCACCATCGTCTACCACCTGGCCCGGCAAGGC
AACGGGCCGGTGCTGGTGTGTGCTCCGAGCAACATCGCCGTGGACCAGCTAACGGAGAAGATCCACCAGACGGGGCTAAAGGTCGTGCGCCTCTGCGCCAAGAGCCGTGAGGCCATCGACTCCCCGGT
GTCTTTTCTGGCCCTGCACAACCAGATCAGGAACATGGACAGCATGCCTGAGCTGCAGAAGCTGCAGCAGCTGAAAGACGAGACTGGGGAGCTGTCGTCTGCCGACGAGAAGCGGTACCGGGCCTTGA
AGCGCACCGCAGAGAGAGAGCTGCTGATGAACGCAGATGTCATCTGCTGCACATGTGTGGGCGCCGGTGACCCGAGGCTGGCCAAGATGCAGTTCCGCTCCATTTTAATCGACGAAAGCACCCAGGCC
ACCGAGCCGGAGTGCATGGTTCCCGTGGTCCTCGGGGCCAAGCAGCTGATCCTTGTAGGCGACCACTGCCAGCTGGGCCCAGTGGTGATGTGCAAGAAGGCGGCCAAGGCCGGGCTGTCACAGTCGCT
CTTCGAGCGCCTGGTGGTGCTGGGCATCCGGCCCATCCGCCTGCAGGTCCAGTACCGGATGCACCCTGCACTCAGCGCCTTCCCATCCAACATCTTCTACGAGGGCTCCCTCCAGAATGGTGTCACTG
CAGCGGATCGTGTGAAGAAGGGATTTGACTTCCAGTGGCCCCAACCCGATAAACCGATGTTCTTCTACGTGACCCAGGGCCAAGAGGAGATTGCCAGCTCGGGCACCTCCTACCTGAACAGGACCGAG
GCTGCGAACGTGGAGAAGATCACCACGAAGTTGCTGAAGGCAGGCGCCAAGCCGGACCAGATTGGCATCATCACGCCCTACGAGGGCCAGCGCTCCTACCTGGTGCAGTACATGCAGTTCAGCGGCTC
CCTGCACACCAAGCTCTACCAGGAGGTGGAGATCGCCAGTGTGGACGCCTTTCAGGGACGCGAGAAGGACTTCATCATCCTGTCCTGTGTGCGGGCCAACGAGCACCAAGGCATTGGCTTTTTAAATG
ACCCCAGGCGTCTGAACGTGGCCCTGACCAGAGCAAGGTATGGCGTCATCATTGTGGGCAACCCGAAGGCACTATCAAAGCAGCCGCTCTGGAACCACCTGCTGAACTACTATAAGGAGCAGAAGGTG
CTGGTGGAGGGGCCGCTCAACAACCTGCGTGAGAGCCTCATGCAGTTCAGCAAGCCACGGAAGCTGGTCAACACTATCAACCCGGGAGCCCGCTTCATGACCACAGCCATGTATGATGCCCGGGAGGC
CATCATCCCAGGCTCCGTCTATGATCGGAGCAGCCAGGGCCGGCCTTCCAGCATGTACTTCCAGACCCATGACCAGATTGGCATGATCAGTGCCGGCCCTAGCCACGTGGCTGCCATGAACATTCCCA
TCCCCTTCAACCTGGTCATGCCACCCATGCCACCGCCTGGCTATTTTGGACAAGCCAACGGGCCTGCTGCAGGGCGAGGCACCCCGAAAGGCAAGACTGGTCGTGGGGGACGCCAGAAGAACCGCTTT
GGGCTTCCTGGACCCAGCCAGACTAACCTCCCCAACAGCCAAGCCAGCCAGGATGTGGCGTCACAGCCCTTCTCTCAGGGCGCCCTGACGCAGGGCTACATCTCCATGAGCCAGCCTTCCCAGATGAG
CCAGCCCGGCCTCTCCCAGCCGGAGCTGTCCCAGGACAGTTACCTTGGTGACGAGTTTAAATCACAAATCGACGTGGCGCTCTCACAGGACTCCACGTACCAGGGAGAGCGGGCTTACCAGCATGGCG
GGGTGACGGGGCTGTCCCAGTATTAAAAGGTGGCGGCGGAAGAGCTAAGCAACGTGGCTTAGTCCATCAGCATCTTATTCTGGGTAATAAAAAATAAAAATAAACGGATACCTGTTTTCCACTGCTAA
AACTGAAGCACCACTGTGTGAGCAACAGGAAGGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGCAGAGGGAGCGGAGGAGGGGCCGGCCCGCGGG
AGCCGCGGCCACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGG
GGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGG
TCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAA
AATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCC
AGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACC
GGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTG
GAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGA
TGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGA
ACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGG
ACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGC
GGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCA
AGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCA

hide sequence

RefSeq Acc Id:

XM_047439191 ⟹ XP_047295147

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,833,674 - 18,868,230 (+)	NCBI

RefSeq Acc Id:

XM_054321670 ⟹ XP_054177645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI

RefSeq Acc Id:

XM_054321671 ⟹ XP_054177646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	18,967,570 - 19,003,847 (+)	NCBI

RefSeq Acc Id:

XM_054321672 ⟹ XP_054177647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	18,969,285 - 19,003,847 (+)	NCBI


Protein RefSeqs	NP_001284478	(Get FASTA)	NCBI Sequence Viewer
	NP_002902	(Get FASTA)	NCBI Sequence Viewer
	XP_016882594	(Get FASTA)	NCBI Sequence Viewer
	XP_016882595	(Get FASTA)	NCBI Sequence Viewer
	XP_047295147	(Get FASTA)	NCBI Sequence Viewer
	XP_054177645	(Get FASTA)	NCBI Sequence Viewer
	XP_054177646	(Get FASTA)	NCBI Sequence Viewer
	XP_054177647	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB94785	(Get FASTA)	NCBI Sequence Viewer
	AAC09016	(Get FASTA)	NCBI Sequence Viewer
	AAC26788	(Get FASTA)	NCBI Sequence Viewer
	AAC50771	(Get FASTA)	NCBI Sequence Viewer
	AAC51140	(Get FASTA)	NCBI Sequence Viewer
	AAH39817	(Get FASTA)	NCBI Sequence Viewer
	AIA19311	(Get FASTA)	NCBI Sequence Viewer
	AIA19312	(Get FASTA)	NCBI Sequence Viewer
	AIA19313	(Get FASTA)	NCBI Sequence Viewer
	AIA19314	(Get FASTA)	NCBI Sequence Viewer
	AIA19315	(Get FASTA)	NCBI Sequence Viewer
	AIA19316	(Get FASTA)	NCBI Sequence Viewer
	AIA19317	(Get FASTA)	NCBI Sequence Viewer
	AIA19318	(Get FASTA)	NCBI Sequence Viewer
	AIA19319	(Get FASTA)	NCBI Sequence Viewer
	AIA19320	(Get FASTA)	NCBI Sequence Viewer
	AIA19321	(Get FASTA)	NCBI Sequence Viewer
	AIA19322	(Get FASTA)	NCBI Sequence Viewer
	AIA19323	(Get FASTA)	NCBI Sequence Viewer
	AIA19324	(Get FASTA)	NCBI Sequence Viewer
	AIA19325	(Get FASTA)	NCBI Sequence Viewer
	AIA19326	(Get FASTA)	NCBI Sequence Viewer
	AIA19327	(Get FASTA)	NCBI Sequence Viewer
	AIA19328	(Get FASTA)	NCBI Sequence Viewer
	AZI15648	(Get FASTA)	NCBI Sequence Viewer
	BAA19664	(Get FASTA)	NCBI Sequence Viewer
	BAC86297	(Get FASTA)	NCBI Sequence Viewer
	BAG54717	(Get FASTA)	NCBI Sequence Viewer
	EAW84738	(Get FASTA)	NCBI Sequence Viewer
	EAW84739	(Get FASTA)	NCBI Sequence Viewer
	EAW84740	(Get FASTA)	NCBI Sequence Viewer
	EAW84741	(Get FASTA)	NCBI Sequence Viewer
	EAW84742	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000262803
	ENSP00000262803.5
	ENSP00000470142
	ENSP00000470142.1
GenBank Protein	Q92900	(Get FASTA)	NCBI Sequence Viewer
	QTH36736	(Get FASTA)	NCBI Sequence Viewer
	QTH36737	(Get FASTA)	NCBI Sequence Viewer
	QTH36738	(Get FASTA)	NCBI Sequence Viewer
	QTH36739	(Get FASTA)	NCBI Sequence Viewer
	QTH36740	(Get FASTA)	NCBI Sequence Viewer
	QTH36741	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_002902 ⟸ NM_002911
- Peptide Label:	isoform 2
- UniProtKB:	A0A024R7L5 (UniProtKB/TrEMBL), A0A994J4L7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGI HDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQ ITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVP DNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQ GNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQ ATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASSGTSYLNRT EAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLLNYYKEQK VLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTGRGGRQKNR FGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY hide sequence

RefSeq Acc Id:	NP_001284478 ⟸ NM_001297549
- Peptide Label:	isoform 1
- UniProtKB:	Q86Z25 (UniProtKB/Swiss-Prot), O43343 (UniProtKB/Swiss-Prot), O00239 (UniProtKB/Swiss-Prot), Q92842 (UniProtKB/Swiss-Prot), Q92900 (UniProtKB/Swiss-Prot), A0A994J4L7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGI HDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQ ITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVIIWLRDMRLMQGDEICLRYKGDLAPL WKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVT SATIVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQ FRSILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEI ASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLW NHLLNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKG KTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY hide sequence

RefSeq Acc Id:	XP_016882594 ⟸ XM_017027105
- Peptide Label:	isoform X1
- UniProtKB:	A0A994J4L7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGI HDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQ ITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSGNEDLVIIWLRDMRLMQGDEICLRYKGDLAPL WKGIGHVIKVPDNANLTQHTDYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGP PGTGKTVTSATIVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAG DPRLAKMQFRSILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFY VTQGQEEIASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPK ALSKQPLWNHLLNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPA AGRGTPKGKTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY hide sequence

RefSeq Acc Id:	XP_016882595 ⟸ XM_017027106
- Peptide Label:	isoform X2
- UniProtKB:	A0A994J4L7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGI HDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQ ITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVP DNANLTQHTDYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSAT IVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRS ILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASS GTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHL LNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTG RGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY hide sequence

Ensembl Acc Id:

ENSP00000470142 ⟸ ENST00000599848

Protein Domains

DNA2/NAM7 helicase helicase DNA2/NAM7 helicase-like C-terminal UPF1 Upf1 CH-rich

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q92900-F1-model_v2	AlphaFold	Q92900	1-1129	view protein structure

RGD ID:

6796226

Promoter ID:

HG_KWN:29323

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:

NM_002911, UC002NKG.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	18,803,479 - 18,803,979 (+)	MPROMDB

RGD ID:

6811811

Promoter ID:

HG_ACW:40544

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

UPF1.KAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	18,804,191 - 18,804,691 (+)	MPROMDB

RGD ID:

7239179

Promoter ID:

EPDNEW_H25336

Type:

initiation region

Name:

UPF1_1

Description:

UPF1, RNA helicase and ATPase

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	19	18,831,959 - 18,832,019	EPDNEW

Database	Acc Id	Source(s)
COSMIC	UPF1	COSMIC
Ensembl Genes	ENSG00000005007	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000262803	ENTREZGENE
	ENST00000262803.10	UniProtKB/Swiss-Prot
	ENST00000599848	ENTREZGENE
	ENST00000599848.5	UniProtKB/Swiss-Prot
	ENST00000601981	ENTREZGENE
Gene3D-CATH	2.40.30.230	UniProtKB/Swiss-Prot
	3.40.50.300	UniProtKB/Swiss-Prot
	6.10.140.1240	UniProtKB/Swiss-Prot
GTEx	ENSG00000005007	GTEx
HGNC ID	HGNC:9962	ENTREZGENE
Human Proteome Map	UPF1	Human Proteome Map
InterPro	DNA2/NAM7-like	UniProtKB/Swiss-Prot
	DNA2/NAM7-like_AAA	UniProtKB/Swiss-Prot
	DNA2/NAM7_AAA_11	UniProtKB/Swiss-Prot
	DUF5599	UniProtKB/Swiss-Prot
	Helicase/UvrB_N	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
	RNA-helicase_UPF1_UPF2-interct	UniProtKB/Swiss-Prot
	SF1_C_Upf1	UniProtKB/Swiss-Prot
KEGG Report	hsa:5976	UniProtKB/Swiss-Prot
NCBI Gene	5976	ENTREZGENE
OMIM	601430	OMIM
PANTHER	PTHR10887	UniProtKB/Swiss-Prot
	REGULATOR OF NONSENSE TRANSCRIPTS 1	UniProtKB/Swiss-Prot
Pfam	AAA_11	UniProtKB/Swiss-Prot
	AAA_12	UniProtKB/Swiss-Prot
	DUF5599	UniProtKB/Swiss-Prot
	ResIII	UniProtKB/Swiss-Prot
	UPF1_Zn_bind	UniProtKB/Swiss-Prot
PharmGKB	PA34328	PharmGKB
PROSITE	UPF1_CH_RICH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot
UniProt	A0A024R7L5	ENTREZGENE, UniProtKB/TrEMBL
	A0A059X4U2_HUMAN	UniProtKB/TrEMBL
	A0A059XAJ5_HUMAN	UniProtKB/TrEMBL
	A0A059XAL2_HUMAN	UniProtKB/TrEMBL
	A0A059XAL6_HUMAN	UniProtKB/TrEMBL
	A0A059XAM1_HUMAN	UniProtKB/TrEMBL
	A0A059XBJ1_HUMAN	UniProtKB/TrEMBL
	A0A059XBJ6_HUMAN	UniProtKB/TrEMBL
	A0A059XG67_HUMAN	UniProtKB/TrEMBL
	A0A059XG73_HUMAN	UniProtKB/TrEMBL
	A0A8A5YNF9_HUMAN	UniProtKB/TrEMBL
	A0A8A5YNG5_HUMAN	UniProtKB/TrEMBL
	A0A8A5YP40_HUMAN	UniProtKB/TrEMBL
	A0A8A5YPS5_HUMAN	UniProtKB/TrEMBL
	A0A994J4L7	ENTREZGENE, UniProtKB/TrEMBL
	A0A994J597_HUMAN	UniProtKB/TrEMBL
	A0A994J773_HUMAN	UniProtKB/TrEMBL
	B3KY55_HUMAN	UniProtKB/TrEMBL
	O00239	ENTREZGENE
	O43343	ENTREZGENE
	Q86Z25	ENTREZGENE
	Q92842	ENTREZGENE
	Q92900	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	O00239	UniProtKB/Swiss-Prot
	O43343	UniProtKB/Swiss-Prot
	Q86Z25	UniProtKB/Swiss-Prot
	Q92842	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	UPF1	UPF1 RNA helicase and ATPase	UPF1	UPF1, RNA helicase and ATPase	Symbol and/or name change	5135510	APPROVED
2016-03-21	UPF1	UPF1, RNA helicase and ATPase	UPF1	UPF1 regulator of nonsense transcripts homolog (yeast)	Symbol and/or name change	5135510	APPROVED

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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Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar