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Gene: PPFIA3 (PTPRF interacting protein alpha 3) Homo sapiens

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Symbol:

PPFIA3

Name:

PTPRF interacting protein alpha 3

RGD ID:

1312318

HGNC Page

HGNC:9247

Description:

Predicted to be involved in neurotransmitter secretion; regulation of short-term neuronal synaptic plasticity; and synapse organization. Located in acrosomal vesicle.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

KIAA0654; liprin; liprin-alpha 3; liprin-alpha-3; LPNA3; MGC126567; MGC126569; NEDPACH; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3; protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3; PTPRF-interacting protein alpha-3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	49,119,544 - 49,151,026 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	49,119,544 - 49,151,026 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	49,622,801 - 49,654,283 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	54,314,475 - 54,346,095 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	54,314,474 - 54,346,090	NCBI
Celera	19	46,489,883 - 46,521,507 (+)	NCBI		Celera
Cytogenetic Map	19	q13.33	NCBI
HuRef	19	45,998,810 - 46,030,520 (+)	NCBI		HuRef
CHM1_1	19	49,624,758 - 49,656,397 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	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)
PPFIA3	Human	developmental and epileptic encephalopathy 12		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 12	ClinVar	PMID:28492532
PPFIA3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
PPFIA3	Human	Hao-Fountain Syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH more ...	ClinVar
PPFIA3	Human	Hao-Fountain Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH more ...	ClinVar	PMID:25741868
PPFIA3	Human	progressive familial heart block type IB		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive familial heart block type IB	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPFIA3	Human	1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
PPFIA3	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of PPFIA3 mRNA	CTD	PMID:22206623
PPFIA3	Human	1,2-dimethylhydrazine	decreases expression	ISO	Ppfia3 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of PPFIA3 mRNA	CTD	PMID:22206623
PPFIA3	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with TGFB1 protein] results in increased expression of PPFIA3 mRNA	CTD	PMID:30165855
PPFIA3	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of PPFIA3 mRNA	CTD	PMID:29581250
PPFIA3	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
PPFIA3	Human	2,2',4,4'-Tetrabromodiphenyl ether	decreases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:21394737
PPFIA3	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
PPFIA3	Human	2,3',4,4',5-Pentachlorobiphenyl	decreases expression	ISO	Ppfia3 (Mus musculus)	6480464	2 more ...	CTD	PMID:31388691
PPFIA3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PPFIA3 mRNA	CTD	PMID:15034205
PPFIA3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PPFIA3 mRNA	CTD	PMID:32109520 and PMID:33387578
PPFIA3	Human	2,4,4'-trichlorobiphenyl	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
PPFIA3	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Ppfia3 (Mus musculus)	6480464	bisphenol S affects the methylation of PPFIA3 exon and bisphenol S affects the methylation of PPFIA3 gene	CTD	PMID:31683443 and PMID:33297965
PPFIA3	Human	4,4'-sulfonyldiphenol	multiple interactions	ISO	Ppfia3 (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36041667
PPFIA3	Human	6-propyl-2-thiouracil	decreases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of PPFIA3 mRNA	CTD	PMID:37926403
PPFIA3	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of PPFIA3 intron	CTD	PMID:30157460
PPFIA3	Human	all-trans-retinoic acid	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36189433
PPFIA3	Human	ammonium chloride	affects expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of PPFIA3 mRNA	CTD	PMID:16483693
PPFIA3	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of PPFIA3 gene	CTD	PMID:25304211
PPFIA3	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of PPFIA3 gene	CTD	PMID:25304211
PPFIA3	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of PPFIA3 mRNA	CTD	PMID:22378314
PPFIA3	Human	atrazine	decreases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Atrazine results in decreased expression of PPFIA3 mRNA	CTD	PMID:36841081
PPFIA3	Human	benzo[a]pyrene	decreases expression	ISO	Ppfia3 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of PPFIA3 mRNA	CTD	PMID:15034205
PPFIA3	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of PPFIA3 5' UTR and Benzo(a)pyrene affects the methylation of PPFIA3 intron	CTD	PMID:27901495 and PMID:30157460
PPFIA3	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of PPFIA3 3' UTR and Benzo(a)pyrene results in increased methylation of PPFIA3 promoter	CTD	PMID:27901495
PPFIA3	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of PPFIA3 mRNA	CTD	PMID:38218311
PPFIA3	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	Diethylhexyl Phthalate inhibits the reaction [[Streptozocin co-treated with Dietary Fats] results in increased expression of PPFIA3 mRNA]	CTD	PMID:33484791
PPFIA3	Human	bisphenol A	multiple interactions	ISO	Ppfia3 (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36041667
PPFIA3	Human	bisphenol F	multiple interactions	ISO	Ppfia3 (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36041667
PPFIA3	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of PPFIA3 mRNA	CTD	PMID:38568856
PPFIA3	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of PPFIA3 protein	CTD	PMID:35688186
PPFIA3	Human	carbon nanotube	decreases expression	ISO	Ppfia3 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
PPFIA3	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to PPFIA3 gene]	CTD	PMID:28238834
PPFIA3	Human	chrysene	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	chrysene results in increased expression of PPFIA3 mRNA	CTD	PMID:26377693
PPFIA3	Human	cocaine	increases expression	EXP		6480464	Cocaine results in increased expression of PPFIA3 protein	CTD	PMID:17075605
PPFIA3	Human	crocidolite asbestos	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	Asbestos and Crocidolite results in increased expression of PPFIA3 mRNA	CTD	PMID:29279043
PPFIA3	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of PPFIA3 gene	CTD	PMID:22964155
PPFIA3	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of PPFIA3 mRNA	CTD	PMID:28302478
PPFIA3	Human	diquat	decreases expression	ISO	Ppfia3 (Mus musculus)	6480464	Diquat results in decreased expression of PPFIA3 protein	CTD	PMID:36851058
PPFIA3	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPFIA3 mRNA	CTD	PMID:27188386
PPFIA3	Human	ethanol	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	Ethanol results in increased expression of PPFIA3 mRNA	CTD	PMID:30319688
PPFIA3	Human	ethanol	affects splicing	ISO	Ppfia3 (Mus musculus)	6480464	Ethanol affects the splicing of PPFIA3 mRNA	CTD	PMID:30319688
PPFIA3	Human	folic acid	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of PPFIA3 mRNA	CTD	PMID:22206623
PPFIA3	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of PPFIA3 protein	CTD	PMID:37730182
PPFIA3	Human	gentamycin	increases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of PPFIA3 mRNA	CTD	PMID:33387578
PPFIA3	Human	GSK-J4	decreases expression	EXP		6480464	GSK-J4 results in decreased expression of PPFIA3 mRNA	CTD	PMID:29301935
PPFIA3	Human	maneb	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of PPFIA3 mRNA and [Maneb co-treated with Paraquat] results in increased expression of PPFIA3 mRNA	CTD	PMID:36117858
PPFIA3	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36189433
PPFIA3	Human	N-ethyl-N-nitrosourea	increases mutagenesis	ISO	Ppfia3 (Mus musculus)	6480464	Ethylnitrosourea results in increased mutagenesis of PPFIA3 gene	CTD	PMID:27776689
PPFIA3	Human	niclosamide	increases expression	EXP		6480464	Niclosamide results in increased expression of PPFIA3 mRNA	CTD	PMID:36318118
PPFIA3	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of PPFIA3 mRNA	CTD	PMID:38832940
PPFIA3	Human	paracetamol	affects expression	ISO	Ppfia3 (Mus musculus)	6480464	Acetaminophen affects the expression of PPFIA3 mRNA	CTD	PMID:17562736
PPFIA3	Human	paracetamol	increases expression	ISO	Ppfia3 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of PPFIA3 mRNA	CTD	PMID:33387578
PPFIA3	Human	paraquat	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of PPFIA3 mRNA and [Maneb co-treated with Paraquat] results in increased expression of PPFIA3 mRNA	CTD	PMID:36117858
PPFIA3	Human	PCB138	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
PPFIA3	Human	phenylmercury acetate	decreases expression	EXP		6480464	Phenylmercuric Acetate results in decreased expression of PPFIA3 mRNA	CTD	PMID:26272509
PPFIA3	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPFIA3 mRNA	CTD	PMID:27188386
PPFIA3	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PPFIA3 mRNA	CTD	PMID:27188386
PPFIA3	Human	sodium arsenite	affects methylation	EXP		6480464	sodium arsenite affects the methylation of PPFIA3 gene	CTD	PMID:28589171
PPFIA3	Human	sotorasib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36139627
PPFIA3	Human	streptozocin	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[Streptozocin co-treated with Dietary Fats] results in increased expression of PPFIA3 mRNA and Diethylhexyl Phthalate inhibits the reaction [[Streptozocin co-treated with Dietary Fats] results in increased expression of PPFIA3 mRNA]	CTD	PMID:33484791
PPFIA3	Human	succimer	multiple interactions	ISO	Ppfia3 (Mus musculus)	6480464	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of PPFIA3 mRNA	CTD	PMID:21641980
PPFIA3	Human	tamoxifen	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	Tamoxifen results in increased expression of PPFIA3 mRNA	CTD	PMID:25123088
PPFIA3	Human	titanium dioxide	increases methylation	ISO	Ppfia3 (Mus musculus)	6480464	titanium dioxide results in increased methylation of PPFIA3 gene	CTD	PMID:35295148
PPFIA3	Human	titanium dioxide	decreases methylation	ISO	Ppfia3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of PPFIA3 gene	CTD	PMID:35295148
PPFIA3	Human	trametinib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of PPFIA3 mRNA	CTD	PMID:36139627
PPFIA3	Human	triptonide	increases expression	ISO	Ppfia3 (Mus musculus)	6480464	triptonide results in increased expression of PPFIA3 mRNA	CTD	PMID:33045310
PPFIA3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PPFIA3 gene	CTD	PMID:29154799
PPFIA3	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PPFIA3 mRNA	CTD	PMID:25979313

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)
PPFIA3	Human	neurotransmitter secretion		ISO	Ppfia3 (Rattus norvegicus)	9068941		RGD	PMID:11797009 and REF_RGD_ID:633666
PPFIA3	Human	neurotransmitter secretion	involved_in	ISS	UniProtKB:Q91Z79	150520179		ParkinsonsUK-UCL	GO_REF:0000024
PPFIA3	Human	regulation of short-term neuronal synaptic plasticity		ISO	Ppfia3 (Rattus norvegicus)	9068941		RGD	PMID:11797009 and REF_RGD_ID:633666
PPFIA3	Human	regulation of short-term neuronal synaptic plasticity	involved_in	ISS	UniProtKB:Q91Z79	150520179		ParkinsonsUK-UCL	GO_REF:0000024
PPFIA3	Human	synapse organization	involved_in	IBA	FB:FBgn0036376 more ...	150520179		GO_Central	GO_REF:0000033
PPFIA3	Human	synaptic vesicle docking	involved_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107
PPFIA3	Human	synaptic vesicle exocytosis	involved_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107

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)
PPFIA3	Human	acrosomal vesicle	located_in	IDA		150520179	PMID:23124857	UniProt	PMID:23124857
PPFIA3	Human	acrosomal vesicle	located_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107
PPFIA3	Human	acrosomal vesicle	located_in	IEA	UniProtKB-SubCell:SL-0007	150520179		UniProt	GO_REF:0000044
PPFIA3	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
PPFIA3	Human	cytoplasm	located_in	IEA	ARBA:ARBA00026971	150520179		UniProt	GO_REF:0000117
PPFIA3	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PPFIA3	Human	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
PPFIA3	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-210426 more ...
PPFIA3	Human	epididymosome	located_in	ISS	UniProtKB:Q91Z79	150520179		UniProt	GO_REF:0000024
PPFIA3	Human	glutamatergic synapse	is_active_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107
PPFIA3	Human	presynaptic active zone	located_in	TAS		150520179	PMID:15217342	ParkinsonsUK-UCL	PMID:15217342
PPFIA3	Human	presynaptic active zone	is_active_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107
PPFIA3	Human	presynaptic active zone	is_active_in	IBA	FB:FBgn0046704 more ...	150520179		GO_Central	GO_REF:0000033
PPFIA3	Human	presynaptic active zone cytoplasmic component	is_active_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107
PPFIA3	Human	synapse	is_active_in	IEA	UniProtKB:P60469 and ensembl:ENSMUSP00000003961	150520179		Ensembl	GO_REF:0000107

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)
PPFIA3	Human	protein binding		ISO	Rims1 (Rattus norvegicus)	9068941		RGD	PMID:11797009 and REF_RGD_ID:633666
PPFIA3	Human	protein binding	enables	IPI	UniProtKB:O15083	150520179	PMID:12923177	UniProt	PMID:12923177
PPFIA3	Human	protein binding	enables	IPI	UniProtKB:O60504 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
PPFIA3	Human	protein binding		ISO	Rims2 (Rattus norvegicus)	9068941		RGD	PMID:11797009 and REF_RGD_ID:633666

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PPFIA3	Human	Neurodevelopmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental delay	ClinVar	PMID:25741868
PPFIA3	Human	Neurodevelopmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental delay	ClinVar	PMID:25741868

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

PMID:9624153	PMID:9734811	PMID:12168954	PMID:12477932	PMID:12923177	PMID:14702039	PMID:15217342	PMID:15489334	PMID:16344560	PMID:17474147	PMID:18782753	PMID:21873635
PMID:23124857	PMID:23443559	PMID:26186194	PMID:26496610	PMID:27143812	PMID:27880917	PMID:28330616	PMID:28514442	PMID:29117863	PMID:29121065	PMID:29676528	PMID:30021884
PMID:31182584	PMID:31300519	PMID:31753913	PMID:31839598	PMID:32296183	PMID:32918875	PMID:33187986	PMID:33961781	PMID:34187934	PMID:35063084	PMID:35271311	PMID:35906200
PMID:38181735

PPFIA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	49,119,544 - 49,151,026 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	49,622,801 - 49,654,283 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	54,314,475 - 54,346,095 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	54,314,474 - 54,346,090	NCBI
Celera	19	46,489,883 - 46,521,507 (+)	NCBI		Celera
Cytogenetic Map	19	q13.33	NCBI
HuRef	19	45,998,810 - 46,030,520 (+)	NCBI		HuRef
CHM1_1	19	49,624,758 - 49,656,397 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI		T2T-CHM13v2.0

Ppfia3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	44,988,550 - 45,016,443 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	44,988,546 - 45,016,443 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	45,339,126 - 45,367,019 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	45,339,122 - 45,367,019 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	52,594,496 - 52,622,389 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	45,207,315 - 45,234,968 (-)	NCBI		MGSCv36	mm8
Celera	7	40,795,384 - 40,839,554 (-)	NCBI		Celera
Cytogenetic Map	7	B3	NCBI
cM Map	7	29.26	NCBI

Ppfia3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	104,953,598 - 104,982,373 (-)	NCBI		GRCr8
mRatBN7.2	1	95,817,110 - 95,845,950 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	95,817,110 - 95,845,798 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	101,202,552 - 101,231,232 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	109,675,227 - 109,703,909 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	102,965,627 - 102,994,309 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	101,328,547 - 101,357,391 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	101,327,998 - 101,351,879 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	102,392,070 - 102,421,097 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	95,808,898 - 95,837,739 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	95,890,235 - 95,915,719 (-)	NCBI
Celera	1	90,073,489 - 90,102,099 (-)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI

Ppfia3
(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_004955559	1,587,638 - 1,610,064 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955559	1,587,633 - 1,610,065 (-)	NCBI	ChiLan1.0	ChiLan1.0

PPFIA3
(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	55,234,484 - 55,265,941 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	57,153,939 - 57,185,473 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	46,130,396 - 46,162,065 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	55,056,824 - 55,089,124 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	55,056,824 - 55,089,124 (+)	Ensembl	panpan1.1		panPan2

PPFIA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	107,308,903 - 107,327,300 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	107,319,427 - 107,331,463 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	106,896,610 - 106,908,657 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	107,833,772 - 107,856,380 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	107,833,777 - 107,856,389 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	107,501,869 - 107,524,288 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	107,148,102 - 107,170,513 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	107,983,689 - 108,006,115 (-)	NCBI		UU_Cfam_GSD_1.0

Ppfia3
(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_024409349	21,445,428 - 21,469,838 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936664	3,063,564 - 3,089,481 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936664	3,063,607 - 3,088,031 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PPFIA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	54,313,981 - 54,337,338 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	54,313,981 - 54,337,345 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	49,991,058 - 50,014,411 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PPFIA3
(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	42,342,791 - 42,372,598 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	42,350,203 - 42,371,720 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	22,235,101 - 22,265,781 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ppfia3
(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_004624832	4,941,766 - 4,964,602 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	4,941,760 - 4,964,615 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PPFIA3
92 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_003660.4(PPFIA3):c.3307del (p.Glu1103fs)	deletion	Neurodevelopmental delay [RCV003315465]	Chr19:49149277 [GRCh38] Chr19:49652534 [GRCh37] Chr19:19q13.33	likely pathogenic
GRCh37/hg19 19q13.33(chr19:49635951-49675233)x3	copy number gain	not provided [RCV000752728]	Chr19:49635951..49675233 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19q13.33(chr19:49640002-49675233)x3	copy number gain	not provided [RCV000752730]	Chr19:49640002..49675233 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19q13.33(chr19:49640430-49703840)x3	copy number gain	See cases [RCV000448232]	Chr19:49640430..49703840 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19q13.33(chr19:49556215-49651042)x1	copy number loss	not provided [RCV000752727]	Chr19:49556215..49651042 [GRCh37] Chr19:19q13.33	benign
NM_003660.4(PPFIA3):c.698G>A (p.Arg233Gln)	single nucleotide variant	Inborn genetic diseases [RCV003254019]	Chr19:49130418 [GRCh38] Chr19:49633675 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2158C>T (p.Arg720Cys)	single nucleotide variant	Inborn genetic diseases [RCV003277327]	Chr19:49139749 [GRCh38] Chr19:49643006 [GRCh37] Chr19:19q13.33	uncertain significance
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
GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	copy number gain	not provided [RCV000684076]	Chr19:49645600..49891280 [GRCh37] Chr19:19q13.33	uncertain significance
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
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
NM_003660.4(PPFIA3):c.2717C>T (p.Ser906Leu)	single nucleotide variant	Neurodevelopmental delay [RCV003315464]\|PAUL-CHAO NEURODEVELOPMENTAL SYNDROME [RCV005239511]\|not provided [RCV004798009]	Chr19:49142976 [GRCh38] Chr19:49646233 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_003660.4(PPFIA3):c.1744G>A (p.Ala582Thr)	single nucleotide variant	Inborn genetic diseases [RCV003290250]	Chr19:49136802 [GRCh38] Chr19:49640059 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	copy number gain	not provided [RCV001249294]	Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42	not provided
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
NM_003660.4(PPFIA3):c.1765G>A (p.Glu589Lys)	single nucleotide variant	Inborn genetic diseases [RCV003254840]	Chr19:49136823 [GRCh38] Chr19:49640080 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33(chr19:49635951-49678085)x3	copy number gain	not provided [RCV000752729]	Chr19:49635951..49678085 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19q13.33(chr19:49651042-49660889)x0	copy number loss	not provided [RCV000752731]	Chr19:49651042..49660889 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	copy number gain	not provided [RCV000847250]	Chr19:49600909..51366070 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)	single nucleotide variant	PAUL-CHAO NEURODEVELOPMENTAL SYNDROME [RCV005240701]\|PPFIA3-related disorder [RCV003492820]\|not provided [RCV003128212]	Chr19:49133877 [GRCh38] Chr19:49637134 [GRCh37] Chr19:19q13.33	pathogenic\|uncertain significance
NM_003660.4(PPFIA3):c.1574C>A (p.Pro525His)	single nucleotide variant	not provided [RCV004787492]	Chr19:49135832 [GRCh38] Chr19:49639089 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.115C>T (p.Arg39Cys)	single nucleotide variant	PAUL-CHAO NEURODEVELOPMENTAL SYNDROME [RCV005240700]\|not provided [RCV003128211]	Chr19:49127988 [GRCh38] Chr19:49631245 [GRCh37] Chr19:19q13.33	pathogenic
NM_003660.4(PPFIA3):c.1638G>T (p.Trp546Cys)	single nucleotide variant	not provided [RCV003128213]	Chr19:49135896 [GRCh38] Chr19:49639153 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.239A>C (p.Gln80Pro)	single nucleotide variant	not provided [RCV003128214]	Chr19:49128112 [GRCh38] Chr19:49631369 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1492C>T (p.Arg498Trp)	single nucleotide variant	PAUL-CHAO NEURODEVELOPMENTAL SYNDROME [RCV005240712]\|PPFIA3-related disorder [RCV003327595]	Chr19:49134887 [GRCh38] Chr19:49638144 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_003660.4(PPFIA3):c.2907A>G (p.Gln969=)	single nucleotide variant	not provided [RCV001171809]	Chr19:49148154 [GRCh38] Chr19:49651411 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_003660.4(PPFIA3):c.1619_1620del (p.Ala540fs)	deletion	not provided [RCV001280727]	Chr19:49135877..49135878 [GRCh38] Chr19:49639134..49639135 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1687G>T (p.Ala563Ser)	single nucleotide variant	not provided [RCV001843609]	Chr19:49136745 [GRCh38] Chr19:49640002 [GRCh37] Chr19:19q13.33	benign
NC_000019.9:g.(?_49519325)_(50366015_?)dup	duplication	Developmental and epileptic encephalopathy, 12 [RCV002030046]	Chr19:49519325..50366015 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup	duplication	Developmental and epileptic encephalopathy, 12 [RCV001939968]\|not provided [RCV001916178]	Chr19:48618906..50921204 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3293A>C (p.Gln1098Pro)	single nucleotide variant	not provided [RCV004776739]	Chr19:49149264 [GRCh38] Chr19:49652521 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_49472545)_(49714755_?)del	deletion	Progressive familial heart block type IB [RCV003119771]	Chr19:49472545..49714755 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1499G>A (p.Arg500Lys)	single nucleotide variant	not provided [RCV004784574]	Chr19:49134894 [GRCh38] Chr19:49638151 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln)	single nucleotide variant	not specified [RCV002248124]	Chr19:49128001 [GRCh38] Chr19:49631258 [GRCh37] Chr19:19q13.33	uncertain significance
Single allele	duplication	not provided [RCV002266854]	Chr19:49131439..49174442 [GRCh38] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.613C>G (p.Arg205Gly)	single nucleotide variant	Inborn genetic diseases [RCV002990267]	Chr19:49130023 [GRCh38] Chr19:49633280 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.294G>C (p.Glu98Asp)	single nucleotide variant	Inborn genetic diseases [RCV002946511]	Chr19:49128420 [GRCh38] Chr19:49631677 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.698G>C (p.Arg233Pro)	single nucleotide variant	Inborn genetic diseases [RCV002793543]	Chr19:49130418 [GRCh38] Chr19:49633675 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3493C>G (p.Pro1165Ala)	single nucleotide variant	Inborn genetic diseases [RCV002818730]	Chr19:49149685 [GRCh38] Chr19:49652942 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1985C>G (p.Ser662Cys)	single nucleotide variant	Inborn genetic diseases [RCV002799748]	Chr19:49138336 [GRCh38] Chr19:49641593 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1577C>T (p.Ser526Phe)	single nucleotide variant	Inborn genetic diseases [RCV002846130]	Chr19:49135835 [GRCh38] Chr19:49639092 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1403A>G (p.Asn468Ser)	single nucleotide variant	Inborn genetic diseases [RCV002874156]	Chr19:49134664 [GRCh38] Chr19:49637921 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.260A>G (p.Lys87Arg)	single nucleotide variant	Inborn genetic diseases [RCV002763122]	Chr19:49128386 [GRCh38] Chr19:49631643 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.739G>A (p.Ala247Thr)	single nucleotide variant	Inborn genetic diseases [RCV002873066]	Chr19:49130459 [GRCh38] Chr19:49633716 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1603G>A (p.Ala535Thr)	single nucleotide variant	Inborn genetic diseases [RCV002941813]	Chr19:49135861 [GRCh38] Chr19:49639118 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.978C>G (p.Asn326Lys)	single nucleotide variant	Inborn genetic diseases [RCV002921028]	Chr19:49133099 [GRCh38] Chr19:49636356 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3152C>A (p.Ser1051Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003209334]	Chr19:49149035 [GRCh38] Chr19:49652292 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1126G>A (p.Ala376Thr)	single nucleotide variant	Inborn genetic diseases [RCV003193961]	Chr19:49133336 [GRCh38] Chr19:49636593 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1285C>T (p.Arg429Trp)	single nucleotide variant	PPFIA3-related disorder [RCV003320000]	Chr19:49134073 [GRCh38] Chr19:49637330 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.2350C>T (p.Arg784Trp)	single nucleotide variant	PPFIA3-related disorder [RCV003320001]	Chr19:49140070 [GRCh38] Chr19:49643327 [GRCh37] Chr19:19q13.33	pathogenic
NM_003660.4(PPFIA3):c.1675C>T (p.Arg559Trp)	single nucleotide variant	PPFIA3-related disorder [RCV003319999]	Chr19:49136733 [GRCh38] Chr19:49639990 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.2186_2193del (p.Gln729fs)	deletion	not provided [RCV003456595]	Chr19:49139777..49139784 [GRCh38] Chr19:49643034..49643041 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2706dup (p.Ser903fs)	duplication	PPFIA3-related disorder [RCV003444191]	Chr19:49142964..49142965 [GRCh38] Chr19:49646221..49646222 [GRCh37] Chr19:19q13.33	likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	copy number gain	not provided [RCV003485200]	Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43	likely pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	copy number gain	not specified [RCV003986127]	Chr19:48905537..51614930 [GRCh37] Chr19:19q13.33-13.41	likely pathogenic
Single allele	deletion	PPFIA3-related disorder [RCV003991563]	Chr19:49143485..49159174 [GRCh38] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.240+1G>A	single nucleotide variant	PPFIA3-related disorder [RCV003991561]	Chr19:49128114 [GRCh38] Chr19:49631371 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.943G>T (p.Ala315Ser)	single nucleotide variant	PPFIA3-related disorder [RCV003991562]	Chr19:49133064 [GRCh38] Chr19:49636321 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.1909C>T (p.Arg637Trp)	single nucleotide variant	Inborn genetic diseases [RCV004656090]	Chr19:49138260 [GRCh38] Chr19:49641517 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2353G>T (p.Asp785Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004656091]	Chr19:49140073 [GRCh38] Chr19:49643330 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.507G>T (p.Lys169Asn)	single nucleotide variant	Inborn genetic diseases [RCV004656092]	Chr19:49129012 [GRCh38] Chr19:49632269 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.902T>C (p.Met301Thr)	single nucleotide variant	Inborn genetic diseases [RCV004656093]	Chr19:49133023 [GRCh38] Chr19:49636280 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2470C>G (p.Leu824Val)	single nucleotide variant	Inborn genetic diseases [RCV004664802]	Chr19:49142041 [GRCh38] Chr19:49645298 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2560C>G (p.Pro854Ala)	single nucleotide variant	not provided [RCV004779708]	Chr19:49142819 [GRCh38] Chr19:49646076 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1966C>T (p.Pro656Ser)	single nucleotide variant	not provided [RCV004778869]	Chr19:49138317 [GRCh38] Chr19:49641574 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.723C>T (p.Ala241=)	single nucleotide variant	not provided [RCV004811829]	Chr19:49130443 [GRCh38] Chr19:49633700 [GRCh37] Chr19:19q13.33	likely benign
NM_003660.4(PPFIA3):c.281_285del (p.Glu94fs)	deletion	not provided [RCV004729231]	Chr19:49128406..49128410 [GRCh38] Chr19:49631663..49631667 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3318C>A (p.Asn1106Lys)	single nucleotide variant	not provided [RCV004729277]	Chr19:49149289 [GRCh38] Chr19:49652546 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.213G>T (p.Gln71His)	single nucleotide variant	not provided [RCV004726175]	Chr19:49128086 [GRCh38] Chr19:49631343 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1521-2A>G	single nucleotide variant	not provided [RCV004760859]		uncertain significance
NM_003660.4(PPFIA3):c.1223A>G (p.Glu408Gly)	single nucleotide variant	not provided [RCV004765994]	Chr19:49133857 [GRCh38] Chr19:49637114 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.952G>T (p.Glu318Ter)	single nucleotide variant	not provided [RCV004727633]	Chr19:49133073 [GRCh38] Chr19:49636330 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2692A>G (p.Ile898Val)	single nucleotide variant	not provided [RCV004769515]	Chr19:49142951 [GRCh38] Chr19:49646208 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1885C>T (p.Gln629Ter)	single nucleotide variant	not provided [RCV004759966]		uncertain significance
NM_003660.4(PPFIA3):c.241-1G>A	single nucleotide variant	not provided [RCV004776098]	Chr19:49128366 [GRCh38] Chr19:49631623 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.3047G>A (p.Arg1016Gln)	single nucleotide variant	not provided [RCV004772579]	Chr19:49148701 [GRCh38] Chr19:49651958 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.172C>A (p.Leu58Met)	single nucleotide variant	not provided [RCV004776240]	Chr19:49128045 [GRCh38] Chr19:49631302 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2809-7G>A	single nucleotide variant	PPFIA3-associated neurodevelopmental disorder [RCV004759526]		uncertain significance
NM_003660.4(PPFIA3):c.2600G>C (p.Ser867Thr)	single nucleotide variant	not provided [RCV004727619]	Chr19:49142859 [GRCh38] Chr19:49646116 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1224GAA[1] (p.Lys409del)	microsatellite	not provided [RCV004771196]	Chr19:49133857..49133859 [GRCh38] Chr19:49637114..49637116 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1725C>A (p.Asp575Glu)	single nucleotide variant	not provided [RCV004729194]	Chr19:49136783 [GRCh38] Chr19:49640040 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2488C>T (p.Arg830Cys)	single nucleotide variant	Inborn genetic diseases [RCV004953742]\|not provided [RCV004761214]		uncertain significance
NM_003660.4(PPFIA3):c.1813A>G (p.Met605Val)	single nucleotide variant	not provided [RCV005052654]	Chr19:49136871 [GRCh38] Chr19:49640128 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2512T>C (p.Trp838Arg)	single nucleotide variant	not provided [RCV005001765]	Chr19:49142083 [GRCh38] Chr19:49645340 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.413G>A (p.Arg138His)	single nucleotide variant	not provided [RCV005001506]	Chr19:49128918 [GRCh38] Chr19:49632175 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1780A>C (p.Ser594Arg)	single nucleotide variant	Inborn genetic diseases [RCV004954502]	Chr19:49136838 [GRCh38] Chr19:49640095 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1699C>A (p.Pro567Thr)	single nucleotide variant	Inborn genetic diseases [RCV004954503]	Chr19:49136757 [GRCh38] Chr19:49640014 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1549C>T (p.Arg517Cys)	single nucleotide variant	Inborn genetic diseases [RCV004954504]	Chr19:49135807 [GRCh38] Chr19:49639064 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.280G>A (p.Glu94Lys)	single nucleotide variant	Inborn genetic diseases [RCV004954505]	Chr19:49128406 [GRCh38] Chr19:49631663 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2056C>T (p.Arg686Cys)	single nucleotide variant	Inborn genetic diseases [RCV004954506]	Chr19:49138407 [GRCh38] Chr19:49641664 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3476C>T (p.Ala1159Val)	single nucleotide variant	Inborn genetic diseases [RCV004954507]	Chr19:49149668 [GRCh38] Chr19:49652925 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2332C>T (p.Arg778Ter)	single nucleotide variant	not provided [RCV005001643]	Chr19:49140052 [GRCh38] Chr19:49643309 [GRCh37] Chr19:19q13.33	pathogenic
NM_003660.4(PPFIA3):c.1198C>T (p.Arg400Trp)	single nucleotide variant	not provided [RCV005004023]	Chr19:49133832 [GRCh38] Chr19:49637089 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2958C>G (p.His986Gln)	single nucleotide variant	not provided [RCV005063635]	Chr19:49148205 [GRCh38] Chr19:49651462 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.527T>C (p.Met176Thr)	single nucleotide variant	not provided [RCV005227550]	Chr19:49129399 [GRCh38] Chr19:49632656 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1520G>A (p.Arg507Lys)	single nucleotide variant	not provided [RCV005054784]	Chr19:49134915 [GRCh38] Chr19:49638172 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.34G>C (p.Asp12His)	single nucleotide variant	not provided [RCV005227459]	Chr19:49127907 [GRCh38] Chr19:49631164 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3195C>A (p.Ser1065Arg)	single nucleotide variant	not provided [RCV005227471]	Chr19:49149078 [GRCh38] Chr19:49652335 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3032T>A (p.Ile1011Asn)	single nucleotide variant	not provided [RCV005054938]	Chr19:49148686 [GRCh38] Chr19:49651943 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2374del (p.Thr792fs)	deletion	not provided [RCV005227303]	Chr19:49141424 [GRCh38] Chr19:49644681 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.1712C>T (p.Pro571Leu)	single nucleotide variant	not provided [RCV005227458]	Chr19:49136770 [GRCh38] Chr19:49640027 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1441-9G>A	single nucleotide variant	not provided [RCV005227543]	Chr19:49134827 [GRCh38] Chr19:49638084 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3197G>A (p.Gly1066Glu)	single nucleotide variant	not provided [RCV005250714]	Chr19:49149080 [GRCh38] Chr19:49652337 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2786C>T (p.Ser929Phe)	single nucleotide variant	not provided [RCV005234126]	Chr19:49145983 [GRCh38] Chr19:49649240 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2240+7A>C	single nucleotide variant	not provided [RCV005245036]	Chr19:49139838 [GRCh38] Chr19:49643095 [GRCh37] Chr19:19q13.33	likely benign
NM_003660.4(PPFIA3):c.2099C>T (p.Ala700Val)	single nucleotide variant	not provided [RCV005130675]	Chr19:49139690 [GRCh38] Chr19:49642947 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1025A>G (p.Gln342Arg)	single nucleotide variant	not provided [RCV004823775]	Chr19:49133146 [GRCh38] Chr19:49636403 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3	copy number gain	not provided [RCV001249236]	Chr19:49640430..49703884 [GRCh37] Chr19:19q13.33	not provided
NM_003660.4(PPFIA3):c.700C>T (p.Arg234Cys)	single nucleotide variant	Inborn genetic diseases [RCV002807977]	Chr19:49130420 [GRCh38] Chr19:49633677 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.327A>T (p.Glu109Asp)	single nucleotide variant	Inborn genetic diseases [RCV003217047]	Chr19:49128453 [GRCh38] Chr19:49631710 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.309T>G (p.Ile103Met)	single nucleotide variant	Inborn genetic diseases [RCV003185595]	Chr19:49128435 [GRCh38] Chr19:49631692 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2609T>A (p.Ile870Asn)	single nucleotide variant	not provided [RCV003334375]	Chr19:49142868 [GRCh38] Chr19:49646125 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.2377C>A (p.Pro793Thr)	single nucleotide variant	PPFIA3-related disorder [RCV003991564]	Chr19:49141428 [GRCh38] Chr19:49644685 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.2276A>G (p.Lys759Arg)	single nucleotide variant	PPFIA3-related disorder [RCV003991565]	Chr19:49139996 [GRCh38] Chr19:49643253 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.118G>A (p.Glu40Lys)	single nucleotide variant	PPFIA3-related disorder [RCV003991560]	Chr19:49127991 [GRCh38] Chr19:49631248 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_003660.4(PPFIA3):c.586_587del (p.Leu196fs)	microsatellite	PPFIA3-associated neurodevelopmental disorder [RCV003885429]	Chr19:49129994..49129995 [GRCh38] Chr19:49633251..49633252 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_003660.4(PPFIA3):c.2143C>G (p.Pro715Ala)	single nucleotide variant	Inborn genetic diseases [RCV004506952]	Chr19:49139734 [GRCh38] Chr19:49642991 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2209T>G (p.Ser737Ala)	single nucleotide variant	Inborn genetic diseases [RCV004506953]	Chr19:49139800 [GRCh38] Chr19:49643057 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2495G>A (p.Gly832Asp)	single nucleotide variant	Inborn genetic diseases [RCV004506954]	Chr19:49142066 [GRCh38] Chr19:49645323 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.2515G>A (p.Asp839Asn)	single nucleotide variant	Inborn genetic diseases [RCV004506955]	Chr19:49142086 [GRCh38] Chr19:49645343 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1157A>G (p.Asn386Ser)	single nucleotide variant	Inborn genetic diseases [RCV004506950]	Chr19:49133367 [GRCh38] Chr19:49636624 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1209G>C (p.Glu403Asp)	single nucleotide variant	Inborn genetic diseases [RCV004506951]	Chr19:49133843 [GRCh38] Chr19:49637100 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.964C>G (p.Leu322Val)	single nucleotide variant	Inborn genetic diseases [RCV004506959]	Chr19:49133085 [GRCh38] Chr19:49636342 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.3228G>C (p.Glu1076Asp)	single nucleotide variant	Inborn genetic diseases [RCV004506956]	Chr19:49149111 [GRCh38] Chr19:49652368 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.381C>G (p.His127Gln)	single nucleotide variant	Inborn genetic diseases [RCV004506957]	Chr19:49128886 [GRCh38] Chr19:49632143 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.645T>G (p.Asp215Glu)	single nucleotide variant	Inborn genetic diseases [RCV004506958]	Chr19:49130055 [GRCh38] Chr19:49633312 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.887C>T (p.Ala296Val)	single nucleotide variant	not provided [RCV004725735]	Chr19:49133008 [GRCh38] Chr19:49636265 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.1262A>C (p.Lys421Thr)	single nucleotide variant	Inborn genetic diseases [RCV004954501]	Chr19:49134050 [GRCh38] Chr19:49637307 [GRCh37] Chr19:19q13.33	uncertain significance
NM_003660.4(PPFIA3):c.343C>T (p.Leu115=)	single nucleotide variant	Inborn genetic diseases [RCV004954500]	Chr19:49128848 [GRCh38] Chr19:49632105 [GRCh37] Chr19:19q13.33	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	4711
Count of miRNA genes:	1054
Interacting mature miRNAs:	1325
Transcripts:	ENST00000334186, ENST00000421230, ENST00000602351, ENST00000602492, ENST00000602509, ENST00000602655, ENST00000602716, ENST00000602726, ENST00000602783, ENST00000602800, ENST00000602848, ENST00000602897, ENST00000602905
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
596965108	GWAS1084627_H	alkaline phosphatase measurement, diet measurement QTL GWAS1084627 (human)		0.0000009	alkaline phosphatase measurement, diet measurement		19	49121707	49121708	Human
597415355	GWAS1511429_H	urate measurement QTL GWAS1511429 (human)		1e-30	urate measurement	blood uric acid level (CMO:0000501)	19	49131314	49131315	Human
597201720	GWAS1297794_H	memory performance QTL GWAS1297794 (human)		0.000006	memory performance		19	49135199	49135200	Human
597144630	GWAS1240704_H	body mass index QTL GWAS1240704 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	19	49142749	49142750	Human
597037714	GWAS1133788_H	body mass index QTL GWAS1133788 (human)		1e-10	body mass index	body mass index (BMI) (CMO:0000105)	19	49142749	49142750	Human
597155313	GWAS1251387_H	alkaline phosphatase measurement, diet measurement QTL GWAS1251387 (human)		0.0000009	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	19	49121707	49121708	Human
597326716	GWAS1422790_H	body mass index QTL GWAS1422790 (human)		7e-10	body mass index	body mass index (BMI) (CMO:0000105)	19	49142749	49142750	Human
596965907	GWAS1085426_H	alkaline phosphatase measurement, diet measurement QTL GWAS1085426 (human)		0.000002	alkaline phosphatase measurement, diet measurement		19	49121707	49121708	Human
597266270	GWAS1362344_H	schizophrenia QTL GWAS1362344 (human)		0.000004	schizophrenia		19	49147062	49147063	Human
597289555	GWAS1385629_H	body weight QTL GWAS1385629 (human)		2e-09	body mass (VT:0001259)	body weight (CMO:0000012)	19	49148871	49148872	Human
597436471	GWAS1532545_H	body mass index QTL GWAS1532545 (human)		1e-09	body mass index	body mass index (BMI) (CMO:0000105)	19	49145794	49145795	Human
597083258	GWAS1179332_H	body mass index QTL GWAS1179332 (human)		2e-10	body mass index	body mass index (BMI) (CMO:0000105)	19	49143219	49143220	Human
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
596989318	GWAS1108837_H	body mass index QTL GWAS1108837 (human)		1e-09	body mass index		19	49145794	49145795	Human
596984385	GWAS1103904_H	memory performance QTL GWAS1103904 (human)		0.000006	memory performance		19	49135199	49135200	Human
597036643	GWAS1132717_H	body mass index QTL GWAS1132717 (human)		3e-09	body mass index	body mass index (BMI) (CMO:0000105)	19	49143219	49143220	Human
597155022	GWAS1251096_H	alkaline phosphatase measurement, diet measurement QTL GWAS1251096 (human)		0.000002	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	19	49121707	49121708	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

D1S2695

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	110,696,107 - 110,696,211	UniSTS	GRCh37
Build 36	1	110,497,630 - 110,497,734	RGD	NCBI36
Celera	1	108,943,282 - 108,943,386	RGD
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
HuRef	19	46,000,765 - 46,001,831	UniSTS
HuRef	1	108,567,800 - 108,567,924	UniSTS
Marshfield Genetic Map	1	143.31	UniSTS
Marshfield Genetic Map	1	143.31	RGD
Genethon Genetic Map	1	147.9	UniSTS
deCODE Assembly Map	1	130.9	UniSTS

GDB:182000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	49,650,922 - 49,651,035	UniSTS	GRCh37
Build 36	19	54,342,734 - 54,342,847	RGD	NCBI36
Celera	19	46,518,144 - 46,518,259	RGD
Cytogenetic Map	19	q13.33	UniSTS
HuRef	19	46,027,160 - 46,027,269	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	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2788	2245	4969	1725	2347	4	622	1939	464	2268	7278	6446	50	3734	850	1736	1613	173	1


RefSeq Transcripts	NM_003660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_103842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB014554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC096864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF034800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI346749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU632015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX111585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA236900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ000070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000334186 ⟹ ENSP00000335614

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,119,544 - 49,151,026 (+)	Ensembl

Ensembl Acc Id:

ENST00000421230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,128,327 - 49,142,918 (+)	Ensembl

Ensembl Acc Id:

ENST00000602351 ⟹ ENSP00000473622

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,127,874 - 49,151,026 (+)	Ensembl

Ensembl Acc Id:

ENST00000602492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,128,020 - 49,130,428 (+)	Ensembl

Ensembl Acc Id:

ENST00000602509 ⟹ ENSP00000473621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,125,351 - 49,128,945 (+)	Ensembl

Ensembl Acc Id:

ENST00000602655 ⟹ ENSP00000473470

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,119,664 - 49,150,279 (+)	Ensembl

Ensembl Acc Id:

ENST00000602716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,128,289 - 49,137,240 (+)	Ensembl

Ensembl Acc Id:

ENST00000602726

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,128,580 - 49,130,599 (+)	Ensembl

Ensembl Acc Id:

ENST00000602783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,149,958 - 49,151,021 (+)	Ensembl

Ensembl Acc Id:

ENST00000602800

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,145,687 - 49,146,408 (+)	Ensembl

Ensembl Acc Id:

ENST00000602848 ⟹ ENSP00000473418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,142,984 - 49,151,026 (+)	Ensembl

Ensembl Acc Id:

ENST00000602897 ⟹ ENSP00000473423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,148,101 - 49,151,021 (+)	Ensembl

Ensembl Acc Id:

ENST00000602905

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	49,148,573 - 49,150,354 (+)	Ensembl

RefSeq Acc Id:

NM_003660 ⟹ NP_003651

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI
GRCh37	19	49,622,646 - 49,654,287 (+)	NCBI
Build 36	19	54,314,475 - 54,346,095 (+)	NCBI Archive
Celera	19	46,489,883 - 46,521,507 (+)	RGD
HuRef	19	45,998,810 - 46,030,520 (+)	NCBI
CHM1_1	19	49,624,758 - 49,656,397 (+)	NCBI
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

Sequence:

show sequence

AGCGCCCAAGCCGGAGCCAGAGACGCGGAGCCCGCGCGAGCGTCGGAGACAGGGCTCCAGGGCTCCGAAGCGACAGAGCCGGGCCCCGGCCGCTGCCAGGGGCCCCGCCCGGCCCCCCCACTCCACCC
CACGTCCCTCCTGCAGCCCAGCTCCGCCCGCAGCCGCCGCGGACCAGGCAGGCCCGCACCGCCGCCATGATGTGCGAGGTGATGCCCACCATCAGCGAGGATGGCCGGCGGGGCTCGGCGCTGGGCCC
GGACGAGGCGGGCGGGGAGCTGGAGCGCCTCATGGTCACGATGCTCACGGAGCGCGAGCGCCTGCTGGAGACGCTGCGCGAGGCACAGGACGGGTTGGCTACAGCGCAGCTGCGGCTGCGCGAGCTCG
GCCACGAGAAGGACTCGCTGCAGCGCCAGCTCAGCATCGCGCTGCCCCAGGAGTTTGCAGCTCTGACGAAGGAGCTGAACTTATGTCGGGAGCAGCTGCTGGAGAGGGAGGAAGAGATTGCAGAGCTG
AAGGCGGAACGGAACAACACGCGGCTGCTCCTGGAACACCTGGAGTGCCTGGTGTCCAGGCACGAGAGGTCACTGCGCATGACCGTGGTGAAGCGCCAGGCCCAGTCCCCGGGTGGGGTCTCCTCGGA
GGTAGAAGTGCTCAAAGCTCTAAAGTCTCTCTTCGAGCACCACAAGGCCCTGGATGAGAAGGTCCGGGAGCGGCTGCGGATGGCGCTGGAGCGCGTGGCAGTGCTCGAGGAGGAGCTGGAACTGAGCA
ATCAGGAGACTCTGAACCTTCGAGAACAGCTGTCTAGGCGGCGGTCAGGGCTGGAAGAGCCGGGCAAGGATGGGGATGGGCAGACTCTTGCCAATGGCCTGGGTCCTGGCGGGGATTCCAACCGGCGC
ACAGCAGAGCTGGAGGAGGCCCTGGAGCGGCAGCGCGCCGAGGTGTGCCAGCTGCGGGAGCGCCTGGCGGTGCTGTGCCGTCAGATGAGCCAGCTGGAGGAGGAGTTGGGCACCGCGCACCGTGAGCT
GGGCAAGGCAGAGGAAGCCAACTCCAAGCTGCAGCGCGACCTCAAGGAGGCGCTGGCGCAGCGGGAAGATATGGAGGAGCGGATTACAACACTGGAGAAGCGCTACCTGAGCGCCCAGCGGGAGGCCA
CGTCTCTGCACGACGCCAACGACAAACTGGAGAACGAGTTAGCTAGCAAGGAGTCGTTGTATCGGCAGAGTGAAGAGAAGAGCCGTCAGCTGGCCGAGTGGTTGGACGACGCCAAGCAGAAGCTGCAG
CAGACGCTGCAGAAAGCGGAGACCTTGCCCGAGATAGAGGCGCAGCTGGCGCAGCGCGTGGCGGCGCTCAACAAGGCCGAGGAACGTCATGGGAATTTTGAGGAGCGGCTTCGGCAGCTGGAGGCCCA
GCTGGAAGAGAAGAATCAAGAGCTGCAGCGGGCCCGGCAGCGGGAGAAGATGAACGATGACCACAATAAGCGGCTGTCCGAGACGGTGGACAAGCTGCTGAGCGAGTCCAACGAGCGCTTACAGCTTC
ACCTCAAGGAGCGCATGGGGGCGCTGGAGGAGAAGAACTCCCTGAGCGAGGAGATAGCCAACATGAAGAAGCTTCAGGATGAGTTGCTGCTAAACAAGGAGCAGCTCTTGGCCGAAATGGAGCGGATG
CAGATGGAGATCGACCAGCTGCGGGGGAGGCCACCATCCTCCTACTCCAGGTCTCTCCCTGGCAGTGCCCTGGAGCTCCGTTACTCTCAGGCACCCACTTTACCTTCTGGTGCCCACCTGGATCCCTA
TGTGGCTGGCAGTGGTCGGGCAGGCAAGAGGGGCCGCTGGTCAGGGGTCAAGGAGGAGCCCTCCAAGGATTGGGAGCGGTCTGCCCCTGCGGGCTCCATACCACCCCCATTCCCTGGGGAACTGGACG
GCTCCGATGAGGAGGAGGCAGAGGGGATGTTTGGGGCCGAGCTGCTGTCCCCCAGTGGGCAGGCTGACGTGCAGACGCTGGCCATCATGCTTCAGGAGCAGCTGGAGGCCATCAACAAGGAGATCAAG
CTGATCCAAGAGGAGAAGGAGACAACAGAACAGAGGGCAGAGGAGCTGGAGAGTCGGGTGTCCAGCTCTGGCTTGGACTCGTTGGGCCGCTACCGCAGCAGCTGCTCCCTGCCCCCCTCCCTCACCAC
CTCTACCCTTGCCAGCCCCTCCCCTCCCAGCTCTGGCCACTCAACACCCCGCCTGGCACCCCCTAGCCCTGCCCGTGAGGGCACCGACAAGGCTAATCATGTCCCTAAGGAGGAAGCTGGAGCTCCAC
GAGGGGAGGGGCCGGCCATCCCAGGAGACACCCCACCACCCACTCCCCGCTCTGCCCGTCTTGAGAGAATGACCCAGGCCTTGGCACTGCAGGCGGGGTCCCTGGAAGATGGGGGACCCCCACGGGGA
AGTGAGGGCACCCCAGATTCTCTGCACAAAGCCCCCAAGAAGAAGAGCATCAAGTCATCCATAGGCCGTCTCTTTGGCAAGAAAGAGAAGGGACGAATGGGACCCCCAGGCCGGGACAGCTCTTCTCT
GGCTGGAACACCCTCAGATGAGACACTGGCCACTGACCCTCTGGGGCTAGCCAAGCTGACAGGCCCAGGAGACAAGGACCGAAGGAACAAGAGGAAGCATGAACTCCTGGAGGAGGCCTGCCGCCAGG
GCCTACCTTTTGCTGCCTGGGACGGGCCCACCGTGGTGTCCTGGCTGGAGCTGTGGGTGGGCATGCCTGCCTGGTATGTGGCCGCCTGCCGGGCCAATGTCAAGAGCGGTGCCATCATGGCCAACCTG
TCAGACACGGAGATCCAGCGCGAGATCGGCATCAGCAACCCGCTGCACCGACTCAAGCTACGCCTCGCCATCCAGGAGATGGTCTCGCTCACCTCGCCCTCAGCCCCCGCCTCCTCCCGCACTTCCAC
AGGAAACGTGTGGATGACACACGAGGAGATGGAGTCCCTTACGGCCACGACCAAGCCCGAGACCAAGGAGATCAGCTGGGAGCAGATCCTGGCATATGGCGACATGAACCACGAGTGGGTGGGGAACG
ACTGGCTGCCCAGCCTGGGGCTGCCCCAATACCGCAGCTACTTCATGGAGTCGCTGGTGGACGCTCGAATGTTAGATCACCTTAACAAGAAGGAGCTCCGGGGCCAACTCAAGATGGTGGACAGCTTT
CACAGGGTGAGTCTACATTATGGGATTATGTGCCTGAAACGGCTCAACTATGACCGGAAGGACCTGGAGCGGAGGCGGGAAGAAAGTCAGACCCAGATCCGAGACGTGATGGTGTGGTCCAATGAGCG
GGTCATGGGTTGGGTGTCCGGGCTGGGCCTGAAGGAATTTGCCACGAACCTCACGGAGAGCGGGGTACACGGGGCACTGCTCGCCCTGGACGAGACCTTCGACTACTCCGACCTGGCCTTGCTCCTGC
AGATCCCCACGCAGAATGCACAGGCCCGGCAGCTTCTGGAGAAGGAATTCAGCAACCTTATCTCCTTAGGCACAGACAGGCGGCTGGACGAGGACAGCGCCAAGTCTTTCAGCCGCTCCCCATCCTGG
CGGAAGATGTTCCGGGAGAAGGACCTCCGAGGCGTAACTCCCGACTCAGCTGAGATGTTGCCCCCCAACTTTCGTTCGGCTGCAGCGGGAGCCCTGGGCTCTCCGGGGCTCCCTCTCCGCAAGCTGCA
GCCAGAAGGCCAGACTTCTGGGAGTTCCCGGGCAGACGGCGTTTCGGTCCGGACCTATTCCTGCTAGTGCAGGCCTCCAGGTGACCTCACTCGGACGGAAGAATCTTCCCGAGGCTGGGCTGTTCCCT
CTCCTGCCCGGACTGTGGCCTCGCCGGGGAGAGCGGGCGGGGGAGCTCGCGCCGAGGACTGGACCATCTGTACAGACCAGCGGGAGTGCGCGCGCCCGCCTCGCACAGGGCCGGGGCCTGGACCAAAC
CACATGAACTGGACTGAGAGGGGGAAGAAGCGGGGAGGAAGAAATCCCGCCCCAAACGTCCGCTTTCCTTTTCTCTACTTTGTAATTTATTGATCAGTTTCTGTTGGGAGACGGGTGTCCTTTACCCG
CGGGAAGGGGGCGGGGCTTCCCTCCCGGGCCGCATGCGGGGAGAGGCTGCTCCCTCCCCTTTTTCCTGCCCAGTCGCGGGGCCCAAGTCTTCCTTCTTCGTCCGAAAGGAGGGGAGGGGGGACTCGCT
GCTACAAGCCTCGCCCCCTGTGCCACTCAGCTCCGCCCCGCCGCGTCCGGTCGCCGGTCCCCCGGGTCATCTGCGGGCGGGTTCCCCTCTCCCTCCCCCGTGTCTCGTGTCCCCGGGGCCTCACCGCC
CCCCGTGCTGTGGCCGTGTCCGTGCCCCGGGGGTAGGGGGCGCAGAATGGCGCTTCCCCTTCTCCTCTGGCTCCGGGGTTTGCATGGGAGAATCCTCTTTCCACGATGCCGCTGGGCGACGTGGCGTG
GGGGCAGGGGGACGGTGGGGGAGCCCTCGCCCCCGACTCTCGGTCGGCCTCCCCGCCCCAGGCGTCACTCAGTGATCACGGGTAAAGAGAACTGTTTCAAAAA

hide sequence

RefSeq Acc Id:

NR_103842

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI
GRCh37	19	49,622,646 - 49,654,287 (+)	NCBI
HuRef	19	45,998,810 - 46,030,520 (+)	NCBI
CHM1_1	19	49,624,758 - 49,656,397 (+)	NCBI
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

Sequence:

show sequence

AGCGCCCAAGCCGGAGCCAGAGACGCGGAGCCCGCGCGAGCGTCGGAGACAGGGCTCCAGGGCTCCGAAGCGACAGAGCCGGGCCCCGGCCGCTGCCAGGGGCCCCGCCCGGCCCCCCCACTCCACCC
CACGTCCCTCCTGCAGCCCAGCTCCGCCCGCAGCCGCCGCGGACCAGGCAGGCCCGCACCGCCGCCATGATGTGCGAGGTGATGCCCACCATCAGCGAGGATGGCCGGCGGGGCTCGGCGCTGGGCCC
GGACGAGGCGGGCGGGGAGCTGGAGCGCCTCATGGTCACGATGCTCACGGAGCGCGAGCGCCTGCTGGAGACGCTGCGCGAGGCACAGGACGGGTTGGCTACAGCGCAGCTGCGGCTGCGCGAGCTCG
GCCACGAGAAGGACTCGCTGCAGCGCCAGCTCAGCATCGCGCTGCCCCAGGAGTTTGCAGCTCTGACGAAGGAGCTGAACTTATGTCGGGAGCAGCTGCTGGAGAGGGAGGAAGAGATTGCAGAGCTG
AAGGCGGAACGGAACAACACGCGGCTGCTCCTGGAACACCTGGAGTGCCTGGTGTCCAGGCACGAGAGGTCACTGCGCATGACCGTGGTGAAGCGCCAGGCCCAGTCCCCGGGTGGGGTCTCCTCGGA
GGTAGAAGTGCTCAAAGCTCTAAAGTCTCTCTTCGAGCACCACAAGGCCCTGGATGAGAAGGTCCGGGAGCGGCTGCGGATGGCGCTGGAGCGCGTGGCAGTGCTCGAGGAGGAGCTGGAACTGAGCA
ATCAGGAGACTCTGAACCTTCGAGAACAGCTGTCTAGGCGGCGGTCAGGGCTGGAAGAGCCGGGCAAGGATGGGGATGGGCAGACTCTTGCCAATGGCCTGGGTCCTGGCGGGGATTCCAACCGGCGC
ACAGCAGAGCTGGAGGAGGCCCTGGAGCGGCAGCGCGCCGAGGTGTGCCAGCTGCGGGAGCGCCTGGCGGTGCTGTGCCGTCAGATGAGCCAGCTGGAGGAGGAGTTGGGCACCGCGCACCGTGAGCT
GGGCAAGGCAGAGGAAGCCAACTCCAAGCTGCAGCGCGACCTCAAGGAGGCGCTGGCGCAGCGGGAAGATATGGAGGAGCGGATTACAACACTGGAGAAGCGCTACCTGAGCGCCCAGCGGGAGGCCA
CGTCTCTGCACGACGCCAACGACAAACTGGAGAACGAGTTAGCTAGCAAGGAGTCGTTGTATCGGCAGAGTGAAGAGAAGAGCCGTCAGCTGGCCGAGTGGTTGGACGACGCCAAGCAGAAGCTGCAG
CAGACGCTGCAGAAAGCGGAGACCTTGCCCGAGATAGAGGCGCAGCTGGCGCAGCGCGTGGCGGCGCTCAACAAGGCCGAGGAACGTCATGGGAATTTTGAGGAGCGGCTTCGGCAGCTGGAGGCCCA
GCTGGAAGAGAAGAATCAAGAGCTGCAGCGGGCCCGGCAGCGGGAGAAGATGAACGATGACCACAATAAGCGGCTGTCCGAGACGGTGGACAAGCTGCTGAGCGAGTCCAACGAGCGCTTACAGCTTC
ACCTCAAGGAGCGCATGGGGGCGCTGGAGGAGAAGAACTCCCTGAGCGAGGAGATAGCCAACATGAAGAAGCTTCAGGATGAGTTGCTGCTAAACAAGGAGCAGCTCTTGGCCGAAATGGAGCGGATG
CAGATGGAGATCGACCAGCTGCGGGGGAGGCCACCATCCTCCTACTCCAGGTCTCTCCCTGGCAGTGCCCTGGAGCTCCGTTACTCTCAGGCACCCACTTTACCTTCTGGTGCCCACCTGGATCCCTA
TGTGGCTGGCAGTGGTCGGGCAGGCAAGAGGGGCCGCTGGTCAGGGGTCAAGGAGGAGCCCTCCAAGGATTGGGAGCGGTCTGCCCCTGCGGGCTCCATACCACCCCCATTCCCTGGGGAACTGGACG
GCTCCGATGAGGAGGAGGCAGAGGGGATGTTTGGGGCCGAGCTGCTGTCCCCCAGTGGGCAGGCTGACGTGCAGACGCTGGCCATCATGCTTCAGGAGCAGCTGGAGGCCATCAACAAGGAGATCAAA
ATCATGTCCCTAAGGAGGAAGCTGGAGCTCCACGAGGGGAGGGGCCGGCCATCCCAGGAGACACCCCACCACCCACTCCCCGCTCTGCCCGTCTTGAGAGAATGACCCAGGCCTTGGCACTGCAGGCG
GGGTCCCTGGAAGATGGGGGACCCCCACGGGGAAGTGAGGGCACCCCAGATTCTCTGCACAAAGCCCCCAAGAAGAAGAGCATCAAGTCATCCATAGGCCGTCTCTTTGGCAAGAAAGAGAAGGGACG
AATGGGACCCCCAGGCCGGGACAGCTCTTCTCTGGCTGGAACACCCTCAGATGAGACACTGGCCACTGACCCTCTGGGGCTAGCCAAGCTGACAGGCCCAGGAGACAAGGACCGAAGGAACAAGAGGA
AGCATGAACTCCTGGAGGAGGCCTGCCGCCAGGGCCTACCTTTTGCTGCCTGGGACGGGCCCACCGTGGTGTCCTGGCTGGAGCTGTGGGTGGGCATGCCTGCCTGGTATGTGGCCGCCTGCCGGGCC
AATGTCAAGAGCGGTGCCATCATGGCCAACCTGTCAGACACGGAGATCCAGCGCGAGATCGGCATCAGCAACCCGCTGCACCGACTCAAGCTACGCCTCGCCATCCAGGAGATGGTCTCGCTCACCTC
GCCCTCAGCCCCCGCCTCCTCCCGCACTTCCACAGGAAACGTGTGGATGACACACGAGGAGATGGAGTCCCTTACGGCCACGACCAAGCCCGAGACCAAGGAGATCAGCTGGGAGCAGATCCTGGCAT
ATGGCGACATGAACCACGAGTGGGTGGGGAACGACTGGCTGCCCAGCCTGGGGCTGCCCCAATACCGCAGCTACTTCATGGAGTCGCTGGTGGACGCTCGAATGTTAGATCACCTTAACAAGAAGGAG
CTCCGGGGCCAACTCAAGATGGTGGACAGCTTTCACAGGGTGAGTCTACATTATGGGATTATGTGCCTGAAACGGCTCAACTATGACCGGAAGGACCTGGAGCGGAGGCGGGAAGAAAGTCAGACCCA
GATCCGAGACGTGATGGTGTGGTCCAATGAGCGGGTCATGGGTTGGGTGTCCGGGCTGGGCCTGAAGGAATTTGCCACGAACCTCACGGAGAGCGGGGTACACGGGGCACTGCTCGCCCTGGACGAGA
CCTTCGACTACTCCGACCTGGCCTTGCTCCTGCAGATCCCCACGCAGAATGCACAGGCCCGGCAGCTTCTGGAGAAGGAATTCAGCAACCTTATCTCCTTAGGCACAGACAGGCGGCTGGACGAGGAC
AGCGCCAAGTCTTTCAGCCGCTCCCCATCCTGGCGGAAGATGTTCCGGGAGAAGGACCTCCGAGGCGTAACTCCCGACTCAGCTGAGATGTTGCCCCCCAACTTTCGTTCGGCTGCAGCGGGAGCCCT
GGGCTCTCCGGGGCTCCCTCTCCGCAAGCTGCAGCCAGAAGGCCAGACTTCTGGGAGTTCCCGGGCAGACGGCGTTTCGGTCCGGACCTATTCCTGCTAGTGCAGGCCTCCAGGTGACCTCACTCGGA
CGGAAGAATCTTCCCGAGGCTGGGCTGTTCCCTCTCCTGCCCGGACTGTGGCCTCGCCGGGGAGAGCGGGCGGGGGAGCTCGCGCCGAGGACTGGACCATCTGTACAGACCAGCGGGAGTGCGCGCGC
CCGCCTCGCACAGGGCCGGGGCCTGGACCAAACCACATGAACTGGACTGAGAGGGGGAAGAAGCGGGGAGGAAGAAATCCCGCCCCAAACGTCCGCTTTCCTTTTCTCTACTTTGTAATTTATTGATC
AGTTTCTGTTGGGAGACGGGTGTCCTTTACCCGCGGGAAGGGGGCGGGGCTTCCCTCCCGGGCCGCATGCGGGGAGAGGCTGCTCCCTCCCCTTTTTCCTGCCCAGTCGCGGGGCCCAAGTCTTCCTT
CTTCGTCCGAAAGGAGGGGAGGGGGGACTCGCTGCTACAAGCCTCGCCCCCTGTGCCACTCAGCTCCGCCCCGCCGCGTCCGGTCGCCGGTCCCCCGGGTCATCTGCGGGCGGGTTCCCCTCTCCCTC
CCCCGTGTCTCGTGTCCCCGGGGCCTCACCGCCCCCCGTGCTGTGGCCGTGTCCGTGCCCCGGGGGTAGGGGGCGCAGAATGGCGCTTCCCCTTCTCCTCTGGCTCCGGGGTTTGCATGGGAGAATCC
TCTTTCCACGATGCCGCTGGGCGACGTGGCGTGGGGGCAGGGGGACGGTGGGGGAGCCCTCGCCCCCGACTCTCGGTCGGCCTCCCCGCCCCAGGCGTCACTCAGTGATCACGGGTAAAGAGAACTGT
TTCAAAAA

hide sequence

RefSeq Acc Id:

XM_017027407 ⟹ XP_016882896

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI

Sequence:

show sequence

ATTTTTTTGGGGGGAAGGTGGGATTTGGGGGGCGCTGGTGGGCACCCCTGGATCTGGCGGCTGC
GGCCTCGCGGGGGGAGGCTGATCGGTGACAGGGGCAGGGGGCTATTTTGGGGGTAGAAGGCAGTGAGAGCGTGAGGGGGAGGGGGGTCCCCAGCGCCCAAGCCGGAGCCAGAGACGCGGAGCCCGCGC
GAGCGTCGGAGACAGGGCTCCAGGGCTCCGAAGCGACAGAGCCGGGCCCCGGCCGCTGCCAGGGGCCCCGCCCGGCCCCCCCACTCCACCCCACGTCCCTCCTGCAGCCCAGCTCCGCCCGCAGCCGC
CGCGGACCAGGCAGGCCCGCACCGCCGCCATGATGTGCGAGGTGATGCCCACCATCAGCGAGGATGGCCGGCGGGGCTCGGCGCTGGGCCCGGACGAGGCGGGCGGGGAGCTGGAGCGCCTCATGGTC
ACGATGCTCACGGAGCGCGAGCGCCTGCTGGAGACGCTGCGCGAGGCACAGGACGGGTTGGCTACAGCGCAGCTGCGGCTGCGCGAGCTCGGCCACGAGAAGGACTCGCTGCAGCGCCAGCTCAGCAT
CGCGCTGCCCCAGGAGTTTGCAGCTCTGACGAAGGAGCTGAACTTATGTCGGGAGCAGCTGCTGGAGAGGGAGGAAGAGATTGCAGAGCTGAAGGCGGAACGGAACAACACGCGGCTGCTCCTGGAAC
ACCTGGAGTGCCTGGTGTCCAGGCACGAGAGGTCACTGCGCATGACCGTGGTGAAGCGCCAGGCCCAGTCCCCGGGTGGGGTCTCCTCGGAGGTAGAAGTGCTCAAAGCTCTAAAGTCTCTCTTCGAG
CACCACAAGGCCCTGGATGAGAAGGTCCGGGAGCGGCTGCGGATGGCGCTGGAGCGCGTGGCAGTGCTCGAGGAGGAGCTGGAACTGAGCAATCAGGAGACTCTGAACCTTCGAGAACAGCTGTCTAG
GCGGCGGTCAGGGCTGGAAGAGCCGGGCAAGGATGGGGATGGGCAGACTCTTGCCAATGGCCTGGGTCCTGGCGGGGATTCCAACCGGCGCACAGCAGAGCTGGAGGAGGCCCTGGAGCGGCAGCGCG
CCGAGGTGTGCCAGCTGCGGGAGCGCCTGGCGGTGCTGTGCCGTCAGATGAGCCAGCTGGAGGAGGAGTTGGGCACCGCGCACCGTGAGCTGGGCAAGGCAGAGGAAGCCAACTCCAAGCTGCAGCGC
GACCTCAAGGAGGCGCTGGCGCAGCGGGAAGATATGGAGGAGCGGATTACAACACTGGAGAAGCGCTACCTGAGCGCCCAGCGGGAGGCCACGTCTCTGCACGACGCCAACGACAAACTGGAGAACGA
GTTAGCTAGCAAGGAGTCGTTGTATCGGCAGAGTGAAGAGAAGAGCCGTCAGCTGGCCGAGTGGTTGGACGACGCCAAGCAGAAGCTGCAGCAGACGCTGCAGAAAGCGGAGACCTTGCCCGAGATAG
AGGCGCAGCTGGCGCAGCGCGTGGCGGCGCTCAACAAGGCCGAGGAACGTCATGGGAATTTTGAGGAGCGGCTTCGGCAGCTGGAGGCCCAGCTGGAAGAGAAGAATCAAGAGCTGCAGCGGGCCCGG
CAGCGGGAGAAGATGAACGATGACCACAATAAGCGGCTGTCCGAGACGGTGGACAAGCTGCTGAGCGAGTCCAACGAGCGCTTACAGCTTCACCTCAAGGAGCGCATGGGGGCGCTGGAGGAGAAGAA
CTCCCTGAGCGAGGAGATAGCCAACATGAAGAAGCTTCAGGATGAGTTGCTGCTAAACAAGGAGCAGCTCTTGGCCGAAATGGAGCGGATGCAGATGGAGATCGACCAGCTGCGGGGGAGGCCACCAT
CCTCCTACTCCAGGTCTCTCCCTGGCAGTGCCCTGGAGCTCCGTTACTCTCAGGCACCCACTTTACCTTCTGGTGCCCACCTGGATCCCTATGTGGCTGGCAGTGGTCGGGCAGGCAAGAGGGGCCGC
TGGTCAGGGGTCAAGGAGGAGCCCTCCAAGGATTGGGAGCGGTCTGCCCCTGCGGGCTCCATACCACCCCCATTCCCTGGGGAACTGGACGGCTCCGATGAGGAGGAGGCAGAGGGGATGTTTGGGGC
CGAGCTGCTGTCCCCCAGTGGGCAGGCTGACGTGCAGACGCTGGCCATCATGCTTCAGGAGCAGCTGGAGGCCATCAACAAGGAGATCAAGCTGATCCAAGAGGAGAAGGAGACAACAGAACAGAGGG
CAGAGGAGCTGGAGAGTCGGGTGTCCAGCTCTGGCTTGGACTCGTTGGGCCGCTACCGCAGCAGCTGCTCCCTGCCCCCCTCCCTCACCACCTCTACCCTTGCCAGCCCCTCCCCTCCCAGCTCTGGC
CACTCAACACCCCGCCTGGCACCCCCTAGCCCTGCCCGTGAGGGCACCGACAAGGCTAATCATGTCCCTAAGGAGGAAGCTGGAGCTCCACGAGGGGAGGGGCCGGCCATCCCAGGAGACACCCCACC
ACCCACTCCCCGCTCTGCCCGTCTTGAGAGAATGACCCAGGCCTTGGCACTGCAGGCGGGGTCCCTGGAAGATGGGGGACCCCCACGGGGAAGTGAGGGCACCCCAGATTCTCTGCACAAAGCCCCCA
AGAAGAAGAGCATCAAGTCATCCATAGGCCGTCTCTTTGGCAAGAAAGAGAAGGGACGAATGGGACCCCCAGGCCGGGACAGCTCTTCTCTGGCTGGAACACCCTCAGATGAGACACTGGCCACTGAC
CCTCTGGGGCTAGCCAAGCTGACAGGCCCAGGAGACAAGGACCGAAGGAACAAGAGGAAGCATGAACTCCTGGAGGAGGCCTGCCGCCAGGGCCTACCTTTTGCTGCCTGGGACGGGCCCACCGTGGT
GTCCTGGCTGGAGCTGTGGGTGGGCATGCCTGCCTGGTATGTGGCCGCCTGCCGGGCCAATGTCAAGAGCGGTGCCATCATGGCCAACCTGTCAGACACGGAGATCCAGCGCGAGATCGGCATCAGCA
ACCCGCTGCACCGACTCAAGCTACGCCTCGCCATCCAGGAGATGGTCTCGCTCACCTCGCCCTCAGCCCCCGCCTCCTCCCGCACTTCCACAGGAAACGTGTGGATGACACACGAGGAGATGGAGTCC
CTTACGGCCACGACCAAGCCCATCCTGGCATATGGCGACATGAACCACGAGTGGGTGGGGAACGACTGGCTGCCCAGCCTGGGGCTGCCCCAATACCGCAGCTACTTCATGGAGTCGCTGGTGGACGC
TCGAATGTTAGATCACCTTAACAAGAAGGAGCTCCGGGGCCAACTCAAGATGGTGGACAGCTTTCACAGGGTGAGTCTACATTATGGGATTATGTGCCTGAAACGGCTCAACTATGACCGGAAGGACC
TGGAGCGGAGGCGGGAAGAAAGTCAGACCCAGATCCGAGACGTGATGGTGTGGTCCAATGAGCGGGTCATGGGTTGGGTGTCCGGGCTGGGCCTGAAGGAATTTGCCACGAACCTCACGGAGAGCGGG
GTACACGGGGCACTGCTCGCCCTGGACGAGACCTTCGACTACTCCGACCTGGCCTTGCTCCTGCAGATCCCCACGCAGAATGCACAGGCCCGGCAGCTTCTGGAGAAGGAATTCAGCAACCTTATCTC
CTTAGGCACAGACAGGCGGCTGGACGAGGACAGCGCCAAGTCTTTCAGCCGCTCCCCATCCTGGCGGAAGATGTTCCGGGAGAAGGACCTCCGAGGCGTAACTCCCGACTCAGCTGAGATGTTGCCCC
CCAACTTTCGTTCGGCTGCAGCGGGAGCCCTGGGCTCTCCGGGGCTCCCTCTCCGCAAGCTGCAGCCAGAAGGCCAGACTTCTGGGAGTTCCCGGGCAGACGGCGTTTCGGTCCGGACCTATTCCTGC
TAGTGCAGGCCTCCAGGTGACCTCACTCGGACGGAAGAATCTTCCCGAGGCTGGGCTGTTCCCTCTCCTGCCCGGACTGTGGCCTCGCCGGGGAGAGCGGGCGGGGGAGCTCGCGCCGAGGACTGGAC
CATCTGTACAGACCAGCGGGAGTGCGCGCGCCCGCCTCGCACAGGGCCGGGGCCTGGACCAAACCACATGAACTGGACTGAGAGGGGGAAGAAGCGGGGAGGAAGAAATCCCGCCCCAAACGTCCGCT
TTCCTTTTCTCTACTTTGTAATTTATTGATCAGTTTCTGTTGGGAGACGGGTGTCCTTTACCCGCGGGAAGGGGGCGGGGCTTCCCTCCCGGGCCGCATGCGGGGAGAGGCTGCTCCCTCCCCTTTTT
CCTGCCCAGTCGCGGGGCCCAAGTCTTCCTTCTTCGTCCGAAAGGAGGGGAGGGGGGACTCGCTGCTACAAGCCTCGCCCCCTGTGCCACTCAGCTCCGCCCCGCCGCGTCCGGTCGCCGGTCCCCCG
GGTCATCTGCGGGCGGGTTCCCCTCTCCCTCCCCCGTGTCTCGTGTCCCCGGGGCCTCACCGCCCCCCGTGCTGTGGCCGTGTCCGTGCCCCGGGGGTAGGGGGCGCAGAATGGCGCTTCCCCTTCTC
CTCTGGCTCCGGGGTTTGCATGGGAGAATCCTCTTTCCACGATGCCGCTGGGCGACGTGGCGTGGGGGCAGGGGGACGGTGGGGGAGCCCTCGCCCCCGACTCTCGGTCGGCCTCCCCGCCCCAGGCG
TCACTCAGTGATCACGGGTAAAGAGAACTGTTTCAAAAAGCTT

hide sequence

RefSeq Acc Id:

XM_047439582 ⟹ XP_047295538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI

RefSeq Acc Id:

XM_047439583 ⟹ XP_047295539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI

RefSeq Acc Id:

XM_054322460 ⟹ XP_054178435

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

RefSeq Acc Id:

XM_054322461 ⟹ XP_054178436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

RefSeq Acc Id:

XM_054322462 ⟹ XP_054178437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

RefSeq Acc Id:

XR_007067023

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI

RefSeq Acc Id:

XR_007067024

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,544 - 49,151,026 (+)	NCBI

RefSeq Acc Id:

XR_008485214

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI

RefSeq Acc Id:

XR_008485215

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	52,114,278 - 52,145,758 (+)	NCBI


Protein RefSeqs	NP_003651	(Get FASTA)	NCBI Sequence Viewer
	XP_016882896	(Get FASTA)	NCBI Sequence Viewer
	XP_047295538	(Get FASTA)	NCBI Sequence Viewer
	XP_047295539	(Get FASTA)	NCBI Sequence Viewer
	XP_054178435	(Get FASTA)	NCBI Sequence Viewer
	XP_054178436	(Get FASTA)	NCBI Sequence Viewer
	XP_054178437	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC26101	(Get FASTA)	NCBI Sequence Viewer
	AAH21255	(Get FASTA)	NCBI Sequence Viewer
	AAI01519	(Get FASTA)	NCBI Sequence Viewer
	AAI01521	(Get FASTA)	NCBI Sequence Viewer
	BAA31629	(Get FASTA)	NCBI Sequence Viewer
	BAB14702	(Get FASTA)	NCBI Sequence Viewer
	BAF82446	(Get FASTA)	NCBI Sequence Viewer
	BAG57209	(Get FASTA)	NCBI Sequence Viewer
	EAW52457	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000335614
	ENSP00000335614.3
	ENSP00000473622
	ENSP00000473622.1
GenBank Protein	O75145	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003651 ⟸ NM_003660

- UniProtKB:

Q9H8B5 (UniProtKB/Swiss-Prot), Q3MJA0 (UniProtKB/Swiss-Prot), A8K142 (UniProtKB/Swiss-Prot), Q9UEW4 (UniProtKB/Swiss-Prot), O75145 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MMCEVMPTISEDGRRGSALGPDEAGGELERLMVTMLTERERLLETLREAQDGLATAQLRLRELGHEKDSLQRQLSIALPQEFAALTKELNLCREQLLEREEEIAELKAERNNTRLLLEHLECLVSRHE
RSLRMTVVKRQAQSPGGVSSEVEVLKALKSLFEHHKALDEKVRERLRMALERVAVLEEELELSNQETLNLREQLSRRRSGLEEPGKDGDGQTLANGLGPGGDSNRRTAELEEALERQRAEVCQLRERL
AVLCRQMSQLEEELGTAHRELGKAEEANSKLQRDLKEALAQREDMEERITTLEKRYLSAQREATSLHDANDKLENELASKESLYRQSEEKSRQLAEWLDDAKQKLQQTLQKAETLPEIEAQLAQRVAA
LNKAEERHGNFEERLRQLEAQLEEKNQELQRARQREKMNDDHNKRLSETVDKLLSESNERLQLHLKERMGALEEKNSLSEEIANMKKLQDELLLNKEQLLAEMERMQMEIDQLRGRPPSSYSRSLPGS
ALELRYSQAPTLPSGAHLDPYVAGSGRAGKRGRWSGVKEEPSKDWERSAPAGSIPPPFPGELDGSDEEEAEGMFGAELLSPSGQADVQTLAIMLQEQLEAINKEIKLIQEEKETTEQRAEELESRVSS
SGLDSLGRYRSSCSLPPSLTTSTLASPSPPSSGHSTPRLAPPSPAREGTDKANHVPKEEAGAPRGEGPAIPGDTPPPTPRSARLERMTQALALQAGSLEDGGPPRGSEGTPDSLHKAPKKKSIKSSIG
RLFGKKEKGRMGPPGRDSSSLAGTPSDETLATDPLGLAKLTGPGDKDRRNKRKHELLEEACRQGLPFAAWDGPTVVSWLELWVGMPAWYVAACRANVKSGAIMANLSDTEIQREIGISNPLHRLKLRL
AIQEMVSLTSPSAPASSRTSTGNVWMTHEEMESLTATTKPETKEISWEQILAYGDMNHEWVGNDWLPSLGLPQYRSYFMESLVDARMLDHLNKKELRGQLKMVDSFHRVSLHYGIMCLKRLNYDRKDL
ERRREESQTQIRDVMVWSNERVMGWVSGLGLKEFATNLTESGVHGALLALDETFDYSDLALLLQIPTQNAQARQLLEKEFSNLISLGTDRRLDEDSAKSFSRSPSWRKMFREKDLRGVTPDSAEMLPP
NFRSAAAGALGSPGLPLRKLQPEGQTSGSSRADGVSVRTYSC

hide sequence

RefSeq Acc Id:	XP_016882896 ⟸ XM_017027407
- Peptide Label:	isoform X2
- UniProtKB:	O75145 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MMCEVMPTISEDGRRGSALGPDEAGGELERLMVTMLTERERLLETLREAQDGLATAQLRLRELG HEKDSLQRQLSIALPQEFAALTKELNLCREQLLEREEEIAELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPGGVSSEVEVLKALKSLFEHHKALDEKVRERLRMALERVAVLEEELELSN QETLNLREQLSRRRSGLEEPGKDGDGQTLANGLGPGGDSNRRTAELEEALERQRAEVCQLRERLAVLCRQMSQLEEELGTAHRELGKAEEANSKLQRDLKEALAQREDMEERITTLEKRYLSAQREAT SLHDANDKLENELASKESLYRQSEEKSRQLAEWLDDAKQKLQQTLQKAETLPEIEAQLAQRVAALNKAEERHGNFEERLRQLEAQLEEKNQELQRARQREKMNDDHNKRLSETVDKLLSESNERLQLH LKERMGALEEKNSLSEEIANMKKLQDELLLNKEQLLAEMERMQMEIDQLRGRPPSSYSRSLPGSALELRYSQAPTLPSGAHLDPYVAGSGRAGKRGRWSGVKEEPSKDWERSAPAGSIPPPFPGELDG SDEEEAEGMFGAELLSPSGQADVQTLAIMLQEQLEAINKEIKLIQEEKETTEQRAEELESRVSSSGLDSLGRYRSSCSLPPSLTTSTLASPSPPSSGHSTPRLAPPSPAREGTDKANHVPKEEAGAPR GEGPAIPGDTPPPTPRSARLERMTQALALQAGSLEDGGPPRGSEGTPDSLHKAPKKKSIKSSIGRLFGKKEKGRMGPPGRDSSSLAGTPSDETLATDPLGLAKLTGPGDKDRRNKRKHELLEEACRQG LPFAAWDGPTVVSWLELWVGMPAWYVAACRANVKSGAIMANLSDTEIQREIGISNPLHRLKLRLAIQEMVSLTSPSAPASSRTSTGNVWMTHEEMESLTATTKPILAYGDMNHEWVGNDWLPSLGLPQ YRSYFMESLVDARMLDHLNKKELRGQLKMVDSFHRVSLHYGIMCLKRLNYDRKDLERRREESQTQIRDVMVWSNERVMGWVSGLGLKEFATNLTESGVHGALLALDETFDYSDLALLLQIPTQNAQAR QLLEKEFSNLISLGTDRRLDEDSAKSFSRSPSWRKMFREKDLRGVTPDSAEMLPPNFRSAAAGALGSPGLPLRKLQPEGQTSGSSRADGVSVRTYSC hide sequence

Ensembl Acc Id:

ENSP00000335614 ⟸ ENST00000334186

Ensembl Acc Id:

ENSP00000473418 ⟸ ENST00000602848

Ensembl Acc Id:

ENSP00000473423 ⟸ ENST00000602897

Protein Domains

SAM

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75145-F1-model_v2	AlphaFold	O75145	1-1194	view protein structure

RGD ID:

13205079

Promoter ID:

EPDNEW_H26120

Type:

initiation region

Name:

PPFIA3_3

Description:

PTPRF interacting protein alpha 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26121 EPDNEW_H26122 EPDNEW_H26125 EPDNEW_H26123

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,033 - 49,119,093	EPDNEW

RGD ID:

13205081

Promoter ID:

EPDNEW_H26121

Type:

initiation region

Name:

PPFIA3_5

Description:

PTPRF interacting protein alpha 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26120 EPDNEW_H26122 EPDNEW_H26125 EPDNEW_H26123

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,325 - 49,119,385	EPDNEW

RGD ID:

13205083

Promoter ID:

EPDNEW_H26122

Type:

initiation region

Name:

PPFIA3_1

Description:

PTPRF interacting protein alpha 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26120 EPDNEW_H26121 EPDNEW_H26125 EPDNEW_H26123

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,119,697 - 49,119,757	EPDNEW

RGD ID:

13205087

Promoter ID:

EPDNEW_H26123

Type:

initiation region

Name:

PPFIA3_2

Description:

PTPRF interacting protein alpha 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26120 EPDNEW_H26121 EPDNEW_H26122 EPDNEW_H26125

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,128,251 - 49,128,311	EPDNEW

RGD ID:

13205085

Promoter ID:

EPDNEW_H26125

Type:

initiation region

Name:

PPFIA3_4

Description:

PTPRF interacting protein alpha 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26120 EPDNEW_H26121 EPDNEW_H26122 EPDNEW_H26123

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	49,150,025 - 49,150,085	EPDNEW

RGD ID:

6795924

Promoter ID:

HG_KWN:30518

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:

ENST00000334329, NM_003660

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	54,313,664 - 54,314,164 (+)	MPROMDB

RGD ID:

6795923

Promoter ID:

HG_KWN:30519

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

UC002PMS.2, UC010EMT.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	54,323,021 - 54,323,602 (+)	MPROMDB

RGD ID:

6795705

Promoter ID:

HG_KWN:30520

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC002PMT.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	54,337,789 - 54,338,289 (+)	MPROMDB

RGD ID:

6795704

Promoter ID:

HG_KWN:30521

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

UC002PMU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	54,343,231 - 54,343,731 (+)	MPROMDB

RGD ID:

6811717

Promoter ID:

HG_ACW:42226

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, HeLa_S3, K562, NB4

Transcripts:

PPFIA3.JAPR07-UNSPLICED, PPFIA3.LAPR07, PPFIA3.NAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	54,344,441 - 54,345,317 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	PPFIA3	COSMIC
Ensembl Genes	ENSG00000177380	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000334186	ENTREZGENE
	ENST00000334186.9	UniProtKB/Swiss-Prot
	ENST00000602351	ENTREZGENE
	ENST00000602351.5	UniProtKB/Swiss-Prot
	ENST00000602655	ENTREZGENE
Gene3D-CATH	1.10.150.50	UniProtKB/Swiss-Prot
	1.10.287.1490	UniProtKB/Swiss-Prot
GTEx	ENSG00000177380	GTEx
HGNC ID	HGNC:9247	ENTREZGENE
Human Proteome Map	PPFIA3	Human Proteome Map
InterPro	Liprin	UniProtKB/Swiss-Prot
	Liprin-alpha_SAM_rpt_1	UniProtKB/Swiss-Prot
	Liprin-alpha_SAM_rpt_2	UniProtKB/Swiss-Prot
	Liprin-alpha_SAM_rpt_3	UniProtKB/Swiss-Prot
	SAM	UniProtKB/Swiss-Prot
	SAM/pointed_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:8541	UniProtKB/Swiss-Prot
NCBI Gene	8541	ENTREZGENE
OMIM	603144	OMIM
PANTHER	PTHR12587	UniProtKB/Swiss-Prot
	PTHR12587:SF4	UniProtKB/Swiss-Prot
Pfam	SAM_1	UniProtKB/Swiss-Prot
	SAM_2	UniProtKB/Swiss-Prot
PharmGKB	PA33568	PharmGKB
PROSITE	SAM_DOMAIN	UniProtKB/Swiss-Prot
SMART	SAM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47769	UniProtKB/Swiss-Prot
UniProt	A0A0C4DGR7_HUMAN	UniProtKB/TrEMBL
	A0A0C4DGR8_HUMAN	UniProtKB/TrEMBL
	A8K142	ENTREZGENE
	LIPA3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q3MJA0	ENTREZGENE
	Q9H8B5	ENTREZGENE
	Q9UEW4	ENTREZGENE
	R4GN36_HUMAN	UniProtKB/TrEMBL
	R4GNF1_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K142	UniProtKB/Swiss-Prot
	Q3MJA0	UniProtKB/Swiss-Prot
	Q9H8B5	UniProtKB/Swiss-Prot
	Q9UEW4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	PPFIA3	PTPRF interacting protein alpha 3		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	Symbol and/or name change	5135510	APPROVED
2011-09-01	PPFIA3	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	PPFIA3	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	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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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

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