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Gene: RAPGEF5 (Rap guanine nucleotide exchange factor 5) Homo sapiens

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Symbol:

RAPGEF5

Name:

Rap guanine nucleotide exchange factor 5

RGD ID:

1343059

HGNC Page

HGNC:16862

Description:

Enables GTP-dependent protein binding activity and guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Located in nuclear body.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

GFR; guanine nucleotide exchange factor for Rap1; KIAA0277; M-Ras-regulated GEF; M-Ras-regulated Rap GEF; MR-GEF; MRGEF; Rap guanine nucleotide exchange factor (GEF) 5; related to Epac; REPAC

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	7	22,118,236 - 22,357,154 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	22,118,236 - 22,357,154 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	22,157,854 - 22,396,773 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	22,124,433 - 22,363,058 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	22,143,557 - 22,382,091 (-)	NCBI		Celera
Cytogenetic Map	7	p15.3	NCBI
HuRef	7	22,043,471 - 22,243,092 (-)	NCBI		HuRef
CHM1_1	7	22,158,708 - 22,397,156 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	22,254,475 - 22,493,270 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	22,209,210 - 22,447,742 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RAPGEF5	Human	dilated cardiomyopathy 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	ClinVar
RAPGEF5	Human	hypomyelinating leukodystrophy 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract	ClinVar	PMID:18022865 more ...
RAPGEF5	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358
RAPGEF5	Human	primary ciliary dyskinesia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Primary ciliary dyskinesia	ClinVar	PMID:18022865 more ...
RAPGEF5	Human	primary ciliary dyskinesia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Primary ciliary dyskinesia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RAPGEF5	Human	amphetamine abuse		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:18316681

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RAPGEF5	Human	1,2-dimethylhydrazine	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of RAPGEF5 mRNA	CTD	PMID:22206623
RAPGEF5	Human	17beta-estradiol	decreases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Estradiol results in decreased expression of RAPGEF5 mRNA	CTD	PMID:32145629
RAPGEF5	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of RAPGEF5 mRNA	CTD	PMID:31614463
RAPGEF5	Human	17beta-estradiol	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	Estradiol results in decreased expression of RAPGEF5 mRNA	CTD	PMID:39298647
RAPGEF5	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of RAPGEF5 mRNA	CTD	PMID:20106945 and PMID:21632981
RAPGEF5	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of RAPGEF5 mRNA	CTD	PMID:34747641
RAPGEF5	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of RAPGEF5 mRNA	CTD	PMID:32109520 and PMID:33387578
RAPGEF5	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of RAPGEF5 mRNA	CTD	PMID:25975270
RAPGEF5	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Rapgef5 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of RAPGEF5 mRNA	CTD	PMID:21570461
RAPGEF5	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of RAPGEF5 mRNA	CTD	PMID:26251327
RAPGEF5	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of RAPGEF5 gene	CTD	PMID:31601247
RAPGEF5	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Fenretinide results in increased expression of RAPGEF5 mRNA	CTD	PMID:28973697
RAPGEF5	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of RAPGEF5 gene and Aflatoxin B1 results in decreased methylation of RAPGEF5 intron	CTD	PMID:27153756 and PMID:30157460
RAPGEF5	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of RAPGEF5 intron	CTD	PMID:30157460
RAPGEF5	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of RAPGEF5 mRNA	CTD	PMID:24449571
RAPGEF5	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of RAPGEF5 mRNA	CTD	PMID:33212167
RAPGEF5	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of RAPGEF5 mRNA	CTD	PMID:26705709
RAPGEF5	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of RAPGEF5 mRNA	CTD	PMID:20106945
RAPGEF5	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of RAPGEF5 5' UTR more ...	CTD	PMID:27901495 and PMID:30157460
RAPGEF5	Human	benzo[a]pyrene	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of RAPGEF5 mRNA	CTD	PMID:21964900 more ...
RAPGEF5	Human	benzo[a]pyrene	affects expression	EXP		6480464	Benzo(a)pyrene affects the expression of RAPGEF5 mRNA	CTD	PMID:21632981
RAPGEF5	Human	benzo[a]pyrene	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Benzo(a)pyrene results in increased expression of RAPGEF5 mRNA	CTD	PMID:21839799
RAPGEF5	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of RAPGEF5 intron	CTD	PMID:30157460
RAPGEF5	Human	bisphenol A	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	bisphenol A results in increased expression of RAPGEF5 mRNA	CTD	PMID:26063408
RAPGEF5	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of RAPGEF5 gene	CTD	PMID:31601247
RAPGEF5	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of RAPGEF5 gene	CTD	PMID:31601247
RAPGEF5	Human	bisphenol A	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of RAPGEF5 mRNA	CTD	PMID:33296240
RAPGEF5	Human	bisphenol A	decreases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of RAPGEF5 mRNA	CTD	PMID:25181051
RAPGEF5	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of RAPGEF5 mRNA	CTD	PMID:26079696
RAPGEF5	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of RAPGEF5 mRNA	CTD	PMID:25979313
RAPGEF5	Human	carbon nanotube	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
RAPGEF5	Human	carnosic acid	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	salvin inhibits the reaction [sodium arsenite results in decreased expression of RAPGEF5 mRNA]	CTD	PMID:35202923
RAPGEF5	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to RAPGEF5 gene]	CTD	PMID:28238834
RAPGEF5	Human	chloroprene	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Chloroprene results in increased expression of RAPGEF5 mRNA	CTD	PMID:23125180
RAPGEF5	Human	chloroprene	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Chloroprene results in increased expression of RAPGEF5 mRNA	CTD	PMID:23125180
RAPGEF5	Human	chlorpyrifos	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of RAPGEF5 mRNA	CTD	PMID:37019170
RAPGEF5	Human	choline	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of RAPGEF5 gene	CTD	PMID:20938992
RAPGEF5	Human	ciguatoxin CTX1B	affects expression	ISO	Rapgef5 (Mus musculus)	6480464	Ciguatoxins affects the expression of RAPGEF5 mRNA	CTD	PMID:18353800
RAPGEF5	Human	clofibrate	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Clofibrate results in increased expression of RAPGEF5 mRNA	CTD	PMID:23811191
RAPGEF5	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of RAPGEF5 mRNA	CTD	PMID:20971185
RAPGEF5	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of RAPGEF5 mRNA	CTD	PMID:20971185
RAPGEF5	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of RAPGEF5 mRNA	CTD	PMID:19549813
RAPGEF5	Human	crocidolite asbestos	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	Asbestos and Crocidolite results in decreased expression of RAPGEF5 mRNA	CTD	PMID:29279043
RAPGEF5	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of RAPGEF5 mRNA	CTD	PMID:20106945 and PMID:25562108
RAPGEF5	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of RAPGEF5 mRNA	CTD	PMID:27989131
RAPGEF5	Human	cyclosporin A	increases methylation	EXP		6480464	Cyclosporine results in increased methylation of RAPGEF5 promoter	CTD	PMID:27989131
RAPGEF5	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of RAPGEF5 mRNA	CTD	PMID:26705709
RAPGEF5	Human	diquat	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	Diquat results in decreased expression of RAPGEF5 mRNA	CTD	PMID:36851058
RAPGEF5	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of RAPGEF5 mRNA	CTD	PMID:30031762
RAPGEF5	Human	folic acid	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of RAPGEF5 gene	CTD	PMID:20938992
RAPGEF5	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of RAPGEF5 gene	CTD	PMID:31601247
RAPGEF5	Human	furan	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	furan results in increased expression of RAPGEF5 mRNA	CTD	PMID:26194646
RAPGEF5	Human	genistein	decreases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Genistein results in decreased expression of RAPGEF5 protein	CTD	PMID:24552547
RAPGEF5	Human	gentamycin	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of RAPGEF5 mRNA	CTD	PMID:33387578
RAPGEF5	Human	glyphosate	affects methylation	ISO	Rapgef5 (Rattus norvegicus)	6480464	Glyphosate affects the methylation of RAPGEF5 gene	CTD	PMID:35440735
RAPGEF5	Human	glyphosate	decreases methylation	ISO	Rapgef5 (Rattus norvegicus)	6480464	Glyphosate results in decreased methylation of RAPGEF5 gene	CTD	PMID:31011160
RAPGEF5	Human	L-methionine	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of RAPGEF5 gene	CTD	PMID:20938992
RAPGEF5	Human	leflunomide	increases expression	EXP		6480464	leflunomide results in increased expression of RAPGEF5 mRNA	CTD	PMID:28988120
RAPGEF5	Human	malathion	increases expression	EXP		6480464	Malathion results in increased expression of RAPGEF5 mRNA	CTD	PMID:37047231
RAPGEF5	Human	methamphetamine	affects response to substance	EXP		6480464	RAPGEF5 gene SNP affects the susceptibility to Methamphetamine	CTD	PMID:18316681
RAPGEF5	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of RAPGEF5 intron	CTD	PMID:30157460
RAPGEF5	Human	N-nitrosodiethylamine	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Diethylnitrosamine results in increased expression of RAPGEF5 mRNA	CTD	PMID:24535843
RAPGEF5	Human	oxaliplatin	multiple interactions	ISO	Rapgef5 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of RAPGEF5 mRNA	CTD	PMID:25729387
RAPGEF5	Human	ozone	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in decreased expression of RAPGEF5 mRNA	CTD	PMID:34911549
RAPGEF5	Human	paclitaxel	increases expression	EXP		6480464	Paclitaxel results in increased expression of RAPGEF5 protein	CTD	PMID:15907983
RAPGEF5	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of RAPGEF5 mRNA	CTD	PMID:26690555
RAPGEF5	Human	paracetamol	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of RAPGEF5 mRNA	CTD	PMID:33387578
RAPGEF5	Human	permethrin	increases expression	EXP		6480464	Permethrin results in increased expression of RAPGEF5 mRNA	CTD	PMID:37047231
RAPGEF5	Human	phenformin	decreases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Phenformin results in decreased expression of RAPGEF5 mRNA	CTD	PMID:31324951
RAPGEF5	Human	pirinixic acid	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	pirinixic acid results in increased expression of RAPGEF5 mRNA	CTD	PMID:18301758 and PMID:23811191
RAPGEF5	Human	sodium arsenite	multiple interactions	EXP		6480464	[sodium arsenite affects the acetylation of H3-4 protein] which affects the methylation of RAPGEF5 promoter	CTD	PMID:18448484
RAPGEF5	Human	sodium arsenite	affects methylation	EXP		6480464	sodium arsenite affects the methylation of RAPGEF5 gene	CTD	PMID:28589171
RAPGEF5	Human	sodium arsenite	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	sodium arsenite results in decreased expression of RAPGEF5 mRNA	CTD	PMID:35202923
RAPGEF5	Human	sodium arsenite	multiple interactions	ISO	Rapgef5 (Mus musculus)	6480464	salvin inhibits the reaction [sodium arsenite results in decreased expression of RAPGEF5 mRNA]	CTD	PMID:35202923
RAPGEF5	Human	sotorasib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of RAPGEF5 mRNA	CTD	PMID:36139627
RAPGEF5	Human	sulforaphane	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	sulforaphane results in decreased expression of RAPGEF5 mRNA	CTD	PMID:30529165
RAPGEF5	Human	tetracycline	increases expression	ISO	Rapgef5 (Mus musculus)	6480464	Tetracycline results in increased expression of RAPGEF5 mRNA	CTD	PMID:16917069
RAPGEF5	Human	thimerosal	decreases expression	EXP		6480464	Thimerosal results in decreased expression of RAPGEF5 mRNA	CTD	PMID:27188386
RAPGEF5	Human	thioacetamide	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of RAPGEF5 mRNA	CTD	PMID:23411599 and PMID:34492290
RAPGEF5	Human	titanium dioxide	decreases expression	ISO	Rapgef5 (Mus musculus)	6480464	titanium dioxide results in decreased expression of RAPGEF5 mRNA	CTD	PMID:23557971
RAPGEF5	Human	titanium dioxide	increases methylation	ISO	Rapgef5 (Mus musculus)	6480464	titanium dioxide results in increased methylation of RAPGEF5 gene	CTD	PMID:35295148
RAPGEF5	Human	titanium dioxide	affects expression	ISO	Rapgef5 (Mus musculus)	6480464	titanium dioxide affects the expression of RAPGEF5 mRNA	CTD	PMID:17656681
RAPGEF5	Human	topotecan	multiple interactions	ISO	Rapgef5 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of RAPGEF5 mRNA	CTD	PMID:25729387
RAPGEF5	Human	trametinib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of RAPGEF5 mRNA	CTD	PMID:36139627
RAPGEF5	Human	trichloroethene	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of RAPGEF5 mRNA	CTD	PMID:33387578
RAPGEF5	Human	trichostatin A	decreases expression	EXP		6480464	trichostatin A results in decreased expression of RAPGEF5 mRNA	CTD	PMID:26705709
RAPGEF5	Human	triclosan	decreases expression	EXP		6480464	Triclosan results in decreased expression of RAPGEF5 mRNA	CTD	PMID:30510588
RAPGEF5	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of RAPGEF5 mRNA	CTD	PMID:25979313
RAPGEF5	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of RAPGEF5 mRNA	CTD	PMID:23179753 more ...
RAPGEF5	Human	vinclozolin	increases expression	ISO	Rapgef5 (Rattus norvegicus)	6480464	vinclozolin results in increased expression of RAPGEF5 mRNA	CTD	PMID:23034163
RAPGEF5	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of RAPGEF5 mRNA	CTD	PMID:27188386

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)
RAPGEF5	Human	intracellular signal transduction	involved_in	IEA	InterPro:IPR000591	150520179		InterPro	GO_REF:0000002
RAPGEF5	Human	nervous system development	involved_in	NAS		150520179	PMID:10486569	UniProt	PMID:10486569
RAPGEF5	Human	Ras protein signal transduction	involved_in	IBA	CGD:CAL0000178834 more ...	150520179		GO_Central	GO_REF:0000033
RAPGEF5	Human	small GTPase-mediated signal transduction	involved_in	IEA	InterPro:IPR001895 more ...	150520179		InterPro	GO_REF:0000002
RAPGEF5	Human	small GTPase-mediated signal transduction	involved_in	NAS		150520179	PMID:10486569	UniProt	PMID:10486569

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)
RAPGEF5	Human	nuclear body	located_in	IDA		150520179		HPA	GO_REF:0000052
RAPGEF5	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
RAPGEF5	Human	nucleus	located_in	IDA		150520179	PMID:10486569	UniProt	PMID:10486569
RAPGEF5	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
RAPGEF5	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
RAPGEF5	Human	plasma membrane	is_active_in	IBA	FB:FBgn0001965 more ...	150520179		GO_Central	GO_REF:0000033

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)
RAPGEF5	Human	GTP-dependent protein binding	enables	IPI	UniProtKB:O14807	150520179	PMID:10934204	UniProt	PMID:10934204
RAPGEF5	Human	guanyl-nucleotide exchange factor activity	enables	IEA	InterPro:IPR001895 more ...	150520179		InterPro	GO_REF:0000002
RAPGEF5	Human	guanyl-nucleotide exchange factor activity	enables	IBA	CGD:CAL0000178834 more ...	150520179		GO_Central	GO_REF:0000033
RAPGEF5	Human	guanyl-nucleotide exchange factor activity	enables	TAS		150520179	PMID:10934204	UniProt	PMID:10934204
RAPGEF5	Human	guanyl-nucleotide exchange factor activity	enables	IDA		150520179	PMID:10486569	UniProt	PMID:10486569
RAPGEF5	Human	guanyl-nucleotide exchange factor activity	enables	IEA	UniProtKB-KW:KW-0344	150520179		UniProt	GO_REF:0000043
RAPGEF5	Human	protein binding	enables	IPI	UniProtKB:Q12955	150520179	PMID:33961781	IntAct	PMID:33961781

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RAPGEF5	Human	Dilated cardiomyopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: CARDIOMYOPATHY and CONGESTIVE	ClinVar
RAPGEF5	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8561895	PMID:9039502	PMID:10486569	PMID:10777494	PMID:10934204	PMID:12477932	PMID:12690205	PMID:15342556	PMID:15489334	PMID:15856025	PMID:17725712	PMID:17903292
PMID:20379614	PMID:21546767	PMID:21873635	PMID:21988832	PMID:26871637	PMID:28514442	PMID:29507755	PMID:30021884	PMID:31452512	PMID:31629934	PMID:33961781	PMID:37705041
PMID:38489970	PMID:38775215

RAPGEF5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	22,118,236 - 22,357,154 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	22,118,236 - 22,357,154 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	22,157,854 - 22,396,773 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	22,124,433 - 22,363,058 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	22,143,557 - 22,382,091 (-)	NCBI		Celera
Cytogenetic Map	7	p15.3	NCBI
HuRef	7	22,043,471 - 22,243,092 (-)	NCBI		HuRef
CHM1_1	7	22,158,708 - 22,397,156 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	22,254,475 - 22,493,270 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	22,209,210 - 22,447,742 (-)	NCBI

Rapgef5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	117,480,146 - 117,723,472 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	117,480,099 - 117,723,472 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	117,516,526 - 117,759,737 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	117,516,479 - 117,759,737 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	118,754,952 - 118,995,451 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	117,958,488 - 118,198,654 (+)	NCBI		MGSCv36	mm8
MGSCv36	12	111,717,001 - 111,958,157 (+)	NCBI		MGSCv36	mm8
Cytogenetic Map	12	F2	NCBI
cM Map	12	63.06	NCBI

Rapgef5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	144,588,162 - 144,822,908 (+)	NCBI		GRCr8
mRatBN7.2	6	138,445,184 - 138,679,943 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	138,437,991 - 138,679,936 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	141,880,425 - 142,115,425 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	138,497,846 - 138,732,849 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	139,052,896 - 139,287,512 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	145,387,890 - 145,625,243 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	145,546,595 - 145,625,236 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	154,308,057 - 154,541,118 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	144,949,908 - 145,030,090 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	6	136,254,550 - 136,332,824 (+)	NCBI		Celera
Cytogenetic Map	6	q33	NCBI

Rapgef5
(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_004955410	24,525,748 - 24,716,372 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955410	24,525,748 - 24,716,151 (-)	NCBI	ChiLan1.0	ChiLan1.0

RAPGEF5
(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	6	26,984,630 - 27,225,479 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	75,309,356 - 75,550,210 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	22,806,855 - 23,047,663 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	22,118,332 - 22,317,650 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	22,122,434 - 22,317,650 (-)	Ensembl	panpan1.1		panPan2

RAPGEF5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	35,979,393 - 36,208,849 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	35,982,444 - 36,209,214 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	35,520,950 - 35,750,469 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	35,904,738 - 36,135,155 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	35,904,768 - 36,135,551 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	36,024,971 - 36,254,867 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	35,721,839 - 35,951,074 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	14	36,057,456 - 36,287,333 (-)	NCBI		UU_Cfam_GSD_1.0

Rapgef5
(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	80,185,677 - 80,381,255 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936546	7,864,608 - 8,051,356 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936546	7,860,795 - 8,051,351 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RAPGEF5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	90,958,078 - 91,578,992 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	90,958,078 - 91,232,256 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	100,401,677 - 100,899,598 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RAPGEF5
(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	21	35,894,481 - 36,132,041 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	35,940,360 - 36,133,715 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	68,454,107 - 68,689,515 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rapgef5
(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_004624739	8,427,796 - 8,610,694 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624739	8,388,172 - 8,614,469 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in RAPGEF5
50 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3	copy number gain	See cases [RCV000053528]	Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	copy number gain	See cases [RCV000053531]	Chr7:16234212..26167278 [GRCh38] Chr7:16273837..26206898 [GRCh37] Chr7:16240362..26173423 [NCBI36] Chr7:7p21.2-15.2	pathogenic
NM_012294.3(RAPGEF5):c.905C>T (p.Ser302Phe)	single nucleotide variant	Malignant melanoma [RCV000067819]	Chr7:22162461 [GRCh38] Chr7:22202079 [GRCh37] Chr7:22168604 [NCBI36] Chr7:7p15.3	not provided
NM_012294.3(RAPGEF5):c.1548+315G>A	single nucleotide variant	Lung cancer [RCV000105953]	Chr7:22146582 [GRCh38] Chr7:22186200 [GRCh37] Chr7:7p15.3	uncertain significance
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	copy number loss	See cases [RCV000134333]	Chr7:20210912..27849400 [GRCh38] Chr7:20250535..27889019 [GRCh37] Chr7:20217060..27855544 [NCBI36] Chr7:7p21.1-15.2	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	copy number gain	See cases [RCV000136557]	Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	copy number loss	See cases [RCV000136842]	Chr7:19145712..22193713 [GRCh38] Chr7:19185335..22233331 [GRCh37] Chr7:19151860..22199856 [NCBI36] Chr7:7p21.1-15.3	pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	copy number loss	See cases [RCV000136775]	Chr7:20561456..32005143 [GRCh38] Chr7:20601079..32044755 [GRCh37] Chr7:20567604..32011280 [NCBI36] Chr7:7p21.1-14.3	pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	copy number gain	See cases [RCV000136649]	Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	copy number gain	See cases [RCV000137824]	Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	copy number loss	See cases [RCV000137924]	Chr7:15533812..24851432 [GRCh38] Chr7:15573437..24891051 [GRCh37] Chr7:15539962..24857576 [NCBI36] Chr7:7p21.2-15.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	copy number gain	See cases [RCV000143060]	Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	copy number loss	See cases [RCV000142708]	Chr7:10610069..25760560 [GRCh38] Chr7:10649696..25800180 [GRCh37] Chr7:10616221..25766705 [NCBI36] Chr7:7p21.3-15.2	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	copy number gain	See cases [RCV000143586]	Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	copy number gain	See cases [RCV000446478]	Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2	pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	copy number gain	See cases [RCV000512091]	Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	copy number gain	See cases [RCV000510652]	Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3	pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	copy number gain	See cases [RCV000510275]	Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_012294.5(RAPGEF5):c.1319A>T (p.Asn440Ile)	single nucleotide variant	not specified [RCV004287583]	Chr7:22162506 [GRCh38] Chr7:22202124 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1648G>A (p.Val550Met)	single nucleotide variant	not specified [RCV004284536]	Chr7:22154593 [GRCh38] Chr7:22194211 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1109A>G (p.His370Arg)	single nucleotide variant	not specified [RCV004327730]	Chr7:22193921 [GRCh38] Chr7:22233539 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.910G>A (p.Gly304Arg)	single nucleotide variant	not specified [RCV004297374]	Chr7:22219952 [GRCh38] Chr7:22259571 [GRCh37] Chr7:7p15.3	uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_012294.5(RAPGEF5):c.1522C>T (p.Arg508Cys)	single nucleotide variant	not specified [RCV004320530]	Chr7:22160522 [GRCh38] Chr7:22200140 [GRCh37] Chr7:7p15.3	uncertain significance
NC_000007.13:g.(?_20994491)_(23030730_?)del	deletion	Hypomyelination and Congenital Cataract [RCV003122554]\|Primary ciliary dyskinesia [RCV003107317]	Chr7:20994491..23030730 [GRCh37] Chr7:7p15.3	pathogenic
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr)	single nucleotide variant	Dilated cardiomyopathy 1A [RCV002259540]	Chr7:22131087 [GRCh38] Chr7:22170705 [GRCh37] Chr7:7p15.3	likely pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	copy number gain	not specified [RCV002053668]	Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2	likely pathogenic
NC_000007.13:g.(?_20994491)_(23213917_?)dup	duplication	Primary ciliary dyskinesia [RCV001940076]	Chr7:20994491..23213917 [GRCh37] Chr7:7p15.3	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_012294.5(RAPGEF5):c.882G>T (p.Met294Ile)	single nucleotide variant	not specified [RCV004310330]	Chr7:22219980 [GRCh38] Chr7:22259599 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2576A>G (p.Tyr859Cys)	single nucleotide variant	not specified [RCV004190376]	Chr7:22122482 [GRCh38] Chr7:22162100 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1159C>T (p.Leu387Phe)	single nucleotide variant	not specified [RCV004184927]	Chr7:22193412 [GRCh38] Chr7:22233030 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.467T>C (p.Ile156Thr)	single nucleotide variant	not specified [RCV004217138]	Chr7:22310013 [GRCh38] Chr7:22349632 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.830A>G (p.His277Arg)	single nucleotide variant	not specified [RCV004189814]	Chr7:22230886 [GRCh38] Chr7:22270505 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1100C>T (p.Ala367Val)	single nucleotide variant	not specified [RCV004097444]	Chr7:22193930 [GRCh38] Chr7:22233548 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.857T>A (p.Val286Asp)	single nucleotide variant	not specified [RCV004126350]	Chr7:22230859 [GRCh38] Chr7:22270478 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1038C>G (p.Asp346Glu)	single nucleotide variant	not specified [RCV004231157]	Chr7:22193992 [GRCh38] Chr7:22233610 [GRCh37] Chr7:7p15.3	likely benign
NM_012294.5(RAPGEF5):c.1515G>T (p.Met505Ile)	single nucleotide variant	not specified [RCV004166162]	Chr7:22160529 [GRCh38] Chr7:22200147 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1333C>T (p.Arg445Cys)	single nucleotide variant	not specified [RCV004187775]	Chr7:22162492 [GRCh38] Chr7:22202110 [GRCh37] Chr7:7p15.3	likely benign
NM_012294.5(RAPGEF5):c.808G>A (p.Asp270Asn)	single nucleotide variant	not specified [RCV004093744]	Chr7:22230908 [GRCh38] Chr7:22270527 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2323T>A (p.Leu775Ile)	single nucleotide variant	not specified [RCV004173042]	Chr7:22136938 [GRCh38] Chr7:22176556 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1919G>A (p.Arg640Lys)	single nucleotide variant	not specified [RCV004603428]	Chr7:22146985 [GRCh38] Chr7:22186603 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1994A>G (p.Asn665Ser)	single nucleotide variant	not specified [RCV004220886]	Chr7:22146910 [GRCh38] Chr7:22186528 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.662G>A (p.Arg221Lys)	single nucleotide variant	not specified [RCV004256408]	Chr7:22308357 [GRCh38] Chr7:22347976 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.763G>A (p.Ala255Thr)	single nucleotide variant	not specified [RCV004267068]	Chr7:22266997 [GRCh38] Chr7:22306616 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.866C>G (p.Ser289Cys)	single nucleotide variant	not specified [RCV004355868]	Chr7:22230850 [GRCh38] Chr7:22270469 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1739A>G (p.Gln580Arg)	single nucleotide variant	not specified [RCV004339113]	Chr7:22154502 [GRCh38] Chr7:22194120 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2504G>A (p.Arg835Gln)	single nucleotide variant	not specified [RCV004355985]	Chr7:22125636 [GRCh38] Chr7:22165254 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1406A>G (p.Glu469Gly)	single nucleotide variant	not specified [RCV004352350]	Chr7:22162419 [GRCh38] Chr7:22202037 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1589A>G (p.Lys530Arg)	single nucleotide variant	not specified [RCV004364097]	Chr7:22156857 [GRCh38] Chr7:22196475 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2182G>A (p.Ala728Thr)	single nucleotide variant	not specified [RCV004353148]	Chr7:22145048 [GRCh38] Chr7:22184666 [GRCh37] Chr7:7p15.3	uncertain significance
GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	copy number gain	not provided [RCV003484680]	Chr7:22362299..23695195 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.870+6A>T	single nucleotide variant	not provided [RCV003436680]	Chr7:22230840 [GRCh38] Chr7:22270459 [GRCh37] Chr7:7p15.3	likely benign
NM_012294.5(RAPGEF5):c.2258G>A (p.Arg753Gln)	single nucleotide variant	not provided [RCV003740550]	Chr7:22140044 [GRCh38] Chr7:22179662 [GRCh37] Chr7:7p15.3	uncertain significance
GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	copy number loss	not specified [RCV003986690]	Chr7:13107394..27514163 [GRCh37] Chr7:7p21.3-15.2	pathogenic
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	copy number loss	not specified [RCV003986712]	Chr7:17736012..30663423 [GRCh37] Chr7:7p21.1-14.3	pathogenic
NM_012294.5(RAPGEF5):c.883T>C (p.Cys295Arg)	single nucleotide variant	not specified [RCV004438460]	Chr7:22219979 [GRCh38] Chr7:22259598 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1793A>G (p.His598Arg)	single nucleotide variant	not specified [RCV004438457]	Chr7:22150498 [GRCh38] Chr7:22190116 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1849A>G (p.Ile617Val)	single nucleotide variant	not specified [RCV004438458]	Chr7:22150442 [GRCh38] Chr7:22190060 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2295T>G (p.Phe765Leu)	single nucleotide variant	not specified [RCV004438459]	Chr7:22136966 [GRCh38] Chr7:22176584 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.994C>G (p.His332Asp)	single nucleotide variant	not specified [RCV004438461]	Chr7:22219868 [GRCh38] Chr7:22259487 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1018G>A (p.Val340Ile)	single nucleotide variant	not specified [RCV004438462]	Chr7:22194012 [GRCh38] Chr7:22233630 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1022A>G (p.Gln341Arg)	single nucleotide variant	not specified [RCV004438463]	Chr7:22194008 [GRCh38] Chr7:22233626 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1631A>C (p.Glu544Ala)	single nucleotide variant	not specified [RCV004438456]	Chr7:22156815 [GRCh38] Chr7:22196433 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1334G>A (p.Arg445His)	single nucleotide variant	not specified [RCV004438464]	Chr7:22162491 [GRCh38] Chr7:22202109 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.1439G>A (p.Arg480Lys)	single nucleotide variant	not specified [RCV004860416]	Chr7:22160605 [GRCh38] Chr7:22200223 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.950A>G (p.Tyr317Cys)	single nucleotide variant	not specified [RCV004860415]	Chr7:22219912 [GRCh38] Chr7:22259531 [GRCh37] Chr7:7p15.3	likely benign
NM_012294.5(RAPGEF5):c.1120G>A (p.Val374Met)	single nucleotide variant	not specified [RCV004854275]	Chr7:22193451 [GRCh38] Chr7:22233069 [GRCh37] Chr7:7p15.3	uncertain significance
NM_012294.5(RAPGEF5):c.2483A>G (p.His828Arg)	single nucleotide variant	not specified [RCV004854276]	Chr7:22125657 [GRCh38] Chr7:22165275 [GRCh37] Chr7:7p15.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5372
Count of miRNA genes:	1374
Interacting mature miRNAs:	1842
Transcripts:	ENST00000344041, ENST00000401957, ENST00000405243, ENST00000420196, ENST00000451559, ENST00000458533, ENST00000468825, ENST00000471484, ENST00000475788, ENST00000488366, ENST00000497668
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
407302085	GWAS951061_H	unipolar depression QTL GWAS951061 (human)		0.0000001	unipolar depression		7	22242733	22242734	Human
596970870	GWAS1090389_H	major depressive disorder QTL GWAS1090389 (human)		0.0000001	major depressive disorder		7	22242733	22242734	Human
1643391	BW322_H	Body weight QTL 322 (human)	2.69	0.0002	Body fat amount		7	1	22435431	Human
597061821	GWAS1157895_H	susceptibility to childhood ear infection measurement QTL GWAS1157895 (human)		0.000001	response to infection trait (VT:0010434)		7	22158813	22158814	Human
406924170	GWAS573146_H	glaucoma QTL GWAS573146 (human)		2e-08	glaucoma		7	22253498	22253499	Human
597109307	GWAS1205381_H	major depressive disorder QTL GWAS1205381 (human)		0.0000001	major depressive disorder		7	22242733	22242734	Human
597106809	GWAS1202883_H	cytokine measurement QTL GWAS1202883 (human)		0.000006	cytokine measurement	blood cytokine measurement (CMO:0001924)	7	22123754	22123755	Human
597093336	GWAS1189410_H	response to glucocorticoid, osteonecrosis QTL GWAS1189410 (human)		0.000004	response to glucocorticoid, osteonecrosis		7	22147462	22147463	Human
596964922	GWAS1084441_H	glaucoma QTL GWAS1084441 (human)		2e-08	glaucoma		7	22253498	22253499	Human
1643402	BMD2_H	Bone mineral density QTL 2 (human)	2.69	0.0002	Bone mineral density		7	1	22435431	Human
597349129	GWAS1445203_H	glaucoma QTL GWAS1445203 (human)		2e-08	glaucoma		7	22253498	22253499	Human
597434569	GWAS1530643_H	gut microbiome measurement QTL GWAS1530643 (human)		2e-08	gut microbiome measurement		7	22220051	22220052	Human
597614280	GWAS1671140_H	acute tonsillitis QTL GWAS1671140 (human)		4e-14	acute tonsillitis		7	22281784	22281785	Human
597129582	GWAS1225656_H	placenta growth factor measurement QTL GWAS1225656 (human)		0.0000005	placenta growth factor measurement		7	22213017	22213018	Human

D7S2510

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,177,578 - 22,177,774	UniSTS	GRCh37
GRCh37	7	22,177,505 - 22,177,620	UniSTS	GRCh37
Build 36	7	22,144,103 - 22,144,299	RGD	NCBI36
Celera	7	22,163,232 - 22,163,428	RGD
Celera	7	22,163,159 - 22,163,274	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,063,071 - 22,063,186	UniSTS
HuRef	7	22,063,144 - 22,063,344	UniSTS
CRA_TCAGchr7v2	7	22,228,883 - 22,229,078	UniSTS
CRA_TCAGchr7v2	7	22,228,810 - 22,228,925	UniSTS
Marshfield Genetic Map	7	37.51	RGD
Genethon Genetic Map	7	36.7	UniSTS
deCODE Assembly Map	7	38.32	UniSTS
Whitehead-YAC Contig Map	7		UniSTS

D7S1429

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,360,008 - 22,360,134	UniSTS	GRCh37
Build 36	7	22,326,533 - 22,326,659	RGD	NCBI36
Celera	7	22,345,566 - 22,345,692	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,245,443 - 22,245,569	UniSTS
CRA_TCAGchr7v2	7	22,411,216 - 22,411,342	UniSTS

RH123760

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,174,915 - 22,175,264	UniSTS	GRCh37
Build 36	7	22,141,440 - 22,141,789	RGD	NCBI36
Celera	7	22,160,569 - 22,160,918	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,060,481 - 22,060,830	UniSTS
CRA_TCAGchr7v2	7	22,226,220 - 22,226,569	UniSTS
TNG Radiation Hybrid Map	7	10116.0	UniSTS

G17170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,257,028 - 22,257,197	UniSTS	GRCh37
Build 36	7	22,223,553 - 22,223,722	RGD	NCBI36
Celera	7	22,242,582 - 22,242,751	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,142,471 - 22,142,640	UniSTS
CRA_TCAGchr7v2	7	22,308,235 - 22,308,404	UniSTS

SHGC-106887

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,181,544 - 22,181,815	UniSTS	GRCh37
Build 36	7	22,148,069 - 22,148,340	RGD	NCBI36
Celera	7	22,167,198 - 22,167,469	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,067,114 - 22,067,385	UniSTS
CRA_TCAGchr7v2	7	22,232,848 - 22,233,119	UniSTS
TNG Radiation Hybrid Map	7	10128.0	UniSTS

SHGC-155317

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,184,007 - 22,184,323	UniSTS	GRCh37
Build 36	7	22,150,532 - 22,150,848	RGD	NCBI36
Celera	7	22,169,663 - 22,169,979	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,069,577 - 22,069,893	UniSTS
CRA_TCAGchr7v2	7	22,235,311 - 22,235,627	UniSTS
TNG Radiation Hybrid Map	7	10124.0	UniSTS

SHGC-55982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,291,227 - 22,291,376	UniSTS	GRCh37
Build 36	7	22,257,752 - 22,257,901	RGD	NCBI36
Celera	7	22,276,778 - 22,276,927	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,176,664 - 22,176,813	UniSTS
CRA_TCAGchr7v2	7	22,342,434 - 22,342,583	UniSTS
GeneMap99-GB4 RH Map	7	94.46	UniSTS
Whitehead-RH Map	7	63.3	UniSTS
NCBI RH Map	7	327.6	UniSTS

SGC30845

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,157,939 - 22,158,045	UniSTS	GRCh37
Build 36	7	22,124,464 - 22,124,570	RGD	NCBI36
Celera	7	22,143,588 - 22,143,694	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,043,502 - 22,043,607	UniSTS
CRA_TCAGchr7v2	7	22,209,241 - 22,209,347	UniSTS
GeneMap99-GB4 RH Map	7	94.56	UniSTS
Whitehead-RH Map	7	63.3	UniSTS
NCBI RH Map	7	337.9	UniSTS

GDB:1318178

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,390,449 - 22,390,662	UniSTS	GRCh37
Build 36	7	22,356,974 - 22,357,187	RGD	NCBI36
Celera	7	22,376,007 - 22,376,220	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,275,884 - 22,276,097	UniSTS
CRA_TCAGchr7v2	7	22,441,658 - 22,441,871	UniSTS

D7S1976

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,348,508 - 22,348,631	UniSTS	GRCh37
Build 36	7	22,315,033 - 22,315,156	RGD	NCBI36
Celera	7	22,334,060 - 22,334,183	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,233,936 - 22,234,059	UniSTS
CRA_TCAGchr7v2	7	22,399,716 - 22,399,839	UniSTS

GDB:1317236

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,314,328 - 22,314,427	UniSTS	GRCh37
Build 36	7	22,280,853 - 22,280,952	RGD	NCBI36
Celera	7	22,299,876 - 22,299,975	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,199,751 - 22,199,850	UniSTS
CRA_TCAGchr7v2	7	22,365,533 - 22,365,632	UniSTS

RH70247

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,219,960 - 22,220,135	UniSTS	GRCh37
Build 36	7	22,186,485 - 22,186,660	RGD	NCBI36
Celera	7	22,205,487 - 22,205,662	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,105,402 - 22,105,577	UniSTS
CRA_TCAGchr7v2	7	22,271,143 - 22,271,318	UniSTS
GeneMap99-GB4 RH Map	7	97.39	UniSTS

RH46082

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,172,135 - 22,172,297	UniSTS	GRCh37
Build 36	7	22,138,660 - 22,138,822	RGD	NCBI36
Celera	7	22,157,785 - 22,157,947	RGD
Celera	7	6,772,631 - 6,772,793	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,057,697 - 22,057,859	UniSTS
CRA_TCAGchr7v2	7	22,223,437 - 22,223,599	UniSTS
GeneMap99-GB4 RH Map	7	94.56	UniSTS

SGC38371

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	22,172,135 - 22,172,390	UniSTS	GRCh37
Build 36	7	22,138,660 - 22,138,915	RGD	NCBI36
Celera	7	22,157,785 - 22,158,040	RGD
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	22,057,697 - 22,057,952	UniSTS
CRA_TCAGchr7v2	7	22,223,437 - 22,223,692	UniSTS
GeneMap99-GB4 RH Map	7	94.56	UniSTS
Whitehead-RH Map	7	65.7	UniSTS
NCBI RH Map	7	337.9	UniSTS

D7S2510

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	7	p15.3	UniSTS
Marshfield Genetic Map	7	37.51	UniSTS
Genethon Genetic Map	7	36.7	UniSTS
deCODE Assembly Map	7	38.32	UniSTS
Whitehead-YAC Contig Map	7		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	2430	2788	2245	4951	1723	2336	3	621	1900	464	2267	7238	6411	43	3718	849	1732	1602	174	1


RefSeq Transcripts	NM_001367600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001367601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001367602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001367603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_012294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005249916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047421083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047421084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA732485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AA815190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AA890636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW511225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF512545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP349215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D87467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN996625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	W56891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000344041 ⟹ ENSP00000343656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,118,291 - 22,356,914 (-)	Ensembl

Ensembl Acc Id:

ENST00000401957 ⟹ ENSP00000384044

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,118,238 - 22,193,909 (-)	Ensembl

Ensembl Acc Id:

ENST00000405243 ⟹ ENSP00000384870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,192,177 - 22,357,144 (-)	Ensembl

Ensembl Acc Id:

ENST00000420196 ⟹ ENSP00000395729

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,167,070 - 22,220,238 (-)	Ensembl

Ensembl Acc Id:

ENST00000451559 ⟹ ENSP00000403956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,157,864 - 22,193,744 (-)	Ensembl

Ensembl Acc Id:

ENST00000458533 ⟹ ENSP00000415664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,154,570 - 22,194,763 (-)	Ensembl

Ensembl Acc Id:

ENST00000468825

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,139,757 - 22,145,266 (-)	Ensembl

Ensembl Acc Id:

ENST00000471484

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,308,447 - 22,356,225 (-)	Ensembl

Ensembl Acc Id:

ENST00000475788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,191,439 - 22,291,241 (-)	Ensembl

Ensembl Acc Id:

ENST00000488366

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,125,232 - 22,136,072 (-)	Ensembl

Ensembl Acc Id:

ENST00000497668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,356,310 - 22,356,910 (-)	Ensembl

Ensembl Acc Id:

ENST00000620335 ⟹ ENSP00000479340

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,118,309 - 22,193,735 (-)	Ensembl

Ensembl Acc Id:

ENST00000665637 ⟹ ENSP00000499535

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	22,118,236 - 22,357,154 (-)	Ensembl

RefSeq Acc Id:

NM_001367600 ⟹ NP_001354529

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,193,745 (-)	NCBI
T2T-CHM13v2.0	7	22,254,475 - 22,329,866 (-)	NCBI

Sequence:

show sequence

AGATGGACTCAGTTCCCAGTGAAAGGACAGGGATGGCAAGATCTTTTAGCATTTAGGGGATGCCTTTGTTAGTAACCGTTCACAATGGGCAGCTCCCGGCTGAGGGTCTTTGACCCTCATTTGGAGAG
GAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCTACCTTCGATGTGCCTTATTTCAAATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCG
AGGATGACTCAGTGGACTCTCTGCTCTCTGACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAGAGACC
CTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAG
GAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAAT
ATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAG
AACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGT
CGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAA
TATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTT
GATTGGAGTCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAGAGATGCAATGAGGTCCAGCTTTG
GGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGG
GTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCCTTCCCTAAATCACAAAGCCTACAGAGAT
GCATTCAAAAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGATGTAACATTTATTCATGAAGGAAATAAAACTTTTTTGGATAATCTTGTCAATTTTGAAAAGCTGCATATGAT
CGCAGACACTGTCCGAACCCTGAGACACTGCAGGACTAACCAGTTTGGTGACCTGTCTCCAAAAGAGCATCAAGAGTTAAAGTCCTATGTTAATCACCTGTATGTCATTGACAGCCAGCAGGCTCTGT
TTGAGCTCTCACACAGGATCGAGCCTCGGGTGTGAGCCCCACTGCCTCACCTCCCCTGTATCTGCAGCACTTTGAGCTACGGGAATGTCTATGCCAAGCACGTTGCTTTCCTGTGAGAAAAGAAGTTG
CTGAGTTTTATCAGTATAACCCAAGACATTCACAGGAAAGCCAGCCAAAGCGTGTTCAGGAAGTGATGTCAGCCACCAGAGAGGGGGAGAGGTTTCTCCATGCTACTCTCGGGACAAGAAGGCAGAAG
GAGAGTCAGAAGCATTCTTGAGATGGAGAAGGCTGGTTTCTTATGATCACATTGTTGATCCAGTCCAGTTTTCAATATGAGATGTGCCAGCATCAAGACAAGACAACGTCTTGACATGCAATGACCAA
ATATTTCATTAAGAGCGTGCATGAAACAGGAAGGAGTTTTTACTTTGCCTAGTTTTAGATTACTGTCCATAAGCTGTCAAAGAAGTCATTCTTTTGAACACCTGATGACAGAGACAGCATCTCTAGAT
CTCCAGGGAGGAGAGGTTTCTGTTGATACAACCTGTGACATCACCAAAAGCCACTTGTGTCTAGGGAGTTAGTGAGGACTGCAGCTAGCATCCATGCTCTGATGGGCAGATGAACAATGTCAAGGTGT
GCATCACTTTGCACCACAATCAACTATTGACACATGCTTGCAGGTGAAATTAGTTTCTGTACAACTGATTTGCAGCTATAGGCAAGGTAGATGAAGTTGCTTTGCCAGTAAGGAAAAATAGTAATCTT
TAAGAAATTGACTCATTGTTTAATTTCTGGGGATTTTCTTTATACTTCTAAGCAGGCTCTTATCTTTTATTGGACATAATATGATTTTGAAAAAGCACAGTGCCTGACACATTGCAAACACTCACCAA
CTGCTTGCTGAGGTGACAGAGTCACAAAAGTCTGCATTCTTGTGCCTGATGATGCATTTTGCGTACCTCATACAGGCTCCTTGCCCACACTATGGAATGACAGCAGCCAGTGCAGGGAGGTTAAGTGA
CATTTAATGAGTGAAGCACTTAGCACTCTCTAGGTAATAAGATAGTGGTAATTACTAGTGTTTTGGCAAATGAAAAATGCCCTGAAATAGCCAAATGTCTGATTAATGTTGGCAACTTAGAAGTCCTA
TAATCCAACTACCAGCCAAAGCAGGGAGCCTTTCTATAATTTGCCTTTTTTTTTTTTTTTTTCAAAATCTGAGTCTTCTAAAATCTTATTATTCCCATTTTTACCAATTGAGGCTCCTGTAGCAAATA
AGACCTCTTGATATTTTCAAGGACTGGTTAGAGGATTTCTTTCAACCTTCACATGAACAAAACAGCCTATGGGTCAAAATAATGAAATCCACCCCTGCCTGCTAGATACTTGTCACCTTGCTAAAATG
CAAGGGCCTGGTCCATTCATTTTCCAAATGCAGGAGTCTTGGTGCACTTCTCACTCTTCCTGCCTGTTCATCTCTTTCATGCCCACACAGACCTGTTTCCTTTTTGTCTCATCAACGCCTCATTCATC
CTCATTACTGAGGCGTGTCCAATGCTTTTTGACATCTTTATAGCAGTGCTGTTTCCTGGGCTCAGGAACCACACTGAGCTTGAGATACTGCTGGAAGGAACCATGTGGAGAGAAGGTTTGGGAGAACT
TTGAGAGAGACTTAGTTTGGCCCAGCATGTAAAACTTCAGTCCTGAACATTTATAGGGTTTTATAGAAGGGCATCCTCCAGGGCTGGTCCATTCAGAGAAATGCTGCATGCTGCCGTCATGGAATGTG
GCCCACAGGACACCAGAGCCGTGAGAACCGGAGAGCAGACTTCCCTCACGGCTGGGCTGAGCAAACCCTCCAAAGCCCTCCTCACGCAGTTACTAACAATAGCATGGGCTTACAGCACAAGCACGTGT
TCTCACCTTTTTCCTATGCCCTGGACTAAGGTTTGGCCAGTGTAATCATATAAGGCCATCCTGACATTGTTTCTGTGTTTCAAAATTTGGATTTTTATTTACATTAGAACTACATTGCTCCTAGTAGA
ACATTACCTTTAGGGGACTAATTTTCCATGGAGAACTATTTCAGCATATTGCATGCTGCTCAGACCCCAAGTCAGATATGCCCACCAAGCCAGATGAAGCTACACAAATGTGGTATTTAAATGCATTT
TGTACAGTGACTTCAGAGTATCTCACATGACATGGGTGTAAACTGGCTGGGGAGAAAATGATGCTTGTTCACCTCTTCCTCCAGCCGTGGTTAGGTGGTCCTAGGGGTAGCAGAGGGAAGGGAGGATT
TTGTGCAGTCAAGATTTGCTTTTCCATCCTTGTCTTCTGAATGTCTAAAATCTCTGCATCTTTCTGAAGTTTAACAACTGTCTCCAGAGGTTTGCCAGGCAGCAGCTCTCAGAAGTTTCCAAAGCTTT
GCAGAATCTTAGATCTGGAATTAAAGAATTCAAGCCCGAATTGTGAGAACCAGATATTACTCAACAGAAAGCTCTTTCTAAGGAATCTGAGCTGTTCACTGGTGGACAGTGGTGGGGCTTGAGTGCTC
CTTGTTAATAGGATGGGCCATGCACCCTCTCTGGATATTCACCAAGGCCTCTTCAGAATAGGGTTTGTTCTGGCTAGAAGCGTGGTCTAGAAGATGGCTAAGCTCTTTGCCAGCTCTCATTTGGAGTT
TTATTATTGCATAAAATCTTCGCTCACTCTGCAAATCTTACGTAATCTGGCACCTTCGGCACCAGGTGGTGCAGGGGCACTTCTAAGTGGGCTCTTTTTGTTACAGCACAACTCTCAGACAGTCCTGT
GGGTCTTTGGATTCGTCAGCATTCCAGCAAACTAGCCCTGCTTAGAAGTTAGCACAAGACAGCAGAATGCAGGACCCCGTAGGCAAAATCACAACCTTGCTATTAAAAAAAATTTTGTTTTACATACA
CATTTGCAGGTGTTCCCTAGAGTGTGGTGTTTTGAATTTGCTCTTTGTCATCTGTATAATTGCCAAATGATTATAGTGATACACATGACCTGCATTCACTTTTTTCTAGTTTCCTTAATTATGTTTAG
AATAAATTCATTTCCCTAGACCGAGAACCACAAACAGGTAGTGTGGAGCATACACCGAATTTAGAAGCATGTGGATAAGGTCAGTGCTCACACTGCCTAGTCCACAGGGAGAGGATGCTGCATGAATA
TATACTTGCCTCTGAGTGGAGGAGAAATCGTGGCATGAAAGAGAGAGTACCAGTGATGACTTCTTATCCCTGGAGCTGGGCTTTCACTGCTACCCATATCCCAGCCCTGCGAGTCTGTTCTAGCCAGC
ACAGACACCGCAGATCCGGAACTGAATGTTCCTAAATGGCGCAGCCAATCCAGGCTTTTCAGAAACTGGGCAAAAACATTAAAATGGGGACGATCGGGTCTTCCGCAGTGGTCCAACACAGGATTTCT
TTTAAATGTTTCAAAAACATGTCCTTAAAATTTCAGCCTGCTTCTTAGCGAGTGGGCCAGTTTTGCTTAAAACTGGTGGGGGGGCGGGGGGGAAGTTTTTAAAAATTGCCAAAAAGTTAGATGCAAAT
GTATTACTGTATAAAGCAAAGCTGTATATACTAAACATTTTTTAGCAGAGTAATATTTATTTGCATAGTCTATTTATTGTATTCGTATCACACTGTTATTAAATACTGGGATGAAATCAGTGACCTGA
AGCAAGAAATCTTGCCTTTTAATGTATCATTAATTAGGGCTGCTGTGATATTGTCAGCTTGCATTAACAATTAGAAGATAGAGAACCCGCCATCAGGGTGTCTACCTAACTTCTCAGGGACTACACTT
GGTAGTTTTCCACCATTTAAAGAACTGGTAAATATGAAACATTTGTTGAGTTACCAGAATTGCCATTAACAGTGTTTTCTTTCCCATATTCCATGCTTTCTGCCTCTGTGTATATATATAATATATAT
GTATATGACTGTGCTGTGTATTTATCGAAGCTAGTAAGCAATAATTTATATGTAAAAATGGCCAAGCAATATAAGGTTAAAACTTATATAAGTAACCCTTACCTTATCTTGTATTTTCAATTTTTTTT
TAAAACTGCTTTTCCAAATATGAGACTATGTTAAAGACACTATTCATGCCTCTTAGTTTCTTGCTTTCTCTGTGATGTGTGTGGATTAAATAGCTCTGTTCTGGCAGCA

hide sequence

RefSeq Acc Id:

NM_001367601 ⟹ NP_001354530

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,134,818 - 22,193,745 (-)	NCBI
T2T-CHM13v2.0	7	22,271,058 - 22,329,866 (-)	NCBI

Sequence:

show sequence

AGATGGACTCAGTTCCCAGTGAAAGGACAGGGATGGCAAGATCTTTTAGCATTTAGGGGATGCCTTTGTTAGTAACCGTTCACAATGGGCAGCTCCCGGCTGAGGGTCTTTGACCCTCATTTGGAGAG
GAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCTACCTTCGATGTGCCTTATTTCAAATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCG
AGGATGACTCAGTGGACTCTCTGCTCTCTGACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAGAGACC
CTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAG
GAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAAT
ATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAG
AACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGT
CGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAA
TATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTT
GATTGGAGTCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAGAGATGCAATGAGGTCCAGCTTTG
GGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGG
GTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCCTTCCCTAAATCACAAAGCCTACAGAGAT
GCATTCAAAAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGCTTCTCTCAAGAACAGCCAGAGCTTGGAAAATTATTGTGAGTTGCCGTACATCGTGCAGCTACTCACTGAGTC
TTCCTTCATCAAATATGAAGCAAGAATCTCTGTGAAACAGGAATATAATATTAGGACAATGGAGATAGATATGCACAGATGCGTCATCCAAGCCGAAAATATTCTGTTAAATACAAATGCGTGAAATA
AAGAGACACTGTGGTGCCCAAATAATAATTTAAAA

hide sequence

RefSeq Acc Id:

NM_001367602 ⟹ NP_001354531

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,194,810 (-)	NCBI
T2T-CHM13v2.0	7	22,254,475 - 22,330,931 (-)	NCBI

Sequence:

show sequence

ACACTCACTCTGGGCTGTGGAAGCTGTGTGTGCAGAAATGAATCTGTGTGTTCAGCCATCTCTC
CTTTTTAAAAAGGGACTGAGGTGAAGAAAGTCTGTGCAGTCATCCATGGCATCCGAATTTCAGCCTAGATGAGATTCTAACTAGAGATCCATTTTTGCTTATATTCTGGCAAAACTAGTACATTATAA
ATTTGAAGGCCATCTCAAGTCTGAAAAAAAAATTGAATTGAATGATGGACAAGATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTGCTGAAGAAAGTGCAGTGCTGTG
GCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACA
GTTATACCAACCCCTGGGATCACATGTGTCACTTCTGCCATGTGCTCACAAAGCCAAGCGGACCAGGACTTCATGGCTTGACTCTCCTAGCACCAACCTAAGTGGGGAAGAAGGGAGACCCTCCTGGA
TGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTA
AAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAATA
CTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCT
CCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAG
AAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAATATATGTC
TACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAG
TCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAGAGATGCAATGAGGTCCAGCTTTGGGTGGCCA
CGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGGGTCTCAAC
ACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCCTTCCCTAAATCACAAAGCCTACAGAGATGCATTCAA
AAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGATGTAACATTTATTCATGAAGGAAATAAAACTTTTTTGGATAATCTTGTCAATTTTGAAAAGCTGCATATGATCGCAGACA
CTGTCCGAACCCTGAGACACTGCAGGACTAACCAGTTTGGTGACCTGTCTCCAAAAGAGCATCAAGAGTTAAAGTCCTATGTTAATCACCTGTATGTCATTGACAGCCAGCAGGCTCTGTTTGAGCTC
TCACACAGGATCGAGCCTCGGGTGTGAGCCCCACTGCCTCACCTCCCCTGTATCTGCAGCACTTTGAGCTACGGGAATGTCTATGCCAAGCACGTTGCTTTCCTGTGAGAAAAGAAGTTGCTGAGTTT
TATCAGTATAACCCAAGACATTCACAGGAAAGCCAGCCAAAGCGTGTTCAGGAAGTGATGTCAGCCACCAGAGAGGGGGAGAGGTTTCTCCATGCTACTCTCGGGACAAGAAGGCAGAAGGAGAGTCA
GAAGCATTCTTGAGATGGAGAAGGCTGGTTTCTTATGATCACATTGTTGATCCAGTCCAGTTTTCAATATGAGATGTGCCAGCATCAAGACAAGACAACGTCTTGACATGCAATGACCAAATATTTCA
TTAAGAGCGTGCATGAAACAGGAAGGAGTTTTTACTTTGCCTAGTTTTAGATTACTGTCCATAAGCTGTCAAAGAAGTCATTCTTTTGAACACCTGATGACAGAGACAGCATCTCTAGATCTCCAGGG
AGGAGAGGTTTCTGTTGATACAACCTGTGACATCACCAAAAGCCACTTGTGTCTAGGGAGTTAGTGAGGACTGCAGCTAGCATCCATGCTCTGATGGGCAGATGAACAATGTCAAGGTGTGCATCACT
TTGCACCACAATCAACTATTGACACATGCTTGCAGGTGAAATTAGTTTCTGTACAACTGATTTGCAGCTATAGGCAAGGTAGATGAAGTTGCTTTGCCAGTAAGGAAAAATAGTAATCTTTAAGAAAT
TGACTCATTGTTTAATTTCTGGGGATTTTCTTTATACTTCTAAGCAGGCTCTTATCTTTTATTGGACATAATATGATTTTGAAAAAGCACAGTGCCTGACACATTGCAAACACTCACCAACTGCTTGC
TGAGGTGACAGAGTCACAAAAGTCTGCATTCTTGTGCCTGATGATGCATTTTGCGTACCTCATACAGGCTCCTTGCCCACACTATGGAATGACAGCAGCCAGTGCAGGGAGGTTAAGTGACATTTAAT
GAGTGAAGCACTTAGCACTCTCTAGGTAATAAGATAGTGGTAATTACTAGTGTTTTGGCAAATGAAAAATGCCCTGAAATAGCCAAATGTCTGATTAATGTTGGCAACTTAGAAGTCCTATAATCCAA
CTACCAGCCAAAGCAGGGAGCCTTTCTATAATTTGCCTTTTTTTTTTTTTTTTTCAAAATCTGAGTCTTCTAAAATCTTATTATTCCCATTTTTACCAATTGAGGCTCCTGTAGCAAATAAGACCTCT
TGATATTTTCAAGGACTGGTTAGAGGATTTCTTTCAACCTTCACATGAACAAAACAGCCTATGGGTCAAAATAATGAAATCCACCCCTGCCTGCTAGATACTTGTCACCTTGCTAAAATGCAAGGGCC
TGGTCCATTCATTTTCCAAATGCAGGAGTCTTGGTGCACTTCTCACTCTTCCTGCCTGTTCATCTCTTTCATGCCCACACAGACCTGTTTCCTTTTTGTCTCATCAACGCCTCATTCATCCTCATTAC
TGAGGCGTGTCCAATGCTTTTTGACATCTTTATAGCAGTGCTGTTTCCTGGGCTCAGGAACCACACTGAGCTTGAGATACTGCTGGAAGGAACCATGTGGAGAGAAGGTTTGGGAGAACTTTGAGAGA
GACTTAGTTTGGCCCAGCATGTAAAACTTCAGTCCTGAACATTTATAGGGTTTTATAGAAGGGCATCCTCCAGGGCTGGTCCATTCAGAGAAATGCTGCATGCTGCCGTCATGGAATGTGGCCCACAG
GACACCAGAGCCGTGAGAACCGGAGAGCAGACTTCCCTCACGGCTGGGCTGAGCAAACCCTCCAAAGCCCTCCTCACGCAGTTACTAACAATAGCATGGGCTTACAGCACAAGCACGTGTTCTCACCT
TTTTCCTATGCCCTGGACTAAGGTTTGGCCAGTGTAATCATATAAGGCCATCCTGACATTGTTTCTGTGTTTCAAAATTTGGATTTTTATTTACATTAGAACTACATTGCTCCTAGTAGAACATTACC
TTTAGGGGACTAATTTTCCATGGAGAACTATTTCAGCATATTGCATGCTGCTCAGACCCCAAGTCAGATATGCCCACCAAGCCAGATGAAGCTACACAAATGTGGTATTTAAATGCATTTTGTACAGT
GACTTCAGAGTATCTCACATGACATGGGTGTAAACTGGCTGGGGAGAAAATGATGCTTGTTCACCTCTTCCTCCAGCCGTGGTTAGGTGGTCCTAGGGGTAGCAGAGGGAAGGGAGGATTTTGTGCAG
TCAAGATTTGCTTTTCCATCCTTGTCTTCTGAATGTCTAAAATCTCTGCATCTTTCTGAAGTTTAACAACTGTCTCCAGAGGTTTGCCAGGCAGCAGCTCTCAGAAGTTTCCAAAGCTTTGCAGAATC
TTAGATCTGGAATTAAAGAATTCAAGCCCGAATTGTGAGAACCAGATATTACTCAACAGAAAGCTCTTTCTAAGGAATCTGAGCTGTTCACTGGTGGACAGTGGTGGGGCTTGAGTGCTCCTTGTTAA
TAGGATGGGCCATGCACCCTCTCTGGATATTCACCAAGGCCTCTTCAGAATAGGGTTTGTTCTGGCTAGAAGCGTGGTCTAGAAGATGGCTAAGCTCTTTGCCAGCTCTCATTTGGAGTTTTATTATT
GCATAAAATCTTCGCTCACTCTGCAAATCTTACGTAATCTGGCACCTTCGGCACCAGGTGGTGCAGGGGCACTTCTAAGTGGGCTCTTTTTGTTACAGCACAACTCTCAGACAGTCCTGTGGGTCTTT
GGATTCGTCAGCATTCCAGCAAACTAGCCCTGCTTAGAAGTTAGCACAAGACAGCAGAATGCAGGACCCCGTAGGCAAAATCACAACCTTGCTATTAAAAAAAATTTTGTTTTACATACACATTTGCA
GGTGTTCCCTAGAGTGTGGTGTTTTGAATTTGCTCTTTGTCATCTGTATAATTGCCAAATGATTATAGTGATACACATGACCTGCATTCACTTTTTTCTAGTTTCCTTAATTATGTTTAGAATAAATT
CATTTCCCTAGACCGAGAACCACAAACAGGTAGTGTGGAGCATACACCGAATTTAGAAGCATGTGGATAAGGTCAGTGCTCACACTGCCTAGTCCACAGGGAGAGGATGCTGCATGAATATATACTTG
CCTCTGAGTGGAGGAGAAATCGTGGCATGAAAGAGAGAGTACCAGTGATGACTTCTTATCCCTGGAGCTGGGCTTTCACTGCTACCCATATCCCAGCCCTGCGAGTCTGTTCTAGCCAGCACAGACAC
CGCAGATCCGGAACTGAATGTTCCTAAATGGCGCAGCCAATCCAGGCTTTTCAGAAACTGGGCAAAAACATTAAAATGGGGACGATCGGGTCTTCCGCAGTGGTCCAACACAGGATTTCTTTTAAATG
TTTCAAAAACATGTCCTTAAAATTTCAGCCTGCTTCTTAGCGAGTGGGCCAGTTTTGCTTAAAACTGGTGGGGGGGCGGGGGGGAAGTTTTTAAAAATTGCCAAAAAGTTAGATGCAAATGTATTACT
GTATAAAGCAAAGCTGTATATACTAAACATTTTTTAGCAGAGTAATATTTATTTGCATAGTCTATTTATTGTATTCGTATCACACTGTTATTAAATACTGGGATGAAATCAGTGACCTGAAGCAAGAA
ATCTTGCCTTTTAATGTATCATTAATTAGGGCTGCTGTGATATTGTCAGCTTGCATTAACAATTAGAAGATAGAGAACCCGCCATCAGGGTGTCTACCTAACTTCTCAGGGACTACACTTGGTAGTTT
TCCACCATTTAAAGAACTGGTAAATATGAAACATTTGTTGAGTTACCAGAATTGCCATTAACAGTGTTTTCTTTCCCATATTCCATGCTTTCTGCCTCTGTGTATATATATAATATATATGTATATGA
CTGTGCTGTGTATTTATCGAAGCTAGTAAGCAATAATTTATATGTAAAAATGGCCAAGCAATATAAGGTTAAAACTTATATAAGTAACCCTTACCTTATCTTGTATTTTCAATTTTTTTTTAAAACTG
CTTTTCCAAATATGAGACTATGTTAAAGACACTATTCATGCCTCTTAGTTTCTTGCTTTCTCTGTGATGTGTGTGGATTAAATAGCTCTGTTCTGGCAGCA

hide sequence

RefSeq Acc Id:

NM_001367603 ⟹ NP_001354532

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,155,958 - 22,193,745 (-)	NCBI
T2T-CHM13v2.0	7	22,292,193 - 22,329,866 (-)	NCBI

Sequence:

show sequence

AGATGGACTCAGTTCCCAGTGAAAGGACAGGGATGGCAAGATCTTTTAGCATTTAGGGGATGCCTTTGTTAGTAACCGTTCACAATGGGCAGCTCCCGGCTGAGGGTCTTTGACCCTCATTTGGAGAG
GAAAGATTCCGCCGCGGCGCTCTCAGACCGAGAGCTGCCCTTGCCTACCTTCGATGTGCCTTATTTCAAATACATCGACGAGGAGGATGAGGACGATGAATGGAGCAGCCGCTCGCAGTCTTCCACCG
AGGATGACTCAGTGGACTCTCTGCTCTCTGACAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAGAGACC
CTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAG
GAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAAT
ATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAG
AACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAAGTGAGTATGGTTTGAAGTGAGGGTTTGGGGGTGGGCAGCAGTTAGCCACCATTTTTCTCCTACATTGGCATATCAGCCTGACTAA
CCTTCATTTCCAGCTGTCACCCCTCAGATAAGCACGTTAGCCTCAAACAGCATGGTTTTTCTTTTCTTTATTTGAGCATTATGGTTTTCTTAGATCACATAATACTGTCCCAAGCACCAAGGATACTT
ATAATTTGGGAAGCAAGGAAAGGAGACAATGCCTAGAGCCTCCTTGCATTCTTGAGAAGAGGTAAAAATGAACGGGAGACTCAGCCTTTTCCTCCTAGAACCATCTCCTCCCTGCCTTCATCAGCCCA
TTGTCTATGACTAACTGGAAGGATCACCAAAGTCAATGTGCAGATTTGGGCTGAGTCAGTCCATGACTCAGTCCACGAGAAGAAACTCCTGTGGAGAGAAGGCTGTACGGTAGAAGCTCCTGCAAGGC
CAGGCTGTGTGGGCAGTGCTGCCCATCTACTGTGTCCTCAGTCACTGCTTATTTGCGTGAAATAAGAAATATTACCAGTGGTTTTCTCCTTTTAGATAAAGATTGAGTCAAGCACAGAGCTGGAAAAC
ACAGCAAATTAAAATTTTAATGCAATTATAACTCACAGACTCTCTCTTTTGCCTCATCTTTCTTCATATGCTGAAATTCTGAGTGTGATCATTTAATATTTGCCCAATTTCTGGAACTTGTAAAAGAA
GTCACAAGGATGCTTATTACATTAGATAGTGTTTGCATATAATGCTGCTGATACATGGTTCTGTTGGCTCATATTAAGTGTCATCCGTACCAAGTGAAAGAGAAAATAAAATTATCTAACTTCCTAA

hide sequence

RefSeq Acc Id:

NM_012294 ⟹ NP_036426

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,357,154 (-)	NCBI
GRCh37	7	22,157,908 - 22,396,751 (-)	NCBI
Build 36	7	22,124,433 - 22,363,058 (-)	NCBI Archive
Celera	7	22,143,557 - 22,382,091 (-)	RGD
HuRef	7	22,043,471 - 22,243,092 (-)	RGD
CHM1_1	7	22,158,708 - 22,397,156 (-)	NCBI
T2T-CHM13v2.0	7	22,254,475 - 22,493,270 (-)	NCBI
CRA_TCAGchr7v2	7	22,209,210 - 22,447,742 (-)	ENTREZGENE

Sequence:

show sequence

AGTCGCGCCCTCTCGCTTCCTGGCGAAGGCGCGGACGGCGCGCGGAGGCGAGCGCGGTGGAGAGGAGCCCCCGGCGCCGCAGCGCCGTCAGGGCATGAGGATGGCCGTGGGCTCCGTCAAGATGCAGC
CGCCGTGCGAGAGCCCGGCCCTGGCCGCCGCGGCGGCGGTGGTGGCGGCAGACGGCCCCCTGCGCCGCAGCCCCAGCGCCCGGGAGCCCGAGCGCGAGCAGCCGCCGGCGTCGCTGCGGCCGCGGCTG
AGGGACCTGCCCGCGCTGCTGCGGAGCGGGCTCACGCTGCGGAGGAAGCGGAGCGCCGCTGGGGGCCGGACTCTATCAAGAAGAATATCTAATCCGTACCTTGAACATACGCCTTCCCAGATTTATGG
AGAGAATTCTTCTTGTGCAGGAAGAGCATTGAGGAATATTATTATCGTTCAAGCAGCTGACCTGATAAAGGACAGAGTGAACCTCAAGGGGTTTTACAGGAGGAGCTGCGTTGGGTCAGAGCTGGTAG
ACTGGCTTCTAGAACACTGTCCTTTCGTCCAGTGCAGATCTATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAATTATGTTATCAGTGGACCAGCATCTATACTTTCAAGATACTTATGTT
TTCTACCAGTTTTCCTCTGATGAATGTAGCTACTTGTACTGTGAATTTGAAAGAGAAGAAGAATGGCAAAATGGTGTCAAGCTTTTACTGCAACTTGTGCCTCTCATTCCTGCCAGAGGTGGCATCTG
TGAACTGTCTCATCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTTGTGCGTCTAACATCTGCGGTGCAGAGAGAGCTAGCAGCTGTTATTGCTTTGAAAGCAAGGAAGTCTGCAATTG
AACAAGATGAAGAAAACAACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTCTCAGGCAGGGGTGATGTGCAAGCTCCAGGAAAGAGATGAAATCGGACGAATTGAACTAGTCCAG
AAGCTGGCAAAAGAAAACTATCAGTTTTTGCAGACGGACAAAAAAGAACAGGAGAAGTCTGAACACCAAGATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTGCTGAA
GAAAGTGCAGTGCTGTGGCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAG
TCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAG
GAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAA
TGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTT
TCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGT
ATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAA
ATCCCTCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATC
TTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAG
AGATGCAATGAGGTCCAGCTTTGGGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAACCTGAA
TTCTTTCTTTGCCATTGTGATGGGTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCCTTCCC
TAAATCACAAAGCCTACAGAGATGCATTCAAAAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGATGTAACATTTATTCATGAAGGAAATAAAACTTTTTTGGATAATCTTGTC
AATTTTGAAAAGCTGCATATGATCGCAGACACTGTCCGAACCCTGAGACACTGCAGGACTAACCAGTTTGGTGACCTGTCTCCAAAAGAGCATCAAGAGTTAAAGTCCTATGTTAATCACCTGTATGT
CATTGACAGCCAGCAGGCTCTGTTTGAGCTCTCACACAGGATCGAGCCTCGGGTGTGAGCCCCACTGCCTCACCTCCCCTGTATCTGCAGCACTTTGAGCTACGGGAATGTCTATGCCAAGCACGTTG
CTTTCCTGTGAGAAAAGAAGTTGCTGAGTTTTATCAGTATAACCCAAGACATTCACAGGAAAGCCAGCCAAAGCGTGTTCAGGAAGTGATGTCAGCCACCAGAGAGGGGGAGAGGTTTCTCCATGCTA
CTCTCGGGACAAGAAGGCAGAAGGAGAGTCAGAAGCATTCTTGAGATGGAGAAGGCTGGTTTCTTATGATCACATTGTTGATCCAGTCCAGTTTTCAATATGAGATGTGCCAGCATCAAGACAAGACA
ACGTCTTGACATGCAATGACCAAATATTTCATTAAGAGCGTGCATGAAACAGGAAGGAGTTTTTACTTTGCCTAGTTTTAGATTACTGTCCATAAGCTGTCAAAGAAGTCATTCTTTTGAACACCTGA
TGACAGAGACAGCATCTCTAGATCTCCAGGGAGGAGAGGTTTCTGTTGATACAACCTGTGACATCACCAAAAGCCACTTGTGTCTAGGGAGTTAGTGAGGACTGCAGCTAGCATCCATGCTCTGATGG
GCAGATGAACAATGTCAAGGTGTGCATCACTTTGCACCACAATCAACTATTGACACATGCTTGCAGGTGAAATTAGTTTCTGTACAACTGATTTGCAGCTATAGGCAAGGTAGATGAAGTTGCTTTGC
CAGTAAGGAAAAATAGTAATCTTTAAGAAATTGACTCATTGTTTAATTTCTGGGGATTTTCTTTATACTTCTAAGCAGGCTCTTATCTTTTATTGGACATAATATGATTTTGAAAAAGCACAGTGCCT
GACACATTGCAAACACTCACCAACTGCTTGCTGAGGTGACAGAGTCACAAAAGTCTGCATTCTTGTGCCTGATGATGCATTTTGCGTACCTCATACAGGCTCCTTGCCCACACTATGGAATGACAGCA
GCCAGTGCAGGGAGGTTAAGTGACATTTAATGAGTGAAGCACTTAGCACTCTCTAGGTAATAAGATAGTGGTAATTACTAGTGTTTTGGCAAATGAAAAATGCCCTGAAATAGCCAAATGTCTGATTA
ATGTTGGCAACTTAGAAGTCCTATAATCCAACTACCAGCCAAAGCAGGGAGCCTTTCTATAATTTGCCTTTTTTTTTTTTTTTTTCAAAATCTGAGTCTTCTAAAATCTTATTATTCCCATTTTTACC
AATTGAGGCTCCTGTAGCAAATAAGACCTCTTGATATTTTCAAGGACTGGTTAGAGGATTTCTTTCAACCTTCACATGAACAAAACAGCCTATGGGTCAAAATAATGAAATCCACCCCTGCCTGCTAG
ATACTTGTCACCTTGCTAAAATGCAAGGGCCTGGTCCATTCATTTTCCAAATGCAGGAGTCTTGGTGCACTTCTCACTCTTCCTGCCTGTTCATCTCTTTCATGCCCACACAGACCTGTTTCCTTTTT
GTCTCATCAACGCCTCATTCATCCTCATTACTGAGGCGTGTCCAATGCTTTTTGACATCTTTATAGCAGTGCTGTTTCCTGGGCTCAGGAACCACACTGAGCTTGAGATACTGCTGGAAGGAACCATG
TGGAGAGAAGGTTTGGGAGAACTTTGAGAGAGACTTAGTTTGGCCCAGCATGTAAAACTTCAGTCCTGAACATTTATAGGGTTTTATAGAAGGGCATCCTCCAGGGCTGGTCCATTCAGAGAAATGCT
GCATGCTGCCGTCATGGAATGTGGCCCACAGGACACCAGAGCCGTGAGAACCGGAGAGCAGACTTCCCTCACGGCTGGGCTGAGCAAACCCTCCAAAGCCCTCCTCACGCAGTTACTAACAATAGCAT
GGGCTTACAGCACAAGCACGTGTTCTCACCTTTTTCCTATGCCCTGGACTAAGGTTTGGCCAGTGTAATCATATAAGGCCATCCTGACATTGTTTCTGTGTTTCAAAATTTGGATTTTTATTTACATT
AGAACTACATTGCTCCTAGTAGAACATTACCTTTAGGGGACTAATTTTCCATGGAGAACTATTTCAGCATATTGCATGCTGCTCAGACCCCAAGTCAGATATGCCCACCAAGCCAGATGAAGCTACAC
AAATGTGGTATTTAAATGCATTTTGTACAGTGACTTCAGAGTATCTCACATGACATGGGTGTAAACTGGCTGGGGAGAAAATGATGCTTGTTCACCTCTTCCTCCAGCCGTGGTTAGGTGGTCCTAGG
GGTAGCAGAGGGAAGGGAGGATTTTGTGCAGTCAAGATTTGCTTTTCCATCCTTGTCTTCTGAATGTCTAAAATCTCTGCATCTTTCTGAAGTTTAACAACTGTCTCCAGAGGTTTGCCAGGCAGCAG
CTCTCAGAAGTTTCCAAAGCTTTGCAGAATCTTAGATCTGGAATTAAAGAATTCAAGCCCGAATTGTGAGAACCAGATATTACTCAACAGAAAGCTCTTTCTAAGGAATCTGAGCTGTTCACTGGTGG
ACAGTGGTGGGGCTTGAGTGCTCCTTGTTAATAGGATGGGCCATGCACCCTCTCTGGATATTCACCAAGGCCTCTTCAGAATAGGGTTTGTTCTGGCTAGAAGCGTGGTCTAGAAGATGGCTAAGCTC
TTTGCCAGCTCTCATTTGGAGTTTTATTATTGCATAAAATCTTCGCTCACTCTGCAAATCTTACGTAATCTGGCACCTTCGGCACCAGGTGGTGCAGGGGCACTTCTAAGTGGGCTCTTTTTGTTACA
GCACAACTCTCAGACAGTCCTGTGGGTCTTTGGATTCGTCAGCATTCCAGCAAACTAGCCCTGCTTAGAAGTTAGCACAAGACAGCAGAATGCAGGACCCCGTAGGCAAAATCACAACCTTGCTATTA
AAAAAAATTTTGTTTTACATACACATTTGCAGGTGTTCCCTAGAGTGTGGTGTTTTGAATTTGCTCTTTGTCATCTGTATAATTGCCAAATGATTATAGTGATACACATGACCTGCATTCACTTTTTT
CTAGTTTCCTTAATTATGTTTAGAATAAATTCATTTCCCTAGACCGAGAACCACAAACAGGTAGTGTGGAGCATACACCGAATTTAGAAGCATGTGGATAAGGTCAGTGCTCACACTGCCTAGTCCAC
AGGGAGAGGATGCTGCATGAATATATACTTGCCTCTGAGTGGAGGAGAAATCGTGGCATGAAAGAGAGAGTACCAGTGATGACTTCTTATCCCTGGAGCTGGGCTTTCACTGCTACCCATATCCCAGC
CCTGCGAGTCTGTTCTAGCCAGCACAGACACCGCAGATCCGGAACTGAATGTTCCTAAATGGCGCAGCCAATCCAGGCTTTTCAGAAACTGGGCAAAAACATTAAAATGGGGACGATCGGGTCTTCCG
CAGTGGTCCAACACAGGATTTCTTTTAAATGTTTCAAAAACATGTCCTTAAAATTTCAGCCTGCTTCTTAGCGAGTGGGCCAGTTTTGCTTAAAACTGGTGGGGGGGCGGGGGGGAAGTTTTTAAAAA
TTGCCAAAAAGTTAGATGCAAATGTATTACTGTATAAAGCAAAGCTGTATATACTAAACATTTTTTAGCAGAGTAATATTTATTTGCATAGTCTATTTATTGTATTCGTATCACACTGTTATTAAATA
CTGGGATGAAATCAGTGACCTGAAGCAAGAAATCTTGCCTTTTAATGTATCATTAATTAGGGCTGCTGTGATATTGTCAGCTTGCATTAACAATTAGAAGATAGAGAACCCGCCATCAGGGTGTCTAC
CTAACTTCTCAGGGACTACACTTGGTAGTTTTCCACCATTTAAAGAACTGGTAAATATGAAACATTTGTTGAGTTACCAGAATTGCCATTAACAGTGTTTTCTTTCCCATATTCCATGCTTTCTGCCT
CTGTGTATATATATAATATATATGTATATGACTGTGCTGTGTATTTATCGAAGCTAGTAAGCAATAATTTATATGTAAAAATGGCCAAGCAATATAAGGTTAAAACTTATATAAGTAACCCTTACCTT
ATCTTGTATTTTCAATTTTTTTTTAAAACTGCTTTTCCAAATATGAGACTATGTTAAAGACACTATTCATGCCTCTTAGTTTCTTGCTTTCTCTGTGATGTGTGTGGATTAAATAGCTCTGTTCTGGC
AGCA

hide sequence

RefSeq Acc Id:

XM_011515652 ⟹ XP_011513954

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,219,147 (-)	NCBI

Sequence:

show sequence

AGCTAATTTTTTGGTATTTTTGTAGAGACAAGGCCTCACTATGTTGCCCAGGCTGGTCTCCAAC
TCCTTAGCTCTGGAAATCCTCCCAACTCACCCTCCTAAAGTGCTGGGACTATAAGCATTAGCCACTGAGATTGGCCTCACTTGGATTTTTTAATATAGCTGTGATTTATTTTTGTAATGTAAGATTTC
TTGATCAACTATCACATGCATAATTTTTCTTCAGTTAATTTACTATTTTATTACTAGCATCAAAGACATTCATTTTATTCTGGAAGAATTGAAATTCTGTGATGAACAAACTACCTCCCAAGTTAATA
TGTTGAGTGCTGATTTAGTAAATCACTTTACCTCTCTGAGCTTCAGTCTTCTCATCTAATAAATTAAGATATTAGATGTCTAAGATTTCTTCTAGCTCTAAAATTCCTTTCTTAACTTGAAGACACCC
TTCCCCCCAGATTCTGCAATATCCATGCTTTTGAGTGTTGAACTCTTTCTGGGAAAATGTCACCATTTTATAAAGGATACCAATTGATTACTCAGGAAGTTCTGAGTAGCTCTTTTTTCACTCTGATT
GAATATGTCTATCAATGCCAAGAATCATTCTGTTCTTTTATGTTCTAAAAATACTCCAGTGGATAGAACTTCTAAAAATTTACTCTGTGAAATGGTGTTGATACAGGACAGATGGCTGATCTAGCATA
TCCAGCTAGAAGTGTCTGTTATCAGGACATTAAAATGATATTTCAAGTCAAGTCATTAAATATTTGGAATTGTTTCTCTGAGATCAGAATGTCCTGAGGAGGATCAAAATCTGGAATTCCCAAATCTC
TGCAGTGAAGGAAATGCTAGCTCTTACTGCCTTGAACTCTTAGAAATACCAAGAAAGTAACCTAGTTCTTGATGTTGGCTAGGTTCATTAGCTGCTACCCACAGCCTAGCTCCAAATTACTGTTTTTA
AAACATGCAGATTTTTGTCTCTTACATGTCTATCTGTCACGTGAAGAATTTACTCTTTGAGAGCATGCCTATATTTTATTTGAACTTTTATCCCCAGTGTTTAGCACTAGGCTTTCAGTCAGTGTTTG
TGGAACTGGAGCTGATAGAGAAGGAAATTGTGGGTGGTTTGAGATGTTTCCCACAGTCGAGTACTTCAAATCACATCTGTAAAAATCCAAAGTTTTACCAGCTTCAGGATTCCAGTTCATTGGATATT
TAAAGTTTTAAATAAGAAGTTTTCTACCTTAGAGAATTAACCTGGAAATGATAAGCAGAAAAGGCAGGAAGGTTCATCACCGGTAGTCACTTTGTAATACAGAAAAGTCTTTGGAAGAATCCATCCCT
GGTAAAGAGTGGATGCAGACGTTCAGACTTTAATGGATCACAGGTTGTGGAGCAAAGATCTTACCTGGGCAGGTTTGTACGTGAGGATTTTGACCTTCTTTGGCCCTCCAGGTGCACATTAATATTCA
GGAAAAGAGAATTTGTTTTTCATATGTGTTATCACTTTAATATTAATTCCTCACTTAAATACTAATTCCTTTTTTGTTCCCCCAGTCTGTCCTCCTCTTCTCTCCACACCTATTCCCTCCCTTGGAAA
AAAAGGCAGGAGAGATCTACCCCTATGCAAGCAAATTCATCTTTGTCTTATTTTAACCTTCGCTCTTCCTTTTTACCTTCTGGTTTTTTGTTTACTTTTTTGCTTGCCTCTCAAATCATTTTAGCAAT
ATTTCATTACATCTTACATTCTCTTAACCTATTTTTAATACCAACTTCCTGTTACTGTTCCATGCACCAAGAGTGCCACTTTGTCTACCTTTATCCCAACCTTGTTTCAAACTGTGAAATGAAGTTTC
TGAGATGGCTACAGCAGAGACCAAAGGCGTGCCTCCCTAAAAACACCAAGGAATGTACAAAACATGAAAAAACAGGAGTGTTTACTTAAGATGCTTTGTATCTCCTCACTCTCATTCCATGTGATCTG
GCAGCTGCTACAGTAGCTAGAAATTTTTCATTCCATAACTTGCATAAATACTGAAACTCCCCCTTTGGATTGCTACTTTGCCCTCATGGAAGTTCCACAGGCATGCGTGCACACACACACAAGCATTT
CCTCACGTACACACATGCAGATGCTCATTGACACACACGCACAGGAAATTTGGGAAGAGTGATAGAGTTCTTTGACTTGAAGCCTTTCAATTTTTTAGAGTTTATTTCCTTTTTAAGTTTGAAGAATA
CTTCTGCTGGGTCTGCTCAGACATAAGAACTAGCTTTTTCAAATAATTTCAGTTTATGAATTAGTTCTTCACTGAGTCAGGAGGTATCAAACACAACTAAGTTTCAGATCCTATGGGAGGAATTTGAG
AGGAGAAGTCAAAGCCATAGGAACCAGTCAGGGCTAGCTATTTTATGCTGCTCTGAAAAGTCATGTTATCCTCTTGTTGTTCAGTTGTAAAGGCTTCTGTAAAACTGCTGCCATGGATTATTCAAACC
CCACGGGACAAATATATCTGCAACCAGAATGTAGAAACTTTAATCATAATTTAGTGTAGGTTTCTGTCCTACCTTTGGGCTGCTAGTGAAAAGCAGTGATTCGGGTTACTGGCAATTTTTTTCCCTTT
CTTCTTCTACATTTCAGGAAATGCTTAAGGATCTAATTTAGATTTCTGCATCCTCATTTCTTCCGACGTGATCTCAAATAGGCCTCTGTCAGGTCATGTGTGCACACTGTACCATGCCTCAGTTGCCC
GTTGACCCAGGCTGCTTGGTTTCAGGGAACTGAGGCACTGCTGAGGAGCCCTGGTCCACAGCATGCAGGTGCAAGATGATGAAGTGACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTG
CTGAAGAAAGTGCAGTGCTGTGGCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGACCCCGGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGA
AGAAGTCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCCAGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCA
AAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATAT
AGGAATGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGC
CCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTT
CCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATC
TCCAAATCCCTCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTG
GGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGC
TCCAGAGATGCAATGAGGTCCAGCTTTGGGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAAC
CTGAATTCTTTCTTTGCCATTGTGATGGGTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCC
TTCCCTAAATCACAAAGCCTACAGAGATGCATTCAAAAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGATGTAACATTTATTCATGAAGGAAATAAAACTTTTTTGGATAATC
TTGTCAATTTTGAAAAGCTGCATATGATCGCAGACACTGTCCGAACCCTGAGACACTGCAGGACTAACCAGTTTGGTGACCTGTCTCCAAAAGAGCATCAAGAGTTAAAGTCCTATGTTAATCACCTG
TATGTCATTGACAGCCAGCAGGCTCTGTTTGAGCTCTCACACAGGATCGAGCCTCGGGTGTGAGCCCCACTGCCTCACCTCCCCTGTATCTGCAGCACTTTGAGCTACGGGAATGTCTATGCCAAGCA
CGTTGCTTTCCTGTGAGAAAAGAAGTTGCTGAGTTTTATCAGTATAACCCAAGACATTCACAGGAAAGCCAGCCAAAGCGTGTTCAGGAAGTGATGTCAGCCACCAGAGAGGGGGAGAGGTTTCTCCA
TGCTACTCTCGGGACAAGAAGGCAGAAGGAGAGTCAGAAGCATTCTTGAGATGGAGAAGGCTGGTTTCTTATGATCACATTGTTGATCCAGTCCAGTTTTCAATATGAGATGTGCCAGCATCAAGACA
AGACAACGTCTTGACATGCAATGACCAAATATTTCATTAAGAGCGTGCATGAAACAGGAAGGAGTTTTTACTTTGCCTAGTTTTAGATTACTGTCCATAAGCTGTCAAAGAAGTCATTCTTTTGAACA
CCTGATGACAGAGACAGCATCTCTAGATCTCCAGGGAGGAGAGGTTTCTGTTGATACAACCTGTGACATCACCAAAAGCCACTTGTGTCTAGGGAGTTAGTGAGGACTGCAGCTAGCATCCATGCTCT
GATGGGCAGATGAACAATGTCAAGGTGTGCATCACTTTGCACCACAATCAACTATTGACACATGCTTGCAGGTGAAATTAGTTTCTGTACAACTGATTTGCAGCTATAGGCAAGGTAGATGAAGTTGC
TTTGCCAGTAAGGAAAAATAGTAATCTTTAAGAAATTGACTCATTGTTTAATTTCTGGGGATTTTCTTTATACTTCTAAGCAGGCTCTTATCTTTTATTGGACATAATATGATTTTGAAAAAGCACAG
TGCCTGACACATTGCAAACACTCACCAACTGCTTGCTGAGGTGACAGAGTCACAAAAGTCTGCATTCTTGTGCCTGATGATGCATTTTGCGTACCTCATACAGGCTCCTTGCCCACACTATGGAATGA
CAGCAGCCAGTGCAGGGAGGTTAAGTGACATTTAATGAGTGAAGCACTTAGCACTCTCTAGGTAATAAGATAGTGGTAATTACTAGTGTTTTGGCAAATGAAAAATGCCCTGAAATAGCCAAATGTCT
GATTAATGTTGGCAACTTAGAAGTCCTATAATCCAACTACCAGCCAAAGCAGGGAGCCTTTCTATAATTTGCCTTTTTTTTTTTTTTTTTCAAAATCTGAGTCTTCTAAAATCTTATTATTCCCATTT
TTACCAATTGAGGCTCCTGTAGCAAATAAGACCTCTTGATATTTTCAAGGACTGGTTAGAGGATTTCTTTCAACCTTCACATGAACAAAACAGCCTATGGGTCAAAATAATGAAATCCACCCCTGCCT
GCTAGATACTTGTCACCTTGCTAAAATGCAAGGGCCTGGTCCATTCATTTTCCAAATGCAGGAGTCTTGGTGCACTTCTCACTCTTCCTGCCTGTTCATCTCTTTCATGCCCACACAGACCTGTTTCC
TTTTTGTCTCATCAACGCCTCATTCATCCTCATTACTGAGGCGTGTCCAATGCTTTTTGACATCTTTATAGCAGTGCTGTTTCCTGGGCTCAGGAACCACACTGAGCTTGAGATACTGCTGGAAGGAA
CCATGTGGAGAGAAGGTTTGGGAGAACTTTGAGAGAGACTTAGTTTGGCCCAGCATGTAAAACTTCAGTCCTGAACATTTATAGGGTTTTATAGAAGGGCATCCTCCAGGGCTGGTCCATTCAGAGAA
ATGCTGCATGCTGCCGTCATGGAATGTGGCCCACAGGACACCAGAGCCGTGAGAACCGGAGAGCAGACTTCCCTCACGGCTGGGCTGAGCAAACCCTCCAAAGCCCTCCTCACGCAGTTACTAACAAT
AGCATGGGCTTACAGCACAAGCACGTGTTCTCACCTTTTTCCTATGCCCTGGACTAAGGTTTGGCCAGTGTAATCATATAAGGCCATCCTGACATTGTTTCTGTGTTTCAAAATTTGGATTTTTATTT
ACATTAGAACTACATTGCTCCTAGTAGAACATTACCTTTAGGGGACTAATTTTCCATGGAGAACTATTTCAGCATATTGCATGCTGCTCAGACCCCAAGTCAGATATGCCCACCAAGCCAGATGAAGC
TACACAAATGTGGTATTTAAATGCATTTTGTACAGTGACTTCAGAGTATCTCACATGACATGGGTGTAAACTGGCTGGGGAGAAAATGATGCTTGTTCACCTCTTCCTCCAGCCGTGGTTAGGTGGTC
CTAGGGGTAGCAGAGGGAAGGGAGGATTTTGTGCAGTCAAGATTTGCTTTTCCATCCTTGTCTTCTGAATGTCTAAAATCTCTGCATCTTTCTGAAGTTTAACAACTGTCTCCAGAGGTTTGCCAGGC
AGCAGCTCTCAGAAGTTTCCAAAGCTTTGCAGAATCTTAGATCTGGAATTAAAGAATTCAAGCCCGAATTGTGAGAACCAGATATTACTCAACAGAAAGCTCTTTCTAAGGAATCTGAGCTGTTCACT
GGTGGACAGTGGTGGGGCTTGAGTGCTCCTTGTTAATAGGATGGGCCATGCACCCTCTCTGGATATTCACCAAGGCCTCTTCAGAATAGGGTTTGTTCTGGCTAGAAGCGTGGTCTAGAAGATGGCTA
AGCTCTTTGCCAGCTCTCATTTGGAGTTTTATTATTGCATAAAATCTTCGCTCACTCTGCAAATCTTACGTAATCTGGCACCTTCGGCACCAGGTGGTGCAGGGGCACTTCTAAGTGGGCTCTTTTTG
TTACAGCACAACTCTCAGACAGTCCTGTGGGTCTTTGGATTCGTCAGCATTCCAGCAAACTAGCCCTGCTTAGAAGTTAGCACAAGACAGCAGAATGCAGGACCCCGTAGGCAAAATCACAACCTTGC
TATTAAAAAAAATTTTGTTTTACATACACATTTGCAGGTGTTCCCTAGAGTGTGGTGTTTTGAATTTGCTCTTTGTCATCTGTATAATTGCCAAATGATTATAGTGATACACATGACCTGCATTCACT
TTTTTCTAGTTTCCTTAATTATGTTTAGAATAAATTCATTTCCCTAGACCGAGAACCACAAACAGGTAGTGTGGAGCATACACCGAATTTAGAAGCATGTGGATAAGGTCAGTGCTCACACTGCCTAG
TCCACAGGGAGAGGATGCTGCATGAATATATACTTGCCTCTGAGTGGAGGAGAAATCGTGGCATGAAAGAGAGAGTACCAGTGATGACTTCTTATCCCTGGAGCTGGGCTTTCACTGCTACCCATATC
CCAGCCCTGCGAGTCTGTTCTAGCCAGCACAGACACCGCAGATCCGGAACTGAATGTTCCTAAATGGCGCAGCCAATCCAGGCTTTTCAGAAACTGGGCAAAAACATTAAAATGGGGACGATCGGGTC
TTCCGCAGTGGTCCAACACAGGATTTCTTTTAAATGTTTCAAAAACATGTCCTTAAAATTTCAGCCTGCTTCTTAGCGAGTGGGCCAGTTTTGCTTAAAACTGGTGGGGGGGCGGGGGGGAAGTTTTT
AAAAATTGCCAAAAAGTTAGATGCAAATGTATTACTGTATAAAGCAAAGCTGTATATACTAAACATTTTTTAGCAGAGTAATATTTATTTGCATAGTCTATTTATTGTATTCGTATCACACTGTTATT
AAATACTGGGATGAAATCAGTGACCTGAAGCAAGAAATCTTGCCTTTTAATGTATCATTAATTAGGGCTGCTGTGATATTGTCAGCTTGCATTAACAATTAGAAGATAGAGAACCCGCCATCAGGGTG
TCTACCTAACTTCTCAGGGACTACACTTGGTAGTTTTCCACCATTTAAAGAACTGGTAAATATGAAACATTTGTTGAGTTACCAGAATTGCCATTAACAGTGTTTTCTTTCCCATATTCCATGCTTTC
TGCCTCTGTGTATATATATAATATATATGTATATGACTGTGCTGTGTATTTATCGAAGCTAGTAAGCAATAATTTATATGTAAAAATGGCCAAGCAATATAAGGTTAAAACTTATATAAGTAACCCTT
ACCTTATCTTGTATTTTCAATTTTTTTTTAAAACTGCTTTTCCAAATATGAGACTATGTTAAAGACACTA

hide sequence

RefSeq Acc Id:

XM_017012837 ⟹ XP_016868326

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,314,717 (-)	NCBI

Sequence:

show sequence

TAAGCCACACCAAATGATACCAAAACTATGAAAGAAAACAAAAAGAAAAACCACTACCATTTGTTATCACTATTCTATTTCAAAGAAATGACGTGCAATACCCATCAAGAGTAAGAAGAGGACTCAGG
ATTCATGACACCCAAAAAGAGGAGCTGCGTTGGGTCAGAGCTGGTAGACTGGCTTCTAGAACACTGTCCTTTCGTCCAGTGCAGATCTATGGCCATAGGAGTCTGGCAACTCCTACTGGACATGGGAA
TTATGTTATCAGTGGACCAGCATCTATACTTTCAAGATACTTATGTTTTCTACCAGTTTTCCTCTGATGAATGTAGCTACTTGTACTGTGAATTTGAAAGAGAAGAAGAATGGCAAAATGGTGTCAAG
CTTTTACTGCAACTTGTGCCTCTCATTCCTGCCAGAGGTGGCATCTGTGAACTGTCTCATCAGAAAATTGAAGACTCCGAAGAAAGCAGTGATGAAATTCTTGTGCGTCTAACATCTGCGGTGCAGAG
AGAGCTAGCAGCTGTTATTGCTTTGAAAGCAAGGAAGTCTGCAATTGAACAAGATGAAGAAAACAACGACAAACATGTAGCTGTAACAGAAGCCGAAAGTGTTCCAGATTCTCAGGCAGGGGTGATGT
GCAAGCTCCAGGAAAGAGATGAAATCGGACGAATTGAACTAGTCCAGAAGCTGGCAAAAGAAAACTATCAGTTTTTGCAGACGGACAAAAAAGAACAGGAGAAGTCTGAACACCAAGATGATGAAGTG
ACGACTGTTCAGGTTAAAGAGCAAGACCAGAGCGTCCTGGTGCTGAAGAAAGTGCAGTGCTGTGGCCCAGCCCCCACAGCTGGGAGTGCGGAGAGCCATTGGAGATATGTGGTGGTGTCCGGGACCCC
GGAGAAGATTTTGGAGCACCTTTTGAATGACTTGCACCTGGAAGAAGTCCAGGACAAAGAAACAGAGACCCTCCTGGATGACTTCCTTCTCACGTACACTGTCTTCATGACAACTGATGACTTGTGCC
AGGCTCTGTTAAGGCACTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTA
CCTGAAGATGAACATTCAAAAATGTTTTTAAAGACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCG
TCACACTGTAGATGAATATTCACCACAAAAAAAGAATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAATTTTCTGCCACGTGT
ATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTC
TCTGGGGAAAAGCATGAACTTCAGCCAAATGACTTAGTCATCTCCAAATCCCTCGAGGCATCTGGTCGAATATATGTCTACCGGAAAGACCTGGCGGACACTTTGAACCCATTTGCAGAAAATGAGGA
ATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAGCAAGAGCTGATCTACTTCACGTTCAGCA
GACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAGAGATGCAATGAGGTCCAGCTTTGGGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAA
AAATTCATCAAAATTGCGGCTCACTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGGGTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAGAAAATCCCTGGGAA
GTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACAGATCCTTCCCTAAATCACAAAGCCTACAGAGATGCATTCAAAAAGATGAAGCCACCAAAAATCCCTTTCATGCCCTTATTGCTTAAAGATG
TAACATTTATTCATGAAGGAAATAAAACTTTTTTGGATAATCTTGTCAATTTTGAAAAGCTGCATATGATCGCAGACACTGTCCGAACCCTGAGACACTGCAGGACTAACCAGTTTGGTGACCTGTCT
CCAAAAGAGCATCAAGAGTTAAAGTCCTATGTTAATCACCTGTATGTCATTGACAGCCAGCAGGCTCTGTTTGAGCTCTCACACAGGATCGAGCCTCGGGTGTGAGCCCCACTGCCTCACCTCCCCTG
TATCTGCAGCACTTTGAGCTACGGGAATGTCTATGCCAAGCACGTTGCTTTCCTGTGAGAAAAGAAGTTGCTGAGTTTTATCAGTATAACCCAAGACATTCACAGGAAAGCCAGCCAAAGCGTGTTCA
GGAAGTGATGTCAGCCACCAGAGAGGGGGAGAGGTTTCTCCATGCTACTCTCGGGACAAGAAGGCAGAAGGAGAGTCAGAAGCATTCTTGAGATGGAGAAGGCTGGTTTCTTATGATCACATTGTTGA
TCCAGTCCAGTTTTCAATATGAGATGTGCCAGCATCAAGACAAGACAACGTCTTGACATGCAATGACCAAATATTTCATTAAGAGCGTGCATGAAACAGGAAGGAGTTTTTACTTTGCCTAGTTTTAG
ATTACTGTCCATAAGCTGTCAAAGAAGTCATTCTTTTGAACACCTGATGACAGAGACAGCATCTCTAGATCTCCAGGGAGGAGAGGTTTCTGTTGATACAACCTGTGACATCACCAAAAGCCACTTGT
GTCTAGGGAGTTAGTGAGGACTGCAGCTAGCATCCATGCTCTGATGGGCAGATGAACAATGTCAAGGTGTGCATCACTTTGCACCACAATCAACTATTGACACATGCTTGCAGGTGAAATTAGTTTCT
GTACAACTGATTTGCAGCTATAGGCAAGGTAGATGAAGTTGCTTTGCCAGTAAGGAAAAATAGTAATCTTTAAGAAATTGACTCATTGTTTAATTTCTGGGGATTTTCTTTATACTTCTAAGCAGGCT
CTTATCTTTTATTGGACATAATATGATTTTGAAAAAGCACAGTGCCTGACACATTGCAAACACTCACCAACTGCTTGCTGAGGTGACAGAGTCACAAAAGTCTGCATTCTTGTGCCTGATGATGCATT
TTGCGTACCTCATACAGGCTCCTTGCCCACACTATGGAATGACAGCAGCCAGTGCAGGGAGGTTAAGTGACATTTAATGAGTGAAGCACTTAGCACTCTCTAGGTAATAAGATAGTGGTAATTACTAG
TGTTTTGGCAAATGAAAAATGCCCTGAAATAGCCAAATGTCTGATTAATGTTGGCAACTTAGAAGTCCTATAATCCAACTACCAGCCAAAGCAGGGAGCCTTTCTATAATTTGCCTTTTTTTTTTTTT
TTTTCAAAATCTGAGTCTTCTAAAATCTTATTATTCCCATTTTTACCAATTGAGGCTCCTGTAGCAAATAAGACCTCTTGATATTTTCAAGGACTGGTTAGAGGATTTCTTTCAACCTTCACATGAAC
AAAACAGCCTATGGGTCAAAATAATGAAATCCACCCCTGCCTGCTAGATACTTGTCACCTTGCTAAAATGCAAGGGCCTGGTCCATTCATTTTCCAAATGCAGGAGTCTTGGTGCACTTCTCACTCTT
CCTGCCTGTTCATCTCTTTCATGCCCACACAGACCTGTTTCCTTTTTGTCTCATCAACGCCTCATTCATCCTCATTACTGAGGCGTGTCCAATGCTTTTTGACATCTTTATAGCAGTGCTGTTTCCTG
GGCTCAGGAACCACACTGAGCTTGAGATACTGCTGGAAGGAACCATGTGGAGAGAAGGTTTGGGAGAACTTTGAGAGAGACTTAGTTTGGCCCAGCATGTAAAACTTCAGTCCTGAACATTTATAGGG
TTTTATAGAAGGGCATCCTCCAGGGCTGGTCCATTCAGAGAAATGCTGCATGCTGCCGTCATGGAATGTGGCCCACAGGACACCAGAGCCGTGAGAACCGGAGAGCAGACTTCCCTCACGGCTGGGCT
GAGCAAACCCTCCAAAGCCCTCCTCACGCAGTTACTAACAATAGCATGGGCTTACAGCACAAGCACGTGTTCTCACCTTTTTCCTATGCCCTGGACTAAGGTTTGGCCAGTGTAATCATATAAGGCCA
TCCTGACATTGTTTCTGTGTTTCAAAATTTGGATTTTTATTTACATTAGAACTACATTGCTCCTAGTAGAACATTACCTTTAGGGGACTAATTTTCCATGGAGAACTATTTCAGCATATTGCATGCTG
CTCAGACCCCAAGTCAGATATGCCCACCAAGCCAGATGAAGCTACACAAATGTGGTATTTAAATGCATTTTGTACAGTGACTTCAGAGTATCTCACATGACATGGGTGTAAACTGGCTGGGGAGAAAA
TGATGCTTGTTCACCTCTTCCTCCAGCCGTGGTTAGGTGGTCCTAGGGGTAGCAGAGGGAAGGGAGGATTTTGTGCAGTCAAGATTTGCTTTTCCATCCTTGTCTTCTGAATGTCTAAAATCTCTGCA
TCTTTCTGAAGTTTAACAACTGTCTCCAGAGGTTTGCCAGGCAGCAGCTCTCAGAAGTTTCCAAAGCTTTGCAGAATCTTAGATCTGGAATTAAAGAATTCAAGCCCGAATTGTGAGAACCAGATATT
ACTCAACAGAAAGCTCTTTCTAAGGAATCTGAGCTGTTCACTGGTGGACAGTGGTGGGGCTTGAGTGCTCCTTGTTAATAGGATGGGCCATGCACCCTCTCTGGATATTCACCAAGGCCTCTTCAGAA
TAGGGTTTGTTCTGGCTAGAAGCGTGGTCTAGAAGATGGCTAAGCTCTTTGCCAGCTCTCATTTGGAGTTTTATTATTGCATAAAATCTTCGCTCACTCTGCAAATCTTACGTAATCTGGCACCTTCG
GCACCAGGTGGTGCAGGGGCACTTCTAAGTGGGCTCTTTTTGTTACAGCACAACTCTCAGACAGTCCTGTGGGTCTTTGGATTCGTCAGCATTCCAGCAAACTAGCCCTGCTTAGAAGTTAGCACAAG
ACAGCAGAATGCAGGACCCCGTAGGCAAAATCACAACCTTGCTATTAAAAAAAATTTTGTTTTACATACACATTTGCAGGTGTTCCCTAGAGTGTGGTGTTTTGAATTTGCTCTTTGTCATCTGTATA
ATTGCCAAATGATTATAGTGATACACATGACCTGCATTCACTTTTTTCTAGTTTCCTTAATTATGTTTAGAATAAATTCATTTCCCTAGACCGAGAACCACAAACAGGTAGTGTGGAGCATACACCGA
ATTTAGAAGCATGTGGATAAGGTCAGTGCTCACACTGCCTAGTCCACAGGGAGAGGATGCTGCATGAATATATACTTGCCTCTGAGTGGAGGAGAAATCGTGGCATGAAAGAGAGAGTACCAGTGATG
ACTTCTTATCCCTGGAGCTGGGCTTTCACTGCTACCCATATCCCAGCCCTGCGAGTCTGTTCTAGCCAGCACAGACACCGCAGATCCGGAACTGAATGTTCCTAAATGGCGCAGCCAATCCAGGCTTT
TCAGAAACTGGGCAAAAACATTAAAATGGGGACGATCGGGTCTTCCGCAGTGGTCCAACACAGGATTTCTTTTAAATGTTTCAAAAACATGTCCTTAAAATTTCAGCCTGCTTCTTAGCGAGTGGGCC
AGTTTTGCTTAAAACTGGTGGGGGGGCGGGGGGGAAGTTTTTAAAAATTGCCAAAAAGTTAGATGCAAATGTATTACTGTATAAAGCAAAGCTGTATATACTAAACATTTTTTAGCAGAGTAATATTT
ATTTGCATAGTCTATTTATTGTATTCGTATCACACTGTTATTAAATACTGGGATGAAATCAGTGACCTGAAGCAAGAAATCTTGCCTTTTAATGTATCATTAATTAGGGCTGCTGTGATATTGTCAGC
TTGCATTAACAATTAGAAGATAGAGAACCCGCCATCAGGGTGTCTACCTAACTTCTCAGGGACTACACTTGGTAGTTTTCCACCATTTAAAGAACTGGTAAATATGAAACATTTGTTGAGTTACCAGA
ATTGCCATTAACAGTGTTTTCTTTCCCATATTCCATGCTTTCTGCCTCTGTGTATATATATAATATATATGTATATGACTGTGCTGTGTATTTATCGAAGCTAGTAAGCAATAATTTATATGTAAAAA
TGGCCAAGCAATATAAGGTTAAAACTTATATAAGTAACCCTTACCTTATCTTGTATTTTCAATTTTTTTTTAAAACTGCTTTTCCAAATATGAGACTATGTTAAAGACACTA

hide sequence

RefSeq Acc Id:

XM_047421083 ⟹ XP_047277039

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,219,147 (-)	NCBI

RefSeq Acc Id:

XM_047421084 ⟹ XP_047277040

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,118,236 - 22,219,147 (-)	NCBI

RefSeq Acc Id:

XM_054359421 ⟹ XP_054215396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	22,254,475 - 22,450,832 (-)	NCBI

RefSeq Acc Id:

XM_054359422 ⟹ XP_054215397

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	22,254,475 - 22,355,980 (-)	NCBI


Protein RefSeqs	NP_001354529	(Get FASTA)	NCBI Sequence Viewer
	NP_001354530	(Get FASTA)	NCBI Sequence Viewer
	NP_001354531	(Get FASTA)	NCBI Sequence Viewer
	NP_001354532	(Get FASTA)	NCBI Sequence Viewer
	NP_036426	(Get FASTA)	NCBI Sequence Viewer
	XP_011513954	(Get FASTA)	NCBI Sequence Viewer
	XP_016868326	(Get FASTA)	NCBI Sequence Viewer
	XP_047277039	(Get FASTA)	NCBI Sequence Viewer
	XP_047277040	(Get FASTA)	NCBI Sequence Viewer
	XP_054215396	(Get FASTA)	NCBI Sequence Viewer
	XP_054215397	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH39203	(Get FASTA)	NCBI Sequence Viewer
	ALQ33948	(Get FASTA)	NCBI Sequence Viewer
	ALQ33949	(Get FASTA)	NCBI Sequence Viewer
	BAA13406	(Get FASTA)	NCBI Sequence Viewer
	BAG58663	(Get FASTA)	NCBI Sequence Viewer
	CAI46177	(Get FASTA)	NCBI Sequence Viewer
	EAL24270	(Get FASTA)	NCBI Sequence Viewer
	EAW93746	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000384044
	ENSP00000384044.1
	ENSP00000499535
GenBank Protein	Q92565	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_036426 ⟸ NM_012294
- Peptide Label:	isoform 1
- UniProtKB:	A0A590UJR0 (UniProtKB/TrEMBL), A8MQ07 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAIGVWQLLLDMGIMLSVDQHLYFQDTYVFYQFSSDECSYLYCEFEREEEWQNGVKLLLQLVPLIPARGGICELSHQKIEDSEESSDEILVRLTSAVQRELAAVIALKARKSAIEQDEENNDKHVAVT EAESVPDSQAGVMCKLQERDEIGRIELVQKLAKENYQFLQTDKKEQEKSEHQDDEVTTVQVKEQDQSVLVLKKVQCCGPAPTAGSAESHWRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFL LTYTVFMTTDDLCQALLRHYSAKKYQGKEENSDVPRRKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTIYRNVLDDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHR GTVTETEEIFCHVYITEHSYVSVKAKVSSIAQEILKVVAEKIQYAEEDLALVAITFSGEKHELQPNDLVISKSLEASGRIYVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSLFN SIHEQELIYFTFSRQGSGEHTANLSLLLQRCNEVQLWVATEILLCSQLGKRVQLVKKFIKIAAHCKAQRNLNSFFAIVMGLNTASVSRLSQTWEKIPGKFKKLFSELESLTDPSLNHKAYRDAFKKMK PPKIPFMPLLLKDVTFIHEGNKTFLDNLVNFEKLHMIADTVRTLRHCRTNQFGDLSPKEHQELKSYVNHLYVIDSQQALFELSHRIEPRV hide sequence

RefSeq Acc Id:	XP_011513954 ⟸ XM_011515652
- Peptide Label:	isoform X2
- UniProtKB:	B4DJ01 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQVQDDEVTTVQVKEQDQSVLVLKKVQCCGPAPTAGSAESHWRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQALLRHYSAKKYQGKEENSDVPRRKRKVLHLVSQW IALYKDWLPEDEHSKMFLKTIYRNVLDDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHRGTVTETEEIFCHVYITEHSYVSVKAKVSSIAQEILKVVAEKIQYAEED LALVAITFSGEKHELQPNDLVISKSLEASGRIYVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSLFNSIHEQELIYFTFSRQGSGEHTANLSLLLQRCNEVQLWVATEILLCSQL GKRVQLVKKFIKIAAHCKAQRNLNSFFAIVMGLNTASVSRLSQTWEKIPGKFKKLFSELESLTDPSLNHKAYRDAFKKMKPPKIPFMPLLLKDVTFIHEGNKTFLDNLVNFEKLHMIADTVRTLRHCR TNQFGDLSPKEHQELKSYVNHLYVIDSQQALFELSHRIEPRV hide sequence

RefSeq Acc Id:	XP_016868326 ⟸ XM_017012837
- Peptide Label:	isoform X1
- UniProtKB:	A8MQ07 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTPKKRSCVGSELVDWLLEHCPFVQCRSMAIGVWQLLLDMGIMLSVDQHLYFQDTYVFYQFSSD ECSYLYCEFEREEEWQNGVKLLLQLVPLIPARGGICELSHQKIEDSEESSDEILVRLTSAVQRELAAVIALKARKSAIEQDEENNDKHVAVTEAESVPDSQAGVMCKLQERDEIGRIELVQKLAKENY QFLQTDKKEQEKSEHQDDEVTTVQVKEQDQSVLVLKKVQCCGPAPTAGSAESHWRYVVVSGTPEKILEHLLNDLHLEEVQDKETETLLDDFLLTYTVFMTTDDLCQALLRHYSAKKYQGKEENSDVPR RKRKVLHLVSQWIALYKDWLPEDEHSKMFLKTIYRNVLDDVYEYPILEKELKEFQKILGMHRRHTVDEYSPQKKNKALFHQFSLKENWLQHRGTVTETEEIFCHVYITEHSYVSVKAKVSSIAQEILK VVAEKIQYAEEDLALVAITFSGEKHELQPNDLVISKSLEASGRIYVYRKDLADTLNPFAENEESQQRSMRILGMNTWDLALELMNFDWSLFNSIHEQELIYFTFSRQGSGEHTANLSLLLQRCNEVQL WVATEILLCSQLGKRVQLVKKFIKIAAHCKAQRNLNSFFAIVMGLNTASVSRLSQTWEKIPGKFKKLFSELESLTDPSLNHKAYRDAFKKMKPPKIPFMPLLLKDVTFIHEGNKTFLDNLVNFEKLHM IADTVRTLRHCRTNQFGDLSPKEHQELKSYVNHLYVIDSQQALFELSHRIEPRV hide sequence

RefSeq Acc Id:	NP_001354531 ⟸ NM_001367602
- Peptide Label:	isoform 4

RefSeq Acc Id:	NP_001354529 ⟸ NM_001367600
- Peptide Label:	isoform 2
- UniProtKB:	Q92565 (UniProtKB/Swiss-Prot), A4D140 (UniProtKB/Swiss-Prot), Q8IXU5 (UniProtKB/Swiss-Prot), A0A0S2Z561 (UniProtKB/TrEMBL), B4DJ01 (UniProtKB/TrEMBL)

Protein Domains

DEP N-terminal Ras-GEF Ras-GEF

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q92565-F1-model_v2	AlphaFold	Q92565	1-580	view protein structure

RGD ID:

7210059

Promoter ID:

EPDNEW_H10775

Type:

initiation region

Name:

RAPGEF5_2

Description:

Rap guanine nucleotide exchange factor 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10776 EPDNEW_H10778

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,193,745 - 22,193,805	EPDNEW

RGD ID:

7210061

Promoter ID:

EPDNEW_H10776

Type:

initiation region

Name:

RAPGEF5_1

Description:

Rap guanine nucleotide exchange factor 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10775 EPDNEW_H10778

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	22,357,154 - 22,357,214	EPDNEW

RGD ID:

6806111

Promoter ID:

HG_KWN:56512

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000326593

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	22,362,344 - 22,362,844 (-)	MPROMDB

RGD ID:

6805542

Promoter ID:

HG_KWN:56513

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

ENST00000344041, ENST00000405243, NM_012294, OTTHUMT00000326592

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	22,362,946 - 22,363,446 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	RAPGEF5	COSMIC
Ensembl Genes	ENSG00000136237	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000401957	ENTREZGENE
	ENST00000401957.6	UniProtKB/Swiss-Prot
	ENST00000665637	ENTREZGENE
Gene3D-CATH	1.10.840.10	UniProtKB/Swiss-Prot
	Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1	UniProtKB/Swiss-Prot
	Son of sevenless (SoS) protein Chain: S domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000136237	GTEx
HGNC ID	HGNC:16862	ENTREZGENE
Human Proteome Map	RAPGEF5	Human Proteome Map
InterPro	Ras-like_GEF	UniProtKB/Swiss-Prot
	Ras-like_Gua-exchang_fac_N	UniProtKB/Swiss-Prot
	Ras_G-nucl-exch_fac_CS	UniProtKB/Swiss-Prot
	Ras_GEF_dom_sf	UniProtKB/Swiss-Prot
	RASGEF_cat_dom	UniProtKB/Swiss-Prot
	RASGEF_cat_dom_sf	UniProtKB/Swiss-Prot
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot
KEGG Report	hsa:9771	UniProtKB/Swiss-Prot
NCBI Gene	9771	ENTREZGENE
OMIM	609527	OMIM
PANTHER	PTHR23113	UniProtKB/Swiss-Prot
	RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5	UniProtKB/Swiss-Prot
Pfam	RasGEF	UniProtKB/Swiss-Prot
	RasGEF_N	UniProtKB/Swiss-Prot
PharmGKB	PA134902361	PharmGKB
PROSITE	RASGEF	UniProtKB/Swiss-Prot
	RASGEF_CAT	UniProtKB/Swiss-Prot
	RASGEF_NTER	UniProtKB/Swiss-Prot
SMART	RasGEF	UniProtKB/Swiss-Prot
	RasGEFN	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48366	UniProtKB/Swiss-Prot
	SSF54236	UniProtKB/Swiss-Prot
UniProt	A0A0S2Z561	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5S1_HUMAN	UniProtKB/TrEMBL
	A0A590UJR0	ENTREZGENE, UniProtKB/TrEMBL
	A4D140	ENTREZGENE
	A8MQ07	ENTREZGENE, UniProtKB/TrEMBL
	B4DJ01	ENTREZGENE, UniProtKB/TrEMBL
	C9JBS6_HUMAN	UniProtKB/TrEMBL
	C9JHM4_HUMAN	UniProtKB/TrEMBL
	E9PGY3_HUMAN	UniProtKB/TrEMBL
	F8WD32_HUMAN	UniProtKB/TrEMBL
	Q5JPD2_HUMAN	UniProtKB/TrEMBL
	Q8IXU5	ENTREZGENE
	Q92565	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A4D140	UniProtKB/Swiss-Prot
	Q8IXU5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	RAPGEF5	Rap guanine nucleotide exchange factor 5	RAPGEF5	Rap guanine nucleotide exchange factor (GEF) 5	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 - CTD

Imported Human Phenotype Annotations - ClinVar

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