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Gene: RABEP2 (rabaptin, RAB GTPase binding effector protein 2) Homo sapiens

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Symbol:

RABEP2

Name:

rabaptin, RAB GTPase binding effector protein 2

RGD ID:

1344154

HGNC Page

HGNC:24817

Description:

Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in Golgi apparatus; cytosol; and microtubule organizing center.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ23282; FRA; rab GTPase-binding effector protein 2; Rabaptin-5 beta; rabaptin-5beta

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	16	28,904,421 - 28,925,238 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	28,904,421 - 28,936,526 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	28,915,742 - 28,936,559 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	28,823,243 - 28,844,033 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	28,823,243 - 28,844,033	NCBI
Celera	16	27,872,792 - 27,913,272 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	26,783,084 - 26,804,504 (-)	NCBI		HuRef
CHM1_1	16	29,927,556 - 29,948,336 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	29,184,915 - 29,206,347 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RABEP2	Human	cocaine dependence		ISO	RGD:621416	405255653	protein:increased expression:brain	RGD
RABEP2	Human	nicotine dependence		ISO	RGD:621416	405255653	protein:increased expression:brain	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RABEP2	Human	Brody myopathy		IAGP	RGD:127258496	8554872	ClinVar Annotator: match by term: Brody myopathy	ClinVar	PMID:28492532
RABEP2	Human	Brody myopathy		IAGP	RGD:11664541	8554872	ClinVar Annotator: match by term: Brody myopathy	ClinVar
RABEP2	Human	Brody myopathy		IAGP	RGD:11614702	8554872	ClinVar Annotator: match by term: Brody myopathy	ClinVar	PMID:25741868
RABEP2	Human	Brody myopathy		IAGP	RGD:405877594	8554872	ClinVar Annotator: match by term: Brody myopathy	ClinVar	PMID:10914677\|PMID:23911890\|PMID:28492532\|PMID:32040565\|PMID:8841193
RABEP2	Human	chromosome 16p11.2 deletion syndrome, 220-kb		IAGP	RGD:152978430	8554872	ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome	ClinVar
RABEP2	Human	chromosome 16p11.2 deletion syndrome, 593-kb		IAGP	RGD:26897968	8554872	ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome	ClinVar	PMID:25741868\|PMID:32238909
RABEP2	Human	chromosome 16p11.2 deletion syndrome, 593-kb		IAGP	RGD:127234765	8554872	ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome	ClinVar	PMID:31690835
RABEP2	Human	dilated cardiomyopathy		IAGP	RGD:405877738	8554872	ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	ClinVar	PMID:28492532
RABEP2	Human	myoepithelioma		IAGP	RGD:155795136	8554872	ClinVar Annotator: match by term: Myoepithelial tumor	ClinVar
RABEP2	Human	neuronal ceroid lipofuscinosis		IAGP	RGD:127233724\|RGD:156450248	8554872	ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	ClinVar	PMID:28492532\|PMID:28542676\|PMID:9311735
RABEP2	Human	schizophrenia		IAGP	RGD:14351728	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RABEP2	Human	1,2-dichloroethane	decreases expression	ISO	RGD:733514	6480464	ethylene dichloride results in decreased expression of RABEP2 mRNA	CTD	PMID:28960355
RABEP2	Human	1,2-dimethylhydrazine	decreases expression	ISO	RGD:733514	6480464	1,2-Dimethylhydrazine results in decreased expression of RABEP2 mRNA	CTD	PMID:22206623
RABEP2	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of RABEP2 mRNA	CTD	PMID:22574217
RABEP2	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of RABEP2 mRNA	CTD	PMID:31614463
RABEP2	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	ISO	RGD:621416	6480464	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of RABEP2 mRNA	CTD	PMID:27291303
RABEP2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:733514	6480464	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of RABEP2 mRNA	CTD	PMID:16214954
RABEP2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:621416	6480464	Tetrachlorodibenzodioxin results in increased expression of RABEP2 mRNA	CTD	PMID:33387578
RABEP2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:733514	6480464	Tetrachlorodibenzodioxin affects the expression of RABEP2 mRNA	CTD	PMID:21570461
RABEP2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:733514	6480464	Tetrachlorodibenzodioxin results in increased expression of RABEP2 mRNA	CTD	PMID:19465110\|PMID:19770486
RABEP2	Human	2,6-dinitrotoluene	affects expression	ISO	RGD:621416	6480464	2,6-dinitrotoluene affects the expression of RABEP2 mRNA	CTD	PMID:21346803
RABEP2	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:733514	6480464	bisphenol S results in decreased expression of RABEP2 mRNA	CTD	PMID:39298647
RABEP2	Human	7,12-dimethyltetraphene	increases expression	ISO	RGD:733514	6480464	9,10-Dimethyl-1,2-benzanthracene results in increased expression of RABEP2 protein	CTD	PMID:39910959
RABEP2	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of more ...	CTD	PMID:32699268
RABEP2	Human	acrylamide	affects expression	ISO	RGD:621416	6480464	Acrylamide affects the expression of RABEP2 mRNA	CTD	PMID:28959563
RABEP2	Human	aflatoxin B1	increases expression	ISO	RGD:733514	6480464	Aflatoxin B1 results in increased expression of RABEP2 mRNA	CTD	PMID:19770486
RABEP2	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of more ...	CTD	PMID:32699268
RABEP2	Human	ammonium chloride	affects expression	ISO	RGD:621416	6480464	Ammonium Chloride affects the expression of RABEP2 mRNA	CTD	PMID:16483693
RABEP2	Human	benzo[a]pyrene	increases expression	ISO	RGD:733514	6480464	Benzo(a)pyrene results in increased expression of RABEP2 mRNA	CTD	PMID:25908611
RABEP2	Human	benzo[b]fluoranthene	increases expression	ISO	RGD:733514	6480464	benzo(b)fluoranthene results in increased expression of RABEP2 mRNA	CTD	PMID:26377693
RABEP2	Human	bexarotene	increases expression	ISO	RGD:621416	6480464	bexarotene results in increased expression of RABEP2 mRNA	CTD	PMID:16648578
RABEP2	Human	bisphenol A	increases expression	ISO	RGD:621416	6480464	bisphenol A results in increased expression of RABEP2 mRNA	CTD	PMID:25181051
RABEP2	Human	bisphenol A	decreases expression	ISO	RGD:621416	6480464	bisphenol A results in decreased expression of RABEP2 mRNA	CTD	PMID:33296240
RABEP2	Human	bisphenol F	decreases expression	ISO	RGD:733514	6480464	bisphenol F results in decreased expression of RABEP2 mRNA	CTD	PMID:38685157
RABEP2	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of RABEP2 mRNA	CTD	PMID:38568856
RABEP2	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of RABEP2 protein	CTD	PMID:35688186
RABEP2	Human	clofibrate	decreases expression	ISO	RGD:733514	6480464	Clofibrate results in decreased expression of RABEP2 mRNA	CTD	PMID:23811191
RABEP2	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of RABEP2 mRNA	CTD	PMID:38568856
RABEP2	Human	DDE	decreases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in decreased expression of RABEP2 mRNA	CTD	PMID:38568856
RABEP2	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of RABEP2 mRNA	CTD	PMID:37042841
RABEP2	Human	dibutyl phthalate	decreases expression	ISO	RGD:621416	6480464	Dibutyl Phthalate results in decreased expression of RABEP2 mRNA	CTD	PMID:21266533
RABEP2	Human	dibutyl phthalate	decreases expression	ISO	RGD:733514	6480464	Dibutyl Phthalate results in decreased expression of RABEP2 mRNA	CTD	PMID:17361019\|PMID:21266533
RABEP2	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation more ...	CTD	PMID:23301498
RABEP2	Human	fenvalerate	decreases expression	ISO	RGD:621416	6480464	fenvalerate results in decreased expression of RABEP2 mRNA	CTD	PMID:30307764
RABEP2	Human	gentamycin	decreases expression	ISO	RGD:621416	6480464	Gentamicins results in decreased expression of RABEP2 mRNA	CTD	PMID:33387578
RABEP2	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of RABEP2 mRNA	CTD	PMID:17183730
RABEP2	Human	Mesaconitine	increases expression	ISO	RGD:621416	6480464	mesaconitine results in increased expression of RABEP2 protein	CTD	PMID:37182599
RABEP2	Human	methotrexate	affects expression	ISO	RGD:733514	6480464	Methotrexate affects the expression of RABEP2 mRNA	CTD	PMID:18502557
RABEP2	Human	nitrates	multiple interactions	ISO	RGD:733514	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of RABEP2 more ...	CTD	PMID:35964746
RABEP2	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of more ...	CTD	PMID:32699268
RABEP2	Human	paracetamol	affects expression	ISO	RGD:733514	6480464	Acetaminophen affects the expression of RABEP2 mRNA	CTD	PMID:17562736
RABEP2	Human	paracetamol	decreases expression	ISO	RGD:621416	6480464	Acetaminophen results in decreased expression of RABEP2 mRNA	CTD	PMID:33387578
RABEP2	Human	perfluorohexanesulfonic acid	increases expression	ISO	RGD:733514	6480464	perfluorohexanesulfonic acid results in increased expression of RABEP2 mRNA	CTD	PMID:37995155
RABEP2	Human	pirinixic acid	decreases expression	ISO	RGD:733514	6480464	pirinixic acid results in decreased expression of RABEP2 mRNA	CTD	PMID:23811191
RABEP2	Human	Rebamipide	increases expression	ISO	RGD:621416	6480464	rebamipide results in increased expression of RABEP2 mRNA	CTD	PMID:15104358
RABEP2	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of RABEP2 mRNA	CTD	PMID:38568856
RABEP2	Human	tert-butyl hydroperoxide	decreases expression	EXP		6480464	tert-Butylhydroperoxide results in decreased expression of RABEP2 mRNA	CTD	PMID:15336504
RABEP2	Human	tetraphene	affects expression	ISO	RGD:733514	6480464	benz(a)anthracene affects the expression of RABEP2 mRNA	CTD	PMID:26377693
RABEP2	Human	thioacetamide	decreases expression	ISO	RGD:621416	6480464	Thioacetamide results in decreased expression of RABEP2 mRNA	CTD	PMID:34492290
RABEP2	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of RABEP2 mRNA	CTD	PMID:38568856
RABEP2	Human	titanium dioxide	decreases methylation	ISO	RGD:733514	6480464	titanium dioxide results in decreased methylation of RABEP2 gene	CTD	PMID:35295148
RABEP2	Human	trichloroethene	decreases expression	ISO	RGD:621416	6480464	Trichloroethylene results in decreased expression of RABEP2 mRNA	CTD	PMID:19448997
RABEP2	Human	valproic acid	affects expression	ISO	RGD:733514	6480464	Valproic Acid affects the expression of RABEP2 mRNA	CTD	PMID:17292431
RABEP2	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of RABEP2 mRNA	CTD	PMID:23179753\|PMID:23527032\|PMID:27188386\|PMID:28001369\|PMID:29154799
RABEP2	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of RABEP2 mRNA	CTD	PMID:17183730
RABEP2	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of RABEP2 mRNA	CTD	PMID:25979313
RABEP2	Human	vinclozolin	decreases expression	ISO	RGD:621416	6480464	vinclozolin results in decreased expression of RABEP2 mRNA	CTD	PMID:23034163
RABEP2	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of RABEP2 mRNA	CTD	PMID:27188386
RABEP2	Human	zoledronic acid	decreases expression	EXP		6480464	zoledronic acid results in decreased expression of RABEP2 protein	CTD	PMID:28871336

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)
RABEP2	Human	cell projection organization	involved_in	IEA	UniProtKB-KW:KW-0970	150520179		UniProt	GO_REF:0000043
RABEP2	Human	endocytosis	involved_in	IEA	UniProtKB-KW:KW-0254	150520179		UniProt	GO_REF:0000043
RABEP2	Human	endocytosis	involved_in	IEA	InterPro:IPR003914	150520179		InterPro	GO_REF:0000002
RABEP2	Human	protein transport	involved_in	IEA	UniProtKB-KW:KW-0653	150520179		UniProt	GO_REF:0000043
RABEP2	Human	regulation of cilium assembly	involved_in	IMP		150520179	PMID:27224062	UniProt	PMID:27224062
RABEP2	Human	signal transduction	involved_in	IEA	GO:0008083	150520179		GOC	GO_REF:0000108

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)
RABEP2	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
RABEP2	Human	centrosome	located_in	IEA	UniProtKB-SubCell:SL-0048	150520179		UniProt	GO_REF:0000044
RABEP2	Human	centrosome	located_in	IDA		150520179	PMID:27224062	UniProt	PMID:27224062
RABEP2	Human	ciliary basal body	located_in	IDA		150520179	PMID:27224062	UniProt	PMID:27224062
RABEP2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
RABEP2	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
RABEP2	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
RABEP2	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
RABEP2	Human	early endosome	located_in	IEA	UniProtKB-SubCell:SL-0094	150520179		UniProt	GO_REF:0000044
RABEP2	Human	endosome	located_in	IEA	UniProtKB-KW:KW-0967	150520179		UniProt	GO_REF:0000043
RABEP2	Human	Golgi apparatus	located_in	IDA		150520179		HPA	GO_REF:0000052

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)
RABEP2	Human	growth factor activity	enables	IEA	InterPro:IPR018514	150520179		InterPro	GO_REF:0000002
RABEP2	Human	GTPase activator activity	enables	IEA	InterPro:IPR003914\|InterPro:IPR018514	150520179		InterPro	GO_REF:0000002
RABEP2	Human	protein binding	enables	IPI	UniProtKB:Q86SQ7	150520179	PMID:27224062, PMID:33961781	IntAct	PMID:27224062\|PMID:33961781

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RABEP2	Human	Schizophrenia		IAGP	RGD:14351728	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311
RABEP2	Human	Schizophrenia		IAGP	RGD:12791638	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Neural substrate of nicotine addiction as defined by functional brain maps of gene expression.	Pich EM, etal., J Physiol Paris. 1998 Jun-Aug;92(3-4):225-8. doi: 10.1016/s0928-4257(98)80015-6.
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

PMID:9524116	PMID:10720461	PMID:14702039	PMID:15489334	PMID:17205062	PMID:17254320	PMID:21516116	PMID:21873635	PMID:21988832	PMID:22863883	PMID:23128233	PMID:23314748
PMID:23563607	PMID:23940030	PMID:25260751	PMID:25921289	PMID:26186194	PMID:26496610	PMID:27173435	PMID:27224062	PMID:27880917	PMID:28190767	PMID:28514442	PMID:29117863
PMID:29247183	PMID:30455363	PMID:33111431	PMID:33277362	PMID:33729478	PMID:33853758	PMID:33961781	PMID:34831298	PMID:35331737	PMID:35944360	PMID:36167069	PMID:36215168
PMID:36774506	PMID:38803224	PMID:39358380

RABEP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	28,904,421 - 28,925,238 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	28,904,421 - 28,936,526 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	28,915,742 - 28,936,559 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	28,823,243 - 28,844,033 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	28,823,243 - 28,844,033	NCBI
Celera	16	27,872,792 - 27,913,272 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	26,783,084 - 26,804,504 (-)	NCBI		HuRef
CHM1_1	16	29,927,556 - 29,948,336 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	29,184,915 - 29,206,347 (-)	NCBI		T2T-CHM13v2.0

Rabep2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	126,027,596 - 126,045,079 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	126,027,931 - 126,048,417 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	126,428,423 - 126,445,907 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	126,428,759 - 126,449,245 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	133,572,281 - 133,589,421 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	126,220,588 - 126,237,049 (+)	NCBI		MGSCv36	mm8
Celera	7	126,281,311 - 126,298,461 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	69.03	NCBI

Rabep2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	190,433,501 - 190,457,241 (+)	NCBI		GRCr8
mRatBN7.2	1	181,010,305 - 181,026,651 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	181,010,305 - 181,026,648 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	189,340,797 - 189,357,218 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	196,526,872 - 196,543,298 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	189,214,842 - 189,231,201 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	197,839,583 - 197,855,953 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	197,839,430 - 197,856,312 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	204,820,064 - 204,836,434 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.1	1	185,686,801 - 185,703,549 (+)	NCBI
Celera	1	178,670,261 - 178,686,622 (+)	NCBI		Celera
Cytogenetic Map	1	q36	NCBI

Rabep2
(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_004955493	6,549,111 - 6,559,577 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	6,548,951 - 6,560,039 (+)	NCBI	ChiLan1.0	ChiLan1.0

RABEP2
(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	18	31,833,943 - 31,856,798 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	36,651,472 - 36,674,320 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	16	29,291,023 - 29,314,177 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	29,289,949 - 29,314,177 (-)	Ensembl	panpan1.1		panPan2

RABEP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	18,399,992 - 18,413,537 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	18,397,161 - 18,456,477 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	19,978,094 - 19,991,347 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	18,535,856 - 18,549,110 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	18,535,856 - 18,548,590 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	18,335,401 - 18,348,654 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	18,249,957 - 18,263,211 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	18,566,334 - 18,579,587 (-)	NCBI		UU_Cfam_GSD_1.0

Rabep2
(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_024409344	123,709,462 - 123,720,490 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936501	11,806,836 - 11,817,838 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936501	11,807,369 - 11,818,350 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RABEP2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	18,568,266 - 18,585,925 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	18,568,264 - 18,586,259 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	18,753,523 - 18,771,453 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RABEP2
(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	5	26,130,667 - 26,165,415 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	26,131,512 - 26,168,514 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	3,459,735 - 3,481,196 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rabep2
(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_004624782	12,855,583 - 12,867,411 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624782	12,856,701 - 12,867,414 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in RABEP2
56 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	copy number gain	See cases [RCV000051829]	Chr16:21463739..29249579 [GRCh38] Chr16:21475060..29260900 [GRCh37] Chr16:21382561..29168401 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	copy number gain	See cases [RCV000051842]	Chr16:21602183..29314373 [GRCh38] Chr16:21613504..29325694 [GRCh37] Chr16:21521005..29233195 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	copy number gain	See cases [RCV000052401]	Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	copy number loss	See cases [RCV000052520]	Chr16:28456967..30295107 [GRCh38] Chr16:28468288..30306428 [GRCh37] Chr16:28375789..30213929 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	copy number gain	See cases [RCV000053118]	Chr16:28293803..29531653 [GRCh38] Chr16:28305124..29542974 [GRCh37] Chr16:28212625..29450475 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	copy number gain	See cases [RCV000053119]	Chr16:28589904..29030797 [GRCh38] Chr16:28601225..29042118 [GRCh37] Chr16:28508726..28949619 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	copy number gain	See cases [RCV000053120]	Chr16:28592408..29025786 [GRCh38] Chr16:28603729..29037107 [GRCh37] Chr16:28511230..28944608 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	copy number gain	See cases [RCV000053121]	Chr16:28599237..29025786 [GRCh38] Chr16:28610558..29037107 [GRCh37] Chr16:28518059..28944608 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	copy number gain	See cases [RCV000053123]	Chr16:28813473..28981076 [GRCh38] Chr16:28824794..28992397 [GRCh37] Chr16:28732295..28899898 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1	copy number loss	See cases [RCV000053490]	Chr16:28531783..29025786 [GRCh38] Chr16:28543104..29037107 [GRCh37] Chr16:28450605..28944608 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	copy number gain	See cases [RCV000053491]	Chr16:28710478..29025786 [GRCh38] Chr16:28721799..29037107 [GRCh37] Chr16:28629300..28944608 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1	copy number loss	See cases [RCV000053492]	Chr16:28710478..29025786 [GRCh38] Chr16:28721799..29037107 [GRCh37] Chr16:28629300..28944608 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1	copy number loss	See cases [RCV000053494]	Chr16:28826129..29030797 [GRCh38] Chr16:28837450..29042118 [GRCh37] Chr16:28744951..28949619 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	copy number gain	See cases [RCV000053535]	Chr16:28843308..29025786 [GRCh38] Chr16:28854629..29037107 [GRCh37] Chr16:28762130..28944608 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1	copy number loss	See cases [RCV000053538]	Chr16:28843308..29025786 [GRCh38] Chr16:28854629..29037107 [GRCh37] Chr16:28762130..28944608 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	copy number loss	See cases [RCV000133584]	Chr16:28850210..29019738 [GRCh38] Chr16:28861531..29031059 [GRCh37] Chr16:28769032..28938560 [NCBI36] Chr16:16p11.2	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000054252]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	copy number loss	See cases [RCV000054253]	Chr16:28531783..30183432 [GRCh38] Chr16:28543104..30194753 [GRCh37] Chr16:28450605..30102254 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	copy number gain	See cases [RCV000054346]	Chr16:28366111..30183432 [GRCh38] Chr16:28377432..30194753 [GRCh37] Chr16:28284933..30102254 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
NM_024816.2(RABEP2):c.432+2T>C	single nucleotide variant	Malignant melanoma [RCV000063018]	Chr16:28919784 [GRCh38] Chr16:28931105 [GRCh37] Chr16:28838606 [NCBI36] Chr16:16p11.2	not provided
GRCh37/hg19 16p11.2(chr16:28833437-29046252)x3	copy number gain	See cases [RCV000184079]	Chr16:28833437..29046252 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	copy number gain	See cases [RCV000133809]	Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	copy number gain	See cases [RCV000135281]	Chr16:28813473..29032580 [GRCh38] Chr16:28824794..29043901 [GRCh37] Chr16:28732295..28951402 [NCBI36] Chr16:16p11.2	conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28584316-29019738)x3	copy number gain	See cases [RCV000134985]	Chr16:28584316..29019738 [GRCh38] Chr16:28595637..29031059 [GRCh37] Chr16:28503138..28938560 [NCBI36] Chr16:16p11.2	likely pathogenic\|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3	copy number gain	See cases [RCV000135755]	Chr16:28492482..29320029 [GRCh38] Chr16:28503803..29331350 [GRCh37] Chr16:28411304..29238851 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1	copy number loss	See cases [RCV000135759]	Chr16:28492482..29170875 [GRCh38] Chr16:28503803..29182196 [GRCh37] Chr16:28411304..29089697 [NCBI36] Chr16:16p12.1-11.2	likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	copy number gain	See cases [RCV000135765]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	copy number gain	See cases [RCV000135594]	Chr16:22634385..29227323 [GRCh38] Chr16:22645706..29238644 [GRCh37] Chr16:22553207..29146145 [NCBI36] Chr16:16p12.2-11.2	likely pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1	copy number loss	See cases [RCV000137508]	Chr16:28850210..29032639 [GRCh38] Chr16:28861531..29043960 [GRCh37] Chr16:28769032..28951461 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1	copy number loss	See cases [RCV000137557]	Chr16:28813473..29122414 [GRCh38] Chr16:28824794..29133735 [GRCh37] Chr16:28732295..29041236 [NCBI36] Chr16:16p11.2	likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3	copy number gain	See cases [RCV000137571]	Chr16:28487211..29202837 [GRCh38] Chr16:28498532..29214158 [GRCh37] Chr16:28406033..29121659 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	copy number loss	See cases [RCV000137580]	Chr16:28392832..30186020 [GRCh38] Chr16:28404153..30197341 [GRCh37] Chr16:28311654..30104842 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1	copy number loss	See cases [RCV000137599]	Chr16:28722418..29033455 [GRCh38] Chr16:28733739..29044776 [GRCh37] Chr16:28641240..28952277 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	copy number loss	See cases [RCV000137949]	Chr16:28392832..29342070 [GRCh38] Chr16:28404153..29353391 [GRCh37] Chr16:28311654..29260892 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	copy number loss	See cases [RCV000137848]	Chr16:28327346..29342070 [GRCh38] Chr16:28338667..29353391 [GRCh37] Chr16:28246168..29260892 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3	copy number gain	See cases [RCV000138813]	Chr16:28832433..29019750 [GRCh38] Chr16:28843754..29031071 [GRCh37] Chr16:28751255..28938572 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1	copy number loss	See cases [RCV000138814]	Chr16:28832433..29019750 [GRCh38] Chr16:28843754..29031071 [GRCh37] Chr16:28751255..28938572 [NCBI36] Chr16:16p11.2	pathogenic\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1	copy number loss	See cases [RCV000138290]	Chr16:28813473..29032639 [GRCh38] Chr16:28824794..29043960 [GRCh37] Chr16:28732295..28951461 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1	copy number loss	See cases [RCV000138433]	Chr16:28813473..29033455 [GRCh38] Chr16:28824794..29044776 [GRCh37] Chr16:28732295..28952277 [NCBI36] Chr16:16p11.2	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	copy number gain	See cases [RCV000139217]	Chr16:28392026..29170879 [GRCh38] Chr16:28403347..29182200 [GRCh37] Chr16:28310848..29089701 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3	copy number gain	See cases [RCV000139085]	Chr16:28850245..29019750 [GRCh38] Chr16:28861566..29031071 [GRCh37] Chr16:28769067..28938572 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	copy number loss	See cases [RCV000139916]	Chr16:28392832..30320693 [GRCh38] Chr16:28404153..30332014 [GRCh37] Chr16:28311654..30239515 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	copy number gain	See cases [RCV000140235]	Chr16:21350622..29202837 [GRCh38] Chr16:21361943..29214158 [GRCh37] Chr16:21269444..29121659 [NCBI36] Chr16:16p12.2-11.2	likely pathogenic
GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1	copy number loss	See cases [RCV000140241]	Chr16:28809422..29033455 [GRCh38] Chr16:28820743..29044776 [GRCh37] Chr16:28728244..28952277 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	copy number loss	See cases [RCV000139466]	Chr16:28392832..29320029 [GRCh38] Chr16:28404153..29331350 [GRCh37] Chr16:28311654..29238851 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	copy number loss	See cases [RCV000140694]	Chr16:28392832..29170875 [GRCh38] Chr16:28404153..29182196 [GRCh37] Chr16:28311654..29089697 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	copy number gain	See cases [RCV000141716]	Chr16:28320366..29415078 [GRCh38] Chr16:28331687..29426399 [GRCh37] Chr16:28239188..29333900 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1	copy number loss	See cases [RCV000141684]	Chr16:28696852..29039870 [GRCh38] Chr16:28708173..29051191 [GRCh37] Chr16:28615674..28958692 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	copy number gain	See cases [RCV000142569]	Chr16:28492482..29170875 [GRCh38] Chr16:28503803..29182196 [GRCh37] Chr16:28411304..29089697 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1	copy number loss	See cases [RCV000143300]	Chr16:28677764..29039870 [GRCh38] Chr16:28689085..29051191 [GRCh37] Chr16:28596586..28958692 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1	copy number loss	See cases [RCV000143530]	Chr16:28807707..29039870 [GRCh38] Chr16:28819028..29051191 [GRCh37] Chr16:28726529..28958692 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1	copy number loss	See cases [RCV000149553]\|See cases [RCV000509060]	Chr16:28850210..29019738 [GRCh38] Chr16:28861531..29031059 [GRCh37] Chr16:28769032..28938560 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000148148]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	copy number gain	See cases [RCV000148153]	Chr16:28589904..29030797 [GRCh38] Chr16:28601225..29042118 [GRCh37] Chr16:28508726..28949619 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1	copy number loss	See cases [RCV000258804]	Chr16:28484556..29043450 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28631584-29095327)x3	copy number gain	See cases [RCV000449070]	Chr16:28631584..29095327 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000449055]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	pathogenic\|likely pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207226]	Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1	copy number loss	See cases [RCV000240378]	Chr16:28826162..29043960 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1	copy number loss	See cases [RCV000240493]	Chr16:28486693..29043960 [GRCh37] Chr16:16p11.2	pathogenic
NM_173201.4(ATP2A1):c.*298C>T	single nucleotide variant	Brody myopathy [RCV000279247]\|not provided [RCV004715072]	Chr16:28904503 [GRCh38] Chr16:28915824 [GRCh37] Chr16:16p11.2	benign\|likely benign
NM_173201.4(ATP2A1):c.*287G>A	single nucleotide variant	Brody myopathy [RCV000406924]	Chr16:28904492 [GRCh38] Chr16:28915813 [GRCh37] Chr16:16p11.2	uncertain significance
NC_000016.9:g.21530207_29332245del	deletion	not provided [RCV001030428]	Chr16:21530207..29332245 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x1	copy number loss	See cases [RCV000598778]	Chr16:28825605..29043450 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3	copy number gain	See cases [RCV000449402]	Chr16:28819028..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	copy number gain	See cases [RCV000449403]	Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29043450)x3	copy number gain	See cases [RCV000449370]	Chr16:28689085..29043450 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29084772)x3	copy number gain	See cases [RCV000446086]	Chr16:28802397..29084772 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x3	copy number gain	See cases [RCV000446355]	Chr16:28802397..29051191 [GRCh37] Chr16:16p11.2	conflicting data from submitters
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1	copy number loss	See cases [RCV000446593]	Chr16:28819028..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28808193-29088624)x3	copy number gain	See cases [RCV000446202]	Chr16:28808193..29088624 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1	copy number loss	See cases [RCV000447001]	Chr16:28486693..30197290 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1	copy number loss	See cases [RCV000447021]	Chr16:28486693..29048572 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29043863)x3	copy number gain	See cases [RCV000446179]	Chr16:28819028..29043863 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28808193-29043863)x3	copy number gain	See cases [RCV000445909]	Chr16:28808193..29043863 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29043450)x3	copy number gain	See cases [RCV000448522]	Chr16:28802397..29043450 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28824857-29088624)x3	copy number gain	See cases [RCV000448964]	Chr16:28824857..29088624 [GRCh37] Chr16:16p11.2	pathogenic
NC_000016.10:g.(?_28370872)_(29324276_?)del	deletion	Schizophrenia [RCV000416901]	Chr16:28370872..29324276 [GRCh38] Chr16:28382193..29335597 [GRCh37] Chr16:28289694..29243098 [NCBI36] Chr16:16p12.1-11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:28763834-29043863)x1	copy number loss	See cases [RCV000510206]	Chr16:28763834..29043863 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1	copy number loss	See cases [RCV000510329]	Chr16:28384463..29343462 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29043972)x1	copy number loss	See cases [RCV000511913]	Chr16:28819028..29043972 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1	copy number loss	See cases [RCV000511533]	Chr16:28441538..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4	copy number gain	See cases [RCV000511109]	Chr16:28371467..29426399 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1	copy number loss	See cases [RCV000510933]	Chr16:28466730..29427247 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	copy number loss	See cases [RCV000511271]	Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2	pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
NM_024816.3(RABEP2):c.642C>G (p.Ser214Arg)	single nucleotide variant	not specified [RCV004321984]	Chr16:28914488 [GRCh38] Chr16:28925809 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	copy number gain	See cases [RCV000512428]	Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28824794-29042118)x3	copy number gain	not provided [RCV000585256]	Chr16:28824794..29042118 [GRCh37] Chr16:16p11.2	likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:28861531-29031059)	copy number loss	Intellectual disability, moderate [RCV000626507]	Chr16:28861531..29031059 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	copy number gain	See cases [RCV000512478]	Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	copy number loss	not provided [RCV000683786]	Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1	copy number loss	not provided [RCV000683798]	Chr16:28389576..29438326 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29051191)x1	copy number loss	not provided [RCV000683799]	Chr16:28689085..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28747520-29051191)x1	copy number loss	not provided [RCV000683800]	Chr16:28747520..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28763834-29051191)x1	copy number loss	not provided [RCV000683801]	Chr16:28763834..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28802397-29051191)x1	copy number loss	not provided [RCV000683802]	Chr16:28802397..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x1	copy number loss	not provided [RCV000683803]	Chr16:28819028..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-29051191)x3	copy number gain	not provided [RCV000683804]	Chr16:28819028..29051191 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28824490-29043450)x3	copy number gain	not provided [RCV000683805]	Chr16:28824490..29043450 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NC_000016.10:g.(?_28351819)_(29325073_?)del	deletion	Schizophrenia [RCV000754181]	Chr16:28351819..29325073 [GRCh38] Chr16:16p12.1-11.2	pathogenic
NC_000016.10:g.28812342_29035950dup	duplication	not provided [RCV001542301]	Chr16:28812342..29035950 [GRCh38] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1609-10G>A	single nucleotide variant	not provided [RCV000882052]	Chr16:28905054 [GRCh38] Chr16:28916375 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:28734571-29043450)	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV000767609]	Chr16:28734571..29043450 [GRCh37] Chr16:16p11.2	pathogenic
NM_024816.3(RABEP2):c.1131A>G (p.Val377=)	single nucleotide variant	not provided [RCV000895176]	Chr16:28908723 [GRCh38] Chr16:28920044 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:28878826-28988225)x3	copy number gain	not provided [RCV000845884]	Chr16:28878826..28988225 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	copy number gain	not provided [RCV001006786]	Chr16:21576802..29351826 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282]	Chr16:21475039..29043958 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	copy number loss	not provided [RCV001006789]	Chr16:28466730..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	copy number loss	not provided [RCV000848428]	Chr16:28466730..30177916 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	copy number gain	not provided [RCV001249228]	Chr16:21312200..29646379 [GRCh37] Chr16:16p12.2-11.2	not provided
GRCh37/hg19 16p11.2(chr16:28825605-29043450)x3	copy number gain	See cases [RCV001194555]	Chr16:28825605..29043450 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	copy number loss	not provided [RCV000846340]	Chr16:28466730..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3	copy number gain	not provided [RCV000846620]	Chr16:28371467..29416001 [GRCh37] Chr16:16p11.2	pathogenic
NM_024816.3(RABEP2):c.1469G>A (p.Arg490Gln)	single nucleotide variant	not specified [RCV004291752]	Chr16:28905726 [GRCh38] Chr16:28917047 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.925G>C (p.Val309Leu)	single nucleotide variant	not specified [RCV004311604]	Chr16:28911149 [GRCh38] Chr16:28922470 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3	copy number gain	not provided [RCV001786532]	Chr16:28814284..29129367 [GRCh38] Chr16:16p11.2	not provided
Single allele	deletion	Proximal 16p11.2 microdeletion syndrome [RCV001031017]	Chr16:28837450..29042118 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	copy number loss	not provided [RCV002472634]	Chr16:28466731..30321320 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1	copy number loss	not provided [RCV002472640]	Chr16:28486929..29351826 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28545586-29351826)x3	copy number gain	not provided [RCV001006790]	Chr16:28545586..29351826 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	copy number gain	See cases [RCV001263169]	Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2	pathogenic\|likely pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	copy number loss	not provided [RCV001258616]	Chr16:28488319..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-28988225)x1	copy number loss	not provided [RCV001258618]	Chr16:28819028..28988225 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28349949-29342589)	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV002280653]	Chr16:28349949..29342589 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819028-28976572)x3	copy number gain	not provided [RCV001258620]	Chr16:28819028..28976572 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1	copy number loss	not provided [RCV001258615]	Chr16:28336673..29358712 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28689085-29051191)	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV002280607]	Chr16:28689085..29051191 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3	copy number gain	not provided [RCV001258621]	Chr16:28384463..29343462 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28615644-29042118)	copy number gain	Familial atrioventricular septal defect [RCV001291965]	Chr16:28615644..29042118 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3	copy number gain	not provided [RCV001270661]	Chr16:28483631..29332591 [GRCh37] Chr16:16p11.2	uncertain significance
NC_000016.9:g.(?_28488827)_(28950294_?)del	deletion	Neuronal ceroid lipofuscinosis [RCV001387099]	Chr16:28488827..28950294 [GRCh37] Chr16:16p11.2	pathogenic
Single allele	deletion	Proximal 16p11.2 microdeletion syndrome [RCV001391676]	Chr16:28668059..29001338 [GRCh37] Chr16:16p11.2	likely pathogenic
NC_000016.9:g.(?_28888809)_(28916830_?)del	deletion	Brody myopathy [RCV001386956]	Chr16:28888809..28916830 [GRCh37] Chr16:16p11.2	pathogenic
Single allele	deletion	Distal 16p11.2 microdeletion syndrome [RCV002227715]	Chr16:28814284..29032129 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV001801204]	Chr16:28784627..29230353 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	copy number loss	not provided [RCV001795549]	Chr16:21594997..29625302 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	copy number gain	Distal 16p11.2 microdeletion syndrome [RCV001801190]	Chr16:28353878..29478115 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:28384465-29351826)x3	copy number gain	not provided [RCV001827743]	Chr16:28384465..29351826 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	copy number loss	not provided [RCV001834285]	Chr16:28485883..29589674 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819029-29043450)x3	copy number gain	not provided [RCV001829091]	Chr16:28819029..29043450 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28837905-29088624)x1	copy number loss	not provided [RCV001829094]	Chr16:28837905..29088624 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28485883-29416001)x1	copy number loss	not provided [RCV001829191]	Chr16:28485883..29416001 [GRCh37] Chr16:16p11.2	pathogenic
NC_000016.9:g.(?_28835713)_(28917080_?)dup	duplication	not provided [RCV001900433]	Chr16:28835713..28917080 [GRCh37] Chr16:16p11.2	uncertain significance
NC_000016.9:g.(?_28854296)_(29001333_?)del	deletion	Brody myopathy [RCV001972573]	Chr16:28854296..29001333 [GRCh37] Chr16:16p11.2	pathogenic
NC_000016.9:g.(?_27441393)_(29001333_?)del	deletion	Neuronal ceroid lipofuscinosis [RCV003122400]	Chr16:27441393..29001333 [GRCh37] Chr16:16p12.1-11.2	pathogenic
NM_024816.3(RABEP2):c.1162C>T (p.Arg388Trp)	single nucleotide variant	not specified [RCV004309604]	Chr16:28908692 [GRCh38] Chr16:28920013 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.806C>T (p.Thr269Met)	single nucleotide variant	not specified [RCV004281708]	Chr16:28914324 [GRCh38] Chr16:28925645 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1	copy number loss	not provided [RCV002291542]	Chr16:28483659..29341550 [GRCh37] Chr16:16p11.2	pathogenic
NM_024816.3(RABEP2):c.169A>G (p.Met57Val)	single nucleotide variant	not specified [RCV004305388]	Chr16:28924508 [GRCh38] Chr16:28935829 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.124C>G (p.Arg42Gly)	single nucleotide variant	not specified [RCV004327405]	Chr16:28924553 [GRCh38] Chr16:28935874 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1	copy number loss	not provided [RCV002472918]	Chr16:28490480..29379768 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	copy number gain	not provided [RCV002472599]	Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3	copy number gain	not provided [RCV002474709]	Chr16:28384464..29432245 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	copy number gain	not provided [RCV002474541]	Chr16:21576803..30177240 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28763835-29051191)x1	copy number loss	not provided [RCV002473929]	Chr16:28763835..29051191 [GRCh37] Chr16:16p11.2	pathogenic
NM_024816.3(RABEP2):c.175G>A (p.Ala59Thr)	single nucleotide variant	Myoepithelial tumor [RCV002463904]	Chr16:28924502 [GRCh38] Chr16:28935823 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.757C>T (p.Arg253Cys)	single nucleotide variant	not specified [RCV004239871]	Chr16:28914373 [GRCh38] Chr16:28925694 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.334C>G (p.Gln112Glu)	single nucleotide variant	not specified [RCV004113606]	Chr16:28919884 [GRCh38] Chr16:28931205 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.566C>G (p.Ser189Cys)	single nucleotide variant	not specified [RCV004111097]	Chr16:28914564 [GRCh38] Chr16:28925885 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1039A>T (p.Thr347Ser)	single nucleotide variant	not specified [RCV004085369]	Chr16:28910938 [GRCh38] Chr16:28922259 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3	copy number gain	not provided [RCV002475767]	Chr16:28371468..29342589 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.315G>T (p.Lys105Asn)	single nucleotide variant	not specified [RCV004100210]	Chr16:28919903 [GRCh38] Chr16:28931224 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.925G>A (p.Val309Ile)	single nucleotide variant	not specified [RCV004079625]	Chr16:28911149 [GRCh38] Chr16:28922470 [GRCh37] Chr16:16p11.2	likely benign
NM_024816.3(RABEP2):c.1321C>T (p.Arg441Cys)	single nucleotide variant	not specified [RCV004206426]	Chr16:28906121 [GRCh38] Chr16:28917442 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1628G>A (p.Arg543His)	single nucleotide variant	not specified [RCV004195481]	Chr16:28905025 [GRCh38] Chr16:28916346 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1204C>A (p.Gln402Lys)	single nucleotide variant	not specified [RCV004146304]	Chr16:28908650 [GRCh38] Chr16:28919971 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1135C>T (p.Arg379Trp)	single nucleotide variant	not specified [RCV004173023]	Chr16:28908719 [GRCh38] Chr16:28920040 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1471G>T (p.Val491Leu)	single nucleotide variant	not specified [RCV004106950]	Chr16:28905724 [GRCh38] Chr16:28917045 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.439G>C (p.Glu147Gln)	single nucleotide variant	not specified [RCV004072228]	Chr16:28914776 [GRCh38] Chr16:28926097 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1429C>G (p.Leu477Val)	single nucleotide variant	not specified [RCV004152384]	Chr16:28905873 [GRCh38] Chr16:28917194 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.370C>T (p.Arg124Cys)	single nucleotide variant	not specified [RCV004146543]	Chr16:28919848 [GRCh38] Chr16:28931169 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1274G>A (p.Arg425Gln)	single nucleotide variant	not specified [RCV004241526]	Chr16:28906168 [GRCh38] Chr16:28917489 [GRCh37] Chr16:16p11.2	likely benign
NM_024816.3(RABEP2):c.635A>T (p.Glu212Val)	single nucleotide variant	not specified [RCV004072588]	Chr16:28914495 [GRCh38] Chr16:28925816 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.685G>A (p.Asp229Asn)	single nucleotide variant	not specified [RCV004120616]	Chr16:28914445 [GRCh38] Chr16:28925766 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.494A>T (p.Glu165Val)	single nucleotide variant	not specified [RCV004132539]	Chr16:28914721 [GRCh38] Chr16:28926042 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.485A>C (p.Glu162Ala)	single nucleotide variant	not specified [RCV004310013]	Chr16:28914730 [GRCh38] Chr16:28926051 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1585G>A (p.Val529Met)	single nucleotide variant	not specified [RCV004267067]	Chr16:28905420 [GRCh38] Chr16:28916741 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1621C>T (p.Arg541Trp)	single nucleotide variant	not specified [RCV004273448]	Chr16:28905032 [GRCh38] Chr16:28916353 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1346T>C (p.Leu449Pro)	single nucleotide variant	not specified [RCV004261344]	Chr16:28906096 [GRCh38] Chr16:28917417 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.117G>C (p.Glu39Asp)	single nucleotide variant	not specified [RCV004329340]	Chr16:28924560 [GRCh38] Chr16:28935881 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1	copy number loss	Distal 16p11.2 microdeletion syndrome [RCV003329530]	Chr16:28834531..29001678 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28824491-29070000)x1	copy number loss	not provided [RCV003483284]	Chr16:28824491..29070000 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3	copy number gain	not provided [RCV003485107]	Chr16:28441539..29351827 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28747521-29043450)x3	copy number gain	not provided [RCV003485108]	Chr16:28747521..29043450 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28802398-29051191)x3	copy number gain	not provided [RCV003485109]	Chr16:28802398..29051191 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28819029-28998525)x3	copy number gain	not provided [RCV003485110]	Chr16:28819029..28998525 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28747521-29084772)x1	copy number loss	not provided [RCV003483281]	Chr16:28747521..29084772 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28819029-29088624)x1	copy number loss	not provided [RCV003483282]	Chr16:28819029..29088624 [GRCh37] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:28825316-29028291)	copy number loss	Autism spectrum disorder [RCV003883415]	Chr16:28825316..29028291 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1	copy number loss	not specified [RCV003987144]	Chr16:28486928..29438326 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1	copy number loss	not specified [RCV003987151]	Chr16:28371467..29379768 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28824490-28932234)x3	copy number gain	not specified [RCV003987180]	Chr16:28824490..28932234 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	copy number loss	not specified [RCV003987198]	Chr16:28485883..29347116 [GRCh37] Chr16:16p11.2	pathogenic
NM_024816.3(RABEP2):c.903G>C (p.Gln301His)	single nucleotide variant	not specified [RCV004443272]	Chr16:28911171 [GRCh38] Chr16:28922492 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.937C>T (p.Arg313Trp)	single nucleotide variant	not specified [RCV004443274]	Chr16:28911137 [GRCh38] Chr16:28922458 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.758G>A (p.Arg253His)	single nucleotide variant	not specified [RCV004443271]	Chr16:28914372 [GRCh38] Chr16:28925693 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.548G>A (p.Arg183His)	single nucleotide variant	not specified [RCV004443270]	Chr16:28914582 [GRCh38] Chr16:28925903 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28823315-29047087)x3	copy number gain	not provided [RCV004577471]	Chr16:28823315..29047087 [GRCh37] Chr16:16p11.2	pathogenic
NC_000016.9:g.(?_28488837)_(29001333_?)del	deletion	Brody myopathy [RCV004582649]	Chr16:28488837..29001333 [GRCh37] Chr16:16p11.2	pathogenic
NC_000016.9:g.(?_28889993)_(31202759_?)del	deletion	Dilated Cardiomyopathy, Dominant [RCV004582801]	Chr16:28889993..31202759 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1244C>A (p.Pro415Gln)	single nucleotide variant	not specified [RCV004665075]	Chr16:28908610 [GRCh38] Chr16:28919931 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.520G>C (p.Glu174Gln)	single nucleotide variant	not specified [RCV004665074]	Chr16:28914695 [GRCh38] Chr16:28926016 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1538G>A (p.Arg513Gln)	single nucleotide variant	not specified [RCV004669429]	Chr16:28905467 [GRCh38] Chr16:28916788 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1122C>G (p.His374Gln)	single nucleotide variant	not specified [RCV004669430]	Chr16:28908732 [GRCh38] Chr16:28920053 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.895G>A (p.Gly299Ser)	single nucleotide variant	not specified [RCV004846761]	Chr16:28911179 [GRCh38] Chr16:28922500 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1322G>A (p.Arg441His)	single nucleotide variant	not specified [RCV004846754]	Chr16:28906120 [GRCh38] Chr16:28917441 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.629T>C (p.Leu210Pro)	single nucleotide variant	not specified [RCV004846755]	Chr16:28914501 [GRCh38] Chr16:28925822 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.466G>A (p.Val156Ile)	single nucleotide variant	not specified [RCV004846756]	Chr16:28914749 [GRCh38] Chr16:28926070 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1589G>A (p.Arg530Gln)	single nucleotide variant	not specified [RCV004846757]	Chr16:28905416 [GRCh38] Chr16:28916737 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.913G>A (p.Asp305Asn)	single nucleotide variant	not specified [RCV004846758]	Chr16:28911161 [GRCh38] Chr16:28922482 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1324C>G (p.Leu442Val)	single nucleotide variant	not specified [RCV004846759]	Chr16:28906118 [GRCh38] Chr16:28917439 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.553C>T (p.Arg185Trp)	single nucleotide variant	not specified [RCV004846760]	Chr16:28914577 [GRCh38] Chr16:28925898 [GRCh37] Chr16:16p11.2	uncertain significance
NM_024816.3(RABEP2):c.1627C>T (p.Arg543Cys)	single nucleotide variant	not specified [RCV004846762]	Chr16:28905026 [GRCh38] Chr16:28916347 [GRCh37] Chr16:16p11.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	4624
Count of miRNA genes:	1000
Interacting mature miRNAs:	1253
Transcripts:	ENST00000357573, ENST00000358201, ENST00000544477, ENST00000561501, ENST00000561803, ENST00000562475, ENST00000562590, ENST00000563577, ENST00000564473, ENST00000564579, ENST00000566762, ENST00000567483, ENST00000568703, ENST00000570030
Prediction methods:	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
597281019	GWAS1377093_H	X-12707 measurement QTL GWAS1377093 (human)		6e-15	X-12707 measurement		16	28913023	28913024	Human
597249297	GWAS1345371_H	BMI-adjusted hip circumference QTL GWAS1345371 (human)		8e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	16	28921927	28921928	Human
597369985	GWAS1466059_H	obesity QTL GWAS1466059 (human)		7e-09	obesity		16	28910488	28910489	Human
597038445	GWAS1134519_H	high density lipoprotein cholesterol measurement QTL GWAS1134519 (human)		3e-08	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	16	28906323	28906324	Human
597278338	GWAS1374412_H	ascorbic acid 3-sulfate measurement QTL GWAS1374412 (human)		2e-14	ascorbic acid 3-sulfate measurement		16	28913023	28913024	Human
597089690	GWAS1185764_H	type 2 diabetes mellitus QTL GWAS1185764 (human)		1e-09	type 2 diabetes mellitus		16	28906323	28906324	Human
597303687	GWAS1399761_H	BMI-adjusted hip circumference QTL GWAS1399761 (human)		9e-12	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	16	28921927	28921928	Human
597053416	GWAS1149490_H	household income QTL GWAS1149490 (human)		2e-09	household income		16	28916497	28916498	Human

RH65240

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,950,471 - 28,950,623	UniSTS	GRCh37
Build 36	16	28,857,972 - 28,858,124	RGD	NCBI36
Celera	16	27,905,758 - 27,905,910	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,818,447 - 26,818,599	UniSTS

GDB:191081

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,950,540 - 28,950,620	UniSTS	GRCh37
Build 36	16	28,858,041 - 28,858,121	RGD	NCBI36
Celera	16	27,905,827 - 27,905,907	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,818,516 - 26,818,596	UniSTS

SHGC-57443

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,930,938 - 28,931,053	UniSTS	GRCh37
Build 36	16	28,838,439 - 28,838,554	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,798,913 - 26,799,028	UniSTS
TNG Radiation Hybrid Map	16	16303.0	UniSTS

PMC136845P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,944,554 - 28,944,830	UniSTS	GRCh37
Build 36	16	28,852,055 - 28,852,331	RGD	NCBI36
Celera	16	27,899,841 - 27,900,117	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,812,530 - 26,812,806	UniSTS

G10610

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	28,950,474 - 28,950,637	UniSTS	GRCh37
Build 36	16	28,857,975 - 28,858,138	RGD	NCBI36
Celera	16	27,905,761 - 27,905,924	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	26,818,450 - 26,818,613	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1950	465	2269	7305	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_024816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC109460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC058900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000357573 ⟹ ENSP00000350186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,904,421 - 28,925,214 (-)	Ensembl

Ensembl Acc Id:

ENST00000358201 ⟹ ENSP00000350934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,904,421 - 28,925,238 (-)	Ensembl

Ensembl Acc Id:

ENST00000544477 ⟹ ENSP00000442798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,904,828 - 28,925,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000561501 ⟹ ENSP00000457495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,914,490 - 28,924,200 (-)	Ensembl

Ensembl Acc Id:

ENST00000561803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,916,176 - 28,925,214 (-)	Ensembl

Ensembl Acc Id:

ENST00000562475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,917,837 - 28,924,711 (-)	Ensembl

Ensembl Acc Id:

ENST00000562590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,910,287 - 28,925,684 (-)	Ensembl

Ensembl Acc Id:

ENST00000563577 ⟹ ENSP00000454510

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,919,786 - 28,924,682 (-)	Ensembl

Ensembl Acc Id:

ENST00000564473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,917,823 - 28,925,177 (-)	Ensembl

Ensembl Acc Id:

ENST00000564579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,919,695 - 28,924,710 (-)	Ensembl

Ensembl Acc Id:

ENST00000566762 ⟹ ENSP00000454974

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,914,574 - 28,936,526 (-)	Ensembl

Ensembl Acc Id:

ENST00000567483 ⟹ ENSP00000457040

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,914,259 - 28,924,937 (-)	Ensembl

Ensembl Acc Id:

ENST00000568703 ⟹ ENSP00000454968

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,914,236 - 28,924,827 (-)	Ensembl

Ensembl Acc Id:

ENST00000570030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	28,919,688 - 28,925,216 (-)	Ensembl

RefSeq Acc Id:

NM_024816 ⟹ NP_079092

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	28,904,421 - 28,925,238 (-)	NCBI
GRCh37	16	28,915,742 - 28,937,339 (-)	NCBI
Build 36	16	28,823,243 - 28,844,033 (-)	NCBI Archive
Celera	16	27,872,792 - 27,913,272 (-)	RGD
HuRef	16	26,783,084 - 26,804,504 (-)	ENTREZGENE
CHM1_1	16	29,927,556 - 29,948,336 (-)	NCBI
T2T-CHM13v2.0	16	29,184,915 - 29,206,347 (-)	NCBI

Sequence:

show sequence

AAACAGCCGAGAGGACCCGGAAGCGGTGCGCTCCGTCACCAGGGAGTGCGGGAATCCGCCGTTTGCGCTGAGGCAATGGCGGCAGCTGCGCCGGTGGCCGCGGACGACGATGAGCGGCGGCGGCGGCC
GGGGGCTGCACTGGAGGACTCCCGGTCCCAGGAAGGGGCAAATGGTGAGGCCGAGTCAGGTGAGCTCAGCCGGCTTCGGGCTGAGCTGGCAGGCGCCCTGGCAGAAATGGAAACCATGAAGGCTGTGG
CAGAGGTGAGCGAGAGCACGAAGGCCGAGGCTGTGGCTGCGGTGCAGCGGCAGTGCCAAGAGGAGGTGGCCTCGCTGCAGGCCATCCTGAAAGACTCCATCAGCAGCTATGAAGCCCAGATCACCGCC
CTGAAGCAGGAGCGACAGCAGCAGCAGCAGGACTGTGAGGAGAAGGAGCGGGAGCTGGGCCGCCTGAAGCAGCTGCTGTCCCGGGCCTACCCCCTGGACTCCCTGGAGAAGCAGATGGAAAAGGCCCA
CGAGGACTCGGAGAAGCTGCGGGAGATCGTACTGCCCATGGAAAAGGAGATCGAGGAGCTGAAGGCGAAGCTGCTGAGGGCCGAGGAGCTGATTCAGGAGATCCAGAGACGTCCCCGGCATGCCCCTT
CCCTGCACGGCTCCACGGAGTTGCTGCCCCTGTCCCGGGATCCATCGCCCCCGCTGGAGCCTCTGGAGGAGCTGAGCGGAGATGGGGGTCCAGCCGCTGAGGCCTTCGCTCACAACTGCGATGACAGC
GCCTCCATCTCCTCCTTCTCCCTTGGCGGTGGGGTCGGCAGCAGCTCCTCCCTGCCCCAAAGCCGCCAGGGCCTGAGCCCTGAACAGGAAGAGACGGCCTCGCTGGTGTCTACGGGCACCCTGGTTCC
CGAGGGCATCTACCTGCCCCCTCCTGGCTACCAGCTCGTCCCAGACACTCAGTGGGAGCAGCTGCAGACAGAGGGCCGACAGCTGCAGAAGGACCTGGAGAGCGTCAGTCGCGAGCGGGACGAGCTCC
AAGAGGGCCTGAGACGGAGCAATGAGGACTGTGCCAAGCAGATGCAGGTGCTCCTGGCCCAGGTCCAGAACTCAGAGCAGCTGCTGCGGACCCTGCAAGGGACCGTGAGCCAGGCCCAGGAGCGGGTG
CAGCTGCAGATGGCGGAGCTGGTCACCACCCACAAGTGCCTGCACCATGAGGTAAAGCGGTTGAATGAGGAAAACCAAGGGCTCCGGGCCGAGCAGCTGCCATCCTCAGCCCCCCAGGGCTCGCAGCA
GGAGCAGGGCGAGGAGGAATCACTGCCCAGCTCTGTGCCAGAGCTGCAGCAGCTGCTGTGCTGCACGCGGCAAGAGGCGAGGGCCCGGCTGCAGGCCCAGGAGCACGGGGCCGAGCGCCTGCGGATCG
AGATCGTGACGCTGCGGGAGGCTCTGGAGGAGGAGACAGTGGCCAGGGCCAGCCTGGAGGGGCAGCTGAGGGTGCAGCGGGAGGAGACAGAGGTGCTGGAGGCCTCCCTGTGCAGCCTGAGGACAGAG
ATGGAGCGGGTGCAGCAGGAACAGAGCAAGGCCCAGCTCCCAGACCTCCTCTCAGAACAGAGGGCCAAGGTGCTGCGGCTGCAGGCAGAGCTGGAGACCAGTGAGCAGGTGCAGAGGGATTTCGTGCG
ACTGTCCCAGGCCCTGCAGGTGCGCCTAGAGCGGATCCGCCAGGCTGAGACCCTGGAGCAAGTGCGCAGCATCATGGATGAGGCGCCACTCACGGACGTCAGGGACATCAAGGACACCTGAGGGGTCA
GGATATCCCCACCCCCACCCTGGGAAAGACGCCTTTCCCCACTCCTGAACCATGAGGCCTCGCTCTGGGGTCTTGGATGGCTTTTCCACCGTCCCTGAGACTGGGGTTGAGGGGACTGACGGGGGCCA
CCACCGCCCCGCCCTCCAGCGCCTCCTCCCAGGGTGGCTGGGCCTCCTGTTCTCAGGGATCACACCTGGGTGAGGGGCCCAAGCCCCTCCCGGAACCAAAGGTGCAGGCTCAGGCCTGCGGCTTTCTG
GCTGCTGTGCTGCCTCCTGGGCTCCAGCCCTCCCCTGCCCCCAGCCCGTCCCCTGCCCAGGGCACAGCGGAGCCATGGGGGCTGGGAGTCCCCATCAGAGGCAGTGAGGTGGGCCCCGGCCCTGGGAC
AGGCAGCTGCCTTCTGGTCTGCATGACACTAAGACGCTTGTCCACAGCGGCGACCCAGGCCTCCAAGCTTGCACAGAGGCAAGGCCAGACTTTTCCGTCGTTTATTTTCAATAAATAAGCAGCTCAGC
GCA

hide sequence


Protein RefSeqs	NP_079092	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH27584	(Get FASTA)	NCBI Sequence Viewer
	AAH58900	(Get FASTA)	NCBI Sequence Viewer
	BAB15594	(Get FASTA)	NCBI Sequence Viewer
	BAG52526	(Get FASTA)	NCBI Sequence Viewer
	BAG58222	(Get FASTA)	NCBI Sequence Viewer
	EAW52007	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350186.6
	ENSP00000350934
	ENSP00000350934.4
GenBank Protein	Q9H5N1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_079092 ⟸ NM_024816

- UniProtKB:

Q9H5N1 (UniProtKB/Swiss-Prot), B3KRW4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAAAPVAADDDERRRRPGAALEDSRSQEGANGEAESGELSRLRAELAGALAEMETMKAVAEVSESTKAEAVAAVQRQCQEEVASLQAILKDSISSYEAQITALKQERQQQQQDCEEKERELGRLKQL
LSRAYPLDSLEKQMEKAHEDSEKLREIVLPMEKEIEELKAKLLRAEELIQEIQRRPRHAPSLHGSTELLPLSRDPSPPLEPLEELSGDGGPAAEAFAHNCDDSASISSFSLGGGVGSSSSLPQSRQGL
SPEQEETASLVSTGTLVPEGIYLPPPGYQLVPDTQWEQLQTEGRQLQKDLESVSRERDELQEGLRRSNEDCAKQMQVLLAQVQNSEQLLRTLQGTVSQAQERVQLQMAELVTTHKCLHHEVKRLNEEN
QGLRAEQLPSSAPQGSQQEQGEEESLPSSVPELQQLLCCTRQEARARLQAQEHGAERLRIEIVTLREALEEETVARASLEGQLRVQREETEVLEASLCSLRTEMERVQQEQSKAQLPDLLSEQRAKVL
RLQAELETSEQVQRDFVRLSQALQVRLERIRQAETLEQVRSIMDEAPLTDVRDIKDT

hide sequence

Ensembl Acc Id:

ENSP00000442798 ⟸ ENST00000544477

Ensembl Acc Id:

ENSP00000457495 ⟸ ENST00000561501

Ensembl Acc Id:

ENSP00000454510 ⟸ ENST00000563577

Ensembl Acc Id:

ENSP00000454974 ⟸ ENST00000566762

Protein Domains

Rabaptin coiled-coil Rabaptin GTPase-Rab5 binding

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H5N1-F1-model_v2	AlphaFold	Q9H5N1	1-569	view protein structure

RGD ID:

6793407

Promoter ID:

HG_KWN:23420

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_024816, UC002DRR.2, UC010BYN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	28,844,001 - 28,844,632 (-)	MPROMDB

RGD ID:

7231769

Promoter ID:

EPDNEW_H21631

Type:

initiation region

Name:

RABEP2_2

Description:

rabaptin, RAB GTPase binding effector protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21632

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	28,925,220 - 28,925,280	EPDNEW

RGD ID:

7231771

Promoter ID:

EPDNEW_H21632

Type:

initiation region

Name:

RABEP2_1

Description:

rabaptin, RAB GTPase binding effector protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21631

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	28,925,721 - 28,925,781	EPDNEW

Database	Acc Id	Source(s)
COSMIC	RABEP2	COSMIC
Ensembl Genes	ENSG00000177548	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000357573.10	UniProtKB/Swiss-Prot
	ENST00000358201	ENTREZGENE
	ENST00000358201.9	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.5.340	UniProtKB/Swiss-Prot
	Single helix bin	UniProtKB/Swiss-Prot
GTEx	ENSG00000177548	GTEx
HGNC ID	HGNC:24817	ENTREZGENE
Human Proteome Map	RABEP2	Human Proteome Map
InterPro	Rabaptin	UniProtKB/Swiss-Prot
	Rabaptin_coiled-coil	UniProtKB/Swiss-Prot
	Rabaptin_Rab5-bd_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:79874	UniProtKB/Swiss-Prot
NCBI Gene	79874	ENTREZGENE
OMIM	611869	OMIM
PANTHER	PTHR31179	UniProtKB/Swiss-Prot
	PTHR31179:SF6	UniProtKB/Swiss-Prot
Pfam	Rab5-bind	UniProtKB/Swiss-Prot
	Rabaptin	UniProtKB/Swiss-Prot
PharmGKB	PA134952719	PharmGKB
PRINTS	RABAPTIN	UniProtKB/Swiss-Prot
Superfamily-SCOP	G protein-binding domain	UniProtKB/Swiss-Prot
UniProt	B3KRW4	ENTREZGENE, UniProtKB/TrEMBL
	B4DHR0_HUMAN	UniProtKB/TrEMBL
	H3BMR7_HUMAN	UniProtKB/TrEMBL
	H3BNR2_HUMAN	UniProtKB/TrEMBL
	H3BNR8_HUMAN	UniProtKB/TrEMBL
	H3BT64_HUMAN	UniProtKB/TrEMBL
	H3BU67_HUMAN	UniProtKB/TrEMBL
	Q49AT6_HUMAN	UniProtKB/TrEMBL
	Q9H5N1	ENTREZGENE, UniProtKB/Swiss-Prot

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


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


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

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