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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

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Brody myopathy (IAGP)

chromosome 16p11.2 deletion syndrome, 220-kb (IAGP)

chromosome 16p11.2 deletion syndrome, 593-kb (IAGP)

cocaine dependence (ISO)

dilated cardiomyopathy (IAGP)

myoepithelioma (IAGP)

neuronal ceroid lipofuscinosis (IAGP)

nicotine dependence (ISO)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,6-dinitrotoluene (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (ISO)

alpha-pinene (EXP)

ammonium chloride (ISO)

benzo[a]pyrene (ISO)

benzo[b]fluoranthene (ISO)

bexarotene (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

cadmium dichloride (EXP)

caffeine (EXP)

clofibrate (ISO)

copper(II) chloride (EXP)

DDE (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

enzyme inhibitor (EXP)

fenvalerate (ISO)

gentamycin (ISO)

hydralazine (EXP)

Mesaconitine (ISO)

methotrexate (ISO)

nitrates (ISO)

ozone (EXP)

paracetamol (ISO)

perfluorohexanesulfonic acid (ISO)

pirinixic acid (ISO)

Rebamipide (ISO)

sodium arsenite (EXP)

tert-butyl hydroperoxide (EXP)

tetraphene (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell projection organization (IEA)

endocytosis (IEA)

protein transport (IEA)

regulation of cilium assembly (IMP)

signal transduction (IEA)

Cellular Component

cell projection (IEA)

centrosome (IDA,IEA)

ciliary basal body (IDA)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (IDA)

early endosome (IEA)

endosome (IEA)

Golgi apparatus (IDA)

intracellular membrane-bounded organelle (IBA,IDA)

Molecular Function

growth factor activity (IEA)

GTPase activator activity (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

References

References - curated

#	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.

Additional References at PubMed

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

Genomics

Comparative Map Data

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

Variants in RABEP2
47 total Variants

Clinical 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

miRNA Target Status

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597302682	GWAS1398756_H	glomerular filtration rate QTL GWAS1398756 (human)		4e-13	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	16	28906323	28906324	Human
597030103	GWAS1126177_H	glomerular filtration rate QTL GWAS1126177 (human)		6e-11	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	16	28906323	28906324	Human
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
406943071	GWAS592047_H	cortical surface area measurement QTL GWAS592047 (human)		8e-08	cerebral cortex morphology trait (VT:0000788)	tibia-fibula cortical bone total cross-sectional area (CMO:0001721)	16	28908262	28908265	Human
597053416	GWAS1149490_H	household income QTL GWAS1149490 (human)		2e-09	household income		16	28916497	28916498	Human

Markers in Region

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

Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences


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

AAACAGCCGAGAGGACCCGGAAGCGGTGCGCTCCGTCACCAGGGAGTGCGGGAATCCGCCGTTT
GCGCTGAGGCAATGGCGGCAGCTGCGCCGGTGGCCGCGGACGACGATGAGCGGCGGCGGCGGCC
GGGGGCTGCACTGGAGGACTCCCGGTCCCAGGAAGGGGCAAATGGTGAGGCCGAGTCAGGTGAG
CTCAGCCGGCTTCGGGCTGAGCTGGCAGGCGCCCTGGCAGAAATGGAAACCATGAAGGCTGTGG
CAGAGGTGAGCGAGAGCACGAAGGCCGAGGCTGTGGCTGCGGTGCAGCGGCAGTGCCAAGAGGA
GGTGGCCTCGCTGCAGGCCATCCTGAAAGACTCCATCAGCAGCTATGAAGCCCAGATCACCGCC
CTGAAGCAGGAGCGACAGCAGCAGCAGCAGGACTGTGAGGAGAAGGAGCGGGAGCTGGGCCGCC
TGAAGCAGCTGCTGTCCCGGGCCTACCCCCTGGACTCCCTGGAGAAGCAGATGGAAAAGGCCCA
CGAGGACTCGGAGAAGCTGCGGGAGATCGTACTGCCCATGGAAAAGGAGATCGAGGAGCTGAAG
GCGAAGCTGCTGAGGGCCGAGGAGCTGATTCAGGAGATCCAGAGACGTCCCCGGCATGCCCCTT
CCCTGCACGGCTCCACGGAGTTGCTGCCCCTGTCCCGGGATCCATCGCCCCCGCTGGAGCCTCT
GGAGGAGCTGAGCGGAGATGGGGGTCCAGCCGCTGAGGCCTTCGCTCACAACTGCGATGACAGC
GCCTCCATCTCCTCCTTCTCCCTTGGCGGTGGGGTCGGCAGCAGCTCCTCCCTGCCCCAAAGCC
GCCAGGGCCTGAGCCCTGAACAGGAAGAGACGGCCTCGCTGGTGTCTACGGGCACCCTGGTTCC
CGAGGGCATCTACCTGCCCCCTCCTGGCTACCAGCTCGTCCCAGACACTCAGTGGGAGCAGCTG
CAGACAGAGGGCCGACAGCTGCAGAAGGACCTGGAGAGCGTCAGTCGCGAGCGGGACGAGCTCC
AAGAGGGCCTGAGACGGAGCAATGAGGACTGTGCCAAGCAGATGCAGGTGCTCCTGGCCCAGGT
CCAGAACTCAGAGCAGCTGCTGCGGACCCTGCAAGGGACCGTGAGCCAGGCCCAGGAGCGGGTG
CAGCTGCAGATGGCGGAGCTGGTCACCACCCACAAGTGCCTGCACCATGAGGTAAAGCGGTTGA
ATGAGGAAAACCAAGGGCTCCGGGCCGAGCAGCTGCCATCCTCAGCCCCCCAGGGCTCGCAGCA
GGAGCAGGGCGAGGAGGAATCACTGCCCAGCTCTGTGCCAGAGCTGCAGCAGCTGCTGTGCTGC
ACGCGGCAAGAGGCGAGGGCCCGGCTGCAGGCCCAGGAGCACGGGGCCGAGCGCCTGCGGATCG
AGATCGTGACGCTGCGGGAGGCTCTGGAGGAGGAGACAGTGGCCAGGGCCAGCCTGGAGGGGCA
GCTGAGGGTGCAGCGGGAGGAGACAGAGGTGCTGGAGGCCTCCCTGTGCAGCCTGAGGACAGAG
ATGGAGCGGGTGCAGCAGGAACAGAGCAAGGCCCAGCTCCCAGACCTCCTCTCAGAACAGAGGG
CCAAGGTGCTGCGGCTGCAGGCAGAGCTGGAGACCAGTGAGCAGGTGCAGAGGGATTTCGTGCG
ACTGTCCCAGGCCCTGCAGGTGCGCCTAGAGCGGATCCGCCAGGCTGAGACCCTGGAGCAAGTG
CGCAGCATCATGGATGAGGCGCCACTCACGGACGTCAGGGACATCAAGGACACCTGAGGGGTCA
GGATATCCCCACCCCCACCCTGGGAAAGACGCCTTTCCCCACTCCTGAACCATGAGGCCTCGCT
CTGGGGTCTTGGATGGCTTTTCCACCGTCCCTGAGACTGGGGTTGAGGGGACTGACGGGGGCCA
CCACCGCCCCGCCCTCCAGCGCCTCCTCCCAGGGTGGCTGGGCCTCCTGTTCTCAGGGATCACA
CCTGGGTGAGGGGCCCAAGCCCCTCCCGGAACCAAAGGTGCAGGCTCAGGCCTGCGGCTTTCTG
GCTGCTGTGCTGCCTCCTGGGCTCCAGCCCTCCCCTGCCCCCAGCCCGTCCCCTGCCCAGGGCA
CAGCGGAGCCATGGGGGCTGGGAGTCCCCATCAGAGGCAGTGAGGTGGGCCCCGGCCCTGGGAC
AGGCAGCTGCCTTCTGGTCTGCATGACACTAAGACGCTTGTCCACAGCGGCGACCCAGGCCTCC
AAGCTTGCACAGAGGCAAGGCCAGACTTTTCCGTCGTTTATTTTCAATAAATAAGCAGCTCAGC
GCA

hide sequence

Protein Sequences


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
	ENSP00000442798.1
	ENSP00000454510.1
	ENSP00000454968.1
	ENSP00000454974.1
	ENSP00000457040.1
	ENSP00000457495.1
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

MAAAAPVAADDDERRRRPGAALEDSRSQEGANGEAESGELSRLRAELAGALAEMETMKAVAEVS
ESTKAEAVAAVQRQCQEEVASLQAILKDSISSYEAQITALKQERQQQQQDCEEKERELGRLKQL
LSRAYPLDSLEKQMEKAHEDSEKLREIVLPMEKEIEELKAKLLRAEELIQEIQRRPRHAPSLHG
STELLPLSRDPSPPLEPLEELSGDGGPAAEAFAHNCDDSASISSFSLGGGVGSSSSLPQSRQGL
SPEQEETASLVSTGTLVPEGIYLPPPGYQLVPDTQWEQLQTEGRQLQKDLESVSRERDELQEGL
RRSNEDCAKQMQVLLAQVQNSEQLLRTLQGTVSQAQERVQLQMAELVTTHKCLHHEVKRLNEEN
QGLRAEQLPSSAPQGSQQEQGEEESLPSSVPELQQLLCCTRQEARARLQAQEHGAERLRIEIVT
LREALEEETVARASLEGQLRVQREETEVLEASLCSLRTEMERVQQEQSKAQLPDLLSEQRAKVL
RLQAELETSEQVQRDFVRLSQALQVRLERIRQAETLEQVRSIMDEAPLTDVRDIKDT

hide sequence

Ensembl Acc Id:

ENSP00000442798 ⟸ ENST00000544477

Ensembl Acc Id:

ENSP00000457495 ⟸ ENST00000561501

Ensembl Acc Id:

ENSP00000454510 ⟸ ENST00000563577

Ensembl Acc Id:

ENSP00000454974 ⟸ ENST00000566762

Ensembl Acc Id:

ENSP00000457040 ⟸ ENST00000567483

Ensembl Acc Id:

ENSP00000350186 ⟸ ENST00000357573

Ensembl Acc Id:

ENSP00000350934 ⟸ ENST00000358201

Ensembl Acc Id:

ENSP00000454968 ⟸ ENST00000568703

Protein Domains

Rabaptin coiled-coil Rabaptin GTPase-Rab5 binding

Protein Structures

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

Promoters

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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24817	AgrOrtholog
COSMIC	RABEP2	COSMIC
Ensembl Genes	ENSG00000177548	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000357573.10	UniProtKB/Swiss-Prot
	ENST00000358201	ENTREZGENE
	ENST00000358201.9	UniProtKB/Swiss-Prot
	ENST00000544477.5	UniProtKB/TrEMBL
	ENST00000561501.5	UniProtKB/TrEMBL
	ENST00000563577.1	UniProtKB/TrEMBL
	ENST00000566762.1	UniProtKB/TrEMBL
	ENST00000567483.5	UniProtKB/TrEMBL
	ENST00000568703.5	UniProtKB/TrEMBL
Gene3D-CATH	1.10.287.1490	UniProtKB/TrEMBL
	1.20.5.340	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Single helix bin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000177548	GTEx
HGNC ID	HGNC:24817	ENTREZGENE
Human Proteome Map	RABEP2	Human Proteome Map
InterPro	Rabaptin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rabaptin_coiled-coil	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rabaptin_Rab5-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:79874	UniProtKB/Swiss-Prot
NCBI Gene	79874	ENTREZGENE
OMIM	611869	OMIM
PANTHER	PTHR31179	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31179:SF6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Rab5-bind	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rabaptin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134952719	PharmGKB
PRINTS	RABAPTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	G protein-binding domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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