RAB38 (RAB38, member RAS oncogene family)

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Gene: RAB38 (RAB38, member RAS oncogene family) Homo sapiens

Analyze

Symbol:

RAB38

Name:

RAB38, member RAS oncogene family

RGD ID:

734295

HGNC Page

HGNC

Description:

Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

melanoma antigen NY-MEL-1; NY-MEL-1; Rab-related GTP-binding protein; rab38, member of ras oncogene family; ras-related protein Rab-38; rrGTPbp

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

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	11	87,803,715 - 88,175,443 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	88,113,251 - 88,175,443 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	87,846,419 - 87,908,611 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	87,486,079 - 87,548,247 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	87,486,078 - 87,548,247	NCBI
Celera	11	86,723,503 - 86,785,679 (+)	NCBI
Cytogenetic Map	11	q14.2	NCBI
HuRef	11	84,086,688 - 84,148,798 (-)	NCBI		HuRef
CHM1_1	11	87,729,200 - 87,791,404 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Albuminuria (ISO)

Hermansky-Pudlak syndrome (ISO)

intellectual disability (IAGP)

platelet storage pool deficiency (ISO)

proteinuria (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine (ISO)

17beta-estradiol (EXP)

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

2,4-dinitrotoluene (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

ammonium chloride (ISO)

amphetamine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

buspirone (ISO)

butan-1-ol (EXP)

chloropicrin (EXP)

dehydroepiandrosterone (ISO)

dexamethasone (ISO)

dibenz[a,h]anthracene (ISO)

dichloroacetic acid (ISO)

diethylstilbestrol (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

flutamide (ISO)

genistein (ISO)

glafenine (ISO)

glycidol (ISO)

GW 4064 (ISO)

isobutanol (EXP)

isotretinoin (EXP)

leflunomide (ISO)

methoxychlor (ISO)

methylmercury chloride (EXP)

methylphenidate (ISO)

nefazodone (ISO)

nimesulide (ISO)

oxycodone (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorooctanoic acid (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

rotenone (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thapsigargin (EXP,ISO)

tipifarnib (ISO)

triclosan (EXP)

trimellitic anhydride (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endosome to melanosome transport (IMP)

intracellular protein transport (IBA)

melanosome assembly (IDA,IMP)

melanosome organization (IBA)

mitochondrion organization (IMP)

phagosome acidification (IMP)

platelet dense granule organization (IEA,ISO)

positive regulation of melanin biosynthetic process (ISO)

positive regulation of phosphatidylcholine biosynthetic process (IEA,ISO)

positive regulation of protein localization to cell periphery (ISO)

protein localization to membrane (IMP)

protein transport (IEA,NAS)

small GTPase mediated signal transduction (NAS)

vesicle-mediated transport (IEA)

Cellular Component

cell body (ISO)

cytoplasm (IEA,ISO)

cytoplasmic vesicle (IEA,ISO)

cytosol (IEA,ISO,TAS)

early endosome (IDA)

early endosome lumen (IDA)

endomembrane system (IBA)

endoplasmic reticulum (IEA,ISO)

Golgi apparatus (IEA,ISO)

lysosome (IDA)

melanosome (IBA,IDA,IEA,ISO)

melanosome membrane (IDA,IEA,TAS)

membrane (IDA,IEA)

mitochondria-associated endoplasmic reticulum membrane (IDA)

mitochondrion (IDA)

perinuclear region of cytoplasm (ISO)

phagocytic vesicle (IDA,IEA)

phagocytic vesicle membrane (IEA)

plasma membrane (IEA)

trans-Golgi network (IBA,IEA)

vesicle (IEA,ISO)

Molecular Function

AP-1 adaptor complex binding (IPI)

AP-2 adaptor complex binding (IDA)

AP-3 adaptor complex binding (IPI)

BLOC-2 complex binding (IPI)

GTP binding (IEA,ISO,NAS)

GTP-dependent protein binding (IPI)

GTPase activity (IBA,IEA,NAS)

nucleotide binding (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	Hamada S, etal., Exp Anim 1997 Jul;46(3):235-9.
3.	Osanai K, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L243-51. Epub 2009 Nov 6.
4.	Rangel-Filho A, etal., J Am Soc Nephrol 2005 Apr;16(4):852-6. Epub 2005 Mar 9.
5.	Rangel-Filho A, etal., J Am Soc Nephrol. 2013 Feb;24(2):283-92. doi: 10.1681/ASN.2012090927. Epub 2013 Jan 4.
6.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10910072	PMID:11337364	PMID:12477932	PMID:12643545	PMID:12850305	PMID:15489334	PMID:15761153	PMID:17081065	PMID:18477474	PMID:19010793	PMID:20103624	PMID:21255211
PMID:21832049	PMID:21873635	PMID:22511774	PMID:23084991	PMID:24026199	PMID:24875359	PMID:24943344	PMID:25324551	PMID:25767741	PMID:26186194	PMID:26631737	PMID:27103069
PMID:28514442	PMID:30569114	PMID:31552791	PMID:32513696	PMID:32814053	PMID:33961781	PMID:34209035

Genomics

Comparative Map Data

RAB38
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	87,803,715 - 88,175,443 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	11	88,113,251 - 88,175,443 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	87,846,419 - 87,908,611 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	87,486,079 - 87,548,247 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	87,486,078 - 87,548,247	NCBI
Celera	11	86,723,503 - 86,785,679 (+)	NCBI
Cytogenetic Map	11	q14.2	NCBI
HuRef	11	84,086,688 - 84,148,798 (-)	NCBI		HuRef
CHM1_1	11	87,729,200 - 87,791,404 (-)	NCBI		CHM1_1

Rab38
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	88,079,481 - 88,140,780 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	7	88,079,481 - 88,140,780 (+)	Ensembl
GRCm38	7	88,430,273 - 88,491,572 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	88,430,273 - 88,491,572 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	95,578,783 - 95,640,082 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	88,305,465 - 88,366,764 (+)	NCBI			mm8
Celera	7	85,784,928 - 85,846,216 (+)	NCBI		Celera
Cytogenetic Map	7	D3	NCBI
cM Map	7	49.19	NCBI

Rab38
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	142,182,566 - 142,262,923 (+)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	1	142,182,556 - 142,262,924 (+)	Ensembl
Rnor_6.0	1	152,072,716 - 152,153,449 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	152,072,665 - 152,153,449 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	158,385,888 - 158,466,621 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	144,783,919 - 144,864,573 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	144,862,324 - 144,942,979 (+)	NCBI
Celera	1	140,481,941 - 140,561,948 (+)	NCBI		Celera
Cytogenetic Map	1	q32	NCBI

Rab38
(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_004955414	5,158,261 - 5,215,698 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	5,158,860 - 5,214,108 (+)	NCBI	ChiLan1.0	ChiLan1.0

RAB38
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	11	86,710,358 - 86,772,796 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	86,710,358 - 86,773,142 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	11	83,121,858 - 83,183,698 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

RAB38
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	11,769,924 - 11,823,546 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	11,769,351 - 11,822,815 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	11,629,645 - 11,685,137 (+)	NCBI
ROS_Cfam_1.0	21	11,951,012 - 12,006,559 (+)	NCBI
ROS_Cfam_1.0 Ensembl	21	11,950,427 - 12,014,114 (+)	Ensembl
UMICH_Zoey_3.1	21	11,739,658 - 11,795,116 (+)	NCBI
UNSW_CanFamBas_1.0	21	11,810,618 - 11,866,135 (+)	NCBI
UU_Cfam_GSD_1.0	21	11,864,785 - 11,920,329 (+)	NCBI

Rab38
(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_024404947	73,981,078 - 74,037,967 (-)	NCBI
SpeTri2.0	NW_004936736	1,304,290 - 1,360,412 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RAB38
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	21,577,172 - 21,640,115 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	21,577,083 - 21,640,637 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	23,798,471 - 23,863,103 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RAB38
(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	1	79,256,996 - 79,316,967 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	1	79,256,835 - 79,316,789 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666043	46,404,298 - 46,464,013 (+)	NCBI	Vero_WHO_p1.0

Rab38
(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 1.0	NW_004624845	1,908,410 - 1,983,897 (+)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

D11S4623

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	87,890,667 - 87,890,763	UniSTS	GRCh37
Build 36	11	87,530,315 - 87,530,411	RGD	NCBI36
Celera	11	86,741,348 - 86,741,444	RGD
Cytogenetic Map	11	q14	UniSTS
HuRef	11	84,130,684 - 84,130,780	UniSTS
Stanford-G3 RH Map	11	3865.0	UniSTS

RH93854

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	87,846,648 - 87,846,782	UniSTS	GRCh37
Build 36	11	87,486,296 - 87,486,430	RGD	NCBI36
Celera	11	86,785,328 - 86,785,462	RGD
Cytogenetic Map	11	q14	UniSTS
HuRef	11	84,086,921 - 84,087,055	UniSTS
GeneMap99-GB4 RH Map	11	302.61	UniSTS

D11S2791

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	74,330,318 - 74,330,461	UniSTS	GRCh37
GRCh37	11	87,878,312 - 87,878,461	UniSTS	GRCh37
Build 36	11	87,517,960 - 87,518,109	RGD	NCBI36
Celera	14	54,367,256 - 54,367,399	UniSTS
Celera	11	86,753,650 - 86,753,799	RGD
HuRef	14	54,497,365 - 54,497,508	UniSTS
HuRef	11	84,118,329 - 84,118,478	UniSTS
HuRef	19	47,581,695 - 47,581,994	UniSTS

SHGC-144052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	87,876,443 - 87,876,782	UniSTS	GRCh37
Build 36	11	87,516,091 - 87,516,430	RGD	NCBI36
Celera	11	86,755,329 - 86,755,668	RGD
Cytogenetic Map	11	q14	UniSTS
HuRef	11	84,116,465 - 84,116,799	UniSTS
TNG Radiation Hybrid Map	11	40085.0	UniSTS

RAB38_243.2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	87,846,286 - 87,847,074	UniSTS	GRCh37
Build 36	11	87,485,934 - 87,486,722	RGD	NCBI36
Celera	11	86,785,036 - 86,785,824	RGD
HuRef	11	84,086,559 - 84,087,347	UniSTS

STS-N33002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	87,846,506 - 87,846,654	UniSTS	GRCh37
Build 36	11	87,486,154 - 87,486,302	RGD	NCBI36
Celera	11	86,785,456 - 86,785,604	RGD
Cytogenetic Map	11	q14	UniSTS
HuRef	11	84,086,779 - 84,086,927	UniSTS
GeneMap99-GB4 RH Map	11	309.31	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	592
Count of miRNA genes:	279
Interacting mature miRNAs:	290
Transcripts:	ENST00000243662, ENST00000526372, ENST00000531138
Prediction methods:	Miranda, Rnahybrid
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.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

440

406

1676

137

201

407

401

787

Low

2204

2176

1127

418

1270

289

1834

995

1261

210

1035

1165

129

1134

1184

Below cutoff

156

736

157

159

258

156

783

1110

2139

758

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_022337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	ABBA01011544	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	ABBA01017306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF136172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF235022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL546159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000676	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP003388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP005436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AUXG01000107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AUXG01000108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT009842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ178619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000243662 ⟹ ENSP00000243662

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	88,113,251 - 88,175,443 (-)	Ensembl

RefSeq Acc Id:

ENST00000526372 ⟹ ENSP00000433317

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	88,113,612 - 88,175,434 (-)	Ensembl

RefSeq Acc Id:

ENST00000531138 ⟹ ENSP00000435340

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	88,113,464 - 88,175,433 (-)	Ensembl

RefSeq Acc Id:

NM_022337 ⟹ NP_071732

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	88,113,251 - 88,175,443 (-)	NCBI
GRCh37	11	87,846,415 - 87,908,635 (-)	ENTREZGENE
Build 36	11	87,486,079 - 87,548,247 (-)	NCBI Archive
Celera	11	86,723,503 - 86,785,679 (+)	RGD
HuRef	11	84,086,688 - 84,148,798 (-)	ENTREZGENE
CHM1_1	11	87,729,200 - 87,791,404 (-)	NCBI

Sequence:

show sequence

GCGCAGAGCCCAGGCTGCGCTTCCCTGGTCAGGCACGGCACGTCTGGCCGGCCGCCAGGATGCA
GGCCCCGCACAAGGAGCACCTGTACAAGTTGCTGGTGATTGGCGACCTGGGCGTGGGGAAGACC
AGTATCATCAAGCGCTACGTGCACCAGAACTTCTCTTCGCACTACCGGGCCACAATCGGCGTGG
ACTTCGCGCTCAAGGTGCTCCACTGGGACCCGGAGACTGTGGTGCGCCTGCAGCTCTGGGATAT
CGCAGGTCAAGAAAGATTTGGAAACATGACGAGGGTCTATTACCGAGAAGCTATGGGTGCATTT
ATTGTCTTCGATGTCACCAGGCCAGCCACATTTGAAGCAGTGGCAAAGTGGAAAAATGATTTGG
ACTCCAAGTTAAGTCTCCCTAATGGCAAACCGGTTTCAGTGGTTTTGTTGGCCAACAAATGTGA
CCAGGGGAAGGATGTGCTCATGAACAATGGCCTCAAGATGGACCAGTTCTGCAAGGAGCACGGT
TTCGTAGGATGGTTTGAAACATCAGCAAAGGAAAATATAAACATTGATGAAGCCTCCAGATGCC
TGGTGAAACACATACTTGCAAATGAGTGTGACCTAATGGAGTCTATTGAGCCGGACGTCGTGAA
GCCCCATCTCACATCAACCAAGGTTGCCAGCTGCTCTGGCTGTGCCAAATCCTAGTAGGCACCT
TTGCTGGTGTCTGGTAGGAATGACCTCATTGTTCCACAAATTGTGCCTCTATTTTTACCATTTT
GGGTAAACGTCAGGATAGAGATACCACATGTGGCAAGCCAAAGATCTATGCCTCTGTTTTTTCA
GTGAGAGAGAAATAGCAAATGTTCTTTCTATGCTTTCCTCACCATCATCACAGTGTTTACAAAC
TTTTGAAAATATTTAGTCTGTTACAAACTTCTGTCATGTAGCTGACCAAAATCCTGCAGGGCCA
CAGTCGGCACTGTTATTTGCTTCTTTTAATCAGCAAAGGCCTCAAGTCTTAAAATAAAAGGGGA
GAAGAACAAACTAGCTGTCAAGTCAAGGACTGGCTTTCACCTTGCCCTGGTGTCTTTTTCCAGA
TTTCAGTATATTCTCTGATGGCCTGACAGGCCTATTAAGTAGATGTGATATTTTCTCCCAAGAT
GACCTCCATTCTCGGCAGACCTAAGAGTTGCCTCTGAGTTAGCTCTTTGGAATCGTGAACACAG
GTGTGCTATATTGTCCTTGTCCTAACTGTCACTTGCCATGGCCTGAATGTTGGCTTAACTGAAT
ATTGTATGAAAAGACATGCCTCCATATGTGCCTTTCTGTTAGCTTTCTCTGACTCAAGCTGTGG
GGCTCCTCTATACATGCTATACATGTAATATATATTATATATATTTTTGCAAGTGAACAATAAA
ACATTAAAAGATGCTGTTTCCCTA

hide sequence

RefSeq Acc Id:

XM_017017455 ⟹ XP_016872944

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	87,818,687 - 88,175,443 (-)	NCBI

Sequence:

show sequence

CCCGCCCCGCCGCCCACGCCTCTCTCTGCACCTACACTTGCGCTCCCCAAGTCTCTCTCGTGCG
CAGAGCCCAGGCTGCGCTTCCCTGGTCAGGCACGGCACGTCTGGCCGGCCGCCAGGATGCAGGC
CCCGCACAAGGAGCACCTGTACAAGTTGCTGGTGATTGGCGACCTGGGCGTGGGGAAGACCAGT
ATCATCAAGCGCTACGTGCACCAGAACTTCTCTTCGCACTACCGGGCCACAATCGGCGTGGACT
TCGCGCTCAAGGTGCTCCACTGGGACCCGGAGACTGTGGTGCGCCTGCAGCTCTGGGATATCGC
AGGTCAAGAAAGATTTGGAAACATGACGAGGGTCTATTACCGAGAAGCTATGGGTGCATTTATT
GTCTTCGATGTCACCAGGCCAGCCACATTTGAAGCAGTGGCAAAGTGGAAAAATGATTTGGACT
CCAAGTTAAGTCTCCCTAATGGCAAACCGGTTTCAGTGGTTTTGTTGGCCAACAAATGTGACCA
GGGGAAGGATGTGCTCATGAACAATGGCCTCAAGATGGACCAGTTCTGCAAGGAGCACGGTTTC
GTAGGATGGTTTGAAACATCAGCAAAGGTTCTGGAGGTGGAGCTGACACTTGTTTCTTCTTTCA
TAAACACGGGATAATGCTTTTCATCCCAGATGAAAGGTGGCCTGTTGCTATGGAAATCTCTCCA
CACTATCTGCAGATATGAATCACACACTTGGTAGCACTACATCTGCAGTGCTGCAGTGAACCAT
ATGGAGAATTTACTGCAGCCAAAGGAGTCAAGTAAAAACTCTCTCCACAGATGGATTCAGCACT
TCAAAGGTTGAGGCAACTGTTCAATAGGTTACACTGCCTATTTCTCAGCAATACCAAAATTCAA
AAAGGCATTTGTCCTAAAAGACTAGATACACAGGTCCTGAGCTGTCACTTGAAGTGGGTAGGCA
AAGGGGCTGCTGTAAATAGAACTCCAACAGAAATCCGCAAACCTGAATTGGCAAACACAGTCTA
CCTATCAGAGTCGTCTGGTCTTCATTTGAATCCAGTTCATCACCAGTGTTATAGAATGCTACTA
GTTTATAAATTTATAATTTTTTCCTTTAGCTCTTGAAAAATATGAAGGCTTGTTTCATAAGAAT
TATTTAACTTGTGAAAATTGAATGGATGAATGGTAAATCACAAATTGAGAAGTTAATTCTTGAT
GGGTCTGGAGTTACAGTTGATATGAGCAGATAATGGTTCCAATTTGTAGACCACCCATATATGC
TATACCTTTATCTAAGTGTTTATATACATTATTTGATTTTATTTTTTAACATTCCTACAAAAAT
AAGTGTTATTAGCCCCATTTGACTGATCAAGAAAATAAATTTTTTTAAAAAAACTAGTAAGTCT
GTCACTTATAGTTTGTAAGTGTTGTGAAATTTGGGTTTCATTCAAGTCTATCTGACCCTAATGC
TTATTTTATTGCCACAATTAAAAATTTCTATTTGAGAGGTGTATGCATAGATCATGTGTCAAGC
CTATGCTCTGGAGTCAGAGTGCCTGTATCCAAATTTTAGCTCTGTCTTTGATTATCCATGTAAC
TTCAGGGTACTTACTTAACCACTCTTCTGTTCAGTTTTCTCACCTCTAAAATGGAGGTAATAAA
AATACTTACCTGGGAGGATTCTTGAGAAAATTAAATGACCTATTGCACAGGACCAGGAATAAGT
GCCAAGTAAATCTCAATAGTGTTATTATCATCGTGTTCATTCATTTGTTTTAAAATATGGCATA
CTAGTTTGAGGAATATAAAAATTATGAATTGTTTTCCCTTTCTTTTAGGGCAGCATGTTTACTA
GGGCAGTAGTTCCCAAACTAGTAGCAGCATCACCAGCTAGGAATTTTTTAGAAAAGCAAATTAT
CAAGCCTTATCCCAGATCTACTAAGAAAGAAACTCTGGAAATGGAGCTCCCGGCTATCTGTATT
TTAACAAGACCTTCAGGTGATTCTGACAAATGCAAAGCTTGAGAAATAGTATGGGACAAAAGAT
TTTGTATCTTTCCTAGTTTTACACAAGGCCAGCTGTGCCCAAGGGATGCTTTTAGAACCAATCC
TGGGGTGCTATGATTTTTCTAGTATCACTTCTCACACTTCGAATGGATGTTGCAATCACTTTGT
TCCTTTGAGCCCATCTAATCACTAAGATTCTTGATTAATAGTTCATCTTTTTGCCTCGACTGCA
TTTGAGATGATCAATTACTTCATAATAATTTCCTCTTGTGTGGAATGACATGAAACACTGTGAT
TATCACAGCCATTAGAAGATACTACTGGAATTTTTCAGAGTTGATGCAGACAGAATATTTAAAG
TGTCCCTAAAAGCAGACTAGTCTCTATTTTGCATAAAAATAATAACAATTAATGAAGTTTTTCC
AATTGAGGAATATGTGAACCAACTTTTAAAGGCTTTATTTATCCTAAGTTTTACAATGTTTATT
AAGGTTCATAAATAGAAAATGACATACTACCAAGCTTTCAGATAAGGCAGCTTCAATCCAGGAA
GCAAGCTCATAAGAATGTATGTTAAACTATTTCAAGACAAAAAAATTAAGTTAGTATCGATTTA
TCAATATTTTAAACAAATGATGCTGCTTAAATGACTTAAATGAGTTTTAACCTAAGTCTTTCTT
TAATCTATAAAACTACAGGATTGTTTCAATTGATCTCTTAAGATTCTTCTAACTGTAAGAAAAA
AATATGGTACAATGAATACATTGAAAATTATCATTTACATTGAGTAATAAAATGTTTAAATCCT
TCAGGAGTCTTTCTGGAGTGGAACCAGCTCTGACTAGGTAAAAGTTTAAAAGTTTTCAGCAAGG
TCTTGTGGGAACACTACCGATTTGTATACCTTATAGCAGTTCCAGGAAGCTCTGACATTTAGCA
GTTATGTAGAAGCTCCTGATTTGAACAGTTGGAAAATCCTAATTAGGTTGAAGGTGTTAGCTTA
TCTACCTAAATATCTTCATGTGATTTAAGGTCTATTAATATTGCCTACCTCATAAAATTAATCT
AAGGATGACATAAGCTTATGAATGATAATAAACCTAATAATTGATTCATATAGAATGAGCTCCA
CAAAATGCTGTTATTGTTCTAGCACAGTGGTCTTCAAACTTTGTATGTATTAGAATCATCTGGA
AGGGGTACCTGGTAAAAATATAGATTCTTAGCTTCCATCCCAGAAATAAAGTGGGTCACCCATA
TCTGCATTTTTACAAGCTCCCAGGATATTTAAAATACAGCATATTTTATGTATTATT

hide sequence

RefSeq Acc Id:

XM_017017456 ⟹ XP_016872945

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	87,803,715 - 88,175,443 (-)	NCBI

Sequence:

show sequence

CCCGCCCCGCCGCCCACGCCTCTCTCTGCACCTACACTTGCGCTCCCCAAGTCTCTCTCGTGCG
CAGAGCCCAGGCTGCGCTTCCCTGGTCAGGCACGGCACGTCTGGCCGGCCGCCAGGATGCAGGC
CCCGCACAAGGAGCACCTGTACAAGTTGCTGGTGATTGGCGACCTGGGCGTGGGGAAGACCAGT
ATCATCAAGCGCTACGTGCACCAGAACTTCTCTTCGCACTACCGGGCCACAATCGGCGTGGACT
TCGCGCTCAAGGTGCTCCACTGGGACCCGGAGACTGTGGTGCGCCTGCAGCTCTGGGATATCGC
AGGTCAAGAAAGATTTGGAAACATGACGAGGGTCTATTACCGAGAAGCTATGGGTGCATTTATT
GTCTTCGATGTCACCAGGCCAGCCACATTTGAAGCAGTGGCAAAGTGGAAAAATGATTTGGACT
CCAAGTTAAGTCTCCCTAATGGCAAACCGGTTTCAGTGGTTTTGTTGGCCAACAAATGTGACCA
GGGGAAGGATGTGCTCATGAACAATGGCCTCAAGATGGACCAGTTCTGCAAGGAGCACGGTTTC
GTAGGATGGTTTGAAACATCAGCAAAGGTTCTGGAGGTGGAGCTGACACTTGTTTCTTCTTTCA
TAAACACGGGATAATGCTTTTCATCCCAGATGAAAGGGCTACACAAAGTGGTG

hide sequence

Protein Sequences


Protein RefSeqs	NP_071732	(Get FASTA)	NCBI Sequence Viewer
	XP_016872944	(Get FASTA)	NCBI Sequence Viewer
	XP_016872945	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG30731	(Get FASTA)	NCBI Sequence Viewer
	AAH15808	(Get FASTA)	NCBI Sequence Viewer
	AAP88844	(Get FASTA)	NCBI Sequence Viewer
	AAP97262	(Get FASTA)	NCBI Sequence Viewer
	ABA03166	(Get FASTA)	NCBI Sequence Viewer
	EAW59365	(Get FASTA)	NCBI Sequence Viewer
	EAW59366	(Get FASTA)	NCBI Sequence Viewer
	P57729	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_071732 ⟸ NM_022337

- UniProtKB:

P57729 (UniProtKB/Swiss-Prot), A0A024R191 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MQAPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVRLQLW
DIAGQERFGNMTRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLSLPNGKPVSVVLLANK
CDQGKDVLMNNGLKMDQFCKEHGFVGWFETSAKENINIDEASRCLVKHILANECDLMESIEPDV
VKPHLTSTKVASCSGCAKS

hide sequence

RefSeq Acc Id:	XP_016872945 ⟸ XM_017017456
- Peptide Label:	isoform X1
- Sequence:	show sequence MQAPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVRLQLW DIAGQERFGNMTRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLSLPNGKPVSVVLLANK CDQGKDVLMNNGLKMDQFCKEHGFVGWFETSAKVLEVELTLVSSFINTG hide sequence

RefSeq Acc Id:	XP_016872944 ⟸ XM_017017455
- Peptide Label:	isoform X1
- Sequence:	show sequence MQAPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVRLQLW DIAGQERFGNMTRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLSLPNGKPVSVVLLANK CDQGKDVLMNNGLKMDQFCKEHGFVGWFETSAKVLEVELTLVSSFINTG hide sequence

RefSeq Acc Id:

ENSP00000435340 ⟸ ENST00000531138

RefSeq Acc Id:

ENSP00000243662 ⟸ ENST00000243662

RefSeq Acc Id:

ENSP00000433317 ⟸ ENST00000526372

Protein Structures

Name	Modeller	Protein Id	AA Range	Protein Structure	Video
AF-P57729-F1-model_v2	AlphaFold	P57729	1-211	view protein structure

Promoters

RGD ID:

6789290

Promoter ID:

HG_KWN:13897

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid, NB4

Transcripts:

ENST00000243662

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	87,547,731 - 87,548,231 (-)	MPROMDB

RGD ID:

7221769

Promoter ID:

EPDNEW_H16630

Type:

initiation region

Name:

RAB38_1

Description:

RAB38, member RAS oncogene family

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16631 EPDNEW_H16632 EPDNEW_H16633

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	88,175,441 - 88,175,501	EPDNEW

RGD ID:

7221771

Promoter ID:

EPDNEW_H16631

Type:

initiation region

Name:

RAB38_3

Description:

RAB38, member RAS oncogene family

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16630 EPDNEW_H16632 EPDNEW_H16633

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	88,175,569 - 88,175,629	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
NM_022337.2(RAB38):c.483+14143A>G	single nucleotide variant	Lung cancer [RCV000110384]	Chr11:88135532 [GRCh38] Chr11:87868700 [GRCh37] Chr11:11q14.2	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.2-14.3(chr11:87099219-91921385)	copy number loss	Abnormal esophagus morphology [RCV000416734]	Chr11:87099219..91921385 [GRCh37] Chr11:11q14.2-14.3	likely benign
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1	copy number loss	See cases [RCV000448436]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	copy number loss	Intellectual disability [RCV000721939]	Chr11:81771852..90851187 [GRCh37] Chr11:11q14.1-14.3	pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	copy number gain	not provided [RCV001006426]	Chr11:84830143..92029933 [GRCh37] Chr11:11q14.1-14.3	pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	copy number loss	not specified [RCV002052942]	Chr11:84924674..93574799 [GRCh37] Chr11:11q14.1-21	likely pathogenic
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9776	AgrOrtholog
COSMIC	RAB38	COSMIC
Ensembl Genes	ENSG00000123892	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000243662	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000433317	UniProtKB/TrEMBL
	ENSP00000435340	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000243662	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000526372	UniProtKB/TrEMBL
	ENST00000531138	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000123892	GTEx
HGNC ID	HGNC:9776	ENTREZGENE
Human Proteome Map	RAB38	Human Proteome Map
InterPro	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rab29/Rab38/Rab32	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Small_GTP-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Small_GTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:23682	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	23682	ENTREZGENE
OMIM	606281	OMIM
Pfam	Ras	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA34129	PharmGKB
PROSITE	RAB	UniProtKB/Swiss-Prot
	RAS	UniProtKB/TrEMBL
SMART	RHO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	small_GTP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024R191	ENTREZGENE, UniProtKB/TrEMBL
	H0YDB7_HUMAN	UniProtKB/TrEMBL
	H0YEA4_HUMAN	UniProtKB/TrEMBL
	P57729	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q53XK7	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 Disease Annotations - ClinVar