RAB38 (RAB38, member RAS oncogene family) - Rat Genome Database

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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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381187,803,715 - 88,175,443 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1188,113,251 - 88,175,443 (-)EnsemblGRCh38hg38GRCh38
GRCh371187,846,419 - 87,908,611 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361187,486,079 - 87,548,247 (-)NCBINCBI36hg18NCBI36
Build 341187,486,078 - 87,548,247NCBI
Celera1186,723,503 - 86,785,679 (+)NCBI
Cytogenetic Map11q14.2NCBI
HuRef1184,086,688 - 84,148,798 (-)NCBIHuRef
CHM1_11187,729,200 - 87,791,404 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381187,803,715 - 88,175,443 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1188,113,251 - 88,175,443 (-)EnsemblGRCh38hg38GRCh38
GRCh371187,846,419 - 87,908,611 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361187,486,079 - 87,548,247 (-)NCBINCBI36hg18NCBI36
Build 341187,486,078 - 87,548,247NCBI
Celera1186,723,503 - 86,785,679 (+)NCBI
Cytogenetic Map11q14.2NCBI
HuRef1184,086,688 - 84,148,798 (-)NCBIHuRef
CHM1_11187,729,200 - 87,791,404 (-)NCBICHM1_1
Rab38
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39788,079,481 - 88,140,780 (+)NCBIGRCm39mm39
GRCm39 Ensembl788,079,481 - 88,140,780 (+)Ensembl
GRCm38788,430,273 - 88,491,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl788,430,273 - 88,491,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv37795,578,783 - 95,640,082 (+)NCBIGRCm37mm9NCBIm37
MGSCv36788,305,465 - 88,366,764 (+)NCBImm8
Celera785,784,928 - 85,846,216 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map749.19NCBI
Rab38
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21142,182,566 - 142,262,923 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1142,182,556 - 142,262,924 (+)Ensembl
Rnor_6.01152,072,716 - 152,153,449 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1152,072,665 - 152,153,449 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01158,385,888 - 158,466,621 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41144,783,919 - 144,864,573 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11144,862,324 - 144,942,979 (+)NCBI
Celera1140,481,941 - 140,561,948 (+)NCBICelera
Cytogenetic Map1q32NCBI
Rab38
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554145,158,261 - 5,215,698 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554145,158,860 - 5,214,108 (+)NCBIChiLan1.0ChiLan1.0
RAB38
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11186,710,358 - 86,772,796 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1186,710,358 - 86,773,142 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01183,121,858 - 83,183,698 (-)NCBIMhudiblu_PPA_v0panPan3
RAB38
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12111,769,924 - 11,823,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2111,769,351 - 11,822,815 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2111,629,645 - 11,685,137 (+)NCBI
ROS_Cfam_1.02111,951,012 - 12,006,559 (+)NCBI
ROS_Cfam_1.0 Ensembl2111,950,427 - 12,014,114 (+)Ensembl
UMICH_Zoey_3.12111,739,658 - 11,795,116 (+)NCBI
UNSW_CanFamBas_1.02111,810,618 - 11,866,135 (+)NCBI
UU_Cfam_GSD_1.02111,864,785 - 11,920,329 (+)NCBI
Rab38
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494773,981,078 - 74,037,967 (-)NCBI
SpeTri2.0NW_0049367361,304,290 - 1,360,412 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB38
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl921,577,172 - 21,640,115 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1921,577,083 - 21,640,637 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2923,798,471 - 23,863,103 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAB38
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1179,256,996 - 79,316,967 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl179,256,835 - 79,316,789 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604346,404,298 - 46,464,013 (+)NCBIVero_WHO_p1.0
Rab38
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248451,908,410 - 1,983,897 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S4623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,890,667 - 87,890,763UniSTSGRCh37
Build 361187,530,315 - 87,530,411RGDNCBI36
Celera1186,741,348 - 86,741,444RGD
Cytogenetic Map11q14UniSTS
HuRef1184,130,684 - 84,130,780UniSTS
Stanford-G3 RH Map113865.0UniSTS
RH93854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,846,648 - 87,846,782UniSTSGRCh37
Build 361187,486,296 - 87,486,430RGDNCBI36
Celera1186,785,328 - 86,785,462RGD
Cytogenetic Map11q14UniSTS
HuRef1184,086,921 - 84,087,055UniSTS
GeneMap99-GB4 RH Map11302.61UniSTS
D11S2791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,330,318 - 74,330,461UniSTSGRCh37
GRCh371187,878,312 - 87,878,461UniSTSGRCh37
Build 361187,517,960 - 87,518,109RGDNCBI36
Celera1454,367,256 - 54,367,399UniSTS
Celera1186,753,650 - 86,753,799RGD
HuRef1454,497,365 - 54,497,508UniSTS
HuRef1184,118,329 - 84,118,478UniSTS
HuRef1947,581,695 - 47,581,994UniSTS
SHGC-144052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,876,443 - 87,876,782UniSTSGRCh37
Build 361187,516,091 - 87,516,430RGDNCBI36
Celera1186,755,329 - 86,755,668RGD
Cytogenetic Map11q14UniSTS
HuRef1184,116,465 - 84,116,799UniSTS
TNG Radiation Hybrid Map1140085.0UniSTS
RAB38_243.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,846,286 - 87,847,074UniSTSGRCh37
Build 361187,485,934 - 87,486,722RGDNCBI36
Celera1186,785,036 - 86,785,824RGD
HuRef1184,086,559 - 84,087,347UniSTS
STS-N33002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371187,846,506 - 87,846,654UniSTSGRCh37
Build 361187,486,154 - 87,486,302RGDNCBI36
Celera1186,785,456 - 86,785,604RGD
Cytogenetic Map11q14UniSTS
HuRef1184,086,779 - 84,086,927UniSTS
GeneMap99-GB4 RH Map11309.31UniSTS

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 1 5
Medium 67 60 440 46 406 19 1676 14 137 201 407 401 41 1 42 787 2
Low 2204 2176 1127 418 1270 289 1834 995 1261 210 1035 1165 129 1134 1184 4 2
Below cutoff 156 736 157 159 258 156 783 1110 2139 7 17 31 5 28 758

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 AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1188,113,251 - 88,175,443 (-)Ensembl
RefSeq Acc Id: ENST00000526372   ⟹   ENSP00000433317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1188,113,612 - 88,175,434 (-)Ensembl
RefSeq Acc Id: ENST00000531138   ⟹   ENSP00000435340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1188,113,464 - 88,175,433 (-)Ensembl
RefSeq Acc Id: NM_022337   ⟹   NP_071732
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381188,113,251 - 88,175,443 (-)NCBI
GRCh371187,846,415 - 87,908,635 (-)ENTREZGENE
Build 361187,486,079 - 87,548,247 (-)NCBI Archive
Celera1186,723,503 - 86,785,679 (+)RGD
HuRef1184,086,688 - 84,148,798 (-)ENTREZGENE
CHM1_11187,729,200 - 87,791,404 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017455   ⟹   XP_016872944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381187,818,687 - 88,175,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017456   ⟹   XP_016872945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381187,803,715 - 88,175,443 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071732   ⟸   NM_022337
- UniProtKB: P57729 (UniProtKB/Swiss-Prot),   A0A024R191 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872945   ⟸   XM_017017456
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872944   ⟸   XM_017017455
- Peptide Label: isoform X1
- 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 AssemblyChrPosition (strand)Source
Build 361187,547,731 - 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 AssemblyChrPosition (strand)Source
GRCh381188,175,441 - 88,175,501EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381188,175,569 - 88,175,629EPDNEW

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

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