Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TBC1D10A (TBC1 domain family member 10A)

Identity

Alias (NCBI)EPI64
TBC1D10
dJ130H16.1
dJ130H16.2
HGNC (Hugo) TBC1D10A
HGNC Alias symbEPI64
AC004997.C22.2
HGNC Alias nameEBP50-PDZ interactor of 64 kD
HGNC Previous nameTBC1D10
HGNC Previous nameTBC1 domain family, member 10
 TBC1 domain family, member 10A
LocusID (NCBI) 83874
Atlas_Id 56475
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 30291990 and ends at 30326941 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DANCR (4q12) / TBC1D10A (22q12.2)MALAT1 (11q13.1) / TBC1D10A (22q12.2)TBC1D10A (22q12.2) / POLR3H (22q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(22;22)(q12;q13) TBC1D10A/POLR3H

External links

Nomenclature
HGNC (Hugo)TBC1D10A   23609
Cards
Entrez_Gene (NCBI)TBC1D10A    TBC1 domain family member 10A
AliasesEPI64; TBC1D10; dJ130H16.1; dJ130H16.2
GeneCards (Weizmann)TBC1D10A
Ensembl hg19 (Hinxton)ENSG00000099992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099992 [Gene_View]  ENSG00000099992 [Sequence]  chr22:30291990-30326941 [Contig_View]  TBC1D10A [Vega]
ICGC DataPortalENSG00000099992
TCGA cBioPortalTBC1D10A
AceView (NCBI)TBC1D10A
Genatlas (Paris)TBC1D10A
SOURCE (Princeton)TBC1D10A
Genetics Home Reference (NIH)TBC1D10A
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D10A  -     chr22:30291990-30326941 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D10A  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D10A - 22q12.2 [CytoView hg19]  TBC1D10A - 22q12.2 [CytoView hg38]
ImmunoBaseENSG00000099992
genome Data Viewer NCBITBC1D10A [Mapview hg19]  
OMIM610020   
Gene and transcription
Genbank (Entrez)AB449894 AF331038 AK074656 AK093231 AK127939
RefSeq transcript (Entrez)NM_001204240 NM_031937
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D10A
Alternative Splicing GalleryENSG00000099992
Gene ExpressionTBC1D10A [ NCBI-GEO ]   TBC1D10A [ EBI - ARRAY_EXPRESS ]   TBC1D10A [ SEEK ]   TBC1D10A [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D10A [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D10A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83874
GTEX Portal (Tissue expression)TBC1D10A
Human Protein AtlasENSG00000099992-TBC1D10A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXI6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXI6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXI6
Splice isoforms : SwissVarQ9BXI6
PhosPhoSitePlusQ9BXI6
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D10A
Blocks (Seattle)TBC1D10A
SuperfamilyQ9BXI6
Human Protein Atlas [tissue]ENSG00000099992-TBC1D10A [tissue]
Peptide AtlasQ9BXI6
HPRD18162
IPIIPI00011167   IPI00442351   IPI00877716   IPI00878197   IPI00879220   IPI00879455   IPI00879278   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXI6
IntAct (EBI)Q9BXI6
BioGRIDTBC1D10A
STRING (EMBL)TBC1D10A
ZODIACTBC1D10A
Ontologies - Pathways
QuickGOQ9BXI6
Ontology : AmiGOguanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytosol  plasma membrane  microvillus  intracellular protein transport  Rab GTPase binding  PDZ domain binding  retrograde transport, endosome to Golgi  cadherin binding  positive regulation of proteolysis  extracellular exosome  activation of GTPase activity  activation of cysteine-type endopeptidase activity  regulation of cilium assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytosol  plasma membrane  microvillus  intracellular protein transport  Rab GTPase binding  PDZ domain binding  retrograde transport, endosome to Golgi  cadherin binding  positive regulation of proteolysis  extracellular exosome  activation of GTPase activity  activation of cysteine-type endopeptidase activity  regulation of cilium assembly  
NDEx NetworkTBC1D10A
Atlas of Cancer Signalling NetworkTBC1D10A
Wikipedia pathwaysTBC1D10A
Orthology - Evolution
OrthoDB83874
GeneTree (enSembl)ENSG00000099992
Phylogenetic Trees/Animal Genes : TreeFamTBC1D10A
HOGENOMQ9BXI6
Homologs : HomoloGeneTBC1D10A
Homology/Alignments : Family Browser (UCSC)TBC1D10A
Gene fusions - Rearrangements
Fusion : QuiverTBC1D10A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D10A [hg38]
dbVarTBC1D10A
ClinVarTBC1D10A
MonarchTBC1D10A
1000_GenomesTBC1D10A 
Exome Variant ServerTBC1D10A
GNOMAD BrowserENSG00000099992
Varsome BrowserTBC1D10A
Genomic Variants (DGV)TBC1D10A [DGVbeta]
DECIPHERTBC1D10A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D10A 
Mutations
ICGC Data PortalTBC1D10A 
TCGA Data PortalTBC1D10A 
Broad Tumor PortalTBC1D10A
OASIS PortalTBC1D10A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D10A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBC1D10A
Mutations and Diseases : HGMDTBC1D10A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TBC1D10A
DgiDB (Drug Gene Interaction Database)TBC1D10A
DoCM (Curated mutations)TBC1D10A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D10A (select a term)
intoGenTBC1D10A
Cancer3DTBC1D10A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610020   
Orphanet
DisGeNETTBC1D10A
MedgenTBC1D10A
Genetic Testing Registry TBC1D10A
NextProtQ9BXI6 [Medical]
GENETestsTBC1D10A
Target ValidationTBC1D10A
Huge Navigator TBC1D10A [HugePedia]
ClinGenTBC1D10A
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D10A
Protein Interactions : CTD
Pharm GKB GenePA134888210
PharosQ9BXI6
Clinical trialTBC1D10A
Miscellaneous
canSAR (ICR)TBC1D10A (select the gene name)
HarmonizomeTBC1D10A
DataMed IndexTBC1D10A
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D10A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:40:25 CET 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.