Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBC1D5 (TBC1 domain family member 5)

Identity

Alias_namesTBC1 domain family, member 5
Alias_symbol (synonym)KIAA0210
Other alias-
HGNC (Hugo) TBC1D5
LocusID (NCBI) 9779
Atlas_Id 56345
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 17157162 and ends at 17740907 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)
MCM2 (3q21.3) / TBC1D5 (3p24.3)RPL30 (8q22.2) / TBC1D5 (3p24.3)TBC1D5 (3p24.3) / GNAO1 (16q12.2)
TBC1D5 (3p24.3) / HTT (4p16.3)TBC1D5 (3p24.3) / TMEM50B (21q22.11)TBC1D5 (3p24.3) / TOP2B (3p24.2)
TBC1D5 (3p24.3) / YLPM1 (14q24.3)ZFAND3 (6p21.2) / TBC1D5 (3p24.3)

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) [ 2 ]
  TBC1D5/TOP2B (3p24)
t(3;4)(p24;p16) TBC1D5/HTT

External links

Nomenclature
HGNC (Hugo)TBC1D5   19166
Cards
Entrez_Gene (NCBI)TBC1D5  9779  TBC1 domain family member 5
Aliases
GeneCards (Weizmann)TBC1D5
Ensembl hg19 (Hinxton)ENSG00000131374 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131374 [Gene_View]  ENSG00000131374 [Sequence]  chr3:17157162-17740907 [Contig_View]  TBC1D5 [Vega]
ICGC DataPortalENSG00000131374
TCGA cBioPortalTBC1D5
AceView (NCBI)TBC1D5
Genatlas (Paris)TBC1D5
WikiGenes9779
SOURCE (Princeton)TBC1D5
Genetics Home Reference (NIH)TBC1D5
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D5  -     chr3:17157162-17740907 -  3p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D5  -     3p24.3   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D5 - 3p24.3 [CytoView hg19]  TBC1D5 - 3p24.3 [CytoView hg38]
Genome Data Viewer NCBITBC1D5 [Mapview hg19]  
OMIM615740   
Gene and transcription
Genbank (Entrez)AB449886 AK097990 AK309374 AK310539 BC013145
RefSeq transcript (Entrez)NM_001134380 NM_001134381 NM_001349073 NM_001349074 NM_001349075 NM_001349076 NM_001349077 NM_001349078 NM_001349079 NM_001349080 NM_001349081 NM_001349082 NM_001349083 NM_001349084 NM_001349085 NM_001349086 NM_001349087 NM_001349088 NM_001349089 NM_001349090 NM_001349091 NM_014744
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D5
Alternative Splicing GalleryENSG00000131374
Gene ExpressionTBC1D5 [ NCBI-GEO ]   TBC1D5 [ EBI - ARRAY_EXPRESS ]   TBC1D5 [ SEEK ]   TBC1D5 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D5 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9779
GTEX Portal (Tissue expression)TBC1D5
Human Protein AtlasENSG00000131374-TBC1D5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92609   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92609  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92609
Splice isoforms : SwissVarQ92609
PhosPhoSitePlusQ92609
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)TBC1D5
DMDM Disease mutations9779
PDB (RSDB)5GTU   
PDB Europe5GTU   
PDB (PDBSum)5GTU   
PDB (IMB)5GTU   
Structural Biology KnowledgeBase5GTU   
SCOP (Structural Classification of Proteins)5GTU   
CATH (Classification of proteins structures)5GTU   
SuperfamilyQ92609
Human Protein Atlas [tissue]ENSG00000131374-TBC1D5 [tissue]
Peptide AtlasQ92609
HPRD10262
IPIIPI00022450   IPI00910882   IPI00924677   IPI00925488   IPI00925714   IPI00926310   IPI00927358   IPI00926716   IPI00927162   IPI00927570   IPI00927783   IPI00927664   IPI00927912   IPI01014340   
Protein Interaction databases
DIP (DOE-UCLA)Q92609
IntAct (EBI)Q92609
FunCoupENSG00000131374
BioGRIDTBC1D5
STRING (EMBL)TBC1D5
ZODIACTBC1D5
Ontologies - Pathways
QuickGOQ92609
Ontology : AmiGOpositive regulation of receptor internalization  GTPase activator activity  protein binding  autophagosome  Golgi apparatus  cytosol  intracellular protein transport  autophagy  endosome membrane  macroautophagy  Rab GTPase binding  AP-2 adaptor complex  retromer complex  AP-2 adaptor complex binding  retrograde transport, endosome to Golgi  response to starvation  intracellular membrane-bounded organelle  protein-containing complex binding  activation of GTPase activity  regulation of cilium assembly  retromer complex binding  Atg1/ULK1 kinase complex  
Ontology : EGO-EBIpositive regulation of receptor internalization  GTPase activator activity  protein binding  autophagosome  Golgi apparatus  cytosol  intracellular protein transport  autophagy  endosome membrane  macroautophagy  Rab GTPase binding  AP-2 adaptor complex  retromer complex  AP-2 adaptor complex binding  retrograde transport, endosome to Golgi  response to starvation  intracellular membrane-bounded organelle  protein-containing complex binding  activation of GTPase activity  regulation of cilium assembly  retromer complex binding  Atg1/ULK1 kinase complex  
NDEx NetworkTBC1D5
Atlas of Cancer Signalling NetworkTBC1D5
Wikipedia pathwaysTBC1D5
Orthology - Evolution
OrthoDB9779
GeneTree (enSembl)ENSG00000131374
Phylogenetic Trees/Animal Genes : TreeFamTBC1D5
HOGENOMQ92609
Homologs : HomoloGeneTBC1D5
Homology/Alignments : Family Browser (UCSC)TBC1D5
Gene fusions - Rearrangements
Fusion : QuiverTBC1D5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D5
dbVarTBC1D5
ClinVarTBC1D5
1000_GenomesTBC1D5 
Exome Variant ServerTBC1D5
GNOMAD BrowserENSG00000131374
Varsome BrowserTBC1D5
Genetic variants : HAPMAP9779
Genomic Variants (DGV)TBC1D5 [DGVbeta]
DECIPHERTBC1D5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D5 
Mutations
ICGC Data PortalTBC1D5 
TCGA Data PortalTBC1D5 
Broad Tumor PortalTBC1D5
OASIS PortalTBC1D5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBC1D5
Mutations and Diseases : HGMDTBC1D5
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
BioMutaselect TBC1D5
DgiDB (Drug Gene Interaction Database)TBC1D5
DoCM (Curated mutations)TBC1D5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D5 (select a term)
intoGenTBC1D5
Cancer3DTBC1D5 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615740   
Orphanet
DisGeNETTBC1D5
MedgenTBC1D5
Genetic Testing Registry TBC1D5
NextProtQ92609 [Medical]
TSGene9779
GENETestsTBC1D5
Open Targets GeneticsENSG00000131374  [validation]
snp3D : Map Gene to Disease9779
BioCentury BCIQTBC1D5
ClinGenTBC1D5
Clinical trials, drugs, therapy
Protein Interactions : CTD9779
Pharm GKB GenePA38808
Clinical trialTBC1D5
Miscellaneous
canSAR (ICR)TBC1D5 (select the gene name)
HarmonizomeTBC1D5
DataMed IndexTBC1D5
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D5
EVEXTBC1D5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:14:43 CEST 2020
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