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TBC1D15 (TBC1 domain family member 15)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)FLJ12085
DKFZp761D0223
Other aliasRAB7-GAP
HGNC (Hugo) TBC1D15
LocusID (NCBI) 64786
Atlas_Id 54689
Location 12q21.1  [Link to chromosome band 12q21]
Location_base_pair Starts at 71839707 and ends at 71926849 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)
DIP2B (12q13.12) / TBC1D15 (12q21.1)RAB21 (12q21.1) / TBC1D15 (12q21.1)TBC1D15 (12q21.1) / ATF7IP (12p13.1)
TBC1D15 (12q21.1) / BMPER (7p14.3)TBC1D15 (12q21.1) / METTL25 (12q21.31)TBC1D15 (12q21.1) / RP11-419C5.2 ()
TBC1D15 (12q21.1) / TBC1D15 (12q21.1)DIP2B 12q13.12 / TBC1D15 12q21.1TBC1D15 12q21.1 / BMPER 7p14.3
TBC1D15 12q21.1 RP11-419C5.2

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  dup(12)(q21q21) RAB21/TBC1D15


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(7;12)(p14;q21) TBC1D15/BMPER
t(12;12)(q13;q21) DIP2B/TBC1D15
TBC1D15/METTL25 (12q21)


External links

Nomenclature
HGNC (Hugo)TBC1D15   25694
Cards
Entrez_Gene (NCBI)TBC1D15  64786  TBC1 domain family member 15
AliasesRAB7-GAP
GeneCards (Weizmann)TBC1D15
Ensembl hg19 (Hinxton)ENSG00000121749 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121749 [Gene_View]  ENSG00000121749 [Sequence]  chr12:71839707-71926849 [Contig_View]  TBC1D15 [Vega]
ICGC DataPortalENSG00000121749
TCGA cBioPortalTBC1D15
AceView (NCBI)TBC1D15
Genatlas (Paris)TBC1D15
WikiGenes64786
SOURCE (Princeton)TBC1D15
Genetics Home Reference (NIH)TBC1D15
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D15  -     chr12:71839707-71926849 +  12q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D15  -     12q21.1   [Description]    (hg19-Feb_2009)
EnsemblTBC1D15 - 12q21.1 [CytoView hg19]  TBC1D15 - 12q21.1 [CytoView hg38]
Mapping of homologs : NCBITBC1D15 [Mapview hg19]  TBC1D15 [Mapview hg38]
OMIM612662   
Gene and transcription
Genbank (Entrez)AB449901 AI590346 AK022147 AK090510 AK225221
RefSeq transcript (Entrez)NM_001146213 NM_001146214 NM_022771
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D15
Cluster EST : UnigeneHs.284630 [ NCBI ]
CGAP (NCI)Hs.284630
Alternative Splicing GalleryENSG00000121749
Gene ExpressionTBC1D15 [ NCBI-GEO ]   TBC1D15 [ EBI - ARRAY_EXPRESS ]   TBC1D15 [ SEEK ]   TBC1D15 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D15 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64786
GTEX Portal (Tissue expression)TBC1D15
Human Protein AtlasENSG00000121749-TBC1D15 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TC07   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TC07  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TC07
Splice isoforms : SwissVarQ8TC07
PhosPhoSitePlusQ8TC07
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)DUF3548    Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf   
Domain families : Pfam (Sanger)DUF3548 (PF12068)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam12068    pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D15
DMDM Disease mutations64786
Blocks (Seattle)TBC1D15
SuperfamilyQ8TC07
Human Protein Atlas [tissue]ENSG00000121749-TBC1D15 [tissue]
Peptide AtlasQ8TC07
HPRD15470
IPIIPI00154645   IPI00794613   IPI01009146   IPI00793999   IPI00945751   IPI00795659   IPI00945742   IPI00946119   
Protein Interaction databases
DIP (DOE-UCLA)Q8TC07
IntAct (EBI)Q8TC07
FunCoupENSG00000121749
BioGRIDTBC1D15
STRING (EMBL)TBC1D15
ZODIACTBC1D15
Ontologies - Pathways
QuickGOQ8TC07
Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  extracellular region  cytoplasm  intracellular protein transport  Rab GTPase binding  regulation of GTPase activity  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  extracellular region  cytoplasm  intracellular protein transport  Rab GTPase binding  regulation of GTPase activity  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D15
Atlas of Cancer Signalling NetworkTBC1D15
Wikipedia pathwaysTBC1D15
Orthology - Evolution
OrthoDB64786
GeneTree (enSembl)ENSG00000121749
Phylogenetic Trees/Animal Genes : TreeFamTBC1D15
HOVERGENQ8TC07
HOGENOMQ8TC07
Homologs : HomoloGeneTBC1D15
Homology/Alignments : Family Browser (UCSC)TBC1D15
Gene fusions - Rearrangements
Fusion : MitelmanDIP2B/TBC1D15 [12q13.12/12q21.1]  [t(12;12)(q13;q21)]  
Fusion : MitelmanRAB21/TBC1D15 [12q21.1/12q21.1]  [dup(12)(q21q21)]  
Fusion : MitelmanTBC1D15/BMPER [12q21.1/7p14.3]  [t(7;12)(p14;q21)]  
Fusion : MitelmanTBC1D15/C12orf26 [12q21.1/t(12;12)(q21;q21)]  
Fusion PortalDIP2B 12q13.12 TBC1D15 12q21.1 SKCM
Fusion PortalTBC1D15 12q21.1 BMPER 7p14.3 LGG
Fusion PortalTBC1D15 12q21.1 RP11-419C5.2 BLCA
Fusion : QuiverTBC1D15
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D15
dbVarTBC1D15
ClinVarTBC1D15
1000_GenomesTBC1D15 
Exome Variant ServerTBC1D15
ExAC (Exome Aggregation Consortium)ENSG00000121749
GNOMAD BrowserENSG00000121749
Varsome BrowserTBC1D15
Genetic variants : HAPMAP64786
Genomic Variants (DGV)TBC1D15 [DGVbeta]
DECIPHERTBC1D15 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D15 
Mutations
ICGC Data PortalTBC1D15 
TCGA Data PortalTBC1D15 
Broad Tumor PortalTBC1D15
OASIS PortalTBC1D15 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D15  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D15
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 TBC1D15
DgiDB (Drug Gene Interaction Database)TBC1D15
DoCM (Curated mutations)TBC1D15 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D15 (select a term)
intoGenTBC1D15
Cancer3DTBC1D15(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612662   
Orphanet
DisGeNETTBC1D15
MedgenTBC1D15
Genetic Testing Registry TBC1D15
NextProtQ8TC07 [Medical]
TSGene64786
GENETestsTBC1D15
Target ValidationTBC1D15
Huge Navigator TBC1D15 [HugePedia]
snp3D : Map Gene to Disease64786
BioCentury BCIQTBC1D15
ClinGenTBC1D15
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64786
Chemical/Pharm GKB GenePA134946839
Clinical trialTBC1D15
Miscellaneous
canSAR (ICR)TBC1D15 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D15
EVEXTBC1D15
GoPubMedTBC1D15
iHOPTBC1D15
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:43:46 CET 2018

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