Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBC1D9B (TBC1 domain family member 9B)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)KIAA0676
GRAMD9B
Other alias
HGNC (Hugo) TBC1D9B
LocusID (NCBI) 23061
Atlas_Id 54060
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179862071 and ends at 179907856 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)
SPOCK1 (5q31.2) / TBC1D9B (5q35.3)TBC1D9B (5q35.3) / KIF13A (6p22.3)TBC1D9B (5q35.3) / TENM2 (5q34)
TRPS1 (8q23.3) / TBC1D9B (5q35.3)TBC1D9B 5q35.3 ODZ2TRPS1 8q23.3 / TBC1D9B 5q35.3

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) [ 4 ]
  Prostate tumors: an overview
t(5;5)(q31;q35) SPOCK1/TBC1D9B
t(5;5)(q34;q35) TBC1D9B/TENM2
t(5;8)(q35;q23) TRPS1/TBC1D9B

External links

Nomenclature
HGNC (Hugo)TBC1D9B   29097
Cards
Entrez_Gene (NCBI)TBC1D9B  23061  TBC1 domain family member 9B
AliasesGRAMD9B
GeneCards (Weizmann)TBC1D9B
Ensembl hg19 (Hinxton)ENSG00000197226 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197226 [Gene_View]  ENSG00000197226 [Sequence]  chr5:179862071-179907856 [Contig_View]  TBC1D9B [Vega]
ICGC DataPortalENSG00000197226
TCGA cBioPortalTBC1D9B
AceView (NCBI)TBC1D9B
Genatlas (Paris)TBC1D9B
WikiGenes23061
SOURCE (Princeton)TBC1D9B
Genetics Home Reference (NIH)TBC1D9B
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D9B  -     chr5:179862071-179907856 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D9B  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblTBC1D9B - 5q35.3 [CytoView hg19]  TBC1D9B - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBITBC1D9B [Mapview hg19]  TBC1D9B [Mapview hg38]
OMIM618039   
Gene and transcription
Genbank (Entrez)AB014576 AB449893 AK001196 AK001473 AK026096
RefSeq transcript (Entrez)NM_015043 NM_198868
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D9B
Cluster EST : UnigeneHs.155829 [ NCBI ]
CGAP (NCI)Hs.155829
Alternative Splicing GalleryENSG00000197226
Gene ExpressionTBC1D9B [ NCBI-GEO ]   TBC1D9B [ EBI - ARRAY_EXPRESS ]   TBC1D9B [ SEEK ]   TBC1D9B [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D9B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23061
GTEX Portal (Tissue expression)TBC1D9B
Human Protein AtlasENSG00000197226-TBC1D9B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ66K14   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ66K14  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ66K14
Splice isoforms : SwissVarQ66K14
PhosPhoSitePlusQ66K14
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom    GRAM    PH-like_dom_sf    Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf    TCB1D9/TCB1D9B_PH-GRAM1    TCB1D9/TCB1D9B_PH-GRAM2   
Domain families : Pfam (Sanger)GRAM (PF02893)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam02893    pfam00566   
Domain families : Smart (EMBL)GRAM (SM00568)  TBC (SM00164)  
Conserved Domain (NCBI)TBC1D9B
DMDM Disease mutations23061
Blocks (Seattle)TBC1D9B
SuperfamilyQ66K14
Human Protein Atlas [tissue]ENSG00000197226-TBC1D9B [tissue]
Peptide AtlasQ66K14
HPRD10015
IPIIPI00307257   IPI00640908   IPI00983255   IPI00910303   IPI00909071   IPI00977271   IPI00973839   IPI00976395   
Protein Interaction databases
DIP (DOE-UCLA)Q66K14
IntAct (EBI)Q66K14
FunCoupENSG00000197226
BioGRIDTBC1D9B
STRING (EMBL)TBC1D9B
ZODIACTBC1D9B
Ontologies - Pathways
QuickGOQ66K14
Ontology : AmiGOGTPase activator activity  calcium ion binding  protein binding  cell  intracellular protein transport  integral component of membrane  Rab GTPase binding  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  calcium ion binding  protein binding  cell  intracellular protein transport  integral component of membrane  Rab GTPase binding  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D9B
Atlas of Cancer Signalling NetworkTBC1D9B
Wikipedia pathwaysTBC1D9B
Orthology - Evolution
OrthoDB23061
GeneTree (enSembl)ENSG00000197226
Phylogenetic Trees/Animal Genes : TreeFamTBC1D9B
HOGENOMQ66K14
Homologs : HomoloGeneTBC1D9B
Homology/Alignments : Family Browser (UCSC)TBC1D9B
Gene fusions - Rearrangements
Fusion : MitelmanSPOCK1/TBC1D9B [5q31.2/5q35.3]  [t(5;5)(q31;q35)]  
Fusion : MitelmanTBC1D9B/TENM2 [5q35.3/5q34]  [t(5;5)(q34;q35)]  
Fusion : MitelmanTRPS1/TBC1D9B [8q23.3/5q35.3]  [t(5;8)(q35;q23)]  
Fusion PortalTBC1D9B 5q35.3 ODZ2 LUAD
Fusion PortalTRPS1 8q23.3 TBC1D9B 5q35.3 BRCA
Fusion : QuiverTBC1D9B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D9B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D9B
dbVarTBC1D9B
ClinVarTBC1D9B
1000_GenomesTBC1D9B 
Exome Variant ServerTBC1D9B
ExAC (Exome Aggregation Consortium)ENSG00000197226
GNOMAD BrowserENSG00000197226
Varsome BrowserTBC1D9B
Genetic variants : HAPMAP23061
Genomic Variants (DGV)TBC1D9B [DGVbeta]
DECIPHERTBC1D9B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D9B 
Mutations
ICGC Data PortalTBC1D9B 
TCGA Data PortalTBC1D9B 
Broad Tumor PortalTBC1D9B
OASIS PortalTBC1D9B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D9B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D9B
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 TBC1D9B
DgiDB (Drug Gene Interaction Database)TBC1D9B
DoCM (Curated mutations)TBC1D9B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D9B (select a term)
intoGenTBC1D9B
Cancer3DTBC1D9B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618039   
Orphanet
DisGeNETTBC1D9B
MedgenTBC1D9B
Genetic Testing Registry TBC1D9B
NextProtQ66K14 [Medical]
TSGene23061
GENETestsTBC1D9B
Target ValidationTBC1D9B
Huge Navigator TBC1D9B [HugePedia]
snp3D : Map Gene to Disease23061
BioCentury BCIQTBC1D9B
ClinGenTBC1D9B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23061
Chemical/Pharm GKB GenePA145148062
Clinical trialTBC1D9B
Miscellaneous
canSAR (ICR)TBC1D9B (select the gene name)
DataMed IndexTBC1D9B
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D9B
EVEXTBC1D9B
GoPubMedTBC1D9B
iHOPTBC1D9B
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 : Thu Jan 17 18:41:40 CET 2019
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