Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D20 (TBC1 domain family member 20)

Identity

Alias_namesC20orf140
chromosome 20 open reading frame 140
TBC1 domain family, member 20
Alias_symbol (synonym)dJ852M4.2
Other aliasWARBM4
HGNC (Hugo) TBC1D20
LocusID (NCBI) 128637
Atlas_Id 74519
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 435477 and ends at 462553 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)
C5orf24 (5q31.1) / TBC1D20 (20p13)TBC1D20 (20p13) / FN1 (2q35)TBC1D20 (20p13) / RAB29 (1q32.1)

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

 


External links

Nomenclature
HGNC (Hugo)TBC1D20   16133
Cards
Entrez_Gene (NCBI)TBC1D20  128637  TBC1 domain family member 20
AliasesC20orf140; WARBM4
GeneCards (Weizmann)TBC1D20
Ensembl hg19 (Hinxton)ENSG00000125875 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125875 [Gene_View]  chr20:435477-462553 [Contig_View]  TBC1D20 [Vega]
ICGC DataPortalENSG00000125875
TCGA cBioPortalTBC1D20
AceView (NCBI)TBC1D20
Genatlas (Paris)TBC1D20
WikiGenes128637
SOURCE (Princeton)TBC1D20
Genetics Home Reference (NIH)TBC1D20
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D20  -     chr20:435477-462553 -  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D20  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblTBC1D20 - 20p13 [CytoView hg19]  TBC1D20 - 20p13 [CytoView hg38]
Mapping of homologs : NCBITBC1D20 [Mapview hg19]  TBC1D20 [Mapview hg38]
OMIM611663   615663   
Gene and transcription
Genbank (Entrez)AB449906 AF116909 AK055573 AK092063 AK095110
RefSeq transcript (Entrez)NM_144628
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D20
Cluster EST : UnigeneHs.590876 [ NCBI ]
CGAP (NCI)Hs.590876
Alternative Splicing GalleryENSG00000125875
Gene ExpressionTBC1D20 [ NCBI-GEO ]   TBC1D20 [ EBI - ARRAY_EXPRESS ]   TBC1D20 [ SEEK ]   TBC1D20 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D20 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)128637
GTEX Portal (Tissue expression)TBC1D20
Human Protein AtlasENSG00000125875-TBC1D20 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BZ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BZ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BZ9
Splice isoforms : SwissVarQ96BZ9
PhosPhoSitePlusQ96BZ9
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D20
DMDM Disease mutations128637
Blocks (Seattle)TBC1D20
PDB (SRS)4HL4    4HLQ   
PDB (PDBSum)4HL4    4HLQ   
PDB (IMB)4HL4    4HLQ   
PDB (RSDB)4HL4    4HLQ   
Structural Biology KnowledgeBase4HL4    4HLQ   
SCOP (Structural Classification of Proteins)4HL4    4HLQ   
CATH (Classification of proteins structures)4HL4    4HLQ   
SuperfamilyQ96BZ9
Human Protein Atlas [tissue]ENSG00000125875-TBC1D20 [tissue]
Peptide AtlasQ96BZ9
HPRD15472
IPIIPI00827616   IPI00140315   IPI00060314   IPI00022703   
Protein Interaction databases
DIP (DOE-UCLA)Q96BZ9
IntAct (EBI)Q96BZ9
FunCoupENSG00000125875
BioGRIDTBC1D20
STRING (EMBL)TBC1D20
ZODIACTBC1D20
Ontologies - Pathways
QuickGOQ96BZ9
Ontology : AmiGOacrosome assembly  GTPase activator activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  ER to Golgi vesicle-mediated transport  Golgi organization  Rab GTPase binding  virion assembly  integral component of Golgi membrane  nuclear membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  lipid particle organization  positive regulation of GTPase activity  positive regulation by host of viral genome replication  positive regulation by virus of viral protein levels in host cell  COPII vesicle coating  membrane organization  lens fiber cell morphogenesis  seminiferous tubule development  cargo loading into COPII-coated vesicle  regulation of cilium assembly  positive regulation of ER to Golgi vesicle-mediated transport  
Ontology : EGO-EBIacrosome assembly  GTPase activator activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  ER to Golgi vesicle-mediated transport  Golgi organization  Rab GTPase binding  virion assembly  integral component of Golgi membrane  nuclear membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  lipid particle organization  positive regulation of GTPase activity  positive regulation by host of viral genome replication  positive regulation by virus of viral protein levels in host cell  COPII vesicle coating  membrane organization  lens fiber cell morphogenesis  seminiferous tubule development  cargo loading into COPII-coated vesicle  regulation of cilium assembly  positive regulation of ER to Golgi vesicle-mediated transport  
NDEx NetworkTBC1D20
Atlas of Cancer Signalling NetworkTBC1D20
Wikipedia pathwaysTBC1D20
Orthology - Evolution
OrthoDB128637
GeneTree (enSembl)ENSG00000125875
Phylogenetic Trees/Animal Genes : TreeFamTBC1D20
HOVERGENQ96BZ9
HOGENOMQ96BZ9
Homologs : HomoloGeneTBC1D20
Homology/Alignments : Family Browser (UCSC)TBC1D20
Gene fusions - Rearrangements
Tumor Fusion PortalTBC1D20
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D20
dbVarTBC1D20
ClinVarTBC1D20
1000_GenomesTBC1D20 
Exome Variant ServerTBC1D20
ExAC (Exome Aggregation Consortium)ENSG00000125875
GNOMAD BrowserENSG00000125875
Genetic variants : HAPMAP128637
Genomic Variants (DGV)TBC1D20 [DGVbeta]
DECIPHERTBC1D20 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D20 
Mutations
ICGC Data PortalTBC1D20 
TCGA Data PortalTBC1D20 
Broad Tumor PortalTBC1D20
OASIS PortalTBC1D20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D20  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D20
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 TBC1D20
DgiDB (Drug Gene Interaction Database)TBC1D20
DoCM (Curated mutations)TBC1D20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D20 (select a term)
intoGenTBC1D20
Cancer3DTBC1D20(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611663    615663   
Orphanet2322   
DisGeNETTBC1D20
MedgenTBC1D20
Genetic Testing Registry TBC1D20
NextProtQ96BZ9 [Medical]
TSGene128637
GENETestsTBC1D20
Target ValidationTBC1D20
Huge Navigator TBC1D20 [HugePedia]
snp3D : Map Gene to Disease128637
BioCentury BCIQTBC1D20
ClinGenTBC1D20
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD128637
Chemical/Pharm GKB GenePA25683
Clinical trialTBC1D20
Miscellaneous
canSAR (ICR)TBC1D20 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D20
EVEXTBC1D20
GoPubMedTBC1D20
iHOPTBC1D20
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 21 13:42:22 CET 2017

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