Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBC1D8B (TBC1 domain family member 8B)

Identity

Alias_namesTBC1 domain family, member 8B (with GRAM domain)
Alias_symbol (synonym)FLJ20298
RP11-321G1.1
GRAMD8B
Other aliasNPHS20
HGNC (Hugo) TBC1D8B
LocusID (NCBI) 54885
Atlas_Id 56024
Location Xq22.3  [Link to chromosome band Xq22]
Location_base_pair Starts at 106802689 and ends at 106849836 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)
FN1 (2q35) / TBC1D8B (Xq22.3)TBC1D8B (Xq22.3) / RNF128 (Xq22.3)

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) [ 1 ]
  TBC1D8B/RNF128 (Xq22)

External links

Nomenclature
HGNC (Hugo)TBC1D8B   24715
Cards
Entrez_Gene (NCBI)TBC1D8B  54885  TBC1 domain family member 8B
AliasesGRAMD8B; NPHS20
GeneCards (Weizmann)TBC1D8B
Ensembl hg19 (Hinxton)ENSG00000133138 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133138 [Gene_View]  ENSG00000133138 [Sequence]  chrX:106802689-106849836 [Contig_View]  TBC1D8B [Vega]
ICGC DataPortalENSG00000133138
TCGA cBioPortalTBC1D8B
AceView (NCBI)TBC1D8B
Genatlas (Paris)TBC1D8B
WikiGenes54885
SOURCE (Princeton)TBC1D8B
Genetics Home Reference (NIH)TBC1D8B
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D8B  -     chrX:106802689-106849836 +  Xq22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D8B  -     Xq22.3   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D8B - Xq22.3 [CytoView hg19]  TBC1D8B - Xq22.3 [CytoView hg38]
ImmunoBaseENSG00000133138
Mapping of homologs : NCBITBC1D8B [Mapview hg19]  TBC1D8B [Mapview hg38]
OMIM301027   301028   
Gene and transcription
Genbank (Entrez)AB449890 AB449891 AK000305 AK091248 AK123957
RefSeq transcript (Entrez)NM_017752 NM_198881
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D8B
Cluster EST : UnigeneHs.351798 [ NCBI ]
CGAP (NCI)Hs.351798
Alternative Splicing GalleryENSG00000133138
Gene ExpressionTBC1D8B [ NCBI-GEO ]   TBC1D8B [ EBI - ARRAY_EXPRESS ]   TBC1D8B [ SEEK ]   TBC1D8B [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D8B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54885
GTEX Portal (Tissue expression)TBC1D8B
Human Protein AtlasENSG00000133138-TBC1D8B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0IIM8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0IIM8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0IIM8
Splice isoforms : SwissVarQ0IIM8
PhosPhoSitePlusQ0IIM8
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    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    TBC1D8B_PH-GRAM1    TBC1D8B_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)TBC1D8B
DMDM Disease mutations54885
Blocks (Seattle)TBC1D8B
SuperfamilyQ0IIM8
Human Protein Atlas [tissue]ENSG00000133138-TBC1D8B [tissue]
Peptide AtlasQ0IIM8
HPRD06529
IPIIPI00394744   IPI00873623   IPI00966158   IPI00964546   IPI00967956   IPI00419174   
Protein Interaction databases
DIP (DOE-UCLA)Q0IIM8
IntAct (EBI)Q0IIM8
FunCoupENSG00000133138
BioGRIDTBC1D8B
STRING (EMBL)TBC1D8B
ZODIACTBC1D8B
Ontologies - Pathways
QuickGOQ0IIM8
Ontology : AmiGOGTPase activator activity  calcium ion binding  cell  intracellular protein transport  Rab GTPase binding  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  calcium ion binding  cell  intracellular protein transport  Rab GTPase binding  activation of GTPase activity  
NDEx NetworkTBC1D8B
Atlas of Cancer Signalling NetworkTBC1D8B
Wikipedia pathwaysTBC1D8B
Orthology - Evolution
OrthoDB54885
GeneTree (enSembl)ENSG00000133138
Phylogenetic Trees/Animal Genes : TreeFamTBC1D8B
HOGENOMQ0IIM8
Homologs : HomoloGeneTBC1D8B
Homology/Alignments : Family Browser (UCSC)TBC1D8B
Gene fusions - Rearrangements
Fusion : QuiverTBC1D8B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D8B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D8B
dbVarTBC1D8B
ClinVarTBC1D8B
1000_GenomesTBC1D8B 
Exome Variant ServerTBC1D8B
ExAC (Exome Aggregation Consortium)ENSG00000133138
GNOMAD BrowserENSG00000133138
Varsome BrowserTBC1D8B
Genetic variants : HAPMAP54885
Genomic Variants (DGV)TBC1D8B [DGVbeta]
DECIPHERTBC1D8B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D8B 
Mutations
ICGC Data PortalTBC1D8B 
TCGA Data PortalTBC1D8B 
Broad Tumor PortalTBC1D8B
OASIS PortalTBC1D8B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D8B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBC1D8B
Mutations and Diseases : HGMDTBC1D8B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch TBC1D8B
DgiDB (Drug Gene Interaction Database)TBC1D8B
DoCM (Curated mutations)TBC1D8B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D8B (select a term)
intoGenTBC1D8B
Cancer3DTBC1D8B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM301027    301028   
Orphanet
DisGeNETTBC1D8B
MedgenTBC1D8B
Genetic Testing Registry TBC1D8B
NextProtQ0IIM8 [Medical]
TSGene54885
GENETestsTBC1D8B
Target ValidationTBC1D8B
Huge Navigator TBC1D8B [HugePedia]
snp3D : Map Gene to Disease54885
BioCentury BCIQTBC1D8B
ClinGenTBC1D8B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54885
Chemical/Pharm GKB GenePA145148061
Clinical trialTBC1D8B
Miscellaneous
canSAR (ICR)TBC1D8B (select the gene name)
DataMed IndexTBC1D8B
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D8B
EVEXTBC1D8B
GoPubMedTBC1D8B
iHOPTBC1D8B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:11:01 CET 2019
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