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TBCCD1 (TBCC domain containing 1)

Identity

Alias_symbol (synonym)FLJ10560
Other alias-
HGNC (Hugo) TBCCD1
LocusID (NCBI) 55171
Atlas_Id 74541
Location 3q27.3  [Link to chromosome band 3q27]
Location_base_pair Starts at 186546067 and ends at 186570543 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)
ST6GAL1 (3q27.3) / TBCCD1 (3q27.3)TBCCD1 (3q27.3) / PAFAH1B2 (11q23.3)TBCCD1 (3q27.3) / PRPF3 (1q21.2)

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

 


External links

Nomenclature
HGNC (Hugo)TBCCD1   25546
Cards
Entrez_Gene (NCBI)TBCCD1  55171  TBCC domain containing 1
Aliases
GeneCards (Weizmann)TBCCD1
Ensembl hg19 (Hinxton)ENSG00000113838 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113838 [Gene_View]  chr3:186546067-186570543 [Contig_View]  TBCCD1 [Vega]
ICGC DataPortalENSG00000113838
TCGA cBioPortalTBCCD1
AceView (NCBI)TBCCD1
Genatlas (Paris)TBCCD1
WikiGenes55171
SOURCE (Princeton)TBCCD1
Genetics Home Reference (NIH)TBCCD1
Genomic and cartography
GoldenPath hg38 (UCSC)TBCCD1  -     chr3:186546067-186570543 -  3q27.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBCCD1  -     3q27.3   [Description]    (hg19-Feb_2009)
EnsemblTBCCD1 - 3q27.3 [CytoView hg19]  TBCCD1 - 3q27.3 [CytoView hg38]
Mapping of homologs : NCBITBCCD1 [Mapview hg19]  TBCCD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK001422 AK124362 BC025748 CA428099 DB023715
RefSeq transcript (Entrez)NM_001134415 NM_001286749 NM_018138
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBCCD1
Cluster EST : UnigeneHs.518469 [ NCBI ]
CGAP (NCI)Hs.518469
Alternative Splicing GalleryENSG00000113838
Gene ExpressionTBCCD1 [ NCBI-GEO ]   TBCCD1 [ EBI - ARRAY_EXPRESS ]   TBCCD1 [ SEEK ]   TBCCD1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBCCD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55171
GTEX Portal (Tissue expression)TBCCD1
Human Protein AtlasENSG00000113838-TBCCD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVR7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVR7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVR7
Splice isoforms : SwissVarQ9NVR7
PhosPhoSitePlusQ9NVR7
Domaine pattern : Prosite (Expaxy)C_CAP_COFACTOR_C (PS51329)   
Domains : Interpro (EBI)Adenylate_cyclase-assoc_CAP_C    C-CAP_CF_C-like    CAP/MinC_C    CARP_motif    Tubulin-bd_cofactor_C_dom   
Domain families : Pfam (Sanger)TBCC (PF07986)   
Domain families : Pfam (NCBI)pfam07986   
Domain families : Smart (EMBL)CARP (SM00673)  
Conserved Domain (NCBI)TBCCD1
DMDM Disease mutations55171
Blocks (Seattle)TBCCD1
SuperfamilyQ9NVR7
Human Protein Atlas [tissue]ENSG00000113838-TBCCD1 [tissue]
Peptide AtlasQ9NVR7
HPRD07684
IPIIPI00018696   IPI00924855   IPI00793115   IPI00927734   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVR7
IntAct (EBI)Q9NVR7
FunCoupENSG00000113838
BioGRIDTBCCD1
STRING (EMBL)TBCCD1
ZODIACTBCCD1
Ontologies - Pathways
QuickGOQ9NVR7
Ontology : AmiGOactin binding  cytoplasm  cytoskeleton organization  regulation of cell shape  regulation of cell migration  spindle pole centrosome  maintenance of centrosome location  maintenance of Golgi location  
Ontology : EGO-EBIactin binding  cytoplasm  cytoskeleton organization  regulation of cell shape  regulation of cell migration  spindle pole centrosome  maintenance of centrosome location  maintenance of Golgi location  
NDEx NetworkTBCCD1
Atlas of Cancer Signalling NetworkTBCCD1
Wikipedia pathwaysTBCCD1
Orthology - Evolution
OrthoDB55171
GeneTree (enSembl)ENSG00000113838
Phylogenetic Trees/Animal Genes : TreeFamTBCCD1
HOVERGENQ9NVR7
HOGENOMQ9NVR7
Homologs : HomoloGeneTBCCD1
Homology/Alignments : Family Browser (UCSC)TBCCD1
Gene fusions - Rearrangements
Fusion: Tumor Portal TBCCD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBCCD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBCCD1
dbVarTBCCD1
ClinVarTBCCD1
1000_GenomesTBCCD1 
Exome Variant ServerTBCCD1
ExAC (Exome Aggregation Consortium)ENSG00000113838
GNOMAD BrowserENSG00000113838
Genetic variants : HAPMAP55171
Genomic Variants (DGV)TBCCD1 [DGVbeta]
DECIPHERTBCCD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBCCD1 
Mutations
ICGC Data PortalTBCCD1 
TCGA Data PortalTBCCD1 
Broad Tumor PortalTBCCD1
OASIS PortalTBCCD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBCCD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBCCD1
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 TBCCD1
DgiDB (Drug Gene Interaction Database)TBCCD1
DoCM (Curated mutations)TBCCD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBCCD1 (select a term)
intoGenTBCCD1
Cancer3DTBCCD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTBCCD1
Genetic Testing Registry TBCCD1
NextProtQ9NVR7 [Medical]
TSGene55171
GENETestsTBCCD1
Target ValidationTBCCD1
Huge Navigator TBCCD1 [HugePedia]
snp3D : Map Gene to Disease55171
BioCentury BCIQTBCCD1
ClinGenTBCCD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55171
Chemical/Pharm GKB GenePA143485628
Clinical trialTBCCD1
Miscellaneous
canSAR (ICR)TBCCD1 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBCCD1
EVEXTBCCD1
GoPubMedTBCCD1
iHOPTBCCD1
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 Nov 9 12:31:50 CET 2017

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