Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TBC1D14 (TBC1 domain family member 14)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)KIAA1322
Other alias-
HGNC (Hugo) TBC1D14
LocusID (NCBI) 57533
Atlas_Id 54688
Location 4p16.1  [Link to chromosome band 4p16]
Location_base_pair Starts at 6909444 and ends at 7033118 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TBC1D14 (4p16.1) / EVC (4p16.2)TBC1D14 (4p16.1) / HTRA3 (4p16.1)TBC1D14 (4p16.1) / TBC1D14 (4p16.1)
TBC1D14 4p16.1 / EVC 4p16.2TBC1D14 4p16.1 / HTRA3 4p16.1

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)TBC1D14   29246
Cards
Entrez_Gene (NCBI)TBC1D14  57533  TBC1 domain family member 14
Aliases
GeneCards (Weizmann)TBC1D14
Ensembl hg19 (Hinxton)ENSG00000132405 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132405 [Gene_View]  chr4:6909444-7033118 [Contig_View]  TBC1D14 [Vega]
ICGC DataPortalENSG00000132405
TCGA cBioPortalTBC1D14
AceView (NCBI)TBC1D14
Genatlas (Paris)TBC1D14
WikiGenes57533
SOURCE (Princeton)TBC1D14
Genetics Home Reference (NIH)TBC1D14
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D14  -     chr4:6909444-7033118 +  4p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D14  -     4p16.1   [Description]    (hg19-Feb_2009)
EnsemblTBC1D14 - 4p16.1 [CytoView hg19]  TBC1D14 - 4p16.1 [CytoView hg38]
Mapping of homologs : NCBITBC1D14 [Mapview hg19]  TBC1D14 [Mapview hg38]
OMIM614855   
Gene and transcription
Genbank (Entrez)AA724344 AB037743 AB449900 AK056962 AK295068
RefSeq transcript (Entrez)NM_001113361 NM_001113363 NM_001286805 NM_001330638 NM_020773
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D14
Cluster EST : UnigeneHs.518611 [ NCBI ]
CGAP (NCI)Hs.518611
Alternative Splicing GalleryENSG00000132405
Gene ExpressionTBC1D14 [ NCBI-GEO ]   TBC1D14 [ EBI - ARRAY_EXPRESS ]   TBC1D14 [ SEEK ]   TBC1D14 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57533
GTEX Portal (Tissue expression)TBC1D14
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2M4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2M4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2M4
Splice isoforms : SwissVarQ9P2M4
PhosPhoSitePlusQ9P2M4
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)TBC1D14
DMDM Disease mutations57533
Blocks (Seattle)TBC1D14
PDB (SRS)2QQ8   
PDB (PDBSum)2QQ8   
PDB (IMB)2QQ8   
PDB (RSDB)2QQ8   
Structural Biology KnowledgeBase2QQ8   
SCOP (Structural Classification of Proteins)2QQ8   
CATH (Classification of proteins structures)2QQ8   
SuperfamilyQ9P2M4
Human Protein AtlasENSG00000132405
Peptide AtlasQ9P2M4
HPRD11623
IPIIPI00002347   IPI00917914   IPI00908439   IPI00942460   IPI00915923   IPI00915751   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2M4
IntAct (EBI)Q9P2M4
FunCoupENSG00000132405
BioGRIDTBC1D14
STRING (EMBL)TBC1D14
ZODIACTBC1D14
Ontologies - Pathways
QuickGOQ9P2M4
Ontology : AmiGOGTPase activator activity  protein binding  nucleoplasm  autophagosome  Golgi apparatus  cytosol  intracellular protein transport  negative regulation of autophagy  Rab GTPase binding  protein kinase binding  regulation of vesicle fusion  intracellular membrane-bounded organelle  recycling endosome  recycling endosome  membrane organization  recycling endosome to Golgi transport  activation of GTPase activity  regulation of cilium assembly  regulation of autophagosome assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  nucleoplasm  autophagosome  Golgi apparatus  cytosol  intracellular protein transport  negative regulation of autophagy  Rab GTPase binding  protein kinase binding  regulation of vesicle fusion  intracellular membrane-bounded organelle  recycling endosome  recycling endosome  membrane organization  recycling endosome to Golgi transport  activation of GTPase activity  regulation of cilium assembly  regulation of autophagosome assembly  
NDEx NetworkTBC1D14
Atlas of Cancer Signalling NetworkTBC1D14
Wikipedia pathwaysTBC1D14
Orthology - Evolution
OrthoDB57533
GeneTree (enSembl)ENSG00000132405
Phylogenetic Trees/Animal Genes : TreeFamTBC1D14
HOVERGENQ9P2M4
HOGENOMQ9P2M4
Homologs : HomoloGeneTBC1D14
Homology/Alignments : Family Browser (UCSC)TBC1D14
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D14/EVC [4p16.1/4p16.2]  
Fusion : MitelmanTBC1D14/HTRA3 [4p16.1/4p16.1]  [t(4;4)(p16;p16)]  
Fusion: TCGATBC1D14 4p16.1 EVC 4p16.2 BRCA
Fusion: TCGATBC1D14 4p16.1 HTRA3 4p16.1 BLCA GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D14
dbVarTBC1D14
ClinVarTBC1D14
1000_GenomesTBC1D14 
Exome Variant ServerTBC1D14
ExAC (Exome Aggregation Consortium)TBC1D14 (select the gene name)
Genetic variants : HAPMAP57533
Genomic Variants (DGV)TBC1D14 [DGVbeta]
DECIPHERTBC1D14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D14 
Mutations
ICGC Data PortalTBC1D14 
TCGA Data PortalTBC1D14 
Broad Tumor PortalTBC1D14
OASIS PortalTBC1D14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D14
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 TBC1D14
DgiDB (Drug Gene Interaction Database)TBC1D14
DoCM (Curated mutations)TBC1D14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D14 (select a term)
intoGenTBC1D14
Cancer3DTBC1D14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614855   
Orphanet
MedgenTBC1D14
Genetic Testing Registry TBC1D14
NextProtQ9P2M4 [Medical]
TSGene57533
GENETestsTBC1D14
Huge Navigator TBC1D14 [HugePedia]
snp3D : Map Gene to Disease57533
BioCentury BCIQTBC1D14
ClinGenTBC1D14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57533
Chemical/Pharm GKB GenePA128394697
Clinical trialTBC1D14
Miscellaneous
canSAR (ICR)TBC1D14 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D14
EVEXTBC1D14
GoPubMedTBC1D14
iHOPTBC1D14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:40:17 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.