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TTBK1 (tau tubulin kinase 1)

Identity

Alias_symbol (synonym)KIAA1855
Other aliasBDTK
HGNC (Hugo) TTBK1
LocusID (NCBI) 84630
Atlas_Id 43547
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 43243680 and ends at 43288259 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)
CRHR1 (17q21.31) / TTBK1 (6p21.1)ZNF254 (19p12) / TTBK1 (6p21.1)ZNF254 19p12 / TTBK1 6p21.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;19)(p21;p12) ZNF254/TTBK1


External links

Nomenclature
HGNC (Hugo)TTBK1   19140
Cards
Entrez_Gene (NCBI)TTBK1  84630  tau tubulin kinase 1
AliasesBDTK
GeneCards (Weizmann)TTBK1
Ensembl hg19 (Hinxton)ENSG00000146216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146216 [Gene_View]  ENSG00000146216 [Sequence]  chr6:43243680-43288259 [Contig_View]  TTBK1 [Vega]
ICGC DataPortalENSG00000146216
TCGA cBioPortalTTBK1
AceView (NCBI)TTBK1
Genatlas (Paris)TTBK1
WikiGenes84630
SOURCE (Princeton)TTBK1
Genetics Home Reference (NIH)TTBK1
Genomic and cartography
GoldenPath hg38 (UCSC)TTBK1  -     chr6:43243680-43288259 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTBK1  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblTTBK1 - 6p21.1 [CytoView hg19]  TTBK1 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBITTBK1 [Mapview hg19]  TTBK1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB058758 AB218664 AK055425 AK131217 AL833256
RefSeq transcript (Entrez)NM_032538
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TTBK1
Cluster EST : UnigeneHs.485436 [ NCBI ]
CGAP (NCI)Hs.485436
Alternative Splicing GalleryENSG00000146216
Gene ExpressionTTBK1 [ NCBI-GEO ]   TTBK1 [ EBI - ARRAY_EXPRESS ]   TTBK1 [ SEEK ]   TTBK1 [ MEM ]
Gene Expression Viewer (FireBrowse)TTBK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84630
GTEX Portal (Tissue expression)TTBK1
Human Protein AtlasENSG00000146216-TTBK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TCY1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TCY1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TCY1
Splice isoforms : SwissVarQ5TCY1
PhosPhoSitePlusQ5TCY1
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)TTBK1
DMDM Disease mutations84630
Blocks (Seattle)TTBK1
PDB (SRS)4BTJ    4BTK    4BTM    4NFM    4NFN   
PDB (PDBSum)4BTJ    4BTK    4BTM    4NFM    4NFN   
PDB (IMB)4BTJ    4BTK    4BTM    4NFM    4NFN   
PDB (RSDB)4BTJ    4BTK    4BTM    4NFM    4NFN   
Structural Biology KnowledgeBase4BTJ    4BTK    4BTM    4NFM    4NFN   
SCOP (Structural Classification of Proteins)4BTJ    4BTK    4BTM    4NFM    4NFN   
CATH (Classification of proteins structures)4BTJ    4BTK    4BTM    4NFM    4NFN   
SuperfamilyQ5TCY1
Human Protein Atlas [tissue]ENSG00000146216-TTBK1 [tissue]
Peptide AtlasQ5TCY1
HPRD11653
IPIIPI00064158   IPI00793581   IPI00746541   IPI00921466   
Protein Interaction databases
DIP (DOE-UCLA)Q5TCY1
IntAct (EBI)Q5TCY1
FunCoupENSG00000146216
BioGRIDTTBK1
STRING (EMBL)TTBK1
ZODIACTTBK1
Ontologies - Pathways
QuickGOQ5TCY1
Ontology : AmiGOprotein serine/threonine kinase activity  ATP binding  nucleoplasm  cytosol  microtubule associated complex  protein phosphorylation  learning or memory  positive regulation of gene expression  negative regulation of gene expression  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  substantia nigra development  negative regulation of protein binding  positive regulation of protein polymerization  neuronal cell body  perinuclear region of cytoplasm  positive regulation of astrocyte activation  positive regulation of microglial cell activation  positive regulation of cyclin-dependent protein kinase activity  positive regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIprotein serine/threonine kinase activity  ATP binding  nucleoplasm  cytosol  microtubule associated complex  protein phosphorylation  learning or memory  positive regulation of gene expression  negative regulation of gene expression  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  substantia nigra development  negative regulation of protein binding  positive regulation of protein polymerization  neuronal cell body  perinuclear region of cytoplasm  positive regulation of astrocyte activation  positive regulation of microglial cell activation  positive regulation of cyclin-dependent protein kinase activity  positive regulation of cysteine-type endopeptidase activity  
NDEx NetworkTTBK1
Atlas of Cancer Signalling NetworkTTBK1
Wikipedia pathwaysTTBK1
Orthology - Evolution
OrthoDB84630
GeneTree (enSembl)ENSG00000146216
Phylogenetic Trees/Animal Genes : TreeFamTTBK1
HOVERGENQ5TCY1
HOGENOMQ5TCY1
Homologs : HomoloGeneTTBK1
Homology/Alignments : Family Browser (UCSC)TTBK1
Gene fusions - Rearrangements
Fusion : MitelmanZNF254/TTBK1 [19p12/6p21.1]  [t(6;19)(p21;p12)]  
Fusion PortalZNF254 19p12 TTBK1 6p21.1 LUAD
Fusion : QuiverTTBK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTBK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTBK1
dbVarTTBK1
ClinVarTTBK1
1000_GenomesTTBK1 
Exome Variant ServerTTBK1
ExAC (Exome Aggregation Consortium)ENSG00000146216
GNOMAD BrowserENSG00000146216
Varsome BrowserTTBK1
Genetic variants : HAPMAP84630
Genomic Variants (DGV)TTBK1 [DGVbeta]
DECIPHERTTBK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTBK1 
Mutations
ICGC Data PortalTTBK1 
TCGA Data PortalTTBK1 
Broad Tumor PortalTTBK1
OASIS PortalTTBK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTBK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTTBK1
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 TTBK1
DgiDB (Drug Gene Interaction Database)TTBK1
DoCM (Curated mutations)TTBK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TTBK1 (select a term)
intoGenTTBK1
Cancer3DTTBK1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTTBK1
MedgenTTBK1
Genetic Testing Registry TTBK1
NextProtQ5TCY1 [Medical]
TSGene84630
GENETestsTTBK1
Target ValidationTTBK1
Huge Navigator TTBK1 [HugePedia]
snp3D : Map Gene to Disease84630
BioCentury BCIQTTBK1
ClinGenTTBK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84630
Chemical/Pharm GKB GenePA134866142
Clinical trialTTBK1
Miscellaneous
canSAR (ICR)TTBK1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTTBK1
EVEXTTBK1
GoPubMedTTBK1
iHOPTTBK1
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 : Tue Nov 6 11:47:20 CET 2018

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