Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BTC (betacellulin)

Identity

Other alias-
HGNC (Hugo) BTC
LocusID (NCBI) 685
Atlas_Id 45533
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 74744760 and ends at 74794686 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)
BTC (4q13.3) / SPIN1 (9q22.1)

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)BTC   1121
Cards
Entrez_Gene (NCBI)BTC  685  betacellulin
Aliases
GeneCards (Weizmann)BTC
Ensembl hg19 (Hinxton)ENSG00000174808 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174808 [Gene_View]  chr4:74744760-74794686 [Contig_View]  BTC [Vega]
ICGC DataPortalENSG00000174808
TCGA cBioPortalBTC
AceView (NCBI)BTC
Genatlas (Paris)BTC
WikiGenes685
SOURCE (Princeton)BTC
Genetics Home Reference (NIH)BTC
Genomic and cartography
GoldenPath hg38 (UCSC)BTC  -     chr4:74744760-74794686 -  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTC  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblBTC - 4q13.3 [CytoView hg19]  BTC - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIBTC [Mapview hg19]  BTC [Mapview hg38]
OMIM600345   
Gene and transcription
Genbank (Entrez)AB109441 BC011618 BI552049 BI758136 BX114471
RefSeq transcript (Entrez)NM_001316963 NM_001729
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BTC
Cluster EST : UnigeneHs.710156 [ NCBI ]
CGAP (NCI)Hs.710156
Alternative Splicing GalleryENSG00000174808
Gene ExpressionBTC [ NCBI-GEO ]   BTC [ EBI - ARRAY_EXPRESS ]   BTC [ SEEK ]   BTC [ MEM ]
Gene Expression Viewer (FireBrowse)BTC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)685
GTEX Portal (Tissue expression)BTC
Human Protein AtlasENSG00000174808-BTC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35070   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35070  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35070
Splice isoforms : SwissVarP35070
PhosPhoSitePlusP35070
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)   
Domains : Interpro (EBI)EGF-like_CS    EGF-like_dom    EGF_rcpt_ligand   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BTC
DMDM Disease mutations685
Blocks (Seattle)BTC
PDB (SRS)1IOX    1IP0   
PDB (PDBSum)1IOX    1IP0   
PDB (IMB)1IOX    1IP0   
PDB (RSDB)1IOX    1IP0   
Structural Biology KnowledgeBase1IOX    1IP0   
SCOP (Structural Classification of Proteins)1IOX    1IP0   
CATH (Classification of proteins structures)1IOX    1IP0   
SuperfamilyP35070
Human Protein Atlas [tissue]ENSG00000174808-BTC [tissue]
Peptide AtlasP35070
HPRD02643
IPIIPI00015755   IPI00966131   
Protein Interaction databases
DIP (DOE-UCLA)P35070
IntAct (EBI)P35070
FunCoupENSG00000174808
BioGRIDBTC
STRING (EMBL)BTC
ZODIACBTC
Ontologies - Pathways
QuickGOP35070
Ontology : AmiGOMAPK cascade  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  epidermal growth factor receptor binding  protein binding  extracellular region  extracellular space  intracellular  plasma membrane  epidermal growth factor receptor signaling pathway  growth factor activity  positive regulation of cell proliferation  regulation of receptor activity  integral component of membrane  peptidyl-tyrosine phosphorylation  positive regulation of urine volume  ERBB2 signaling pathway  negative regulation of apoptotic process  positive regulation of cell differentiation  positive regulation of mitotic nuclear division  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  positive regulation of fibroblast proliferation  positive regulation of cell division  positive regulation of protein kinase B signaling  negative regulation of ERBB signaling pathway  regulation of cell motility  
Ontology : EGO-EBIMAPK cascade  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  epidermal growth factor receptor binding  protein binding  extracellular region  extracellular space  intracellular  plasma membrane  epidermal growth factor receptor signaling pathway  growth factor activity  positive regulation of cell proliferation  regulation of receptor activity  integral component of membrane  peptidyl-tyrosine phosphorylation  positive regulation of urine volume  ERBB2 signaling pathway  negative regulation of apoptotic process  positive regulation of cell differentiation  positive regulation of mitotic nuclear division  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  positive regulation of fibroblast proliferation  positive regulation of cell division  positive regulation of protein kinase B signaling  negative regulation of ERBB signaling pathway  regulation of cell motility  
NDEx NetworkBTC
Atlas of Cancer Signalling NetworkBTC
Wikipedia pathwaysBTC
Orthology - Evolution
OrthoDB685
GeneTree (enSembl)ENSG00000174808
Phylogenetic Trees/Animal Genes : TreeFamBTC
HOVERGENP35070
HOGENOMP35070
Homologs : HomoloGeneBTC
Homology/Alignments : Family Browser (UCSC)BTC
Gene fusions - Rearrangements
Fusion : QuiverBTC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTC
dbVarBTC
ClinVarBTC
1000_GenomesBTC 
Exome Variant ServerBTC
ExAC (Exome Aggregation Consortium)ENSG00000174808
GNOMAD BrowserENSG00000174808
Genetic variants : HAPMAP685
Genomic Variants (DGV)BTC [DGVbeta]
DECIPHERBTC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTC 
Mutations
ICGC Data PortalBTC 
TCGA Data PortalBTC 
Broad Tumor PortalBTC
OASIS PortalBTC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBTC
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 BTC
DgiDB (Drug Gene Interaction Database)BTC
DoCM (Curated mutations)BTC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTC (select a term)
intoGenBTC
Cancer3DBTC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600345   
Orphanet
DisGeNETBTC
MedgenBTC
Genetic Testing Registry BTC
NextProtP35070 [Medical]
TSGene685
GENETestsBTC
Target ValidationBTC
Huge Navigator BTC [HugePedia]
snp3D : Map Gene to Disease685
BioCentury BCIQBTC
ClinGenBTC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD685
Chemical/Pharm GKB GenePA25442
Clinical trialBTC
Miscellaneous
canSAR (ICR)BTC (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTC
EVEXBTC
GoPubMedBTC
iHOPBTC
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 : Wed Feb 28 13:03:29 CET 2018
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