Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BCAT1 (branched chain amino acid transaminase 1)

Identity

Alias (NCBI)BCATC
BCT1
ECA39
MECA39
PNAS121
PP18
HGNC (Hugo) BCAT1
HGNC Previous nameBCT1
HGNC Previous namebranched chain aminotransferase 1, cytosolic
LocusID (NCBI) 586
Atlas_Id 45917
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 24810024 and ends at 24949101 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)
BCAT1 (12p12.1) / BCAT1 (12p12.1)BCAT1 (12p12.1) / DNAJC18 (5q31.2)BCAT1 (12p12.1) / ITPR2 (12p12.1)
BCAT1 (12p12.1) / MDGA2 (14q21.3)BCAT1 (12p12.1) / PRB3 (12p13.2)BCAT1 (12p12.1) / RECQL (12p12.1)
BCAT1 (12p12.1) / SLC9A1 (1p36.11)BCAT1 (12p12.1) / TSPAN11 (12p11.21)BCAT1 12p12.1 / ITPR2 12p12.1
BCAT1 12p12.1 / PRB3 12p13.2BCAT1 12p12.1 / RECQL 12p12.1

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) [ 3 ]
  t(12;12)(p11;p12) BCAT1/ITPR2
BCAT1/RECQL (12p12)
t(12;12)(p12;p13) BCAT1/PRB3

External links

Nomenclature
HGNC (Hugo)BCAT1   976
Cards
Entrez_Gene (NCBI)BCAT1    branched chain amino acid transaminase 1
AliasesBCATC; BCT1; ECA39; MECA39; 
PNAS121; PP18
GeneCards (Weizmann)BCAT1
Ensembl hg19 (Hinxton)ENSG00000060982 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000060982 [Gene_View]  ENSG00000060982 [Sequence]  chr12:24810024-24949101 [Contig_View]  BCAT1 [Vega]
ICGC DataPortalENSG00000060982
TCGA cBioPortalBCAT1
AceView (NCBI)BCAT1
Genatlas (Paris)BCAT1
SOURCE (Princeton)BCAT1
Genetics Home Reference (NIH)BCAT1
Genomic and cartography
GoldenPath hg38 (UCSC)BCAT1  -     chr12:24810024-24949101 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCAT1  -     12p12.1   [Description]    (hg19-Feb_2009)
GoldenPathBCAT1 - 12p12.1 [CytoView hg19]  BCAT1 - 12p12.1 [CytoView hg38]
ImmunoBaseENSG00000060982
genome Data Viewer NCBIBCAT1 [Mapview hg19]  
OMIM113520   
Gene and transcription
Genbank (Entrez)AA376058 AF277179 AK024923 AK025615 AK056255
RefSeq transcript (Entrez)NM_001178091 NM_001178092 NM_001178093 NM_001178094 NM_005504
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCAT1
Alternative Splicing GalleryENSG00000060982
Gene ExpressionBCAT1 [ NCBI-GEO ]   BCAT1 [ EBI - ARRAY_EXPRESS ]   BCAT1 [ SEEK ]   BCAT1 [ MEM ]
Gene Expression Viewer (FireBrowse)BCAT1 [ Firebrowse - Broad ]
GenevisibleExpression of BCAT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)586
GTEX Portal (Tissue expression)BCAT1
Human Protein AtlasENSG00000060982-BCAT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54687   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54687  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54687
Splice isoforms : SwissVarP54687
Catalytic activity : Enzyme2.6.1.42 [ Enzyme-Expasy ]   2.6.1.422.6.1.42 [ IntEnz-EBI ]   2.6.1.42 [ BRENDA ]   2.6.1.42 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP54687
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_4 (PS00770)   
Domains : Interpro (EBI)Aminotrans_IV    Aminotrans_IV_CS    Aminotransferase-like    B_amino_transII    BCAT_family   
Domain families : Pfam (Sanger)Aminotran_4 (PF01063)   
Domain families : Pfam (NCBI)pfam01063   
Conserved Domain (NCBI)BCAT1
Blocks (Seattle)BCAT1
PDB (RSDB)2ABJ    2COG    2COI    2COJ   
PDB Europe2ABJ    2COG    2COI    2COJ   
PDB (PDBSum)2ABJ    2COG    2COI    2COJ   
PDB (IMB)2ABJ    2COG    2COI    2COJ   
Structural Biology KnowledgeBase2ABJ    2COG    2COI    2COJ   
SCOP (Structural Classification of Proteins)2ABJ    2COG    2COI    2COJ   
CATH (Classification of proteins structures)2ABJ    2COG    2COI    2COJ   
SuperfamilyP54687
Human Protein Atlas [tissue]ENSG00000060982-BCAT1 [tissue]
Peptide AtlasP54687
HPRD00216
IPIIPI00382412   IPI00983406   IPI00940330   IPI00976652   IPI00798272   IPI01015138   
Protein Interaction databases
DIP (DOE-UCLA)P54687
IntAct (EBI)P54687
BioGRIDBCAT1
STRING (EMBL)BCAT1
ZODIACBCAT1
Ontologies - Pathways
QuickGOP54687
Ontology : AmiGOG1/S transition of mitotic cell cycle  branched-chain-amino-acid transaminase activity  mitochondrion  cytosol  branched-chain amino acid biosynthetic process  branched-chain amino acid catabolic process  leucine biosynthetic process  valine biosynthetic process  identical protein binding  L-leucine transaminase activity  L-valine transaminase activity  L-isoleucine transaminase activity  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  branched-chain-amino-acid transaminase activity  mitochondrion  cytosol  branched-chain amino acid biosynthetic process  branched-chain amino acid catabolic process  leucine biosynthetic process  valine biosynthetic process  identical protein binding  L-leucine transaminase activity  L-valine transaminase activity  L-isoleucine transaminase activity  
Pathways : KEGGValine, leucine and isoleucine degradation    Valine, leucine and isoleucine biosynthesis    Pantothenate and CoA biosynthesis   
NDEx NetworkBCAT1
Atlas of Cancer Signalling NetworkBCAT1
Wikipedia pathwaysBCAT1
Orthology - Evolution
OrthoDB586
GeneTree (enSembl)ENSG00000060982
Phylogenetic Trees/Animal Genes : TreeFamBCAT1
HOGENOMP54687
Homologs : HomoloGeneBCAT1
Homology/Alignments : Family Browser (UCSC)BCAT1
Gene fusions - Rearrangements
Fusion : MitelmanBCAT1/ITPR2 [12p12.1/12p12.1]  
Fusion : MitelmanBCAT1/PRB3 [12p12.1/12p13.2]  
Fusion : MitelmanBCAT1/RECQL [12p12.1/12p12.1]  
Fusion PortalBCAT1 12p12.1 ITPR2 12p12.1 BRCA
Fusion PortalBCAT1 12p12.1 PRB3 12p13.2 OV
Fusion PortalBCAT1 12p12.1 RECQL 12p12.1 BRCA
Fusion : QuiverBCAT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCAT1 [hg38]
dbVarBCAT1
ClinVarBCAT1
MonarchBCAT1
1000_GenomesBCAT1 
Exome Variant ServerBCAT1
GNOMAD BrowserENSG00000060982
Varsome BrowserBCAT1
Genomic Variants (DGV)BCAT1 [DGVbeta]
DECIPHERBCAT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCAT1 
Mutations
ICGC Data PortalBCAT1 
TCGA Data PortalBCAT1 
Broad Tumor PortalBCAT1
OASIS PortalBCAT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCAT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBCAT1
Mutations and Diseases : HGMDBCAT1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BCAT1
DgiDB (Drug Gene Interaction Database)BCAT1
DoCM (Curated mutations)BCAT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCAT1 (select a term)
intoGenBCAT1
Cancer3DBCAT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM113520   
Orphanet
DisGeNETBCAT1
MedgenBCAT1
Genetic Testing Registry BCAT1
NextProtP54687 [Medical]
GENETestsBCAT1
Target ValidationBCAT1
Huge Navigator BCAT1 [HugePedia]
ClinGenBCAT1
Clinical trials, drugs, therapy
MyCancerGenomeBCAT1
Protein Interactions : CTD
Pharm GKB GenePA25288
PharosP54687
Clinical trialBCAT1
Miscellaneous
canSAR (ICR)BCAT1 (select the gene name)
HarmonizomeBCAT1
DataMed IndexBCAT1
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBCAT1
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 : Fri Jan 1 18:07:03 CET 2021
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