Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HIBCH (3-hydroxyisobutyryl-CoA hydrolase)

Identity

Alias_names3-hydroxyisobutyryl-Coenzyme A hydrolase
Other aliasHIBYLCOAH
HGNC (Hugo) HIBCH
LocusID (NCBI) 26275
Atlas_Id 64263
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 190204634 and ends at 190320045 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)
HIBCH (2q32.2) / CTNNA2 (2p12)

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(2;2)(p12;q32) HIBCH/CTNNA2

External links

Nomenclature
HGNC (Hugo)HIBCH   4908
Cards
Entrez_Gene (NCBI)HIBCH  26275  3-hydroxyisobutyryl-CoA hydrolase
AliasesHIBYLCOAH
GeneCards (Weizmann)HIBCH
Ensembl hg19 (Hinxton)ENSG00000198130 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198130 [Gene_View]  chr2:190204634-190320045 [Contig_View]  HIBCH [Vega]
ICGC DataPortalENSG00000198130
TCGA cBioPortalHIBCH
AceView (NCBI)HIBCH
Genatlas (Paris)HIBCH
WikiGenes26275
SOURCE (Princeton)HIBCH
Genetics Home Reference (NIH)HIBCH
Genomic and cartography
GoldenPath hg38 (UCSC)HIBCH  -     chr2:190204634-190320045 -  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIBCH  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblHIBCH - 2q32.2 [CytoView hg19]  HIBCH - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIHIBCH [Mapview hg19]  HIBCH [Mapview hg38]
OMIM250620   610690   
Gene and transcription
Genbank (Entrez)AI767349 AK126890 AK222979 AK223023 AK308042
RefSeq transcript (Entrez)NM_014362 NM_198047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIBCH
Cluster EST : UnigeneHs.656685 [ NCBI ]
CGAP (NCI)Hs.656685
Alternative Splicing GalleryENSG00000198130
Gene ExpressionHIBCH [ NCBI-GEO ]   HIBCH [ EBI - ARRAY_EXPRESS ]   HIBCH [ SEEK ]   HIBCH [ MEM ]
Gene Expression Viewer (FireBrowse)HIBCH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26275
GTEX Portal (Tissue expression)HIBCH
Human Protein AtlasENSG00000198130-HIBCH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NVY1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NVY1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NVY1
Splice isoforms : SwissVarQ6NVY1
Catalytic activity : Enzyme3.1.2.4 [ Enzyme-Expasy ]   3.1.2.43.1.2.4 [ IntEnz-EBI ]   3.1.2.4 [ BRENDA ]   3.1.2.4 [ KEGG ]   
PhosPhoSitePlusQ6NVY1
Domains : Interpro (EBI)ClpP/crotonase-like_dom    Crontonase_C    HIBYL-CoA-H   
Domain families : Pfam (Sanger)ECH_2 (PF16113)   
Domain families : Pfam (NCBI)pfam16113   
Conserved Domain (NCBI)HIBCH
DMDM Disease mutations26275
Blocks (Seattle)HIBCH
PDB (SRS)3BPT   
PDB (PDBSum)3BPT   
PDB (IMB)3BPT   
PDB (RSDB)3BPT   
Structural Biology KnowledgeBase3BPT   
SCOP (Structural Classification of Proteins)3BPT   
CATH (Classification of proteins structures)3BPT   
SuperfamilyQ6NVY1
Human Protein Atlas [tissue]ENSG00000198130-HIBCH [tissue]
Peptide AtlasQ6NVY1
HPRD11023
IPIIPI00419802   IPI00377161   IPI00915760   IPI00916207   IPI00916098   IPI00916393   IPI00916849   IPI00915922   IPI00916939   
Protein Interaction databases
DIP (DOE-UCLA)Q6NVY1
IntAct (EBI)Q6NVY1
FunCoupENSG00000198130
BioGRIDHIBCH
STRING (EMBL)HIBCH
ZODIACHIBCH
Ontologies - Pathways
QuickGOQ6NVY1
Ontology : AmiGO3-hydroxyisobutyryl-CoA hydrolase activity  3-hydroxyisobutyryl-CoA hydrolase activity  mitochondrial matrix  valine catabolic process  branched-chain amino acid catabolic process  extracellular exosome  
Ontology : EGO-EBI3-hydroxyisobutyryl-CoA hydrolase activity  3-hydroxyisobutyryl-CoA hydrolase activity  mitochondrial matrix  valine catabolic process  branched-chain amino acid catabolic process  extracellular exosome  
NDEx NetworkHIBCH
Atlas of Cancer Signalling NetworkHIBCH
Wikipedia pathwaysHIBCH
Orthology - Evolution
OrthoDB26275
GeneTree (enSembl)ENSG00000198130
Phylogenetic Trees/Animal Genes : TreeFamHIBCH
HOVERGENQ6NVY1
HOGENOMQ6NVY1
Homologs : HomoloGeneHIBCH
Homology/Alignments : Family Browser (UCSC)HIBCH
Gene fusions - Rearrangements
Fusion : QuiverHIBCH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIBCH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIBCH
dbVarHIBCH
ClinVarHIBCH
1000_GenomesHIBCH 
Exome Variant ServerHIBCH
ExAC (Exome Aggregation Consortium)ENSG00000198130
GNOMAD BrowserENSG00000198130
Genetic variants : HAPMAP26275
Genomic Variants (DGV)HIBCH [DGVbeta]
DECIPHERHIBCH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIBCH 
Mutations
ICGC Data PortalHIBCH 
TCGA Data PortalHIBCH 
Broad Tumor PortalHIBCH
OASIS PortalHIBCH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIBCH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIBCH
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 HIBCH
DgiDB (Drug Gene Interaction Database)HIBCH
DoCM (Curated mutations)HIBCH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIBCH (select a term)
intoGenHIBCH
Cancer3DHIBCH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM250620    610690   
Orphanet11817   
DisGeNETHIBCH
MedgenHIBCH
Genetic Testing Registry HIBCH
NextProtQ6NVY1 [Medical]
TSGene26275
GENETestsHIBCH
Target ValidationHIBCH
Huge Navigator HIBCH [HugePedia]
snp3D : Map Gene to Disease26275
BioCentury BCIQHIBCH
ClinGenHIBCH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26275
Chemical/Pharm GKB GenePA29281
Clinical trialHIBCH
Miscellaneous
canSAR (ICR)HIBCH (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIBCH
EVEXHIBCH
GoPubMedHIBCH
iHOPHIBCH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:21:14 CET 2018
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