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ABHD12 (abhydrolase domain containing 12)

Identity

Alias_namesC20orf22
chromosome 20 open reading frame 22
Alias_symbol (synonym)DKFZP434P106
dJ965G21.2
BEM46L2
ABHD12A
Other aliasPHARC
HGNC (Hugo) ABHD12
LocusID (NCBI) 26090
Atlas_Id 60049
Location 20p11.21  [Link to chromosome band 20p11]
Location_base_pair Starts at 25300198 and ends at 25390982 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)
ABHD12 (20p11.21) / MEG3 (14q32.2)ABHD12 (20p11.21) / METTL25 (12q21.31)ABHD12 (20p11.21) / PYGB (20p11.21)
ABHD12 (20p11.21) / RAD21 (8q24.11)CHD6 (20q12) / ABHD12 (20p11.21)ENSA (1q21.3) / ABHD12 (20p11.21)
NUMA1 (11q13.4) / ABHD12 (20p11.21)CHD6 ABHD12NUMA1 ABHD12

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)ABHD12   15868
Cards
Entrez_Gene (NCBI)ABHD12  26090  abhydrolase domain containing 12
AliasesABHD12A; BEM46L2; C20orf22; PHARC; 
dJ965G21.2
GeneCards (Weizmann)ABHD12
Ensembl hg19 (Hinxton)ENSG00000100997 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100997 [Gene_View]  chr20:25300198-25390982 [Contig_View]  ABHD12 [Vega]
ICGC DataPortalENSG00000100997
TCGA cBioPortalABHD12
AceView (NCBI)ABHD12
Genatlas (Paris)ABHD12
WikiGenes26090
SOURCE (Princeton)ABHD12
Genetics Home Reference (NIH)ABHD12
Genomic and cartography
GoldenPath hg38 (UCSC)ABHD12  -     chr20:25300198-25390982 -  20p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABHD12  -     20p11.21   [Description]    (hg19-Feb_2009)
EnsemblABHD12 - 20p11.21 [CytoView hg19]  ABHD12 - 20p11.21 [CytoView hg38]
Mapping of homologs : NCBIABHD12 [Mapview hg19]  ABHD12 [Mapview hg38]
OMIM612674   613599   
Gene and transcription
Genbank (Entrez)AK075023 AK290815 AK293495 AL117442 BC014049
RefSeq transcript (Entrez)NM_001042472 NM_015600
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABHD12
Cluster EST : UnigeneHs.441550 [ NCBI ]
CGAP (NCI)Hs.441550
Alternative Splicing GalleryENSG00000100997
Gene ExpressionABHD12 [ NCBI-GEO ]   ABHD12 [ EBI - ARRAY_EXPRESS ]   ABHD12 [ SEEK ]   ABHD12 [ MEM ]
Gene Expression Viewer (FireBrowse)ABHD12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26090
GTEX Portal (Tissue expression)ABHD12
Human Protein AtlasENSG00000100997-ABHD12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N2K0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N2K0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N2K0
Splice isoforms : SwissVarQ8N2K0
PhosPhoSitePlusQ8N2K0
Domains : Interpro (EBI)AB_hydrolase    ABHD12    Hydrolase_4   
Domain families : Pfam (Sanger)Hydrolase_4 (PF12146)   
Domain families : Pfam (NCBI)pfam12146   
Conserved Domain (NCBI)ABHD12
DMDM Disease mutations26090
Blocks (Seattle)ABHD12
SuperfamilyQ8N2K0
Human Protein Atlas [tissue]ENSG00000100997-ABHD12 [tissue]
Peptide AtlasQ8N2K0
HPRD07094
IPIIPI00394779   IPI00060569   IPI00930555   IPI00514906   
Protein Interaction databases
DIP (DOE-UCLA)Q8N2K0
IntAct (EBI)Q8N2K0
FunCoupENSG00000100997
BioGRIDABHD12
STRING (EMBL)ABHD12
ZODIACABHD12
Ontologies - Pathways
QuickGOQ8N2K0
Ontology : AmiGOlysophospholipase activity  plasma membrane  phosphatidylserine catabolic process  adult walking behavior  response to auditory stimulus  integral component of membrane  AMPA glutamate receptor complex  acylglycerol catabolic process  glycerophospholipid catabolic process  acylglycerol lipase activity  acylglycerol lipase activity  monoacylglycerol catabolic process  
Ontology : EGO-EBIlysophospholipase activity  plasma membrane  phosphatidylserine catabolic process  adult walking behavior  response to auditory stimulus  integral component of membrane  AMPA glutamate receptor complex  acylglycerol catabolic process  glycerophospholipid catabolic process  acylglycerol lipase activity  acylglycerol lipase activity  monoacylglycerol catabolic process  
NDEx NetworkABHD12
Atlas of Cancer Signalling NetworkABHD12
Wikipedia pathwaysABHD12
Orthology - Evolution
OrthoDB26090
GeneTree (enSembl)ENSG00000100997
Phylogenetic Trees/Animal Genes : TreeFamABHD12
HOVERGENQ8N2K0
HOGENOMQ8N2K0
Homologs : HomoloGeneABHD12
Homology/Alignments : Family Browser (UCSC)ABHD12
Gene fusions - Rearrangements
Fusion: TCGA_MDACCCHD6 ABHD12
Fusion: TCGA_MDACCNUMA1 ABHD12
Tumor Fusion PortalABHD12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABHD12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABHD12
dbVarABHD12
ClinVarABHD12
1000_GenomesABHD12 
Exome Variant ServerABHD12
ExAC (Exome Aggregation Consortium)ENSG00000100997
GNOMAD BrowserENSG00000100997
Genetic variants : HAPMAP26090
Genomic Variants (DGV)ABHD12 [DGVbeta]
DECIPHERABHD12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABHD12 
Mutations
ICGC Data PortalABHD12 
TCGA Data PortalABHD12 
Broad Tumor PortalABHD12
OASIS PortalABHD12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABHD12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABHD12
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)Eye diseases - LOVD
BioMutasearch ABHD12
DgiDB (Drug Gene Interaction Database)ABHD12
DoCM (Curated mutations)ABHD12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABHD12 (select a term)
intoGenABHD12
Cancer3DABHD12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612674    613599   
Orphanet17940   
DisGeNETABHD12
MedgenABHD12
Genetic Testing Registry ABHD12
NextProtQ8N2K0 [Medical]
TSGene26090
GENETestsABHD12
Target ValidationABHD12
Huge Navigator ABHD12 [HugePedia]
snp3D : Map Gene to Disease26090
BioCentury BCIQABHD12
ClinGenABHD12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26090
Chemical/Pharm GKB GenePA25738
Clinical trialABHD12
Miscellaneous
canSAR (ICR)ABHD12 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABHD12
EVEXABHD12
GoPubMedABHD12
iHOPABHD12
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 : Tue Nov 21 13:41:10 CET 2017

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