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ABHD11 (abhydrolase domain containing 11)

Identity

Alias_namesWBSCR21
Williams Beuren syndrome chromosome region 21
Alias_symbol (synonym)PP1226
Other alias
HGNC (Hugo) ABHD11
LocusID (NCBI) 83451
Atlas_Id 52553
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73736095 and ends at 73738867 bp from pter ( according to hg38-Dec_2013)

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)ABHD11   16407
Cards
Entrez_Gene (NCBI)ABHD11  83451  abhydrolase domain containing 11
AliasesPP1226; WBSCR21
GeneCards (Weizmann)ABHD11
Ensembl hg19 (Hinxton)ENSG00000106077 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106077 [Gene_View]  chr7:73736095-73738867 [Contig_View]  ABHD11 [Vega]
ICGC DataPortalENSG00000106077
TCGA cBioPortalABHD11
AceView (NCBI)ABHD11
Genatlas (Paris)ABHD11
WikiGenes83451
SOURCE (Princeton)ABHD11
Genetics Home Reference (NIH)ABHD11
Genomic and cartography
GoldenPath hg38 (UCSC)ABHD11  -     chr7:73736095-73738867 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABHD11  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblABHD11 - 7q11.23 [CytoView hg19]  ABHD11 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIABHD11 [Mapview hg19]  ABHD11 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF217971 AF412030 AF412031 AF412032 AI401767
RefSeq transcript (Entrez)NM_001145363 NM_001145364 NM_001301058 NM_001321382 NM_001321383 NM_148912 NM_148913 NM_148914 NM_148916
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABHD11
Cluster EST : UnigeneHs.647045 [ NCBI ]
CGAP (NCI)Hs.647045
Alternative Splicing GalleryENSG00000106077
Gene ExpressionABHD11 [ NCBI-GEO ]   ABHD11 [ EBI - ARRAY_EXPRESS ]   ABHD11 [ SEEK ]   ABHD11 [ MEM ]
Gene Expression Viewer (FireBrowse)ABHD11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83451
GTEX Portal (Tissue expression)ABHD11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFV4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFV4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFV4
Splice isoforms : SwissVarQ8NFV4
Catalytic activity : Enzyme3.-.-.- [ Enzyme-Expasy ]   3.-.-.-3.-.-.- [ IntEnz-EBI ]   3.-.-.- [ BRENDA ]   3.-.-.- [ KEGG ]   
PhosPhoSitePlusQ8NFV4
Domains : Interpro (EBI)AB_hydrolase    AB_hydrolase_1   
Domain families : Pfam (Sanger)Abhydrolase_6 (PF12697)   
Domain families : Pfam (NCBI)pfam12697   
Conserved Domain (NCBI)ABHD11
DMDM Disease mutations83451
Blocks (Seattle)ABHD11
SuperfamilyQ8NFV4
Human Protein AtlasENSG00000106077
Peptide AtlasQ8NFV4
HPRD15658
IPIIPI00171692   IPI00922400   IPI01015596   IPI00171152   IPI00167072   IPI00925250   IPI00922889   IPI00170896   IPI00927072   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFV4
IntAct (EBI)Q8NFV4
FunCoupENSG00000106077
BioGRIDABHD11
STRING (EMBL)ABHD11
ZODIACABHD11
Ontologies - Pathways
QuickGOQ8NFV4
Ontology : AmiGOmolecular_function  cellular_component  mitochondrion  biological_process  hydrolase activity  
Ontology : EGO-EBImolecular_function  cellular_component  mitochondrion  biological_process  hydrolase activity  
NDEx NetworkABHD11
Atlas of Cancer Signalling NetworkABHD11
Wikipedia pathwaysABHD11
Orthology - Evolution
OrthoDB83451
GeneTree (enSembl)ENSG00000106077
Phylogenetic Trees/Animal Genes : TreeFamABHD11
HOVERGENQ8NFV4
HOGENOMQ8NFV4
Homologs : HomoloGeneABHD11
Homology/Alignments : Family Browser (UCSC)ABHD11
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABHD11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABHD11
dbVarABHD11
ClinVarABHD11
1000_GenomesABHD11 
Exome Variant ServerABHD11
ExAC (Exome Aggregation Consortium)ABHD11 (select the gene name)
Genetic variants : HAPMAP83451
Genomic Variants (DGV)ABHD11 [DGVbeta]
DECIPHERABHD11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABHD11 
Mutations
ICGC Data PortalABHD11 
TCGA Data PortalABHD11 
Broad Tumor PortalABHD11
OASIS PortalABHD11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABHD11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABHD11
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 ABHD11
DgiDB (Drug Gene Interaction Database)ABHD11
DoCM (Curated mutations)ABHD11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABHD11 (select a term)
intoGenABHD11
Cancer3DABHD11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenABHD11
Genetic Testing Registry ABHD11
NextProtQ8NFV4 [Medical]
TSGene83451
GENETestsABHD11
Target ValidationABHD11
Huge Navigator ABHD11 [HugePedia]
snp3D : Map Gene to Disease83451
BioCentury BCIQABHD11
ClinGenABHD11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83451
Chemical/Pharm GKB GenePA38134
Clinical trialABHD11
Miscellaneous
canSAR (ICR)ABHD11 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABHD11
EVEXABHD11
GoPubMedABHD11
iHOPABHD11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:45:53 CEST 2017

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