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ASPH (aspartate beta-hydroxylase)

Identity

Alias_symbol (synonym)CASQ2BP1
BAH
JCTN
HAAH
Other aliasAAH
FDLAB
junctin
HGNC (Hugo) ASPH
LocusID (NCBI) 444
Atlas_Id 716
Location 8q12.3  [Link to chromosome band 8q12]
Location_base_pair Starts at 62413115 and ends at 62602408 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALDH3A1 (17p11.2) / ASPH (8q12.3)ASPH (8q12.3) / ASPH (8q12.3)ASPH (8q12.3) / EIF4EBP1 (8p11.23)
ASPH (8q12.3) / NOC3L (10q23.33)ASPH (8q12.3) / PAPPA (9q33.1)ASPH (8q12.3) / RP1 (8q12.1)
ASPH (8q12.3) / RSF1 (11q14.1)ASPH (8q12.3) / VAT1 (17q21.31)ATM (11q22.3) / ASPH (8q12.3)
CDAN1 (15q15.2) / ASPH (8q12.3)CHD7 (8q12.2) / ASPH (8q12.3)CREB3L1 (11p11.2) / ASPH (8q12.3)
ESR1 (6q25.1) / ASPH (8q12.3)FKBP5 (6p21.31) / ASPH (8q12.3)NCAPD3 (11q25) / ASPH (8q12.3)
NCL (2q37.1) / ASPH (8q12.3)RAB2A (8q12.1) / ASPH (8q12.3)RAD17 (5q13.2) / ASPH (8q12.3)
SETD1A (16p11.2) / ASPH (8q12.3)ASPH 8q12.3 / RP1 8q12.1ASPH 8q12.3 / RSF1 11q14.1
CHD7 8q12.1 / ASPH 8q12.3ESR1 6q25.1 / ASPH 8q12.3

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)ASPH   757
Cards
Entrez_Gene (NCBI)ASPH  444  aspartate beta-hydroxylase
AliasesAAH; BAH; CASQ2BP1; FDLAB; 
HAAH; JCTN; junctin
GeneCards (Weizmann)ASPH
Ensembl hg19 (Hinxton)ENSG00000198363 [Gene_View]  chr8:62413115-62602408 [Contig_View]  ASPH [Vega]
Ensembl hg38 (Hinxton)ENSG00000198363 [Gene_View]  chr8:62413115-62602408 [Contig_View]  ASPH [Vega]
ICGC DataPortalENSG00000198363
TCGA cBioPortalASPH
AceView (NCBI)ASPH
Genatlas (Paris)ASPH
WikiGenes444
SOURCE (Princeton)ASPH
Genetics Home Reference (NIH)ASPH
Genomic and cartography
GoldenPath hg19 (UCSC)ASPH  -     chr8:62413115-62602408 -  8q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ASPH  -     8q12.3   [Description]    (hg38-Dec_2013)
EnsemblASPH - 8q12.3 [CytoView hg19]  ASPH - 8q12.3 [CytoView hg38]
Mapping of homologs : NCBIASPH [Mapview hg19]  ASPH [Mapview hg38]
OMIM600582   601552   
Gene and transcription
Genbank (Entrez)AF184241 AF224468 AF224469 AF289489 AF306765
RefSeq transcript (Entrez)NM_001164750 NM_001164751 NM_001164752 NM_001164753 NM_001164754 NM_001164755 NM_001164756 NM_004318 NM_020164 NM_032466 NM_032467 NM_032468
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_013210 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)ASPH
Cluster EST : UnigeneHs.332422 [ NCBI ]
CGAP (NCI)Hs.332422
Alternative Splicing GalleryENSG00000198363
Gene ExpressionASPH [ NCBI-GEO ]   ASPH [ EBI - ARRAY_EXPRESS ]   ASPH [ SEEK ]   ASPH [ MEM ]
Gene Expression Viewer (FireBrowse)ASPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)444
GTEX Portal (Tissue expression)ASPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12797   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12797  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12797
Splice isoforms : SwissVarQ12797
PhosPhoSitePlusQ12797
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)Asp-B-hydro/Triadin_dom    Asp/Arg/Pro-Hydrxlase    IPNS-like    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)Asp-B-Hydro_N (PF05279)    Asp_Arg_Hydrox (PF05118)    TPR_6 (PF13174)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam05279    pfam05118    pfam13174    pfam13181   
Conserved Domain (NCBI)ASPH
DMDM Disease mutations444
Blocks (Seattle)ASPH
PDB (SRS)5APA   
PDB (PDBSum)5APA   
PDB (IMB)5APA   
PDB (RSDB)5APA   
Structural Biology KnowledgeBase5APA   
SCOP (Structural Classification of Proteins)5APA   
CATH (Classification of proteins structures)5APA   
SuperfamilyQ12797
Human Protein AtlasENSG00000198363
Peptide AtlasQ12797
HPRD08996
IPIIPI00294834   IPI00032449   IPI00024572   IPI00032450   IPI00909538   IPI00746217   IPI00944640   IPI00921959   IPI00980037   IPI00396582   IPI00944646   IPI00910043   IPI00979367   IPI00433478   IPI00974367   IPI00974095   IPI00982358   IPI00976292   IPI00032453   
Protein Interaction databases
DIP (DOE-UCLA)Q12797
IntAct (EBI)Q12797
FunCoupENSG00000198363
BioGRIDASPH
STRING (EMBL)ASPH
ZODIACASPH
Ontologies - Pathways
QuickGOQ12797
Ontology : AmiGOpeptide-aspartate beta-dioxygenase activity  structural molecule activity  calcium ion binding  calcium ion binding  detection of calcium ion  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  muscle contraction  pattern specification process  negative regulation of cell proliferation  structural constituent of muscle  electron carrier activity  positive regulation of calcium ion transport into cytosol  regulation of cell communication by electrical coupling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  junctional sarcoplasmic reticulum membrane  integral component of membrane  integral component of endoplasmic reticulum membrane  regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  regulation of protein stability  activation of store-operated calcium channel activity  cortical endoplasmic reticulum  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  response to ATP  ion transmembrane transport  calcium channel complex  limb morphogenesis  peptidyl-aspartic acid hydroxylation  ion channel binding  positive regulation of proteolysis  positive regulation of transcription, DNA-templated  oxidation-reduction process  palate development  regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  face morphogenesis  calcium ion transmembrane transport  cellular response to calcium ion  positive regulation of intracellular protein transport  activation of cysteine-type endopeptidase activity  regulation of protein depolymerization  regulation of cardiac conduction  
Ontology : EGO-EBIpeptide-aspartate beta-dioxygenase activity  structural molecule activity  calcium ion binding  calcium ion binding  detection of calcium ion  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  muscle contraction  pattern specification process  negative regulation of cell proliferation  structural constituent of muscle  electron carrier activity  positive regulation of calcium ion transport into cytosol  regulation of cell communication by electrical coupling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  junctional sarcoplasmic reticulum membrane  integral component of membrane  integral component of endoplasmic reticulum membrane  regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  regulation of protein stability  activation of store-operated calcium channel activity  cortical endoplasmic reticulum  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  response to ATP  ion transmembrane transport  calcium channel complex  limb morphogenesis  peptidyl-aspartic acid hydroxylation  ion channel binding  positive regulation of proteolysis  positive regulation of transcription, DNA-templated  oxidation-reduction process  palate development  regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of ryanodine-sensitive calcium-release channel activity  face morphogenesis  calcium ion transmembrane transport  cellular response to calcium ion  positive regulation of intracellular protein transport  activation of cysteine-type endopeptidase activity  regulation of protein depolymerization  regulation of cardiac conduction  
Pathways : BIOCARTAHypoxia-Inducible Factor in the Cardiovascular System [Genes]   
NDEx NetworkASPH
Atlas of Cancer Signalling NetworkASPH
Wikipedia pathwaysASPH
Orthology - Evolution
OrthoDB444
GeneTree (enSembl)ENSG00000198363
Phylogenetic Trees/Animal Genes : TreeFamASPH
HOVERGENQ12797
HOGENOMQ12797
Homologs : HomoloGeneASPH
Homology/Alignments : Family Browser (UCSC)ASPH
Gene fusions - Rearrangements
Fusion : MitelmanASPH/RP1 [8q12.3/8q12.1]  
Fusion : MitelmanASPH/RSF1 [8q12.3/11q14.1]  [t(8;11)(q12;q14)]  
Fusion : MitelmanCHD7/ASPH [8q12.1/8q12.3]  [t(8;8)(q12;q12)]  
Fusion : MitelmanESR1/ASPH [6q25.1/8q12.3]  [t(6;8)(q25;q12)]  
Fusion: TCGAASPH 8q12.3 RP1 8q12.1 PRAD
Fusion: TCGAASPH 8q12.3 RSF1 11q14.1 BRCA
Fusion: TCGACHD7 8q12.1 ASPH 8q12.3 BRCA
Fusion: TCGAESR1 6q25.1 ASPH 8q12.3 BRCA
Fusion Cancer (Beijing)CDAN1 [15q15.2]  -  ASPH [8q12.3]  [FUSC001484]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASPH
dbVarASPH
ClinVarASPH
1000_GenomesASPH 
Exome Variant ServerASPH
ExAC (Exome Aggregation Consortium)ASPH (select the gene name)
Genetic variants : HAPMAP444
Genomic Variants (DGV)ASPH [DGVbeta]
DECIPHER (Syndromes)8:62413115-62602408  ENSG00000198363
CONAN: Copy Number AnalysisASPH 
Mutations
ICGC Data PortalASPH 
TCGA Data PortalASPH 
Broad Tumor PortalASPH
OASIS PortalASPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASPH
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 ASPH
DgiDB (Drug Gene Interaction Database)ASPH
DoCM (Curated mutations)ASPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASPH (select a term)
intoGenASPH
Cancer3DASPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600582    601552   
Orphanet23038   
MedgenASPH
Genetic Testing Registry ASPH
NextProtQ12797 [Medical]
TSGene444
GENETestsASPH
Huge Navigator ASPH [HugePedia]
snp3D : Map Gene to Disease444
BioCentury BCIQASPH
ClinGenASPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD444
Chemical/Pharm GKB GenePA25056
Clinical trialASPH
Miscellaneous
canSAR (ICR)ASPH (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASPH
EVEXASPH
GoPubMedASPH
iHOPASPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:56:45 CET 2017

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