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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 61500556 and ends at 61689849 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)
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]
Ensembl hg38 (Hinxton)ENSG00000198363 [Gene_View]  chr8:61500556-61689849 [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 hg38 (UCSC)ASPH  -     chr8:61500556-61689849 -  8q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASPH  -     8q12.3   [Description]    (hg19-Feb_2009)
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)###############################################################################################################################################################################################################################################################
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)444
GTEX Portal (Tissue expression)ASPH
Human Protein AtlasENSG00000198363-ASPH [pathology]   [cell]   [tissue]
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)   
Domain families : Pfam (NCBI)pfam05279    pfam05118   
Domain families : Smart (EMBL)TPR (SM00028)  
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 Atlas [tissue]ENSG00000198363-ASPH [tissue]
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  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  integral component of membrane  sarcoplasmic reticulum  regulation of protein stability  cortical endoplasmic reticulum  sarcoplasmic reticulum membrane  ion transmembrane transport  limb morphogenesis  peptidyl-aspartic acid hydroxylation  positive regulation of proteolysis  oxidation-reduction process  palate development  face morphogenesis  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  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  integral component of membrane  sarcoplasmic reticulum  regulation of protein stability  cortical endoplasmic reticulum  sarcoplasmic reticulum membrane  ion transmembrane transport  limb morphogenesis  peptidyl-aspartic acid hydroxylation  positive regulation of proteolysis  oxidation-reduction process  palate development  face morphogenesis  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: TCGA_MDACCASPH 8q12.3 RP1 8q12.1 PRAD
Fusion: TCGA_MDACCASPH 8q12.3 RSF1 11q14.1 BRCA
Fusion: TCGA_MDACCCHD7 8q12.1 ASPH 8q12.3 BRCA
Fusion: TCGA_MDACCESR1 6q25.1 ASPH 8q12.3 BRCA
Tumor Fusion PortalASPH
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)ENSG00000198363
GNOMAD BrowserENSG00000198363
Genetic variants : HAPMAP444
Genomic Variants (DGV)ASPH [DGVbeta]
DECIPHERASPH [patients]   [syndromes]   [variants]   [genes]  
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   
DisGeNETASPH
MedgenASPH
Genetic Testing Registry ASPH
NextProtQ12797 [Medical]
TSGene444
GENETestsASPH
Target ValidationASPH
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
PubMed57 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

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indexed on : Tue Nov 21 14:03:59 CET 2017

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