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ASPHD1 (aspartate beta-hydroxylase domain containing 1)

Identity

Other alias-
HGNC (Hugo) ASPHD1
LocusID (NCBI) 253982
Atlas_Id 60580
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 29912147 and ends at 29917377 bp from pter ( according to hg19-Feb_2009)

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)ASPHD1   27380
Cards
Entrez_Gene (NCBI)ASPHD1  253982  aspartate beta-hydroxylase domain containing 1
Aliases
GeneCards (Weizmann)ASPHD1
Ensembl hg19 (Hinxton)ENSG00000174939 [Gene_View]  chr16:29912147-29917377 [Contig_View]  ASPHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174939 [Gene_View]  chr16:29912147-29917377 [Contig_View]  ASPHD1 [Vega]
ICGC DataPortalENSG00000174939
TCGA cBioPortalASPHD1
AceView (NCBI)ASPHD1
Genatlas (Paris)ASPHD1
WikiGenes253982
SOURCE (Princeton)ASPHD1
Genetics Home Reference (NIH)ASPHD1
Genomic and cartography
GoldenPath hg19 (UCSC)ASPHD1  -     chr16:29912147-29917377 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ASPHD1  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblASPHD1 - 16p11.2 [CytoView hg19]  ASPHD1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIASPHD1 [Mapview hg19]  ASPHD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF070642 BC009033 BC029136 BC034275 BC040933
RefSeq transcript (Entrez)NM_181718 NM_198907
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)ASPHD1
Cluster EST : UnigeneHs.655761 [ NCBI ]
CGAP (NCI)Hs.655761
Alternative Splicing GalleryENSG00000174939
Gene ExpressionASPHD1 [ NCBI-GEO ]   ASPHD1 [ EBI - ARRAY_EXPRESS ]   ASPHD1 [ SEEK ]   ASPHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)ASPHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)253982
GTEX Portal (Tissue expression)ASPHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5U4P2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5U4P2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5U4P2
Splice isoforms : SwissVarQ5U4P2
PhosPhoSitePlusQ5U4P2
Domains : Interpro (EBI)Asp_Arg_Pro-Hydrxlase    IPNS-like   
Domain families : Pfam (Sanger)Asp_Arg_Hydrox (PF05118)   
Domain families : Pfam (NCBI)pfam05118   
Conserved Domain (NCBI)ASPHD1
DMDM Disease mutations253982
Blocks (Seattle)ASPHD1
SuperfamilyQ5U4P2
Human Protein AtlasENSG00000174939
Peptide AtlasQ5U4P2
HPRD14139
IPIIPI00305626   
Protein Interaction databases
DIP (DOE-UCLA)Q5U4P2
IntAct (EBI)Q5U4P2
FunCoupENSG00000174939
BioGRIDASPHD1
STRING (EMBL)ASPHD1
ZODIACASPHD1
Ontologies - Pathways
QuickGOQ5U4P2
Ontology : AmiGOintegral component of membrane  peptidyl-amino acid modification  dioxygenase activity  oxidation-reduction process  
Ontology : EGO-EBIintegral component of membrane  peptidyl-amino acid modification  dioxygenase activity  oxidation-reduction process  
NDEx NetworkASPHD1
Atlas of Cancer Signalling NetworkASPHD1
Wikipedia pathwaysASPHD1
Orthology - Evolution
OrthoDB253982
GeneTree (enSembl)ENSG00000174939
Phylogenetic Trees/Animal Genes : TreeFamASPHD1
HOVERGENQ5U4P2
HOGENOMQ5U4P2
Homologs : HomoloGeneASPHD1
Homology/Alignments : Family Browser (UCSC)ASPHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASPHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASPHD1
dbVarASPHD1
ClinVarASPHD1
1000_GenomesASPHD1 
Exome Variant ServerASPHD1
ExAC (Exome Aggregation Consortium)ASPHD1 (select the gene name)
Genetic variants : HAPMAP253982
Genomic Variants (DGV)ASPHD1 [DGVbeta]
DECIPHER (Syndromes)16:29912147-29917377  ENSG00000174939
CONAN: Copy Number AnalysisASPHD1 
Mutations
ICGC Data PortalASPHD1 
TCGA Data PortalASPHD1 
Broad Tumor PortalASPHD1
OASIS PortalASPHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASPHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASPHD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ASPHD1
DgiDB (Drug Gene Interaction Database)ASPHD1
DoCM (Curated mutations)ASPHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASPHD1 (select a term)
intoGenASPHD1
Cancer3DASPHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenASPHD1
Genetic Testing Registry ASPHD1
NextProtQ5U4P2 [Medical]
TSGene253982
GENETestsASPHD1
Huge Navigator ASPHD1 [HugePedia]
snp3D : Map Gene to Disease253982
BioCentury BCIQASPHD1
ClinGenASPHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD253982
Chemical/Pharm GKB GenePA143485313
Clinical trialASPHD1
Miscellaneous
canSAR (ICR)ASPHD1 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASPHD1
EVEXASPHD1
GoPubMedASPHD1
iHOPASPHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:14 CET 2017

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