Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEPH (hephaestin)

Identity

Alias_symbol (synonym)KIAA0698
CPL
Other alias
HGNC (Hugo) HEPH
LocusID (NCBI) 9843
Atlas_Id 64238
Location Xq12  [Link to chromosome band Xq12]
Location_base_pair Starts at 66164230 and ends at 66267388 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HLA-C (6p21.33) / HEPH (Xq12)

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)HEPH   4866
Cards
Entrez_Gene (NCBI)HEPH  9843  hephaestin
AliasesCPL
GeneCards (Weizmann)HEPH
Ensembl hg19 (Hinxton)ENSG00000089472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089472 [Gene_View]  chrX:66164230-66267388 [Contig_View]  HEPH [Vega]
ICGC DataPortalENSG00000089472
TCGA cBioPortalHEPH
AceView (NCBI)HEPH
Genatlas (Paris)HEPH
WikiGenes9843
SOURCE (Princeton)HEPH
Genetics Home Reference (NIH)HEPH
Genomic and cartography
GoldenPath hg38 (UCSC)HEPH  -     chrX:66164230-66267388 +  Xq12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEPH  -     Xq12   [Description]    (hg19-Feb_2009)
EnsemblHEPH - Xq12 [CytoView hg19]  HEPH - Xq12 [CytoView hg38]
Mapping of homologs : NCBIHEPH [Mapview hg19]  HEPH [Mapview hg38]
OMIM300167   
Gene and transcription
Genbank (Entrez)AB014598 AF075034 AF148860 AJ296162 AK022472
RefSeq transcript (Entrez)NM_001130860 NM_001282141 NM_014799 NM_138737
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEPH
Cluster EST : UnigeneHs.31720 [ NCBI ]
CGAP (NCI)Hs.31720
Alternative Splicing GalleryENSG00000089472
Gene ExpressionHEPH [ NCBI-GEO ]   HEPH [ EBI - ARRAY_EXPRESS ]   HEPH [ SEEK ]   HEPH [ MEM ]
Gene Expression Viewer (FireBrowse)HEPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9843
GTEX Portal (Tissue expression)HEPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQS7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQS7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQS7
Splice isoforms : SwissVarQ9BQS7
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusQ9BQS7
Domaine pattern : Prosite (Expaxy)MULTICOPPER_OXIDASE1 (PS00079)    MULTICOPPER_OXIDASE2 (PS00080)   
Domains : Interpro (EBI)Cu-oxidase_2    Cu-oxidase_3    Cu_oxidase_CS    Cu_oxidase_Cu_BS    Cupredoxin    HEPH   
Domain families : Pfam (Sanger)Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)   
Domain families : Pfam (NCBI)pfam07731    pfam07732   
Conserved Domain (NCBI)HEPH
DMDM Disease mutations9843
Blocks (Seattle)HEPH
SuperfamilyQ9BQS7
Human Protein AtlasENSG00000089472
Peptide AtlasQ9BQS7
HPRD02159
IPIIPI00107855   IPI00982379   IPI00432025   IPI00641637   IPI00941269   IPI00925210   IPI00924987   IPI00927426   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQS7
IntAct (EBI)Q9BQS7
FunCoupENSG00000089472
BioGRIDHEPH
STRING (EMBL)HEPH
ZODIACHEPH
Ontologies - Pathways
QuickGOQ9BQS7
Ontology : AmiGOferroxidase activity  copper ion binding  intracellular  plasma membrane  copper ion transport  iron ion transport  cellular iron ion homeostasis  ferrous iron binding  integral component of membrane  basolateral plasma membrane  perinuclear region of cytoplasm  oxidation-reduction process  
Ontology : EGO-EBIferroxidase activity  copper ion binding  intracellular  plasma membrane  copper ion transport  iron ion transport  cellular iron ion homeostasis  ferrous iron binding  integral component of membrane  basolateral plasma membrane  perinuclear region of cytoplasm  oxidation-reduction process  
Pathways : KEGGMineral absorption   
NDEx NetworkHEPH
Atlas of Cancer Signalling NetworkHEPH
Wikipedia pathwaysHEPH
Orthology - Evolution
OrthoDB9843
GeneTree (enSembl)ENSG00000089472
Phylogenetic Trees/Animal Genes : TreeFamHEPH
HOVERGENQ9BQS7
HOGENOMQ9BQS7
Homologs : HomoloGeneHEPH
Homology/Alignments : Family Browser (UCSC)HEPH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEPH
dbVarHEPH
ClinVarHEPH
1000_GenomesHEPH 
Exome Variant ServerHEPH
ExAC (Exome Aggregation Consortium)HEPH (select the gene name)
Genetic variants : HAPMAP9843
Genomic Variants (DGV)HEPH [DGVbeta]
DECIPHERHEPH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEPH 
Mutations
ICGC Data PortalHEPH 
TCGA Data PortalHEPH 
Broad Tumor PortalHEPH
OASIS PortalHEPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEPH
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)X-chromosome gene database
BioMutasearch HEPH
DgiDB (Drug Gene Interaction Database)HEPH
DoCM (Curated mutations)HEPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEPH (select a term)
intoGenHEPH
Cancer3DHEPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300167   
Orphanet
MedgenHEPH
Genetic Testing Registry HEPH
NextProtQ9BQS7 [Medical]
TSGene9843
GENETestsHEPH
Huge Navigator HEPH [HugePedia]
snp3D : Map Gene to Disease9843
BioCentury BCIQHEPH
ClinGenHEPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9843
Chemical/Pharm GKB GenePA29241
Clinical trialHEPH
Miscellaneous
canSAR (ICR)HEPH (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEPH
EVEXHEPH
GoPubMedHEPH
iHOPHEPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:15:25 CEST 2017

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