Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEPHL1 (hephaestin-like 1)

Identity

Alias_symbol (synonym)DKFZp686F22190
Other alias-
HGNC (Hugo) HEPHL1
LocusID (NCBI) 341208
Atlas_Id 64239
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 93754378 and ends at 93847374 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HEPHL1 (11q21) / PANX1 (11q21)PANX1 (11q21) / HEPHL1 (11q21)

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)HEPHL1   30477
Cards
Entrez_Gene (NCBI)HEPHL1  341208  hephaestin-like 1
Aliases
GeneCards (Weizmann)HEPHL1
Ensembl hg19 (Hinxton)ENSG00000181333 [Gene_View]  chr11:93754378-93847374 [Contig_View]  HEPHL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000181333 [Gene_View]  chr11:93754378-93847374 [Contig_View]  HEPHL1 [Vega]
ICGC DataPortalENSG00000181333
TCGA cBioPortalHEPHL1
AceView (NCBI)HEPHL1
Genatlas (Paris)HEPHL1
WikiGenes341208
SOURCE (Princeton)HEPHL1
Genetics Home Reference (NIH)HEPHL1
Genomic and cartography
GoldenPath hg19 (UCSC)HEPHL1  -     chr11:93754378-93847374 +  11q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HEPHL1  -     11q21   [Description]    (hg38-Dec_2013)
EnsemblHEPHL1 - 11q21 [CytoView hg19]  HEPHL1 - 11q21 [CytoView hg38]
Mapping of homologs : NCBIHEPHL1 [Mapview hg19]  HEPHL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB231719 BX641008 EG328157
RefSeq transcript (Entrez)NM_001098672
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_033899 NW_004929380
Consensus coding sequences : CCDS (NCBI)HEPHL1
Cluster EST : UnigeneHs.669645 [ NCBI ]
CGAP (NCI)Hs.669645
Alternative Splicing GalleryENSG00000181333
Gene ExpressionHEPHL1 [ NCBI-GEO ]   HEPHL1 [ EBI - ARRAY_EXPRESS ]   HEPHL1 [ SEEK ]   HEPHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)HEPHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)341208
GTEX Portal (Tissue expression)HEPHL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6MZM0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6MZM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6MZM0
Splice isoforms : SwissVarQ6MZM0
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusQ6MZM0
Domaine pattern : Prosite (Expaxy)MULTICOPPER_OXIDASE1 (PS00079)    MULTICOPPER_OXIDASE2 (PS00080)   
Domains : Interpro (EBI)Cu-oxidase_2    Cu-oxidase_3    Cu_oxidase_Cu_BS    Cupredoxin   
Domain families : Pfam (Sanger)Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)   
Domain families : Pfam (NCBI)pfam07731    pfam07732   
Conserved Domain (NCBI)HEPHL1
DMDM Disease mutations341208
Blocks (Seattle)HEPHL1
SuperfamilyQ6MZM0
Human Protein AtlasENSG00000181333
Peptide AtlasQ6MZM0
IPIIPI00848044   
Protein Interaction databases
DIP (DOE-UCLA)Q6MZM0
IntAct (EBI)Q6MZM0
FunCoupENSG00000181333
BioGRIDHEPHL1
STRING (EMBL)HEPHL1
ZODIACHEPHL1
Ontologies - Pathways
QuickGOQ6MZM0
Ontology : AmiGOferroxidase activity  copper ion binding  copper ion transport  integral component of membrane  oxidation-reduction process  
Ontology : EGO-EBIferroxidase activity  copper ion binding  copper ion transport  integral component of membrane  oxidation-reduction process  
NDEx NetworkHEPHL1
Atlas of Cancer Signalling NetworkHEPHL1
Wikipedia pathwaysHEPHL1
Orthology - Evolution
OrthoDB341208
GeneTree (enSembl)ENSG00000181333
Phylogenetic Trees/Animal Genes : TreeFamHEPHL1
HOVERGENQ6MZM0
HOGENOMQ6MZM0
Homologs : HomoloGeneHEPHL1
Homology/Alignments : Family Browser (UCSC)HEPHL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEPHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEPHL1
dbVarHEPHL1
ClinVarHEPHL1
1000_GenomesHEPHL1 
Exome Variant ServerHEPHL1
ExAC (Exome Aggregation Consortium)HEPHL1 (select the gene name)
Genetic variants : HAPMAP341208
Genomic Variants (DGV)HEPHL1 [DGVbeta]
DECIPHER (Syndromes)11:93754378-93847374  ENSG00000181333
CONAN: Copy Number AnalysisHEPHL1 
Mutations
ICGC Data PortalHEPHL1 
TCGA Data PortalHEPHL1 
Broad Tumor PortalHEPHL1
OASIS PortalHEPHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEPHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEPHL1
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 HEPHL1
DgiDB (Drug Gene Interaction Database)HEPHL1
DoCM (Curated mutations)HEPHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEPHL1 (select a term)
intoGenHEPHL1
Cancer3DHEPHL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenHEPHL1
Genetic Testing Registry HEPHL1
NextProtQ6MZM0 [Medical]
TSGene341208
GENETestsHEPHL1
Huge Navigator HEPHL1 [HugePedia]
snp3D : Map Gene to Disease341208
BioCentury BCIQHEPHL1
ClinGenHEPHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD341208
Chemical/Pharm GKB GenePA134873144
Clinical trialHEPHL1
Miscellaneous
canSAR (ICR)HEPHL1 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEPHL1
EVEXHEPHL1
GoPubMedHEPHL1
iHOPHEPHL1
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 12:07:38 CET 2017

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