Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HEPHL1 (hephaestin like 1)

Identity

Alias (NCBI)HJDD
ZP
HGNC (Hugo) HEPHL1
HGNC Alias symbDKFZp686F22190
LocusID (NCBI) 341208
Atlas_Id 64239
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 94021354 and ends at 94114208 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)
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    hephaestin like 1
AliasesHJDD; ZP
GeneCards (Weizmann)HEPHL1
Ensembl hg19 (Hinxton)ENSG00000181333 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181333 [Gene_View]  ENSG00000181333 [Sequence]  chr11:94021354-94114208 [Contig_View]  HEPHL1 [Vega]
ICGC DataPortalENSG00000181333
TCGA cBioPortalHEPHL1
AceView (NCBI)HEPHL1
Genatlas (Paris)HEPHL1
SOURCE (Princeton)HEPHL1
Genetics Home Reference (NIH)HEPHL1
Genomic and cartography
GoldenPath hg38 (UCSC)HEPHL1  -     chr11:94021354-94114208 +  11q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEPHL1  -     11q21   [Description]    (hg19-Feb_2009)
GoldenPathHEPHL1 - 11q21 [CytoView hg19]  HEPHL1 - 11q21 [CytoView hg38]
ImmunoBaseENSG00000181333
Genome Data Viewer NCBIHEPHL1 [Mapview hg19]  
OMIM261990   618455   
Gene and transcription
Genbank (Entrez)AB231719 BX641008 EG328157
RefSeq transcript (Entrez)NM_001098672
Consensus coding sequences : CCDS (NCBI)HEPHL1
Gene ExpressionHEPHL1 [ NCBI-GEO ]   HEPHL1 [ EBI - ARRAY_EXPRESS ]   HEPHL1 [ SEEK ]   HEPHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)HEPHL1 [ Firebrowse - Broad ]
GenevisibleExpression of HEPHL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)341208
GTEX Portal (Tissue expression)HEPHL1
Human Protein AtlasENSG00000181333-HEPHL1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ6MZM0
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   
Domain families : Pfam (Sanger)Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)   
Domain families : Pfam (NCBI)pfam07731    pfam07732   
Conserved Domain (NCBI)HEPHL1
SuperfamilyQ6MZM0
AlphaFold pdb e-kbQ6MZM0   
Human Protein Atlas [tissue]ENSG00000181333-HEPHL1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q6MZM0
IntAct (EBI)Q6MZM0
BioGRIDHEPHL1
STRING (EMBL)HEPHL1
ZODIACHEPHL1
Ontologies - Pathways
QuickGOQ6MZM0
Ontology : AmiGOferroxidase activity  ferroxidase activity  copper ion binding  plasma membrane  copper ion transport  iron ion transport  cellular iron ion homeostasis  integral component of membrane  oxidoreductase activity  iron ion homeostasis  iron ion homeostasis  
Ontology : EGO-EBIferroxidase activity  ferroxidase activity  copper ion binding  plasma membrane  copper ion transport  iron ion transport  cellular iron ion homeostasis  integral component of membrane  oxidoreductase activity  iron ion homeostasis  iron ion homeostasis  
NDEx NetworkHEPHL1
Atlas of Cancer Signalling NetworkHEPHL1
Wikipedia pathwaysHEPHL1
Orthology - Evolution
OrthoDB341208
GeneTree (enSembl)ENSG00000181333
Phylogenetic Trees/Animal Genes : TreeFamHEPHL1
Homologs : HomoloGeneHEPHL1
Homology/Alignments : Family Browser (UCSC)HEPHL1
Gene fusions - Rearrangements
Fusion : QuiverHEPHL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEPHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEPHL1
dbVarHEPHL1
ClinVarHEPHL1
MonarchHEPHL1
1000_GenomesHEPHL1 
Exome Variant ServerHEPHL1
GNOMAD BrowserENSG00000181333
Varsome BrowserHEPHL1
ACMGHEPHL1 variants
VarityQ6MZM0
Genomic Variants (DGV)HEPHL1 [DGVbeta]
DECIPHERHEPHL1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DHEPHL1
Mutations and Diseases : HGMDHEPHL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHEPHL1
DgiDB (Drug Gene Interaction Database)HEPHL1
DoCM (Curated mutations)HEPHL1
CIViC (Clinical Interpretations of Variants in Cancer)HEPHL1
Cancer3DHEPHL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261990    618455   
Orphanet
DisGeNETHEPHL1
MedgenHEPHL1
Genetic Testing Registry HEPHL1
NextProtQ6MZM0 [Medical]
GENETestsHEPHL1
Target ValidationHEPHL1
Huge Navigator HEPHL1 [HugePedia]
ClinGenHEPHL1
Clinical trials, drugs, therapy
MyCancerGenomeHEPHL1
Protein Interactions : CTDHEPHL1
Pharm GKB GenePA134873144
PharosQ6MZM0
Clinical trialHEPHL1
Miscellaneous
canSAR (ICR)HEPHL1
HarmonizomeHEPHL1
DataMed IndexHEPHL1
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHEPHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:52:51 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.