Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HBE1 (hemoglobin subunit epsilon 1)

Identity

Alias (NCBI)HBE
HGNC (Hugo) HBE1
HGNC Alias symbHBE
HGNC Previous namehemoglobin, epsilon 1
LocusID (NCBI) 3046
Atlas_Id 56319
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 5268346 and ends at 5269945 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)

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)HBE1   4830
Cards
Entrez_Gene (NCBI)HBE1  3046  hemoglobin subunit epsilon 1
AliasesHBE
GeneCards (Weizmann)HBE1
Ensembl hg19 (Hinxton)ENSG00000213931 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213931 [Gene_View]  ENSG00000213931 [Sequence]  chr11:5268346-5269945 [Contig_View]  HBE1 [Vega]
ICGC DataPortalENSG00000213931
TCGA cBioPortalHBE1
AceView (NCBI)HBE1
Genatlas (Paris)HBE1
WikiGenes3046
SOURCE (Princeton)HBE1
Genetics Home Reference (NIH)HBE1
Genomic and cartography
GoldenPath hg38 (UCSC)HBE1  -     chr11:5268346-5269945 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HBE1  -     11p15.4   [Description]    (hg19-Feb_2009)
GoldenPathHBE1 - 11p15.4 [CytoView hg19]  HBE1 - 11p15.4 [CytoView hg38]
ImmunoBaseENSG00000213931
genome Data Viewer NCBIHBE1 [Mapview hg19]  
OMIM142100   
Gene and transcription
Genbank (Entrez)BC015537 CR541912
RefSeq transcript (Entrez)NM_005330
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HBE1
Alternative Splicing GalleryENSG00000213931
Gene ExpressionHBE1 [ NCBI-GEO ]   HBE1 [ EBI - ARRAY_EXPRESS ]   HBE1 [ SEEK ]   HBE1 [ MEM ]
Gene Expression Viewer (FireBrowse)HBE1 [ Firebrowse - Broad ]
GenevisibleExpression of HBE1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3046
GTEX Portal (Tissue expression)HBE1
Human Protein AtlasENSG00000213931-HBE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02100   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02100  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02100
Splice isoforms : SwissVarP02100
PhosPhoSitePlusP02100
Domaine pattern : Prosite (Expaxy)GLOBIN (PS01033)   
Domains : Interpro (EBI)Globin    Globin-like_sf    Globin/Proto    Haemoglobin_b   
Domain families : Pfam (Sanger)Globin (PF00042)   
Domain families : Pfam (NCBI)pfam00042   
Conserved Domain (NCBI)HBE1
DMDM Disease mutations3046
Blocks (Seattle)HBE1
PDB (RSDB)1A9W   
PDB Europe1A9W   
PDB (PDBSum)1A9W   
PDB (IMB)1A9W   
Structural Biology KnowledgeBase1A9W   
SCOP (Structural Classification of Proteins)1A9W   
CATH (Classification of proteins structures)1A9W   
SuperfamilyP02100
Human Protein Atlas [tissue]ENSG00000213931-HBE1 [tissue]
Peptide AtlasP02100
HPRD00788
IPIIPI00217471   IPI00816060   IPI00853641   
Protein Interaction databases
DIP (DOE-UCLA)P02100
IntAct (EBI)P02100
FunCoupENSG00000213931
BioGRIDHBE1
STRING (EMBL)HBE1
ZODIACHBE1
Ontologies - Pathways
QuickGOP02100
Ontology : AmiGOperoxidase activity  oxygen carrier activity  protein binding  cytosol  hemoglobin complex  blood coagulation  response to organic cyclic compound  oxygen transport  oxygen binding  heme binding  haptoglobin binding  hemoglobin alpha binding  haptoglobin-hemoglobin complex  hydrogen peroxide catabolic process  organic acid binding  protein-containing complex binding  metal ion binding  blood microparticle  cellular oxidant detoxification  
Ontology : EGO-EBIperoxidase activity  oxygen carrier activity  protein binding  cytosol  hemoglobin complex  blood coagulation  response to organic cyclic compound  oxygen transport  oxygen binding  heme binding  haptoglobin binding  hemoglobin alpha binding  haptoglobin-hemoglobin complex  hydrogen peroxide catabolic process  organic acid binding  protein-containing complex binding  metal ion binding  blood microparticle  cellular oxidant detoxification  
NDEx NetworkHBE1
Atlas of Cancer Signalling NetworkHBE1
Wikipedia pathwaysHBE1
Orthology - Evolution
OrthoDB3046
GeneTree (enSembl)ENSG00000213931
Phylogenetic Trees/Animal Genes : TreeFamHBE1
HOGENOMP02100
Homologs : HomoloGeneHBE1
Homology/Alignments : Family Browser (UCSC)HBE1
Gene fusions - Rearrangements
Fusion : QuiverHBE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHBE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HBE1
dbVarHBE1
ClinVarHBE1
MonarchHBE1
1000_GenomesHBE1 
Exome Variant ServerHBE1
GNOMAD BrowserENSG00000213931
Varsome BrowserHBE1
Genetic variants : HAPMAP3046
Genomic Variants (DGV)HBE1 [DGVbeta]
DECIPHERHBE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHBE1 
Mutations
ICGC Data PortalHBE1 
TCGA Data PortalHBE1 
Broad Tumor PortalHBE1
OASIS PortalHBE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHBE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHBE1
Mutations and Diseases : HGMDHBE1
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 HBE1
DgiDB (Drug Gene Interaction Database)HBE1
DoCM (Curated mutations)HBE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HBE1 (select a term)
intoGenHBE1
Cancer3DHBE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142100   
Orphanet
DisGeNETHBE1
MedgenHBE1
Genetic Testing Registry HBE1
NextProtP02100 [Medical]
TSGene3046
GENETestsHBE1
Target ValidationHBE1
Huge Navigator HBE1 [HugePedia]
snp3D : Map Gene to Disease3046
BioCentury BCIQHBE1
ClinGenHBE1
Clinical trials, drugs, therapy
Protein Interactions : CTD3046
Pharm GKB GenePA29205
Clinical trialHBE1
Miscellaneous
canSAR (ICR)HBE1 (select the gene name)
HarmonizomeHBE1
DataMed IndexHBE1
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHBE1
EVEXHBE1
GoPubMedHBE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:14:00 CEST 2020
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