Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERMAP (erythroblast membrane-associated protein (Scianna blood group))

Identity

Other namesBTN5
PRO2801
RD
SC
HGNC (Hugo) ERMAP
LocusID (NCBI) 114625
Atlas_Id 40487
Location 1p34.2
Location_base_pair Starts at 43282776 and ends at 43310660 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)ERMAP   15743
Cards
Entrez_Gene (NCBI)ERMAP  114625  erythroblast membrane-associated protein (Scianna blood group)
GeneCards (Weizmann)ERMAP
Ensembl hg19 (Hinxton)ENSG00000164010 [Gene_View]  chr1:43282776-43310660 [Contig_View]  ERMAP [Vega]
Ensembl hg38 (Hinxton)ENSG00000164010 [Gene_View]  chr1:43282776-43310660 [Contig_View]  ERMAP [Vega]
ICGC DataPortalENSG00000164010
TCGA cBioPortalERMAP
AceView (NCBI)ERMAP
Genatlas (Paris)ERMAP
WikiGenes114625
SOURCE (Princeton)ERMAP
Genomic and cartography
GoldenPath hg19 (UCSC)ERMAP  -     chr1:43282776-43310660 +  1p34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ERMAP  -     1p34.2   [Description]    (hg38-Dec_2013)
EnsemblERMAP - 1p34.2 [CytoView hg19]  ERMAP - 1p34.2 [CytoView hg38]
Mapping of homologs : NCBIERMAP [Mapview hg19]  ERMAP [Mapview hg38]
OMIM111620   111750   609017   
Gene and transcription
Genbank (Entrez)AF119899 AF311284 AF311285 AK056138 AK125447
RefSeq transcript (Entrez)NM_001017922 NM_018538
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008749 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)ERMAP
Cluster EST : UnigeneHs.439437 [ NCBI ]
CGAP (NCI)Hs.439437
Alternative Splicing : Fast-db (Paris)GSHG0000435
Alternative Splicing GalleryENSG00000164010
Gene ExpressionERMAP [ NCBI-GEO ]     ERMAP [ SEEK ]   ERMAP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PL5 (Uniprot)
NextProtQ96PL5  [Medical]  [Publications]
With graphics : InterProQ96PL5
Splice isoforms : SwissVarQ96PL5 (Swissvar)
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)B30.2/SPRY    Butyrophylin    ConA-like_dom    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set    PRY    SPRY_dom   
Related proteins : CluSTrQ96PL5
Domain families : Pfam (Sanger)PRY (PF13765)    SPRY (PF00622)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam13765    pfam00622    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  PRY (SM00589)  SPRY (SM00449)  
DMDM Disease mutations114625
Blocks (Seattle)Q96PL5
Human Protein AtlasENSG00000164010
Peptide AtlasQ96PL5
HPRD12355
IPIIPI00044556   IPI00032004   IPI00647116   
Protein Interaction databases
DIP (DOE-UCLA)Q96PL5
IntAct (EBI)Q96PL5
FunCoupENSG00000164010
BioGRIDERMAP
IntegromeDBERMAP
STRING (EMBL)ERMAP
Ontologies - Pathways
QuickGOQ96PL5
Ontology : AmiGOplasma membrane  integral component of membrane  cytoplasmic vesicle  
Ontology : EGO-EBIplasma membrane  integral component of membrane  cytoplasmic vesicle  
Protein Interaction DatabaseERMAP
DoCM (Curated mutations)ERMAP
Wikipedia pathwaysERMAP
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerERMAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERMAP
dbVarERMAP
ClinVarERMAP
1000_GenomesERMAP 
Exome Variant ServerERMAP
SNP (GeneSNP Utah)ERMAP
SNP : HGBaseERMAP
Genetic variants : HAPMAPERMAP
Genomic Variants (DGV)ERMAP [DGVbeta]
Mutations
ICGC Data PortalERMAP 
TCGA Data PortalERMAP 
Tumor PortalERMAP
Somatic Mutations in Cancer : COSMICERMAP 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:43282776-43310660
CONAN: Copy Number AnalysisERMAP 
Mutations and Diseases : HGMDERMAP
OMIM111620    111750    609017   
MedgenERMAP
NextProtQ96PL5 [Medical]
GENETestsERMAP
Disease Genetic AssociationERMAP
Huge Navigator ERMAP [HugePedia]  ERMAP [HugeCancerGEM]
snp3D : Map Gene to Disease114625
DGIdb (Drug Gene Interaction db)ERMAP
BioCentury BCIQERMAP
General knowledge
Homologs : HomoloGeneERMAP
Homology/Alignments : Family Browser (UCSC)ERMAP
Phylogenetic Trees/Animal Genes : TreeFamERMAP
Chemical/Protein Interactions : CTD114625
Chemical/Pharm GKB GenePA27860
Clinical trialERMAP
Cancer Resource (Charite)ENSG00000164010
Other databases
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
CoreMineERMAP
GoPubMedERMAP
iHOPERMAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:31:42 CEST 2015

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