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EMID1 (EMI domain containing 1)

Identity

Alias_symbol (synonym)EMU1
hEmu1
EMI5
Other alias
HGNC (Hugo) EMID1
LocusID (NCBI) 129080
Atlas_Id 62819
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29601901 and ends at 29655586 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EMID1 (22q12.2) / CBY1 (22q13.1)PPP6R2 (22q13.33) / EMID1 (22q12.2)

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)EMID1   18036
Cards
Entrez_Gene (NCBI)EMID1  129080  EMI domain containing 1
AliasesEMI5; EMU1
GeneCards (Weizmann)EMID1
Ensembl hg19 (Hinxton)ENSG00000186998 [Gene_View]  chr22:29601901-29655586 [Contig_View]  EMID1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000186998 [Gene_View]  chr22:29601901-29655586 [Contig_View]  EMID1 [Vega]
ICGC DataPortalENSG00000186998
TCGA cBioPortalEMID1
AceView (NCBI)EMID1
Genatlas (Paris)EMID1
WikiGenes129080
SOURCE (Princeton)EMID1
Genetics Home Reference (NIH)EMID1
Genomic and cartography
GoldenPath hg19 (UCSC)EMID1  -     chr22:29601901-29655586 +  22q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EMID1  -     22q12.2   [Description]    (hg38-Dec_2013)
EnsemblEMID1 - 22q12.2 [CytoView hg19]  EMID1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIEMID1 [Mapview hg19]  EMID1 [Mapview hg38]
OMIM608926   
Gene and transcription
Genbank (Entrez)AJ416090 AK097163 AL831910 BC013830 BC046358
RefSeq transcript (Entrez)NM_001267895 NM_133455
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)EMID1
Cluster EST : UnigeneHs.289106 [ NCBI ]
CGAP (NCI)Hs.289106
Alternative Splicing GalleryENSG00000186998
Gene ExpressionEMID1 [ NCBI-GEO ]   EMID1 [ EBI - ARRAY_EXPRESS ]   EMID1 [ SEEK ]   EMID1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMID1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129080
GTEX Portal (Tissue expression)EMID1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A84   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A84
Splice isoforms : SwissVarQ96A84
PhosPhoSitePlusQ96A84
Domaine pattern : Prosite (Expaxy)EMI (PS51041)   
Domains : Interpro (EBI)Collagen    EMI_domain   
Domain families : Pfam (Sanger)Collagen (PF01391)    EMI (PF07546)   
Domain families : Pfam (NCBI)pfam01391    pfam07546   
Conserved Domain (NCBI)EMID1
DMDM Disease mutations129080
Blocks (Seattle)EMID1
SuperfamilyQ96A84
Human Protein AtlasENSG00000186998
Peptide AtlasQ96A84
HPRD09936
IPIIPI00419286   IPI00423683   IPI00473000   IPI00878348   IPI00643817   IPI00642638   IPI00877950   IPI00878102   IPI00878462   IPI00877982   IPI00878177   
Protein Interaction databases
DIP (DOE-UCLA)Q96A84
IntAct (EBI)Q96A84
FunCoupENSG00000186998
BioGRIDEMID1
STRING (EMBL)EMID1
ZODIACEMID1
Ontologies - Pathways
QuickGOQ96A84
Ontology : AmiGOproteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum  Golgi apparatus  
Ontology : EGO-EBIproteinaceous extracellular matrix  collagen trimer  endoplasmic reticulum  Golgi apparatus  
NDEx NetworkEMID1
Atlas of Cancer Signalling NetworkEMID1
Wikipedia pathwaysEMID1
Orthology - Evolution
OrthoDB129080
GeneTree (enSembl)ENSG00000186998
Phylogenetic Trees/Animal Genes : TreeFamEMID1
HOVERGENQ96A84
HOGENOMQ96A84
Homologs : HomoloGeneEMID1
Homology/Alignments : Family Browser (UCSC)EMID1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMID1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMID1
dbVarEMID1
ClinVarEMID1
1000_GenomesEMID1 
Exome Variant ServerEMID1
ExAC (Exome Aggregation Consortium)EMID1 (select the gene name)
Genetic variants : HAPMAP129080
Genomic Variants (DGV)EMID1 [DGVbeta]
DECIPHER (Syndromes)22:29601901-29655586  ENSG00000186998
CONAN: Copy Number AnalysisEMID1 
Mutations
ICGC Data PortalEMID1 
TCGA Data PortalEMID1 
Broad Tumor PortalEMID1
OASIS PortalEMID1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMID1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMID1
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 EMID1
DgiDB (Drug Gene Interaction Database)EMID1
DoCM (Curated mutations)EMID1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMID1 (select a term)
intoGenEMID1
Cancer3DEMID1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608926   
Orphanet
MedgenEMID1
Genetic Testing Registry EMID1
NextProtQ96A84 [Medical]
TSGene129080
GENETestsEMID1
Huge Navigator EMID1 [HugePedia]
snp3D : Map Gene to Disease129080
BioCentury BCIQEMID1
ClinGenEMID1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD129080
Chemical/Pharm GKB GenePA134921314
Clinical trialEMID1
Miscellaneous
canSAR (ICR)EMID1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMID1
EVEXEMID1
GoPubMedEMID1
iHOPEMID1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:02:51 CET 2017

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