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EMX1 (empty spiracles homeobox 1)

Identity

Alias_namesempty spiracles homolog 1 (Drosophila)
Other alias-
HGNC (Hugo) EMX1
LocusID (NCBI) 2016
Atlas_Id 56214
Location 2p13.2  [Link to chromosome band 2p13]
Location_base_pair Starts at 72917475 and ends at 72934891 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EMX1 (2p13.2) / TARS2 (1q21.3)

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)EMX1   3340
Cards
Entrez_Gene (NCBI)EMX1  2016  empty spiracles homeobox 1
Aliases
GeneCards (Weizmann)EMX1
Ensembl hg19 (Hinxton)ENSG00000135638 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135638 [Gene_View]  chr2:72917475-72934891 [Contig_View]  EMX1 [Vega]
ICGC DataPortalENSG00000135638
TCGA cBioPortalEMX1
AceView (NCBI)EMX1
Genatlas (Paris)EMX1
WikiGenes2016
SOURCE (Princeton)EMX1
Genetics Home Reference (NIH)EMX1
Genomic and cartography
GoldenPath hg38 (UCSC)EMX1  -     chr2:72917475-72934891 +  2p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMX1  -     2p13.2   [Description]    (hg19-Feb_2009)
EnsemblEMX1 - 2p13.2 [CytoView hg19]  EMX1 - 2p13.2 [CytoView hg38]
Mapping of homologs : NCBIEMX1 [Mapview hg19]  EMX1 [Mapview hg38]
OMIM600034   
Gene and transcription
Genbank (Entrez)BC037242 BC045762 BE501779 CB156771 X68879
RefSeq transcript (Entrez)NM_001040404 NM_004097
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMX1
Cluster EST : UnigeneHs.516090 [ NCBI ]
CGAP (NCI)Hs.516090
Alternative Splicing GalleryENSG00000135638
Gene ExpressionEMX1 [ NCBI-GEO ]   EMX1 [ EBI - ARRAY_EXPRESS ]   EMX1 [ SEEK ]   EMX1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2016
GTEX Portal (Tissue expression)EMX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04741   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04741  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04741
Splice isoforms : SwissVarQ04741
PhosPhoSitePlusQ04741
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)EMX1
DMDM Disease mutations2016
Blocks (Seattle)EMX1
SuperfamilyQ04741
Human Protein AtlasENSG00000135638
Peptide AtlasQ04741
HPRD08963
IPIIPI00942065   IPI01021217   IPI01020790   IPI00790335   IPI00374132   
Protein Interaction databases
DIP (DOE-UCLA)Q04741
IntAct (EBI)Q04741
FunCoupENSG00000135638
BioGRIDEMX1
STRING (EMBL)EMX1
ZODIACEMX1
Ontologies - Pathways
QuickGOQ04741
Ontology : AmiGOin utero embryonic development  protein binding  nucleus  nucleolus  cytoplasm  regulation of transcription, DNA-templated  post-embryonic development  cerebral cortex regionalization  cerebral cortex neuron differentiation  response to drug  sequence-specific DNA binding  brain morphogenesis  homeostasis of number of cells  radial glial cell differentiation  neuroepithelial cell differentiation  regulation of oligodendrocyte progenitor proliferation  neuron projection extension  
Ontology : EGO-EBIin utero embryonic development  protein binding  nucleus  nucleolus  cytoplasm  regulation of transcription, DNA-templated  post-embryonic development  cerebral cortex regionalization  cerebral cortex neuron differentiation  response to drug  sequence-specific DNA binding  brain morphogenesis  homeostasis of number of cells  radial glial cell differentiation  neuroepithelial cell differentiation  regulation of oligodendrocyte progenitor proliferation  neuron projection extension  
NDEx NetworkEMX1
Atlas of Cancer Signalling NetworkEMX1
Wikipedia pathwaysEMX1
Orthology - Evolution
OrthoDB2016
GeneTree (enSembl)ENSG00000135638
Phylogenetic Trees/Animal Genes : TreeFamEMX1
HOVERGENQ04741
HOGENOMQ04741
Homologs : HomoloGeneEMX1
Homology/Alignments : Family Browser (UCSC)EMX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMX1
dbVarEMX1
ClinVarEMX1
1000_GenomesEMX1 
Exome Variant ServerEMX1
ExAC (Exome Aggregation Consortium)EMX1 (select the gene name)
Genetic variants : HAPMAP2016
Genomic Variants (DGV)EMX1 [DGVbeta]
DECIPHEREMX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMX1 
Mutations
ICGC Data PortalEMX1 
TCGA Data PortalEMX1 
Broad Tumor PortalEMX1
OASIS PortalEMX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EMX1
DgiDB (Drug Gene Interaction Database)EMX1
DoCM (Curated mutations)EMX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMX1 (select a term)
intoGenEMX1
Cancer3DEMX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600034   
Orphanet
MedgenEMX1
Genetic Testing Registry EMX1
NextProtQ04741 [Medical]
TSGene2016
GENETestsEMX1
Target ValidationEMX1
Huge Navigator EMX1 [HugePedia]
snp3D : Map Gene to Disease2016
BioCentury BCIQEMX1
ClinGenEMX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2016
Chemical/Pharm GKB GenePA27777
Clinical trialEMX1
Miscellaneous
canSAR (ICR)EMX1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMX1
EVEXEMX1
GoPubMedEMX1
iHOPEMX1
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 25 19:06:56 CEST 2017

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