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ECSIT (ECSIT signalling integrator)

Identity

Alias_namesECSIT homolog (Drosophila)
Alias_symbol (synonym)SITPEC
Other alias
HGNC (Hugo) ECSIT
LocusID (NCBI) 51295
Atlas_Id 62720
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 11616731 and ends at 11639987 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PNPLA6 (19p13.2) / ECSIT (19p13.2)RGL3 (19p13.2) / ECSIT (19p13.2)RGL3 ECSIT
PNPLA6 ECSIT

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)ECSIT   29548
Cards
Entrez_Gene (NCBI)ECSIT  51295  ECSIT signalling integrator
AliasesSITPEC
GeneCards (Weizmann)ECSIT
Ensembl hg19 (Hinxton)ENSG00000130159 [Gene_View]  chr19:11616731-11639987 [Contig_View]  ECSIT [Vega]
Ensembl hg38 (Hinxton)ENSG00000130159 [Gene_View]  chr19:11616731-11639987 [Contig_View]  ECSIT [Vega]
ICGC DataPortalENSG00000130159
TCGA cBioPortalECSIT
AceView (NCBI)ECSIT
Genatlas (Paris)ECSIT
WikiGenes51295
SOURCE (Princeton)ECSIT
Genetics Home Reference (NIH)ECSIT
Genomic and cartography
GoldenPath hg19 (UCSC)ECSIT  -     chr19:11616731-11639987 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ECSIT  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblECSIT - 19p13.2 [CytoView hg19]  ECSIT - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIECSIT [Mapview hg19]  ECSIT [Mapview hg38]
OMIM608388   
Gene and transcription
Genbank (Entrez)AF243044 AI336311 AI743680 AK314905 BC000193
RefSeq transcript (Entrez)NM_001142464 NM_001142465 NM_001243204 NM_016581
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)ECSIT
Cluster EST : UnigeneHs.515146 [ NCBI ]
CGAP (NCI)Hs.515146
Alternative Splicing GalleryENSG00000130159
Gene ExpressionECSIT [ NCBI-GEO ]   ECSIT [ EBI - ARRAY_EXPRESS ]   ECSIT [ SEEK ]   ECSIT [ MEM ]
Gene Expression Viewer (FireBrowse)ECSIT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51295
GTEX Portal (Tissue expression)ECSIT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQ95   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQ95  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQ95
Splice isoforms : SwissVarQ9BQ95
PhosPhoSitePlusQ9BQ95
Domains : Interpro (EBI)ECIST_C    ECSIT   
Domain families : Pfam (Sanger)ECIST_Cterm (PF14784)    ECSIT (PF06239)   
Domain families : Pfam (NCBI)pfam14784    pfam06239   
Conserved Domain (NCBI)ECSIT
DMDM Disease mutations51295
Blocks (Seattle)ECSIT
SuperfamilyQ9BQ95
Human Protein AtlasENSG00000130159
Peptide AtlasQ9BQ95
HPRD12225
IPIIPI00106506   IPI00063188   IPI00915447   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQ95
IntAct (EBI)Q9BQ95
FunCoupENSG00000130159
BioGRIDECSIT
STRING (EMBL)ECSIT
ZODIACECSIT
Ontologies - Pathways
QuickGOQ9BQ95
Ontology : AmiGOmesoderm formation  sequence-specific DNA binding transcription factor activity  signal transducer activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  mitochondrion  oxidoreductase activity, acting on NAD(P)H  BMP signaling pathway  innate immune response  regulation of oxidoreductase activity  oxidation-reduction process  
Ontology : EGO-EBImesoderm formation  sequence-specific DNA binding transcription factor activity  signal transducer activity  protein binding  nucleus  nucleoplasm  transcription factor complex  cytoplasm  mitochondrion  oxidoreductase activity, acting on NAD(P)H  BMP signaling pathway  innate immune response  regulation of oxidoreductase activity  oxidation-reduction process  
Pathways : KEGGMAPK signaling pathway   
NDEx NetworkECSIT
Atlas of Cancer Signalling NetworkECSIT
Wikipedia pathwaysECSIT
Orthology - Evolution
OrthoDB51295
GeneTree (enSembl)ENSG00000130159
Phylogenetic Trees/Animal Genes : TreeFamECSIT
HOVERGENQ9BQ95
HOGENOMQ9BQ95
Homologs : HomoloGeneECSIT
Homology/Alignments : Family Browser (UCSC)ECSIT
Gene fusions - Rearrangements
Fusion: TCGARGL3 ECSIT
Fusion: TCGAPNPLA6 ECSIT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECSIT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECSIT
dbVarECSIT
ClinVarECSIT
1000_GenomesECSIT 
Exome Variant ServerECSIT
ExAC (Exome Aggregation Consortium)ECSIT (select the gene name)
Genetic variants : HAPMAP51295
Genomic Variants (DGV)ECSIT [DGVbeta]
DECIPHER (Syndromes)19:11616731-11639987  ENSG00000130159
CONAN: Copy Number AnalysisECSIT 
Mutations
ICGC Data PortalECSIT 
TCGA Data PortalECSIT 
Broad Tumor PortalECSIT
OASIS PortalECSIT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECSIT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECSIT
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ECSIT
DgiDB (Drug Gene Interaction Database)ECSIT
DoCM (Curated mutations)ECSIT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECSIT (select a term)
intoGenECSIT
Cancer3DECSIT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608388   
Orphanet
MedgenECSIT
Genetic Testing Registry ECSIT
NextProtQ9BQ95 [Medical]
TSGene51295
GENETestsECSIT
Huge Navigator ECSIT [HugePedia]
snp3D : Map Gene to Disease51295
BioCentury BCIQECSIT
ClinGenECSIT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51295
Chemical/Pharm GKB GenePA147358104
Clinical trialECSIT
Miscellaneous
canSAR (ICR)ECSIT (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECSIT
EVEXECSIT
GoPubMedECSIT
iHOPECSIT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:30 CET 2017

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