Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ESS2 (ess-2 splicing factor homolog)

Identity

Alias_namesDGCR13
DGCR14
DiGeorge syndrome critical region gene 13
DiGeorge syndrome critical region gene 14
Alias_symbol (synonym)DGSI
Es2el
ES2
DGS-H
ESS-2
bis1
Other aliasDGS-I
DGSH
HGNC (Hugo) ESS2
LocusID (NCBI) 8220
Atlas_Id 79390
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19130279 and ends at 19144677 bp from pter ( according to hg38-Dec_2013)
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


External links

Nomenclature
HGNC (Hugo)ESS2   16817
Cards
Entrez_Gene (NCBI)ESS2  8220  ess-2 splicing factor homolog
AliasesDGCR13; DGCR14; DGS-H; DGS-I; 
DGSH; DGSI; ES2; ESS-2; Es2el; bis1
GeneCards (Weizmann)ESS2
Ensembl hg19 (Hinxton)ENSG00000100056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100056 [Gene_View]  chr22:19130279-19144677 [Contig_View]  ESS2 [Vega]
ICGC DataPortalENSG00000100056
TCGA cBioPortalESS2
AceView (NCBI)ESS2
Genatlas (Paris)ESS2
WikiGenes8220
SOURCE (Princeton)ESS2
Genetics Home Reference (NIH)ESS2
Genomic and cartography
GoldenPath hg38 (UCSC)ESS2  -     chr22:19130279-19144677 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESS2  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblESS2 - 22q11.21 [CytoView hg19]  ESS2 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIESS2 [Mapview hg19]  ESS2 [Mapview hg38]
OMIM192430   601755   
Gene and transcription
Genbank (Entrez)AK095932 BC003015 BC006542 BC037829 BC069275
RefSeq transcript (Entrez)NM_022719
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESS2
Cluster EST : UnigeneHs.741535 [ NCBI ]
CGAP (NCI)Hs.741535
Alternative Splicing GalleryENSG00000100056
Gene ExpressionESS2 [ NCBI-GEO ]   ESS2 [ EBI - ARRAY_EXPRESS ]   ESS2 [ SEEK ]   ESS2 [ MEM ]
Gene Expression Viewer (FireBrowse)ESS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8220
GTEX Portal (Tissue expression)ESS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DF8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DF8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DF8
Splice isoforms : SwissVarQ96DF8
PhosPhoSitePlusQ96DF8
Domains : Interpro (EBI)Nuclear_protein_DGCR14   
Domain families : Pfam (Sanger)Es2 (PF09751)   
Domain families : Pfam (NCBI)pfam09751   
Conserved Domain (NCBI)ESS2
DMDM Disease mutations8220
Blocks (Seattle)ESS2
SuperfamilyQ96DF8
Human Protein AtlasENSG00000100056
Peptide AtlasQ96DF8
IPIIPI00165171   IPI00853467   
Protein Interaction databases
DIP (DOE-UCLA)Q96DF8
IntAct (EBI)Q96DF8
FunCoupENSG00000100056
BioGRIDESS2
STRING (EMBL)ESS2
ZODIACESS2
Ontologies - Pathways
QuickGOQ96DF8
Ontology : AmiGOmRNA splicing, via spliceosome  molecular_function  protein binding  nucleus  nervous system development  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  molecular_function  protein binding  nucleus  nervous system development  catalytic step 2 spliceosome  
NDEx NetworkESS2
Atlas of Cancer Signalling NetworkESS2
Wikipedia pathwaysESS2
Orthology - Evolution
OrthoDB8220
GeneTree (enSembl)ENSG00000100056
Phylogenetic Trees/Animal Genes : TreeFamESS2
HOVERGENQ96DF8
HOGENOMQ96DF8
Homologs : HomoloGeneESS2
Homology/Alignments : Family Browser (UCSC)ESS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESS2
dbVarESS2
ClinVarESS2
1000_GenomesESS2 
Exome Variant ServerESS2
ExAC (Exome Aggregation Consortium)ESS2 (select the gene name)
Genetic variants : HAPMAP8220
Genomic Variants (DGV)ESS2 [DGVbeta]
DECIPHERESS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESS2 
Mutations
ICGC Data PortalESS2 
TCGA Data PortalESS2 
Broad Tumor PortalESS2
OASIS PortalESS2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDESS2
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 ESS2
DgiDB (Drug Gene Interaction Database)ESS2
DoCM (Curated mutations)ESS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESS2 (select a term)
intoGenESS2
Cancer3DESS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192430    601755   
Orphanet
MedgenESS2
Genetic Testing Registry ESS2
NextProtQ96DF8 [Medical]
TSGene8220
GENETestsESS2
Target ValidationESS2
Huge Navigator ESS2 [HugePedia]
snp3D : Map Gene to Disease8220
BioCentury BCIQESS2
ClinGenESS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8220
Chemical/Pharm GKB GenePA134913100
Clinical trialESS2
Miscellaneous
canSAR (ICR)ESS2 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESS2
EVEXESS2
GoPubMedESS2
iHOPESS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:07:22 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.