EWSR1


Summary: This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:133450
PHARMGKB IDPA27921
Map Location22q12.2

GO terms in EWSR1


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IBA GO:0003712 transcription coregulator activity
MF HDA GO:0003723 RNA binding
MF IPI GO:0005515 protein binding
MF IEA GO:0005516 calmodulin binding
MF IPI GO:0042802 identical protein binding
MF IEA GO:0046872 metal ion binding
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Gene expression in normal tissue: EWSR1

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 54BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 3UTERUtissue: UTERU cancer: UTERUS model num: 0UTERUStissue: UTERUS cancer: Endometrial Carcinoma (UCEC) model num: 4

Gene-drug pathway distribution

undefined17DNA replication1Th17 cell differentiation1Leukocyte transendothelial migration1Apoptosis regulation1Biosynthesis of secondary metabolites1RTK signaling1Genome integrity1Purine metabolism1Other, kinases1

Pathways in EWSR1


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Database
Pathway ID
Pathway Des.
pid bard1pathway BARD1 signaling events
netpath Pathway_TGF_beta_Receptor TGF_beta_Receptor
kegg hsa05202 Transcriptional misregulation in cancer - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD639 YK 4-279 2
iGMDRD280 CYTOCHALASIN B 4
iGMDRD901 ELCPK 2
iGMDRD154 NSC23766 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in EWSR1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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