Ewing sarcoma breakpoint region 1

URI: https://gptkb.org/entity/Ewing_sarcoma_breakpoint_region_1
GPTKB entity
Statements (46)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:EWS
gptkb:EWS_RNA-binding_protein_1
gptkbp:associatedWith gptkb:Ewing_sarcoma
gptkb:myxoid_liposarcoma
gptkb:desmoplastic_small_round_cell_tumor
gptkbp:discoveredBy 1992
gptkbp:encodes RNA-binding protein EWS
gptkbp:Entrez_Gene_ID gptkb:ENSG00000084674
2130
gptkbp:expressedIn gptkb:skeletal_muscle
gptkb:testis
brain
various tissues
gptkbp:function RNA processing
transcriptional regulation
gptkbp:fusionPartners gptkb:WT1
gptkb:ATF1
gptkb:DDIT3
gptkb:ERG
gptkb:NR4A3
gptkb:POU5F1
gptkb:FLI1
gptkbp:geneType protein coding
gptkbp:hasTranscriptVariant yes
gptkbp:HGNC_ID HGNC:3508
https://www.w3.org/2000/01/rdf-schema#label Ewing sarcoma breakpoint region 1
gptkbp:interactsWith gptkb:SR_proteins
gptkb:RNA_polymerase_II
gptkb:FUS
gptkb:CREB-binding_protein
gptkb:TAF15
gptkbp:length 656 amino acids
gptkbp:locatedOnChromosome chromosome 22
22q12.2
gptkbp:molecularWeight 68 kDa
gptkbp:mutationAssociatedWith oncogenic fusion proteins
gptkbp:OMIM 133450
gptkbp:orthologInMouse Ewsr1
gptkbp:splicing_variant multiple isoforms
gptkbp:subcellularLocation gptkb:nucleus
gptkb:cytoplasm
gptkbp:symbol gptkb:EWSR1
gptkbp:UniProtID Q01844
gptkbp:bfsParent gptkb:EWSR1
gptkbp:bfsLayer 7