EWSR1

Chr 22q12.2

EWS RNA binding protein 1

Aliases:: EWS
MANE:: ENST00000397938.7

OMIM: 133450 ↗NCBI: 2130 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EWSR1 · Q01844

v62025-08-01

Predicted Aligned Error matrix for EWSR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

50.4/ 100

Low

656 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)16%
Low(50–70)11%
Very low(< 50)71%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.47
Ewing sarcoma
0.41
desmoplastic small round cell tumor
0.38
clear cell sarcoma
0.38
extraskeletal myxoid chondrosarcoma
0.38
synovial sarcoma
0.38
myoepithelial tumor
0.38
rhabdomyosarcoma
0.38
Ewing sarcoma/peripheral primitive neuroectodermal tumor
0.38
liposarcoma
0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RNA-binding protein EWS

Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes