AutismKB 2.0

Annotation Detail for EWSR1


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Basic Information Top
Gene Symbol:EWSR1 ( EWS,bK984G1.4 )
Gene Full Name: Ewing sarcoma breakpoint region 1
Band: 22q12.2
Quick LinksEntrez ID:2130; OMIM: 133450; Uniprot ID:EWS_HUMAN; ENSEMBL ID: ENSG00000182944; HGNC ID: 3508
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
266Phosphoserine; by PKC (By similarity).
300Asymmetric dimethylarginine.
302Asymmetric dimethylarginine.
304Asymmetric dimethylarginine.
309Asymmetric dimethylarginine.
314Asymmetric dimethylarginine.
317Asymmetric dimethylarginine.
321Asymmetric dimethylarginine.
455Asymmetric dimethylarginine.
464Asymmetric dimethylarginine.
471Omega-N-methylarginine; alternate.
471Asymmetric dimethylarginine; alternate.
490Asymmetric dimethylarginine; by PRMT8.
494Asymmetric dimethylarginine.
500Asymmetric dimethylarginine.
503Asymmetric dimethylarginine.
506Asymmetric dimethylarginine.
563Asymmetric dimethylarginine.
565Asymmetric dimethylarginine.
572Omega-N-methylarginine; alternate; by
572Asymmetric dimethylarginine; alternate;
575Asymmetric dimethylarginine.
581Asymmetric dimethylarginine.
589Asymmetric dimethylarginine.
592Asymmetric dimethylarginine.
596Asymmetric dimethylarginine; alternate;
596Omega-N-methylarginine; alternate; by
600Asymmetric dimethylarginine.
603Asymmetric dimethylarginine; by PRMT8.
607Asymmetric dimethylarginine; alternate;
607Omega-N-methylarginine; alternate; by
615Asymmetric dimethylarginine.
633Asymmetric dimethylarginine.
636Asymmetric dimethylarginine.
Location(AA) Modifications Resource
266Phosphoserine (by PKC) (By similarity).Swiss-Prot 53.0
266Phosphoserine (PKC
300Asymmetric dimethylarginine.Swiss-Prot 53.0
302Asymmetric dimethylarginine.Swiss-Prot 53.0
304Asymmetric dimethylarginine.Swiss-Prot 53.0
309Asymmetric dimethylarginine.Swiss-Prot 53.0
314Asymmetric dimethylarginine.Swiss-Prot 53.0
317Asymmetric dimethylarginine.Swiss-Prot 53.0
321Asymmetric dimethylarginine.Swiss-Prot 53.0
455Asymmetric dimethylarginine.Swiss-Prot 53.0
464Asymmetric dimethylarginine.Swiss-Prot 53.0
471Omega-N-methylarginine; alternate.Swiss-Prot 53.0
471Asymmetric dimethylarginine; alternate.Swiss-Prot 53.0
490Asymmetric dimethylarginine.Swiss-Prot 53.0
494Asymmetric dimethylarginine.Swiss-Prot 53.0
500Asymmetric dimethylarginine.Swiss-Prot 53.0
503Asymmetric dimethylarginine.Swiss-Prot 53.0
506Asymmetric dimethylarginine.Swiss-Prot 53.0
563Asymmetric dimethylarginine.Swiss-Prot 53.0
565Asymmetric dimethylarginine.Swiss-Prot 53.0
572Asymmetric dimethylarginine.Swiss-Prot 53.0
575Asymmetric dimethylarginine.Swiss-Prot 53.0
581Asymmetric dimethylarginine.Swiss-Prot 53.0
589Asymmetric dimethylarginine.Swiss-Prot 53.0
592Asymmetric dimethylarginine.Swiss-Prot 53.0
596Asymmetric dimethylarginine.Swiss-Prot 53.0
600Asymmetric dimethylarginine.Swiss-Prot 53.0
603Asymmetric dimethylarginine.Swiss-Prot 53.0
607Asymmetric dimethylarginine.Swiss-Prot 53.0
615Asymmetric dimethylarginine.Swiss-Prot 53.0
633Asymmetric dimethylarginine.Swiss-Prot 53.0
636Asymmetric dimethylarginine.Swiss-Prot 53.0
Location(AA) Modification Resource
26O-linkedHMM predict
32Phosphothreonine(PKC)HMM predict
52SulfotyrosineHMM predict
58O-linkedHMM predict
60O-linkedHMM predict
61Phosphotyrosine(SRC)HMM predict
64O-linkedHMM predict
75O-linkedHMM predict
77Phosphotyrosine(Abl)HMM predict
78O-linkedHMM predict
79O-linkedHMM predict
86Phosphotyrosine(Abl)HMM predict
86Phosphotyrosine(SRC)HMM predict
100O-linkedHMM predict
101O-linkedHMM predict
104O-linkedHMM predict
106O-linkedHMM predict
108O-linkedHMM predict
120Phosphothreonine(PKC)HMM predict
127SulfotyrosineHMM predict
146O-linkedHMM predict
149Phosphoserine(IKK)HMM predict
149O-linkedHMM predict
153Phosphoserine(IKK)HMM predict
154O-linkedHMM predict
158Phosphotyrosine(INSR)HMM predict
169N-linkedHMM predict
170Phosphotyrosine(INSR)HMM predict
170Phosphotyrosine(Abl)HMM predict
189O-linkedHMM predict
193O-linkedHMM predict
193O-linkedHMM predict
194O-linkedHMM predict
194O-linkedHMM predict
196Phosphoserine(IKK)HMM predict
197O-linkedHMM predict
201O-linkedHMM predict
209Phosphoserine(ATM)HMM predict
213O-linkedHMM predict
214Phosphotyrosine(Abl)HMM predict
238O-linkedHMM predict
239O-linkedHMM predict
248Phosphoserine(ATM)HMM predict
248O-linkedHMM predict
252Phosphoserine(ATM)HMM predict
255Phosphoserine(IKK)HMM predict
259Phosphoserine(CK1)HMM predict
274Phosphoserine(MAPK)HMM predict
291N-linkedHMM predict
295Phosphoserine(IKK)HMM predict
300MethylarginineHMM predict
302MethylarginineHMM predict
304MethylarginineHMM predict
314MethylarginineHMM predict
317MethylarginineHMM predict
321MethylarginineHMM predict
358Phosphoserine(CK1)HMM predict
364SulfotyrosineHMM predict
369N-linkedHMM predict
401SulfotyrosineHMM predict
417Phosphotyrosine(Syk)HMM predict
455MethylarginineHMM predict
471MethylarginineHMM predict
490MethylarginineHMM predict
494MethylarginineHMM predict
503MethylarginineHMM predict
505O-linkedHMM predict
505O-linkedHMM predict
506MethylarginineHMM predict
508N-linkedHMM predict
514N-linkedHMM predict
563MethylarginineHMM predict
565MethylarginineHMM predict
572MethylarginineHMM predict
575MethylarginineHMM predict
589MethylarginineHMM predict
592MethylarginineHMM predict
596MethylarginineHMM predict
607MethylarginineHMM predict
633MethylarginineHMM predict
636MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005243
  • Location:chr22 27994282-28026504
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28028751 28029241 490 2492
Gata2 K562GSE18868 28029535 28029958 423 3242
Rb shRbQuiescentGSE19898 28028201 28028424 223 1808
VDR GM10861-stimGSE22484 28024732 28028725 3993 224
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-145 hsa-mir-145 5 20382729
hsa-miR-145* hsa-mir-145 5 20382729
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17314 mRNA EWSR1 chr22 27988836 28021059 416 EST chr22 28019288 28020383Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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