AutismKB 2.0

Annotation Detail for MYSM1


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Basic Information Top
Gene Symbol:MYSM1 ( 2A-DUB,2ADUB,DKFZp779J1554,DKFZp779J1721,KIAA1915,RP4-592A1.1 )
Gene Full Name: Myb-like, SWIRM and MPN domains 1
Band: 1p32.1
Quick LinksEntrez ID:114803; OMIM: 612176; Uniprot ID:MYSM1_HUMAN; ENSEMBL ID: ENSG00000162601; HGNC ID: 29401
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
218Phosphoserine.
234Phosphoserine.
236Phosphothreonine.
267Phosphoserine.
669JAMM motif.
778LXXLL motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
24Phosphoserine(IKK)HMM predict
37Phosphotyrosine(Jak)HMM predict
58Phosphoserine(CK2)HMM predict
74Phosphotyrosine(Jak)HMM predict
75Phosphotyrosine(Syk)HMM predict
75Phosphotyrosine(Jak)HMM predict
80Phosphoserine(ATM)HMM predict
141Phosphothreonine(PKA)HMM predict
175Phosphothreonine(CDC2)HMM predict
218Phosphoserine(CK2)HMM predict
233Phosphoserine(CK1)HMM predict
236Phosphothreonine(CDC2)HMM predict
240N-linkedHMM predict
265Phosphoserine(CK2)HMM predict
290Phosphoserine(CK2)HMM predict
290Phosphoserine(CK1)HMM predict
340Phosphoserine(CDK)HMM predict
405Phosphothreonine(CDC2)HMM predict
405Phosphothreonine(MAPK)HMM predict
429N-linkedHMM predict
468Phosphotyrosine(Abl)HMM predict
468Phosphotyrosine(Syk)HMM predict
473Phosphothreonine(PKC)HMM predict
500Phosphothreonine(PKC)HMM predict
623Phosphoserine(CK1)HMM predict
636Phosphoserine(ATM)HMM predict
636Phosphoserine(IKK)HMM predict
638PhosphothreonineHMM predict
664N-linkedHMM predict
716Phosphoserine(ATM)HMM predict
757Phosphoserine(IKK)HMM predict
821N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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