AutismKB 2.0

Annotation Detail for SBF1


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Basic Information Top
Gene Symbol:SBF1 ( DKFZp761D0422,MGC99700,MTMR5 )
Gene Full Name: SET binding factor 1
Band: 22q13.33
Quick LinksEntrez ID:6305; OMIM: 603560; Uniprot ID:MTMR5_HUMAN; ENSEMBL ID: ENSG00000100241; HGNC ID: 10542
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1137Phosphothreonine.
1749Phosphothreonine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
20Phosphoserine(CK1)HMM predict
20O-linkedHMM predict
92Phosphoserine(IKK)HMM predict
117Phosphoserine(CDC2)HMM predict
117O-linkedHMM predict
119O-linkedHMM predict
124O-linkedHMM predict
280Phosphothreonine(MAPK)HMM predict
329Phosphoserine(ATM)HMM predict
333Phosphoserine(IKK)HMM predict
354O-linkedHMM predict
355O-linkedHMM predict
355O-linkedHMM predict
538Phosphothreonine(PKC)HMM predict
538Phosphothreonine(PKA)HMM predict
541O-linkedHMM predict
541O-linkedHMM predict
637Phosphoserine(CK1)HMM predict
716Phosphoserine(ATM)HMM predict
722Phosphoserine(CK1)HMM predict
794Phosphoserine(IKK)HMM predict
799Phosphoserine(IKK)HMM predict
962Phosphothreonine(PKC)HMM predict
968Phosphoserine(PKG)HMM predict
1001Phosphoserine(CK1)HMM predict
1001Phosphoserine(CK2)HMM predict
1033Phosphothreonine(MAPK)HMM predict
1033Phosphothreonine(CDC2)HMM predict
1033Phosphothreonine(CDK)HMM predict
1041Phosphothreonine(PKC)HMM predict
1050Phosphothreonine(CDK)HMM predict
1094Phosphoserine(CK2)HMM predict
1094Phosphoserine(CK1)HMM predict
1096Phosphoserine(CK2)HMM predict
1102O-linkedHMM predict
1105Phosphothreonine(CDK)HMM predict
1105Phosphothreonine(MAPK)HMM predict
1153Phosphoserine(CDC2)HMM predict
1228Phosphoserine(CDK)HMM predict
1228Phosphoserine(CDC2)HMM predict
1228Phosphoserine(ATM)HMM predict
1232Phosphoserine(ATM)HMM predict
1237Phosphoserine(CK1)HMM predict
1237Phosphoserine(CK2)HMM predict
1238Phosphoserine(CK1)HMM predict
1283Phosphothreonine(PKC)HMM predict
1284O-linkedHMM predict
1383Phosphoserine(IKK)HMM predict
1504Phosphoserine(ATM)HMM predict
1529Phosphotyrosine(Syk)HMM predict
1529Phosphotyrosine(EGFR)HMM predict
1584Phosphoserine(IKK)HMM predict
1585N-linkedHMM predict
1588N-linkedHMM predict
1690MethylarginineHMM predict
1692Phosphothreonine(MAPK)HMM predict
1692Phosphothreonine(CDK)HMM predict
1695O-linkedHMM predict
1731Phosphoserine(IKK)HMM predict
1731Phosphoserine(CK1)HMM predict
1733Phosphoserine(CK1)HMM predict
1734O-linkedHMM predict
1735O-linkedHMM predict
1745Phosphoserine(PKG)HMM predict
1746Phosphothreonine(PKA)HMM predict
1747Phosphoserine(PKA)HMM predict
1750Phosphotyrosine(Abl)HMM predict
1760N-linkedHMM predict
1794SulfotyrosineHMM predict
1818Phosphothreonine(MAPK)HMM predict
1820O-linkedHMM predict
1826Phosphothreonine(PKC)HMM predict
1837Phosphothreonine(PKC)HMM predict
1851SerineHMM predict
1856ValineHMM 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