AutismKB 2.0

Annotation Detail for DISC1


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Basic Information Top
Gene Symbol:DISC1 ( C1orf136,FLJ13381,FLJ21640,FLJ25311,FLJ41105,KIAA0457,SCZD9 )
Gene Full Name: disrupted in schizophrenia 1
Band: 1q42.2
Quick LinksEntrez ID:27185; OMIM: 605210; Uniprot ID:DISC1_HUMAN; ENSEMBL ID: ENSG00000162946; HGNC ID: 2888
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
24Phosphoserine(PKA)HMM predict
79Phosphoserine(CK1)HMM predict
97Phosphoserine(CDC2)HMM predict
100O-linkedHMM predict
102Phosphoserine(IKK)HMM predict
107Phosphothreonine(PKC)HMM predict
109O-linkedHMM predict
110O-linkedHMM predict
155Phosphothreonine(PKC)HMM predict
179O-linkedHMM predict
185N-linkedHMM predict
198PhosphothreonineHMM predict
198Phosphothreonine(MAPK)HMM predict
202O-linkedHMM predict
207Phosphothreonine(PKC)HMM predict
241Phosphoserine(IKK)HMM predict
251Phosphoserine(CAMK2)HMM predict
283N-linkedHMM predict
285Phosphoserine(PKA)HMM predict
293Phosphoserine(IKK)HMM predict
301Phosphoserine(IKK)HMM predict
308Phosphoserine(IKK)HMM predict
318O-linkedHMM predict
320Phosphoserine(ATM)HMM predict
370Phosphotyrosine(Syk)HMM predict
370Phosphotyrosine(INSR)HMM predict
370Phosphotyrosine(EGFR)HMM predict
370SulfotyrosineHMM predict
421Phosphothreonine(PKA)HMM predict
425Phosphoserine(IKK)HMM predict
431Phosphothreonine(CDC2)HMM predict
431Phosphothreonine(MAPK)HMM predict
542Phosphothreonine(PKC)HMM predict
613Phosphoserine(CK1)HMM predict
646Phosphotyrosine(EGFR)HMM predict
660Phosphotyrosine(EGFR)HMM predict
713Phosphoserine(PKG)HMM predict
744Phosphothreonine(MAPK)HMM predict
802Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001012957
  • Location:chr1 229829183-230243638
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 230069039 230069424 385 0
CTCF CD4SISSRdata 230069039 230069424 385 0
CTCF G2GSE9613 230069071 230069423 352 0
CTCF G2GSE9613 230085835 230086198 363 0
CTCF G2GSE9613 230134314 230134603 289 0
Myc K562GSE19551 230134289 230134505 216 0
hScc1 BcellGSE12603 230069030 230069595 565 0
hScc1 BcellGSE12603 230090614 230090791 177 0
hScc1 CdLSGSE12603 230069030 230069595 565 0
hScc1 CdLSGSE12603 230216433 230216760 327 0
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