AutismKB 2.0

Annotation Detail for KIAA0196


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Basic Information Top
Gene Symbol:KIAA0196 ( MGC111053,SPG8 )
Gene Full Name: KIAA0196
Band: 8q24.13
Quick LinksEntrez ID:9897; OMIM: 610657; Uniprot ID:STRUM_HUMAN; ENSEMBL ID: ENSG00000164961; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
917Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
181Phosphoserine(CK2)HMM predict
195Phosphotyrosine(Jak)HMM predict
197Phosphoserine(ATM)HMM predict
205PhosphoserineHMM predict
207Phosphotyrosine(EGFR)HMM predict
235Phosphotyrosine(Jak)HMM predict
235Phosphotyrosine(EGFR)HMM predict
235Phosphotyrosine(Syk)HMM predict
315N-linkedHMM predict
316N-linkedHMM predict
328Phosphoserine(PKC)HMM predict
332Phosphothreonine(PKC)HMM predict
464Phosphothreonine(PKC)HMM predict
610Phosphoserine(CK1)HMM predict
612Phosphoserine(ATM)HMM predict
761Phosphotyrosine(INSR)HMM predict
862Phosphoserine(CAMK2)HMM predict
1068Phosphothreonine(PKA)HMM predict
1112Phosphoserine(IKK)HMM predict
1142ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014846
  • Location:chr8 126105690-126165401
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 126151205 126152723 1518 0
ER E2-MCF7GSE14664 126153845 126153926 81 0
ER MCF7GSE19013 126150824 126151997 1173 0
FOXA1 MCF7GSE15244 126147946 126148410 464 0
FOXA1 MCF7GSE15244 126150852 126152144 1292 0
GATA3 MCF7GSE15244 126150881 126152039 1158 0
IGF1R DFBGSE23792 126133275 126133892 617 0
Oct1 HelaGSE14283 126148874 126148903 29 0
P300 T30-glioblastomaGSE21026 126151362 126152976 1614 0
RARA MCF7GSE15244 126125496 126126030 534 0
RARA MCF7GSE15244 126150852 126152144 1292 0
RARA MCF7GSE15244 126152508 126153095 587 0
RARG MCF7GSE15244 126148048 126148410 362 0
RARG MCF7GSE15244 126150852 126152144 1292 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