AutismKB 2.0

Annotation Detail for KIAA0753


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Basic Information Top
Gene Symbol:KIAA0753 ( MGC130040,MGC130041 )
Gene Full Name: KIAA0753
Band: 17p13.1
Quick LinksEntrez ID:9851; OMIM: NA; Uniprot ID:K0753_HUMAN; ENSEMBL ID: ENSG00000198920; HGNC ID: 29110
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
124Phosphoserine(ATM)HMM predict
149Phosphoserine(CK1)HMM predict
149Phosphoserine(PKG)HMM predict
151Phosphoserine(IKK)HMM predict
193O-linkedHMM predict
193O-linkedHMM predict
209N-linkedHMM predict
344Phosphoserine(IKK)HMM predict
379Phosphoserine(CDC2)HMM predict
409Phosphoserine(CDK)HMM predict
409Phosphoserine(CDC2)HMM predict
427O-linkedHMM predict
427Phosphothreonine(PKC)HMM predict
508Phosphothreonine(PKA)HMM predict
526Phosphoserine(ATM)HMM predict
526Phosphoserine(PKG)HMM predict
530Phosphoserine(IKK)HMM predict
561N-linkedHMM predict
563O-linkedHMM predict
563O-linkedHMM predict
564O-linkedHMM predict
564Phosphoserine(IKK)HMM predict
564Phosphoserine(CDC2)HMM predict
564Phosphoserine(MAPK)HMM predict
568O-linkedHMM predict
568Phosphoserine(CDK)HMM predict
580Phosphoserine(CDC2)HMM predict
699N-linkedHMM predict
700Phosphoserine(CK1)HMM predict
705N-linkedHMM predict
716O-linkedHMM predict
747Phosphoserine(CK1)HMM predict
826Phosphoserine(ATM)HMM predict
826Phosphoserine(CDC2)HMM predict
859Phosphoserine(ATM)HMM predict
880Phosphoserine(ATM)HMM predict
898Phosphoserine(PKG)HMM predict
929Phosphoserine(CK2)HMM predict
931Phosphoserine(CK1)HMM predict
959Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014804
  • Location:chr17 6422374-6484715
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 6484116 6485463 1347 74
p130 QuiescentGSE19898 6484285 6485240 955 47
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 6418937 6419131 194 3341
TFAP2C MCF7GSE21234 6411528 6411955 427 10633
p130 SenescentGSE19898 6419187 6419633 446 2965
p63 keratinocytesGSE17611 6411267 6412213 946 10635
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 6482013 6484491 2478 0
NRSF JurkatGSE13047 6480719 6481440 721 0
Oct1 HelaGSE14283 6428931 6428960 29 0
Oct1 HelaGSE14283 6449530 6449559 29 0
TFAP2C MCF7GSE21234 6484283 6484667 384 0
hScc1 BcellGSE12603 6481739 6482278 539 0
hScc1 BcellGSE12603 6483176 6483384 208 0
hScc1 BcellGSE12603 6484085 6484620 535 0
p130 shRbQuiescentGSE19898 6484236 6484723 487 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