AutismKB 2.0

Annotation Detail for KPTN


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Basic Information Top
Gene Symbol:KPTN ( 2E4 )
Gene Full Name: kaptin (actin binding protein)
Band: 19q13.32
Quick LinksEntrez ID:11133; OMIM: NA; Uniprot ID:KPTN_HUMAN; ENSEMBL ID: ENSG00000118162; HGNC ID: 6404
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
18Phosphoserine(PKA)HMM predict
24Phosphoserine(PKA)HMM predict
87N-linkedHMM predict
89Phosphoserine(CDK)HMM predict
89Phosphoserine(CDC2)HMM predict
196N-linkedHMM predict
217Phosphoserine(PKG)HMM predict
264Phosphothreonine(PKC)HMM predict
273Phosphotyrosine(Jak)HMM predict
274Phosphoserine(CK1)HMM predict
363Phosphoserine(CK1)HMM predict
364Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007059
  • Location:chr19 52670211-52679332
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb QuiescentGSE19898 52679341 52679446 105 61
p130 shRbSenescentGSE19898 52679389 52679763 374 244
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 52668472 52668792 320 1580
NRSF mAbJurkat 52669499 52670845 1346 40
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52678835 52679249 414 0
CTCF CD4SISSRdata 52678835 52679249 414 0
CTCF G2GSE9613 52678694 52679393 699 0
ETS1 JurkatGSE17954 52678561 52679886 1325 0
NRSF mAbJurkat 52671914 52672845 931 0
P300 T0-glioblastomaGSE21026 52678873 52679754 881 0
P300 T30-glioblastomaGSE21026 52678568 52679943 1375 0
PHF8 293TGSE20725 52678544 52679918 1374 0
hScc1 BcellGSE12603 52678582 52679393 811 0
hScc1 CdLSGSE12603 52678520 52679393 873 0
p130 SenescentGSE19898 52678897 52679689 792 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