AutismKB 2.0

Annotation Detail for PNKD


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Basic Information Top
Gene Symbol:PNKD ( BRP17,DKFZp564N1362,DYT8,FPD1,KIAA1184,KIPP1184,MGC31943,MR-1,MR1,PDC,TAHCCP2 )
Gene Full Name: paroxysmal nonkinesigenic dyskinesia
Band: 2q35
Quick LinksEntrez ID:25953; OMIM: 609023; Uniprot ID:PNKD_HUMAN; ENSEMBL ID: ENSG00000127838; HGNC ID: 9153
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001077399
  • Location:chr2 218843358-218845911
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 218842689 218843991 1302 19
Rb GrowingGSE19898 218843258 218843412 154 24
Rb QuiescentGSE19898 218843247 218843402 155 34
Rb SenescentGSE19898 218843000 218843708 708 5
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 218845638 218846019 381 0
CTCF CD4SISSRdata 218845638 218846019 381 0
CTCF G2GSE9613 218844050 218844404 354 0
CTCF G2GSE9613 218845182 218846031 849 0
H3K4me3 colorectalcancer 218844404 218844798 394 0
H3ac HepG2E 218843775 218845225 1450 0
hScc1 BcellGSE12603 218845182 218846031 849 0
hScc1 CdLSGSE12603 218845448 218846172 724 0
hScc1 G2GSE9613 218842720 218844294 1574 0
hScc1 G2GSE9613 218845307 218846068 761 0
p130 QuiescentGSE19898 218843285 218843445 160 0
p130 SenescentGSE19898 218843554 218844010 456 0
p130 shRbQuiescentGSE19898 218843261 218843643 382 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