AutismKB 2.0

Annotation Detail for PNKP


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Basic Information Top
Gene Symbol:PNKP ( MCSZ,PNK )
Gene Full Name: polynucleotide kinase 3'-phosphatase
Band: 19q13.33
Quick LinksEntrez ID:11284; OMIM: 605610; Uniprot ID:PNKP_HUMAN; ENSEMBL ID: ENSG00000039650; HGNC ID: 9154
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
114Phosphoserine.
118Phosphothreonine.
122Phosphothreonine.
126Phosphoserine.
Location(AA) Modifications Resource
118Phosphothreonine.Swiss-Prot 53.0
118PhosphothreoninePhospho.ELM 6.0
122Phosphothreonine.Swiss-Prot 53.0
122PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
70N-linkedHMM predict
111Phosphothreonine(MAPK)HMM predict
111Phosphothreonine(CDC2)HMM predict
114Phosphoserine(ATM)HMM predict
114Phosphoserine(IKK)HMM predict
114O-linkedHMM predict
118PhosphothreonineHMM predict
118Phosphothreonine(CDK)HMM predict
118Phosphothreonine(MAPK)HMM predict
118Phosphothreonine(CDC2)HMM predict
122Phosphothreonine(MAPK)HMM predict
126Phosphoserine(ATM)HMM predict
347Phosphoserine(IKK)HMM predict
364Phosphoserine(MAPK)HMM predict
391Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007254
  • Location:chr19 55056273-55062629
  • 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 55058016 55058200 184 0
CTCF CD4SISSRdata 55058016 55058200 184 0
CTCF G2GSE9613 55057736 55058354 618 0
ETS1 JurkatGSE17954 55061685 55063083 1398 0
GABP k562GSE8489 55061368 55062910 1542 0
H3ac HepG2E 55061368 55062081 713 0
PHF8 HeLaGSE20725 55061833 55062994 1161 0
Rb QuiescentGSE19898 55061879 55062413 534 0
Rb SenescentGSE19898 55061933 55062493 560 0
hScc1 BcellGSE12603 55057772 55058238 466 0
hScc1 BcellGSE12603 55062117 55062628 511 0
p130 shRbSenescentGSE19898 55061884 55062583 699 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


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