AutismKB 2.0

Annotation Detail for PCTP


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Basic Information Top
Gene Symbol:PCTP ( PC-TP,STARD2 )
Gene Full Name: phosphatidylcholine transfer protein
Band: 17q22
Quick LinksEntrez ID:58488; OMIM: 606055; Uniprot ID:PPCT_HUMAN; ENSEMBL ID: ENSG00000141179; HGNC ID: 8752
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7Phosphoserine(CK2)HMM predict
114SulfotyrosineHMM predict
139Phosphoserine(CAMK2)HMM predict
139Phosphoserine(IKK)HMM predict
207S-farnesylHMM predict
209AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021213
  • Location:chr17 51183448-51209732
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 51175356 51175899 543 7821
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 51216112 51216140 28 6394
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 51184059 51184569 510 0
H3ac HepG2E 51183810 51184613 803 0
PHF8 293TGSE20725 51183128 51184072 944 0
PHF8 HeLaGSE20725 51182957 51184271 1314 0
PHF8 Hs68minusFBSGSE20725 51183100 51184142 1042 0
PHF8 Hs68plusFBSGSE20725 51183262 51184328 1066 0
RARA MCF7GSE15244 51183582 51184613 1031 0
RARG MCF7GSE15244 51183772 51184569 797 0
TAF k562GSE8489 51184093 51184569 476 0
hScc1 BcellGSE12603 51202537 51203031 494 0
hScc1 CdLSGSE12603 51202607 51203031 424 0
hScc1 G2GSE9613 51202295 51202991 696 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