AutismKB 2.0

Annotation Detail for PPCS


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Basic Information Top
Gene Symbol:PPCS ( FLJ11838,MGC117357,MGC138220 )
Gene Full Name: phosphopantothenoylcysteine synthetase
Band: 1p34.2
Quick LinksEntrez ID:79717; OMIM: 609853; Uniprot ID:PPCS_HUMAN; ENSEMBL ID: ENSG00000127125; HGNC ID: 25686
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
185Phosphotyrosine(Jak)HMM predict
215Phosphoserine(CDC2)HMM predict
215Phosphoserine(MAPK)HMM predict
281Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024664
  • Location:chr1 42694759-42698671
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 42693828 42695688 1860 2
USF1 HepG2E 42693838 42695537 1699 72
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 42700799 42701917 1118 2687
Oct1 H2O2-HelaGSE14283 42715517 42715545 28 16860
P300 T30-glioblastomaGSE21026 42700886 42702047 1161 2795
p130 QuiescentGSE19898 42701077 42701588 511 2661
p130 SenescentGSE19898 42701079 42701577 498 2657
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 42695431 42695905 474 0
H3ac HepG2E 42695086 42695794 708 0
H3ac HepG2E 42696259 42697159 900 0
PHF8 293TGSE20725 42694333 42695548 1215 0
PHF8 HeLaGSE20725 42694104 42695595 1491 0
TAF HelaGSE8489 42696259 42696660 401 0
TAF k562GSE8489 42695351 42695905 554 0
TAF k562GSE8489 42696259 42696589 330 0
USF1 HepG2E 42696259 42696828 569 0
p130 QuiescentGSE19898 42694700 42695519 819 0
p130 SenescentGSE19898 42693971 42695706 1735 0
p130 shRbQuiescentGSE19898 42694918 42695461 543 0
p130 shRbSenescentGSE19898 42694932 42695409 477 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
672 mRNA FLJ11838 chr1 42591322 42595178 104 EST chr1 42571186 42592206Sense/Antisense (SA) pairs

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