AutismKB 2.0

Annotation Detail for PPPDE1


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Basic Information Top
Gene Symbol:PPPDE1 ( C1orf121,FAM152A,FLJ21998,PNAS-4 )
Gene Full Name: PPPDE peptidase domain containing 1
Band: 1q44
Quick LinksEntrez ID:51029; OMIM: NA; Uniprot ID:PPDE1_HUMAN; ENSEMBL ID: ENSG00000121644; HGNC ID:
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_016076
  • Location:chr1 242882974-242938954
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242882706 242883006 300 119
ETS1 JurkatGSE17954 242882138 242883796 1658 8
P300 T30-glioblastomaGSE21026 242882093 242883787 1694 35
PHF8 HeLaGSE20725 242882049 242883679 1630 111
Rb SenescentGSE19898 242882195 242883115 920 320
TAF k562GSE8489 242881686 242882455 769 904
TFAP2C MCF7GSE21234 242882275 242882885 610 395
p130 shRbSenescentGSE19898 242882234 242883056 822 330
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 242949549 242949987 438 10814
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242924430 242924646 216 0
H3K4me2 HCT116GSE10453 242883786 242884583 797 0
H3K4me3 colorectalcancer 242883565 242884271 706 0
H3ac HepG2E 242883523 242886253 2730 0
H3ac HepG2E 242924353 242924646 293 0
PHF8 Hs68plusFBSGSE20725 242882619 242884271 1652 0
TAF k562GSE8489 242883750 242885783 2033 0
hScc1 BcellGSE12603 242882598 242883786 1188 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
2607 mRNA PNAS-4 chr1 241142414 241198373 1577 EST chr1 241183419 241184996 Non-exonic Bidirectional (NOB) 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