AutismKB 2.0

Annotation Detail for PPP1R8


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Basic Information Top
Gene Symbol:PPP1R8 ( ARD-1,ARD1,NIPP-1,NIPP1,PRO2047 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 8
Band: 1p35.3
Quick LinksEntrez ID:5511; OMIM: 602636; Uniprot ID:PP1R8_HUMAN; ENSEMBL ID: ENSG00000117751; HGNC ID: 9296
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
199Phosphoserine (By similarity).
204Phosphoserine (By similarity).
209Nuclear localization signal 1.
240Nuclear localization signal 2.
264Phosphotyrosine; by LYN; in vitro.
335Phosphotyrosine (Probable).
Location(AA) Modifications Resource
161Phosphothreonine (CK2
178Phosphoserine (PKA
199Phosphoserine (By similarity).Swiss-Prot 53.0
199Phosphoserine (PKA
204Phosphoserine (By similarity).Swiss-Prot 53.0
204Phosphoserine (CK2
264Phosphotyrosine; by LYN; in vitro.Swiss-Prot 53.0
264Phosphotyrosine (Lyn)Phospho.ELM 6.0
335Phosphotyrosine (Probable).Swiss-Prot 53.0
335Phosphotyrosine (Lyn)Phospho.ELM 6.0
Location(AA) Modification Resource
89N-linkedHMM predict
125Phosphothreonine(PKC)HMM predict
132Phosphothreonine(PKC)HMM predict
165N-linkedHMM predict
170N-linkedHMM predict
199Phosphoserine(PKA)HMM predict
199Phosphoserine(PKG)HMM predict
272O-linkedHMM predict
276Phosphoserine(ATM)HMM predict
276Phosphoserine(CK1)HMM predict
335Phosphotyrosine(INSR)HMM predict
346Phosphothreonine(PKA)HMM predict
346Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014110
  • Location:chr1 28029879-28050769
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 28028878 28029267 389 807
TAF k562GSE8489 28028878 28029267 389 807
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28057206 28057414 208 6541
CTCF CD4SISSRdata 28057206 28057414 208 6541
CTCF HelaGSE12889 28057223 28057391 168 6538
TFAP2C MCF7GSE21234 28057114 28057646 532 6611
hScc1 BcellGSE12603 28057679 28058377 698 7259
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28029609 28030312 703 0
ETS1 JurkatGSE17954 28029387 28030574 1187 0
H3K4me3 colorectalcancer 28030348 28031173 825 0
H3ac HepG2E 28030111 28032131 2020 0
Oct1 H2O2-HelaGSE14283 28049942 28049970 28 0
P300 T30-glioblastomaGSE21026 28029390 28030553 1163 0
PHF8 HeLaGSE20725 28029369 28030579 1210 0
PHF8 Hs68plusFBSGSE20725 28029446 28030693 1247 0
TAF HelaGSE8489 28030469 28031543 1074 0
TAF k562GSE8489 28029609 28032834 3225 0
TAFII hESGSE17917 28029658 28030664 1006 0
hScc1 BcellGSE12603 28029822 28030469 647 0
p130 SenescentGSE19898 28029596 28030554 958 0
p130 shRbSenescentGSE19898 28029782 28030602 820 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