AutismKB 2.0

Annotation Detail for PSMD8


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Basic Information Top
Gene Symbol:PSMD8 ( HIP6,HYPF,MGC1660,Nin1p,Rpn12,S14,p31 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
Band: 19q13.2
Quick LinksEntrez ID:5714; OMIM: NA; Uniprot ID:PSMD8_HUMAN; ENSEMBL ID: ENSG00000099341; HGNC ID: 9566
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
13Phosphoserine(CDK)HMM predict
15N-linkedHMM predict
202Phosphothreonine(CDC2)HMM predict
207Phosphothreonine(PKA)HMM predict
222Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002812
  • Location:chr19 43557060-43566302
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
LIN9 SGSE7516 43556633 43557028 395 230
P300 T0-glioblastomaGSE21026 43556538 43557483 945 50
TFAP2C MCF7GSE21234 43556674 43557289 615 79
p130 shRbQuiescentGSE19898 43556778 43557178 400 83
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 43556441 43557949 1508 0
H3K4me3 colorectalcancer 43557484 43558273 789 0
H3ac HepG2E 43557399 43559524 2125 0
NFkBII GM15510GSE19485 43556429 43558067 1638 0
P300 T30-glioblastomaGSE21026 43556427 43557947 1520 0
PHF8 HeLaGSE20725 43556584 43557876 1292 0
PHF8 Hs68plusFBSGSE20725 43556489 43558671 2182 0
Rb GrowingGSE19898 43557401 43557586 185 0
Rb SenescentGSE19898 43556892 43557499 607 0
Rb shRbSenescenceGSE19898 43557000 43557177 177 0
TAF HelaGSE8489 43557361 43558418 1057 0
TAF k562GSE8489 43556633 43559429 2796 0
TAFII hESGSE17917 43556800 43557435 635 0
TFAP2C MCF7GSE21234 43565453 43566133 680 0
p130 QuiescentGSE19898 43557188 43557456 268 0
p130 QuiescentGSE19898 43557473 43557699 226 0
p130 SenescentGSE19898 43556690 43557556 866 0
p130 shRbQuiescentGSE19898 43557278 43557805 527 0
p130 shRbQuiescentGSE19898 43559231 43559766 535 0
p130 shRbSenescentGSE19898 43556687 43557599 912 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