AutismKB 2.0

Annotation Detail for UCHL3


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Basic Information Top
Gene Symbol:UCHL3 ( UCH-L3 )
Gene Full Name: ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Band: 13q22.2
Quick LinksEntrez ID:7347; OMIM: 603090; Uniprot ID:UCHL3_HUMAN; ENSEMBL ID: ENSG00000118939; HGNC ID: 12515
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75Phosphoserine.
130Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
130Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006002
  • Location:chr13 75021927-75078066
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 75021283 75021709 426 432
CTCF CD4SISSRdata 75021283 75021709 426 432
CTCF JurkatGSE12889 75021379 75021673 294 402
CTCF G2GSE9613 75020930 75022234 1304 346
KLF4 hESGSE17917 75021185 75021616 431 527
Myc K562GSE19551 75021220 75022139 919 248
PHF8 HeLaGSE20725 75020930 75022563 1633 181
hScc1 BcellGSE12603 75021112 75022274 1162 235
hScc1 CdLSGSE12603 75021112 75022416 1304 164
hScc1 G2GSE9613 75021174 75022136 962 273
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 75022208 75022990 782 0
H3ac HepG2E 75021926 75022868 942 0
P300 T30-glioblastomaGSE21026 75021185 75022873 1688 0
Rb QuiescentGSE19898 75031649 75031770 121 0
USF2 HepG2E 75021618 75022666 1048 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