AutismKB 2.0

Annotation Detail for UCHL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UCHL1 ( PARK5,PGP 9.5,PGP9.5,PGP95,Uch-L1 )
Gene Full Name: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Band: 4p13
Quick LinksEntrez ID:7345; OMIM: 191342; Uniprot ID:UCHL1_HUMAN; ENSEMBL ID: ENSG00000154277; HGNC ID: 12513
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
38Phosphoserine(CK1)HMM predict
41Phosphoserine(IKK)HMM predict
221LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004181
  • Location:chr4 40953685-40965201
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40942903 40943342 439 10563
H3K27me3 colorectalcancer 40953049 40953870 821 226
Oct1 H2O2-HelaGSE14283 40938167 40938196 29 15504
P300 T30-glioblastomaGSE21026 40952973 40954301 1328 49
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40977903 40978100 197 12800
CTCF CD4SISSRdata 40977903 40978100 197 12800
CTCF HelaGSE12889 40977903 40978110 207 12805
CTCF G2GSE9613 40977621 40978191 570 12705
Oct1 H2O2-HelaGSE14283 40979923 40979960 37 14740
Oct1 HelaGSE14283 40968244 40968280 36 3061
Oct1 HelaGSE14283 40979923 40979959 36 14740
P300 T0-glioblastomaGSE21026 40983649 40984626 977 18936
P300 T30-glioblastomaGSE21026 40983504 40984181 677 18641
hScc1 BcellGSE12603 40977621 40978268 647 12743
hScc1 CdLSGSE12603 40977656 40978488 832 12871
hScc1 G2GSE9613 40977621 40978377 756 12798
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40953936 40954671 735 0
CTCF G2GSE9613 40955511 40955862 351 0
H3K27me3 colorectalcancer 40954671 40955788 1117 0
Myc hESGSE17917 40953508 40953900 392 0
Oct1 H2O2-HelaGSE14283 40963767 40963805 38 0
Oct1 HelaGSE14283 40963765 40963804 39 0
hScc1 BcellGSE12603 40954201 40954538 337 0
hScc1 G2GSE9613 40953575 40954707 1132 0
hScc1 G2GSE9613 40955642 40956007 365 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