AutismKB 2.0

Annotation Detail for USP30


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:USP30 ( FLJ40511,MGC10702 )
Gene Full Name: ubiquitin specific peptidase 30
Band: 12q24.11
Quick LinksEntrez ID:84749; OMIM: 612492; Uniprot ID:UBP30_HUMAN; ENSEMBL ID: ENSG00000135093; HGNC ID: 20065
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
115Phosphotyrosine(Syk)HMM predict
115Phosphotyrosine(Jak)HMM predict
133Phosphothreonine(CK2)HMM predict
171Phosphoserine(CK2)HMM predict
191Phosphoserine(CK1)HMM predict
210Phosphoserine(CDC2)HMM predict
286N-linkedHMM predict
322S-palmitoylHMM predict
335Phosphothreonine(CDC2)HMM predict
335Phosphothreonine(CDK)HMM predict
388Phosphothreonine(CDK)HMM predict
408Phosphoserine(MAPK)HMM predict
485Phosphoserine(PKG)HMM predict
485Phosphoserine(PKA)HMM predict
491Phosphoserine(CK1)HMM predict
510Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032663
  • Location:chr12 107974773-108008564
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP HelaGSE8489 107974373 107974674 301 250
P300 T30-glioblastomaGSE21026 107974258 107975149 891 70
Rb shRbSenescenceGSE19898 107958981 107959176 195 15695
TFAP2C MCF7GSE21234 107974255 107974827 572 233
p130 QuiescentGSE19898 107974341 107974506 165 350
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 107974640 107975299 659 0
CTCF G2GSE9613 107991591 107992309 718 0
CTCF G2GSE9613 108005079 108005225 146 0
ETS1 JurkatGSE17954 107974382 107975451 1069 0
FOXA1 MCF7GSE15244 107992057 107992413 356 0
GABP HelaGSE8489 107975048 107976297 1249 0
GABP k562GSE8489 107974373 107976297 1924 0
GABP k562GSE8489 107976987 107977379 392 0
H3K4me2 HCT116GSE10453 107975263 107976042 779 0
H3K4me3 colorectalcancer 107975188 107976297 1109 0
H3ac HepG2E 107975188 107976297 1109 0
H3ac HepG2E 107991809 107992497 688 0
LIN9 SGSE7516 107974640 107975226 586 0
Oct1 HelaGSE14283 107995508 107995579 71 0
Oct1 HelaGSE14283 107996202 107996279 77 0
RARG MCF7GSE15244 107975825 107976042 217 0
RNAII Tamoxifen-MCF7GSE14664 107985817 107985901 84 0
hScc1 BcellGSE12603 107974716 107975446 730 0
hScc1 G2GSE9613 107991662 107992337 675 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
6578 mRNA USP30 chr12 107953110 107986902 153 EST chr12 107953108 107954490Sense/Antisense (SA) 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