AutismKB 2.0

Annotation Detail for UBE3A


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Basic Information Top
Gene Symbol:UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A )
Gene Full Name: ubiquitin protein ligase E3A
Band: 15q11.2
Quick LinksEntrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062; HGNC ID: 12496
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
218Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
16Phosphoserine(ATM)HMM predict
105N-linkedHMM predict
106N-linkedHMM predict
134Phosphotyrosine(Syk)HMM predict
134Phosphotyrosine(SRC)HMM predict
146Phosphotyrosine(INSR)HMM predict
174Phosphothreonine(CK2)HMM predict
207Phosphoserine(IKK)HMM predict
210Phosphoserine(CK1)HMM predict
218Phosphoserine(ATM)HMM predict
298Phosphoserine(MAPK)HMM predict
301Phosphotyrosine(INSR)HMM predict
556Phosphotyrosine(EGFR)HMM predict
602N-linkedHMM predict
647Phosphothreonine(PKC)HMM predict
742N-linkedHMM predict
776Phosphotyrosine(INSR)HMM predict
776SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_130838
  • Location:chr15 23133489-23201745
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 23126723 23126948 225 6654
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 23136893 23136960 67 0
Oct1 H2O2-HelaGSE14283 23151796 23151836 40 0
Oct1 HelaGSE14283 23151797 23151836 39 0
Rb GrowingGSE19898 23179913 23180083 170 0
TAF HelaGSE8489 23141374 23142165 791 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
8530 mRNA chr15 23062677 23134381 131 mRNA UBE3A chr15 23133488 23204888Sense/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


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