AutismKB 2.0

Annotation Detail for UBQLN3


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Basic Information Top
Gene Symbol:UBQLN3 ( TUP-1 )
Gene Full Name: ubiquilin 3
Band: 11p15.4
Quick LinksEntrez ID:50613; OMIM: 605473; Uniprot ID:UBQL3_HUMAN; ENSEMBL ID: ENSG00000175520; HGNC ID: 12510
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
12O-linkedHMM predict
36Phosphoserine(CK1)HMM predict
75Phosphoserine(IKK)HMM predict
106O-linkedHMM predict
109O-linkedHMM predict
109O-linkedHMM predict
109O-linkedHMM predict
113O-linkedHMM predict
113Phosphoserine(CDC2)HMM predict
116Phosphoserine(IKK)HMM predict
282O-linkedHMM predict
285N-linkedHMM predict
287O-linkedHMM predict
288O-linkedHMM predict
368Phosphoserine(CK1)HMM predict
368Phosphoserine(ATM)HMM predict
370Phosphoserine(ATM)HMM predict
370Phosphoserine(IKK)HMM predict
376O-linkedHMM predict
383Phosphoserine(IKK)HMM predict
383O-linkedHMM predict
384O-linkedHMM predict
384O-linkedHMM predict
384Phosphoserine(CDK)HMM predict
384Phosphoserine(MAPK)HMM predict
384Phosphoserine(CDC2)HMM predict
387Phosphoserine(ATM)HMM predict
419N-linkedHMM predict
463Phosphoserine(CDK)HMM predict
463Phosphoserine(CDC2)HMM predict
465O-linkedHMM predict
479Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017481
  • Location:chr11 5485107-5487728
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 5482186 5483036 850 2497
H3K4me2 HCT116GSE10453 5483653 5483835 182 1364
TAF k562GSE8489 5481959 5483265 1306 2496
No data
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