AutismKB 2.0

Annotation Detail for UFD1L


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Basic Information Top
Gene Symbol:UFD1L ( UFD1 )
Gene Full Name: ubiquitin fusion degradation 1 like (yeast)
Band: 22q11.21
Quick LinksEntrez ID:7353; OMIM: 601754; Uniprot ID:UFD1_HUMAN; ENSEMBL ID: ENSG00000070010; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
245Phosphoserine.
247Phosphoserine.
299Phosphoserine.
Location(AA) Modifications Resource
283Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
60N-linkedHMM predict
245Phosphoserine(CK1)HMM predict
246Phosphothreonine(CK2)HMM predict
255Phosphotyrosine(Syk)HMM predict
281Phosphoserine(ATM)HMM predict
281Phosphoserine(CDC2)HMM predict
283Phosphoserine(CDK)HMM predict
283Phosphoserine(CDC2)HMM predict
326PhenylalanineHMM predict
327PhenylalanineHMM predict
328PhenylalanineHMM predict
329PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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