AutismKB 2.0

Annotation Detail for AIM1L


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Basic Information Top
Gene Symbol:AIM1L ( CRYBG2,DKFZp434L1713,FLJ10040,FLJ38020 )
Gene Full Name: absent in melanoma 1-like
Band: 1p36.11
Quick LinksEntrez ID:55057; OMIM: NA; Uniprot ID:AIM1L_HUMAN; ENSEMBL ID: ENSG00000176092; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
5Phosphothreonine(MAPK)HMM predict
91Phosphotyrosine(EGFR)HMM predict
94O-linkedHMM predict
99Phosphothreonine(PKC)HMM predict
100O-linkedHMM predict
153Phosphoserine(ATM)HMM predict
153PhosphoserineHMM predict
273Phosphotyrosine(INSR)HMM predict
290N-linkedHMM predict
396Phosphoserine(ATM)HMM predict
548Phosphoserine(CDC2)HMM predict
567Phosphoserine(IKK)HMM 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