AutismKB 2.0

Annotation Detail for CHML


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Basic Information Top
Gene Symbol:CHML ( FLJ10071,FLJ13361,REP2 )
Gene Full Name: choroideremia-like (Rab escort protein 2)
Band: 1q43
Quick LinksEntrez ID:1122; OMIM: 118825; Uniprot ID:RAE2_HUMAN; ENSEMBL ID: ENSG00000203668; HGNC ID: 1941
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
649Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
88Phosphothreonine(PKC)HMM predict
201Phosphoserine(CK1)HMM predict
204Phosphothreonine(PKC)HMM predict
261N-linkedHMM predict
314Phosphotyrosine(EGFR)HMM predict
325Phosphotyrosine(Syk)HMM predict
349Phosphoserine(IKK)HMM predict
358N-linkedHMM predict
362N-linkedHMM predict
440Phosphotyrosine(EGFR)HMM predict
506Phosphotyrosine(Jak)HMM predict
640Phosphoserine(CK1)HMM predict
640Phosphoserine(CK2)HMM predict
641Phosphoserine(CK2)HMM predict
641Phosphoserine(CK1)HMM predict
644Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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