AutismKB 2.0

Annotation Detail for TCHH


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Basic Information Top
Gene Symbol:TCHH ( MGC157889,MGC157890,THH,THL,TRHY )
Gene Full Name: trichohyalin
Band: 1q21.3
Quick LinksEntrez ID:7062; OMIM: 190370; Uniprot ID:TRHY_HUMAN; ENSEMBL ID: ENSG00000159450; HGNC ID: 11791
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
251Phosphothreonine.
Location(AA) Modifications Resource
251Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
29Phosphothreonine(PKC)HMM predict
251Phosphothreonine(PKC)HMM predict
762Phosphoserine(PKG)HMM predict
803Phosphoserine(PKG)HMM predict
905Phosphothreonine(PKA)HMM predict
947Phosphotyrosine(EGFR)HMM predict
1007Phosphotyrosine(EGFR)HMM predict
1067Phosphotyrosine(SRC)HMM predict
1067Phosphotyrosine(EGFR)HMM predict
1087Phosphothreonine(PKC)HMM predict
1214Phosphoserine(ATM)HMM predict
1466Phosphoserine(ATM)HMM predict
1745Phosphoserine(ATM)HMM predict
1800Phosphotyrosine(Jak)HMM predict
1858Phosphoserine(ATM)HMM predict
1883Phosphoserine(CDC2)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