AutismKB 2.0

Annotation Detail for TCAP


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Basic Information Top
Gene Symbol:TCAP ( CMD1N,LGMD2G,T-cap,TELE,telethonin )
Gene Full Name: titin-cap (telethonin)
Band: 17q12
Quick LinksEntrez ID:8557; OMIM: 604488; Uniprot ID:TELT_HUMAN; ENSEMBL ID: ENSG00000173991; HGNC ID: 11610
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
81Phosphotyrosine(INSR)HMM predict
102Phosphothreonine(CK2)HMM predict
155Phosphoserine(PKA)HMM predict
155Phosphoserine(CK1)HMM predict
157Phosphoserine(PKA)HMM predict
161Phosphoserine(CK1)HMM predict
161Phosphoserine(ATM)HMM predict
161Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003673
  • Location:chr17 35075124-35076331
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 35076471 35077036 565 422
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RNAII Tamoxifen-MCF7GSE14664 35075877 35075913 36 0
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