AutismKB 2.0

Annotation Detail for TTN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TTN ( CMD1G,CMH9,CMPD4,DKFZp451N061,EOMFC,FLJ26020,FLJ26409,FLJ32040,FLJ34413,FLJ39564,FLJ43066,HMERF,LGMD2J,TMD )
Gene Full Name: titin
Band: 2q31.2
Quick LinksEntrez ID:7273; OMIM: 188840; Uniprot ID:Q4ZG20_HUMAN; ENSEMBL ID: ENSG00000155657; HGNC ID: 12403
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_133379
  • Location:chr2 179318291-179380394
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 179386249 179386419 170 5940
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 179377734 179377971 237 0
CTCF CD4SISSRdata 179377734 179377971 237 0
CTCF G2GSE9613 179377503 179377939 436 0
Oct1 H2O2-HelaGSE14283 179344058 179344092 34 0
Oct1 HelaGSE14283 179358017 179358050 33 0
hScc1 G2GSE9613 179372424 179372657 233 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15342 mRNA NEB chr2 179314697 179314953 256 mRNA TTN chr2 179216226 179497655Sense/Antisense (SA) pairs

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