Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin - Exon 1

Details for Exon 1 of the Titin gene - Sequence Coordinates, Associated Transcripts, Functional Data, Truncating Variants and Sequence.

The exon number is based on the LRG numbering, as recommended for clinical reporting.

Coordinates

The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 1 are displayed below.

HG19 Genomic Locus Reference Genomic Meta-Transcript
StartEnd StartEnd StartEnd
179,672,150 179,671,939 28,380 28,591Non-coding exon

Transcripts

Exon 1 occurs in the following Titin transcripts (the number indicates the exon rank of exon 1 in each transcript).

METAN2BAN2BN2ANOVEX-1NOVEX-2NOVEX-3
1 1 1 1 1 1 1

Functional Data

PSI: The "proportion spliced-in" (an estimate of the percentage of TTN transcripts that incorporate this exon based on RNAseq data) is 100% in DCM (LV tissue of 84 end-stage patients) and 100% in GTEx (LV tissue of 105 samples from Genotype-Tissue Expression project). (See Ref. 1 for details)

References
1. A. M. Roberts, J. S. Ware, D. S. Herman et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci. Transl. Med. 7, 270ra6 (2015).

Truncating Variants

No TTN truncating variants affecting this exon have been described in major published studies.

Sequence

Size of Exon: 212 bases           Ensembl ID: ENSE00001465556

GAGCAGTCGTGCATTCCCAGCCTCGCCTCGGGTGTAGGGATTGCATAGAAAAGCAAAACTACACAGTCTTGACTGTGTAGTTTTGTTTTTAGGATTAGAGGCTCACCGATTCATGTCGGA
GATGGTCAGAAAAACCAACTCTCCATAGGACGTCGTTTCAGAAGCAACCTTGGGCTTAGTCCCACCCTTTTTAGGCACTCTTGAGAAATCAG


ATGC = coding sequence, ATGC = non-coding sequence