Titin Variants in Dilated Cardiomyopathy
TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies
Titin - Exon 327
Details for Exon 327 of the Titin gene - Sequence Coordinates, Associated Transcripts, Functional Data, Truncating Variants and Sequence.
Coordinates
The genomic coordinates of HG19 and Locus Reference Genomic (LRG) and the CDS coordinates of the Titin meta-transcript for exon 327 are displayed below.
| HG19 Genomic | HG38 Genomic | Locus Reference Genomic | Meta-Transcript | ||||
|---|---|---|---|---|---|---|---|
| Start | End | Start | End | Start | End | Start | End |
| 179,441,143 | 179,424,038 | 178,576,416 | 178,559,311 | 259,387 | 276,492 | 69,716 | 86,821 |
Transcripts
Exon 327 occurs in the following Titin transcripts (the number indicates the exon rank of exon 327 in each transcript).
| META | N2BA | N2B | N2A | NOVEX-1 | NOVEX-2 | NOVEX-3 |
| 326 | 276 | 154 | 275 | 155 | 155 | - |
Functional Data
Region: This exon occurs in the A-band region of the titin protein.
Domains: This exon codes for the following domain(s) - Fibronectin type-III 57, Ig-like 114, Fibronectin type-III 58/59, Ig-like 115, Fibronectin type-III 60/61/62, Ig-like 116, Fibronectin type-III 63/64/65, Ig-like 117, Fibronectin type-III 66/67, Ig-like 118, Fibronectin type-III 68/69/70, Ig-like 119, Fibronectin type-III 71/72/73, Ig-like 120, Fibronectin type-III 74/75, Ig-like 121, Fibronectin type-III 76/77/78, Ig-like 122, Fibronectin type-III 79/80/81, Ig-like 123, Fibronectin type-III 82/83, Ig-like 124, Fibronectin type-III 84/85/86, Ig-like 125, Fibronectin type-III 87/88/89, Ig-like 126, Fibronectin type-III 90/91, Ig-like 127, Fibronectin type-III 92/93/94, Ig-like 128, Fibronectin type-III 96/96/97, Ig-like 129, Fibronectin type-III 98.
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 95% in GTEx (LV tissue of 105 samples from Genotype-Tissue Expression project). (See Ref. 1 for details)
Symmetry: This exon is symmetric, i.e. the length of the exon is a multiple of three and therefore removal of it will not alter the reading frame.
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).