Reference identifiers for seven titin transcripts, including the inferred-complete meta-transcript (manually annotated by the Havana Group) that is the recommended transcript for variant reporting. Links are provided to each reference source. The complete exon structure of these transcripts is shown in the Titin Exon table below.
Transcript | Description | Length (aa) | No. exons | Ensembl transcript | Ensembl protein | Refseq transcript | Refseq protein | LRG | Uniprot |
---|---|---|---|---|---|---|---|---|---|
Meta | Inferred complete meta-transcript | 35991 | 363 | ENST00000589042 | ENSP00000467141 | NM_001267550.1 | NP_001254479 | 391_t1 | |
N2BA | Principle cardiac long isoform | 34350 | 313 | ENST00000591111 | ENSP00000465570 | NM_001256850.1 | NP_001243779 | Q8WZ42-1 | |
N2B | Principle cardiac short isoform | 26926 | 191 | ENST00000460472 | ENSP00000434586 | NM_003319.4 | NP_003310.4 | Q8WZ42-3 | |
N2A | Soleus / skeletal long isoform | 33423 | 312 | ENST00000342992 | ENSP00000343764 | NM_133378.4 | NP_596869.4 | Q8WZ42-4 | |
Novex-1 | Minor cardiac short isoform | 27051 | 192 | ENST00000359218 | ENSP00000352154 | NM_133432.3 | NP_597676.3 | Q8WZ42-8 | |
Novex-2 | Minor cardiac short isoform | 27118 | 192 | ENST00000342175 | ENSP00000340554 | NM_133437.3 | NP_597681.3 | Q8WZ42-7 | |
Novex-3 | Minor small cardiac isoform | 5604 | 46 | ENST00000360870 | ENSP00000354117 | NM_133379.3 | NP_596870.2 | 391_t2 | Q8WZ42-6 |
This table contains details for each of the 364 exons which comprise the Titin gene, including genomic and meta transcript coordinates, associated titin transcripts, region and domain structure and more. For more details on individual exons, click on a selected row.
Domains: | Ig-like domain | Z-repeat | PEVK domain | Fibronectin type III domain | Protein kinase |
1 The exon number is the LRG numbering (also adopted by the LOVD) - this is recommended for clinical reporting. All exons are numbered sequentially along the chromosome. Please note this is not the same as the RefSeq numbering.
2 PSI - percentage spliced in: a measure of splicing derived from RNAseq, this is an estimate of the percentage of TTN transcripts that incorporate a given exon. 100% implies a constitutively expressed exon. The data shown represent exon usage in the human left ventricle, derived from patients with DCM.
3 Symmetry: S = symmetric (the exon length in base pairs is a multiple of 3), A = asymmetric.
Phase - the phase indicates the position of an intron relative to the amino sequence: 0 = between codons,
1 = between the 1st and 2nd base, 2 = between the 2nd and 3rd base.
The phase shown in this table is the end phase for each exon, i.e. the phase of the intron after the exon.
4 As exon 48 of the Novex-3 transcript is a 3' exon, the PSI is unreliable. An alternative method comparing ratio of reads from exons 48 & 364 suggests novex-3 represents 9.4% of transcripts in the DCM cohort and 7.3% of transcripts for GTEx.
5 The Hg38 start and Hg38 positions have been generated by lifting over Hg19 start and Hg19 end positions using the UCSC liftOver software with the appropriate chain files from liftOver