According to RefSeq (NM_003283),
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration.
$> astalavista -t astafunk --tref --gtf tnnt1.gtf --genome ~/example/genome/ > reference_tx.fasta |
$> hmmsearch --domtblout reference_file ~/Databases/Pfam/Pfam-A.hmm reference_tx.fasta |
or skip these commands and use directly the whole database Pfam-A.hmm as parameter for the option [--hmm] |
astalavista -t astafunk --genome ~/example/genome/ --gtf tnnt1.gtf --reference reference_file --hmm database.hmm |
AstaFunk identifies six complete alternative events between the eight alternative transcripts of the gene TNNT1 (in the paper we present, just for an example, only two events). See the standard output:
| # | chr | gene_cluster_name | name_hmm | acc | description | bitscore | start_seq | end_seq | start_genomic | end_genomic | first_source | last_sink | start_model | end_model | length_model | sequence | variants |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 35.2309670601 | 1 | 102 | -55147129 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000588426.5 | ENST00000588426.5 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 98.6465479489 | 85 | 205 | -55141239 | -55134200 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000588981.5 | ENST00000588981.5 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 139.0575466987 | 1 | 135 | -55141281 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000587465.6 | ENST00000587465.6 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 139.0575466987 | 1 | 135 | -55141281 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000585321.6 | ENST00000585321.6 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 139.0575466987 | 1 | 135 | -55141281 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000536926.5 | ENST00000536926.5 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 158.3576407894 | 69 | 205 | -55141287 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000291901.12 | ENST00000291901.12 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 158.3576407894 | 58 | 194 | -55141287 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000356783.9 | ENST00000356783.9 |
| EHIT | chr19 | ENST00000291901.12,ENST00000356783.9,ENST00000587465.6, ENST00000587758.5,ENST00000585321.6,ENST00000588981.5, ENST00000536926.5,ENST00000588426.5 | Troponin | PF00992.17 | Troponin | 158.3576407894 | 58 | 194 | -55141287 | -55134152 | -55147168 | -55147168 | 1 | 134 | 134 | ENST00000587758.5 | ENST00000587758.5 |