The exon number is based on the LRG numbering,
as recommended for clinical reporting.The genomic coordinates of HG19 and
Locus Reference Genomic (LRG)
and the CDS coordinates of the Titin meta-transcript for exon 48 are displayed below.
HG19 Genomic |
HG38 Genomic |
Locus Reference Genomic |
Meta-Transcript |
Start | End |
Start | End |
Start | End |
Start | End |
179,616,766 |
179,610,047 |
178,752,039 |
178,745,320 |
|
| |
|
179,616,766 * |
179,610,312 * |
|
|
|
|
* Coordinates for protein-coding part of the exon.
Exon 48 occurs in the following Titin transcripts (the number indicates the exon rank of exon 48 in each transcript).
META | N2BA | N2B | N2A | NOVEX-1 | NOVEX-2 | NOVEX-3 |
- |
- |
- |
- |
- |
- |
46 |
PSI: 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.
Symmetry: This exon is assymmetric, i.e. the length of the exon is not a multiple of three and therefore removal of it will 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).
The following TTN truncating variants affecting this exon have been described in major published studies
(click on the study name for more details):
Study | Cohort | Patient ID | Variant (CDS) | Variant (protein) | Variant Type |
---|
STM 2015 | DCM-PRO | 12FB00047 | c.13022C>G | p.Ser4341X | nonsense |
STM 2015 | DCM-ES | 20JL01558 | c.14470_14471insCACACTCCATA | p.R4824fs | frameshift |
STM 2015 | WHI | SRR363549 | c.16516G>T | p.Glu5506* | nonsense |
STM 2015 | WHI | SRR444813 | c.16516G>T | p.Glu5506* | nonsense |
STM 2015 | WHI | SRR485694 | c.16516G>T | p.Glu5506* | nonsense |
STM 2015 | WHI | SRR373048 | c.16529delT | p.Val5510fs | frameshift |
STM 2015 | FHS | 14608 | c.15305_15305delC | p.T5102fs | frameshift |
STM 2015 | FHS | 35 | c.10443_10443delA | p.K3481fs | frameshift |
STM 2015 | FHS | 21984 | c.13660_13661insA | p.I4554fs | frameshift |
STM 2015 | FHS | 13496 | c.13705G>T | p.E4569* | nonsense |
STM 2015 | FHS | 21368 | c.13939_13939delG | p.E4647fs | frameshift |
STM 2015 | JHS | J133254 | c.13410_13411insA | p.K4470fs | frameshift |
Size of Exon: 6720 bases
Ensembl ID:
ENSE00001339816
AATTATTCTCTGAGGGGGAATCTGAACATTCAGAAAGGGATACACGTGACGCCTTTTCAGATTCTGAAGACATAGACCACAAATCCATGGCTGCTAAAAGATATGCAAGTAGAATATCAT
CTACAAGCTCCTGGCCTGAATATTTTAAGCCTTCTTTTACCCAGAAACTTACATTTAAATATGTTTTAGAGGGTGAACCGGTTGTTTTTACATGTAGATTAATTGCCTGTCCAACTCCAG
AAATGACTTGGTTTCATAACAATCGGCCCATCCCAACAGGTCTTCGTCGGATTATAAAAGCTGAGAGTGATTTACACCATCACTCTTCCAGCTTAGAGATTAAAAGGGTCCAAGACAGAG
ATTCTGGAAGTTATAGGTTACTAGCAATTAATAGTGAAGGGTCTGCAGAATCAACTGCATCATTGCTTGTTATCCAAAAAGGGCAAGATGAGAAATATTTAGAATTTCTGAAAAGAGCAG
AACGGACACATGAAAATGTGGAGGCTTTAGTTGAAAGGGGAGAAGATAGGATAAAGGTTGACCTGAGGTTTACTGGCTCTCCCTTTAACAAAAAACAAGATGTGGAACAAAAGGGAATGA
TGAGAACTATACATTTTAAGACAATGAGTTCTGCCAAGAAAACAGATTACATGTATGATGAAGAATATTTAGAAAGTAAATCTGACATAAGAGGTTGGCTTAATGTAGGTGAAAGTTTCC
TGGACAAGGAGACCAAAGTGAAGTTGCAACGTTTAAGGGAGGCTAGAAAAACATTAATGGAGAAAAAGAAATTATCTCTTTTAGATACGTCTTCTGAAATAAGCTCAAGAACTTTGAGAA
GTGAAGCTAGTGATAAAGATATTCTGTTCTCTAGAGAGGACATGAAAATCAGATCTATGTCTGATCTAGCTGAAAGTTATAAGGTAGATCATTCAGCTGAGAGTATTGTGCAAAATCCAC
ATGCCCTTTCTAATCAAATGGATCAAAATATAGAATCTGAGGAACTTCCCACAAGCTTTCAAACTATTGTTGATGAAGAAATTTTCCAGACTGAAATAAGAATGAGCCAAGAAGCACTGG
TAAAGGAAAGTCTACCAAAAGACCATTTATATGGTGAAATTCTAGTAAATGAAAATACCCAAGCAAGAGGACAGCTGGAAGAAATTATGGCCAATACTACAATTGGAGAGTCATCCACAT
ATATCACTAATGTATGTGAGAAGGAGGAAGTATATGAGACTCCTGAAAATGTGTCTCAAGCTATTACACCACATGCCAGCGAATCTTTTGGTACACTTGTAAATGTTGAAGAAAGTGAAG
AAATAGCTAGTGAAAGAATAAAAAAGGATGATTTGAGAGAATTACAACTCTCTGCTTCTACACGAATTGATGAATTCAAAACCGAACAGAAGGAAGAAAACATGAGATTTTTTGAAAATT
CTTTTCGAAAACGCCCACAACGTTGCCCACCTTCATTTCTTCAAGAAATTGAATCTCAAGAAGTTTATGAAGGTGACAGTTGTAATTTTGTGTGTCATTTTCAAGGATATCCTCAACCTA
TAGTGACGTGGTATAACAATGACATGCCAATCCCACGTAATCAAAACTTTATCATTCATTCGTTGGAAAACTATTCAATATTAACTCTTTCATCTGTTCATCATCAGAATGAAGGTTCTA
TTACTTGTGTGCTATTTAACCAATATGGAACAGTAAAAACAACCAGTATGCTTAAAGTGAAAGCAAAACAAAAACATGATGTCAAAGCACATAAAGTCCCAGTGTTCCATGACTACTTGG
ATGAGGAAGAAGAGTTAGCATTGGTGTTTGACCAAGCAAAAGGCGCCCATCCATCTATGAGTCAAGAGGGCCAAACAAATCTTCATTTGTTAAAAACTAACCCACCAGTTCCTCCCTCTG
GAGACACAGAATTGCTTTCCTTTCCTGTAGAAATTCAGGTAACAGCAGCTACTCCTATCCCAGAACAGGATAAAGAGTCTAAAGAAGTGTTTCAAACTGAGGAGCTGGAACCTAAAGCAA
TGCCTCAAGATCAAGTTACTCAATCACCAAAACACAGATTTGTATTTTTGTCTGATATTACTAATGAACCACCAAAAATGTTACAAGAAATGCCAAAGCATGCCAGGTGTAGAGAAGGGG
ATTCCATCATTCTTGAATGTTTAATATCTGGTGAGCCCCAGCCAGTTGTAACATGGTTTCAAAATGGAGTCCTTTTAAAGCAGAACCAGAAGTTTCAGTTTGAAGAAGTTAATTGTAGCC
ACCAATTATATATTAAGGATGTTAATTCTCAAGATTCTGGAAAATATAAATGTGTTGCTGAAAACAATTCAGGGGCAGTTGAAAGTGTTTCAGATCTAACAGTGGAGCCTGTCACTTATA
GAGAAAATAGTCAATTCGAAAATATTGGTGAAATTTATGGAAAATATTCCAGAGATCAGCAACTGCAAGACCAGGGAGAATCTGTAAGGGCACATTTTTATGATTATCCAGCTGGTCCCT
TTACTCCCTGGACAAATGTAAAAGAATATTCAGTAAGGGACTATTTTCAAAGCCTTGAGACTATTGAGCAAATAGACCAGAAAGAGCAGGTGCGTTGCATACCTTCTAGAGAAAAAATTC
CCAGATTTGTGCATGGTGCTTCAAGAACCATAAAAATCAGCAAGCCCATCAGGGCTGAATTCATACAATGTCAGGCTGAAGGGAAAGAGAGACATGTAAGTGAAAAATCAAAGCTGCACC
AAGCAGAGGGTACTGTTTATCCATTTGTTGATGATTTCAGTGATGTCACTATTAAGAAAGAAATAAGAAATAATTTTGGAAAACTTGGTAGATCAGAAAAGGAAAATGTACAAGAATGTG
CCCAAAGTGACTATTTACCAAATATTCACTCTGAGAGAATTTCTGACAGTTACAATACAAAAGATTCATCTGCCATTGTATATGAAGAATCCCTTGGTGAAGAGATACACTACCCGGGGA
AAAAGGTGAAGCATAGAATTATCGAATTTGAAAAATTACATGTAGAAAAAGGAGTTCTAGAAAAAAGACCTACCAGAACATCAATTGTTAATCCTCCTCAAAAGAAGATTGATGACAAAG
CCTTTTCATTAAAGCAAAGAGAATCAAGATCAAGCAATCTAAATGCAAATATGTATCAGGCAGAGAAAATGTCTCCAAATACTGAATCAGATTCATCTAACATTGCAATAAATTTAAAGC
TGCTTTCCTCTCAAACTCATAAAGAATTTGACGCACAAGAAAGGGAACAACAGGAAAAAATAAGTCTTATAGATAAACCTGCAATTTCTAAAAGAGCTGAACATGAATCACCTATTACAT
TTGACTTAAAGCAGTTTCACACTCAAATAAAACACACAGATGTGAAATTCCAAGAATTAGATAGTGGTCAACCAGAAGAAGCTTATTTTAAAATCCAACATCCTGCTGACACTGAGAACA
TTGTATTTGATCTAAAACAAATGTATTCTCATATAGGAGATCCAGCTCTGGAGTTCCAAGGGCAAGAAACTAGGGAACAGCAGGAAATACATTATAAAGAAAAAATTCCTAGCCCTGAAA
CGTTACAACCTGACACACACAATATCTCTAAAAGTGTGCAAAATAATGTATTTGCCAGTCAAGAAATTTCTTCCAGTCAAGAGCTTTCAAATAGAACTATGGTGGAGAAAAGTAGTATTG
ATGAAAATTCCATTTCTTTAGAAAAAGAAGTCCGACATGTACAGGAACAAAACTTAGACATTTTAAAAACTGATCTTTCTCTTAAATCCTTTTCTGAAGAAATCTATAGTGAATCATGTG
CCCTACTTCCAACCTCATCTGCAGATATAGAAGAAACTGATCTTTCTGAGAAAAGTTGTCCTCTAGAAAATGGAGGCAGAAGTTCCATCTCACATTTGAAAAAAGCAGCAAGTGAGGAAA
AGCCTTTAGGGGTTGGTGAAATGGAAGAAGAATGCACTCTAGAACCAGAGTTGGCAGCATTTCCAAAGCAGGATGGTGGGACACAGGAATATACAGATGCCACTTTGGAAGACCACAGAG
GTGATGTTCAGGAAGCTGACACACTCCATAGACAGCTCTCCCTGAGTCAGTGCTTCCCACTCTTGATGACTGAAGAACAACAGAATCCAGGTGAACAAATAAGTACAAACATTCATGCCT
CTGGAGAAGAAAAATGTTATGAAGAAGTTCAAGTTCAGAATGAAGCTTCTTTCTCCACTTTAGAAGGAGAAATGATAGAAACTAGTTTTTCTCAAAATATTCCTAAATTAGATGAGGCAC
ATACCACTGAGGCAGCAGAATCTGAGACCTCCCTAACACAATATTTACTTGCTGCTGGAAAGCGTGAGGTTCCTGAAACTAAAGACACCAGAGACCAGGCAAAGCTTGTCCAGAGTGAAT
CAATCACTTCAATGGAGGTGGAAGAAGTAACTTTCAACACTGTGTATGAATACTACAACCAGAAACAGGAATCACTAGGTCGTCCACTTTCTCCTGAGTCTGACATTTCCATTGGTGTGG
GAAGTACAACCAGTGAAGAAATATCTGAGTTAGATCAGTTTTATACCCCACCATCATCTGTTGAATATTTTGAATCTCCAAAGTCCCCTGACTTATATTTTAATCCTTCAGATATAACTA
AACAATCCTCAATACATTCAGGAGGTGAGACAGTTGAAAGATATTCCACACCTTTAGGGGAAGTTGCTGAAAGATATTCAACACCTTCCGAAGGTGAGGTAGGAGAAAGATACTCCACAC
CCCCAGGGGAGACACTAGAGAGATACTCCACACCTCCAGGAGAGACTCTAGAGAGATACTCCACACCCCCAGGAGAGACTCTAGAGAGATATTCCACACCCCCAGGAGAGACTCTGGAGA
GATACTCCACACCCCCAGGAGAGACTCTAGAGCGATATTCCACACCCCCAGGGGAGGCACTAGAGAGATATTCTATTCCTACTGGAGGACCAAACCCCACTGGTACTTTTAAAACATATC
CATCAAAAATAGAAAGGGAAGACGGTACACCAAATGAGCATTTCTACACACCTACAGAAGAGAGGGGTTCAGCTTATGAAATATGGCGTTCCGATTCATTTGGTACACCCAATGAAGCCA
TTGAGCCAAAAGACAATGAAATGCCTCCATCTTTTATTGAACCTCTGACCAAAAGGAAGGTATATGAAAACACAACACTAGGCTTCATTGTTGAAGTTGAAGGTCTTCCAGTTCCTGGTG
TGAAATGGTATCGAAATAAATCTTTACTAGAGCCAGATGAAAGAATCAAAATGGAAAGAGTGGGTAATGTGTGTTCACTGGAAATTTCTAACATTCAAAAAGGAGAAGGGGGAGAGTACA
TGTGTCATGCTGTAAACATCATAGGGGAAGCAAAGAGCTTTGCAAATGTAGACATAATGCCCCAGGAAGAAAGAGTGGTGGCACTACCACCTCCAGTAACACATCAGCATGTCATGGAGT
TTGATTTGGAACACACCACATCATCAAGAACACCTTCTCCTCAAGAAATTGTCCTGGAAGTTGAATTAAGTGAAAAAGACGTTAAAGAATTTGAGAAGCAGGTGAAAATAGTGACAGTTC
CCGAATTTACTCCTGACCATAAAAGTATGATTGTGAGTCTAGATGTTCTTCCATTTAATTTTGTAGATCCAAATATGGATTCAAGGGAGGGAGAAGACAAAGAACTAAAAATTGATTTAG
AAGTATTTGAAATGCCTCCTCGCTTTATAATGCCTATTTGTGATTTTAAAATTCCAGAAAATTCAGATGCTGTATTCAAATGTTCAGTCATAGGGATCCCGACTCCCGAAGTTAAGTGGT
ATAAAGAATATATGTGTATTGAGCCAGATAATATTAAATACGTGATTAGCGAGGAGAAGGGAAGTCACACTCTTAAAATTCGAAATGTCTGTCTTTCTGATAGTGCAACATACAGGTGCA
GAGCTGTGAATTGTGTAGGAGAGGCTATCTGTCGGGGATTCCTCACCATGGGAGATTCTGAAATATTTGCTGTGATAGCAAAGAAAAGCAAAGTGACTTTAAGCAGTTTAATGGAAGAAT
TGGTCTTAAAGAGCAACTACACAGACAGTTTTTTTGAATTTCAGGTGGTGGAAGGGCCTCCCAGGTTTATCAAAGGTATTTCTGACTGTTATGCACCAATAGGTACAGCAGCATATTTTC
AGTGCTTAGTTCGTGGCTCTCCAAGACCCACGGTTTACTGGTACAAAGATGGAAAATTAGTCCAAGGAAGAAGGTTCACTGTTGAGGAAAGTGGCACAGGGTTCCATAACCTGTTTATAA
CAAGCTTAGTAAAGAGTGATGAAGGAGAGTATAGGTGTGTAGCTACAAACAAATCAGGAATGGCTGAGAGCTTTGCAGCACTCACCTTAACTTAAAATGTAATGTTTTAGTGCCTCAGTA
ATTATTAGCATTGATCTGAGTGCTTTCATATTTTCCAAATTATGTGGATCTAATAAACTTCCAAACAGGTCCACCATATTTGAATTCATTACCTTGGAGACCCCTAAAGAAATAATCTCT
ATGTAGAAATCTCATCTTTGTAATACATGTAAATATTTTGTTATCTGAACTGTGGAATCATCACTTGTGTCAATCATGCTGTGTAATATCAAACACAATTAAATCTCTCCTTGGCTACCT
AATTGTTTGTACTTCTATTTACCCTCATGCCTCCTCCACAAAGTGTTTCAGTGGAATGGACTCTCTTTTAGCAGATAAACCATATATGCAAAAGTACAATGTAAAAGTGGAGACCATATC
AGATGACCACGCAGACAAATTGGTAAGGGCAAATCTCTCTGCTCCCATTCTAAGTTATTTTTGGAATTTTAACCCCTTTGCATCCAAACTCATGTTTATTTACTTTGACTTAGAATAGGC
AAAACAAACAACAAAAACCAGCTTCTCCCAATTGGCAACTAACTCTATAATCTGTTTGACATTTCAATCTTAATATATTAACTTCATCTCTTTTAAAAATGTTTTCGTTATTAATATTCC
TCTTCATAAGTGCTTTAATTCTCACTGGCTTCAAGGGACCAATTGTGCTCTTTGTGGGCAGGGTTCACCTAGACATTTGCAAAATAAGCAAATAGATCTTTCCACTTTTGGAGATACCTT
ATTTTTCTCCATTTTTGAGATGACATCAAGTGTAAAATGCAGCAATAATTTAGTATTGGCCTGGGGAAAAAAGGGAAACTATCATATTGTGTTTACATATAGATTTTAAAACTGTATTCT
GATTTCAGAATCTTTAAAATTTAAAAAAAGGTGGGATATTTTTAGAATTGAGACAATATGGTAATTTGTATTTCAGATTATATATAAATAACAAGATAACAAGCTTTCCTATCAGTTTCA
CTGAATTTCATCTTTAAAACGAATATAGCTTAATAAGCATTCAATTTTTATTGTGATGTTTATGTTTCTAAAGTAACTCTTTAATTTTGTCTTTTAAAATTAAAATAACAGTAAATTAAC
ATACTCCTTAATATCTTACCTATATACTAATGTGGACCCAAGTCTTCTCATATAAGACTCGACAAATATAAAAAA
ATGC = coding sequence, ATGC = non-coding sequence