Table 1.
Representative exon boundaries identified by long-read sequencing.
| Start | End | Name | Length (bp) | Symmetric | Frequency | State | Position in a gene model or reported isoform |
|---|---|---|---|---|---|---|---|
| 123,779,335 | 123,779,396 | rex01 (Ex1-2) | 61 | No | Stable | Known | Yoshida et al., 1st exon (p10@TACC2 ) |
| 123,781,451 | 123,781,529 | rex02 (Ex2) | 78 | Yes | Stable | Known | Ref seq Gene NM_206862.3 2nd exon |
| 123,792,608 | 123,792,668 | rex03 (Ex2-3) | 60 | Yes | Rare | Known | Yoshida et al. short variant 4, 3rd exon; Ensemble ENST00000491540, 2nd exon |
| 123,794,962 | 123,795,075 | rex04 (Ex2-3) | 113 | No | Rare | Novel | NA |
| 123,809,952 | 123,810,065 | rex05 (Ex3) | 113 | No | Stable | Known | Ref seq Gene NM_206862.3 3rd exon |
| 123,822,912 | 123,823,005 | rex06 (Ex3-4) | 93 | Yes | Rare | Novel | NA |
| 123,838,491 | 123,839,151 | rex07 (Ex3-4) | 660 | Yes | Rare | Partially known | Ensembl ENST00000498721, 4th exon |
| 123,842,161 | 123,847,474 | rex08 (Ex4) | 5313 | Yes | Variable | Known | Ref seq Gene NM_206862.3 4th exon |
| 123,847,992 | 123,848,106 | rex09 (Ex5) | 114 | Yes | Variable | Known | Ref seq Gene NM_206862.3 5th exon |
| 123,892,123 | 123,892,249 | rex10 (Ex6) | 126 | Yes | Variable | Known | Ref seq Gene NM_206862.3 6th exon |
| 123,903,086 | 123,903,221 | rex11 (Ex7) | 135 | Yes | Variable | Known | Ref seq Gene NM_206862.3 7th exon |
| 123,943,555 | 123,943,720 | rex12 (Ex-8) | 165 | Yes | Rare | Novel | NA |
| 123,954,554 | 123,954,691 | rex13 (Ex8) | 137 | No | Stable | Known | Ref seq Gene NM_206862.3 8th exon |
| 123,962,081 | 123,962,141 | rex14 (Ex8-9) | 60 | Yes | Rare | Partially known | SIB Gene, HTR001818.10.1839.19, 8th exon |
| 123,969,388 | 123,969,484 | rex15 (Ex8-9) | 96 | Yes | Rare | Known | Ref seq Gene NM_001291879.1 |
| 123,969,911 | 123,971,223 | rex16 (Ex9) | 1312 | No | Stable | Known | Ref seq Gene NM_206862.3 9th exon |
| 123,972,856 | 123,972,892 | rex17 (Ex9-10) | 36 | Yes | Rare | Known | Yoshida et al. long variant 6, 10th exon ; UCSC gene, variat 7, 4th exon |
| 123,974,905 | 123,974,966 | rex18 (Ex10) | 61 | No | Stable | Known | Ref seq Gene NM_206862.3 10th exon |
| 123,976,141 | 123,976,343 | rex19 (Ex11) | 202 | No | Stable | Known | Ref seq Gene NM_206862.3 11th exon |
| 123,984,240 | 123,984,302 | rex20 (Ex12) | 62 | No | Stable | Known | Ref seq Gene NM_206862.3 12th exon |
| 123,985,880 | 123,985,996 | rex21 (Ex13) | 116 | No | Stable | Known | Ref seq Gene NM_206862.3 13th exon |
| 123,987,351 | 123,987,523 | rex22 (Ex14) | 172 | NO | Stable | Known | Ref seq Gene NM_206862.3 14th exon |
| 123,988,860 | 123,989,001 | rex23 (Ex15) | 141 | Yes | Rare | Known | Ref seq Gene NM_206862.3 15th exon |
| 123,996,909 | 123,997,053 | rex24 (Ex17) | 144 | Yes | Stable | Known | Ref seq Gene NM_206862.3 17th exon |
| 123,997,475 | 123,997,552 | rex25 (Ex18) | 77 | No | Stable | Known | Ref seq Gene NM_206862.3 18th exon |
| 124,001,472 | 124,001,516 | rex26 (Ex19) | 44 | No | Stable | Known | Ref seq Gene NM_206862.3 19th exon |
| 124,008,157 | 124,008,318 | rex27 (Ex20) | 161 | No | Stable | Known | Ref seq Gene NM_206862.3 20th exon |
| 124,008,564 | 124,008,671 | rex28 (Ex21) | 107 | No | Stable | Known | Ref seq Gene NM_206862.3 21st exon |
| 124,009,058 | 124,009,089 | rex29 (Ex22) | 31 | No | Stable | Known | Ref seq Gene NM_206862.3 22nd exon |
Genomic coordinates (start, end) on chromosome 10 are based on GRCh37 human genome assembly (hg19). Exon names are prefixed by “rex” (e.g., rex01), with exon order in a previous study6 indicated in parentheses (e.g., Ex2 indicates the second exon, and Ex2-3 indicates an intron between the second and third exons). When the number of nucleotides in an exon is a multiple of 3, it is referred as symmetric and could be skipped without a change in the reading frame.