Table 4.
Summary of the Breakpoint-Mapping Results in the Normal Cohort
| Case | BCI Genomic Position | Size of the BCI (bps) | Gene Content within the BCI | Likelihood of Gene Disruption1 |
|---|---|---|---|---|
| 1A | chr2:42,992,855-43,173,584 | 180,729 | — | — |
| chr14:40,212,036-40,381,064 | 169,028 | — | — | |
| 1B | chr3:581,645-958,276 | 376,631 | — | — |
| chr9:11,302,383-11,764,217 | 461,834 | — | — | |
| 1C | chrX:148,867,102-149,050,276 | 183,174 | — | — |
| chr7:108,572,249-108,768,779 | 196,530 | — | — | |
| 1D | chr10:110,225,647-110,411,173 | 185,526 | — | — |
| chr18:37,199,353-37,363,565 | 164,212 | — | — | |
| 2A | chr4:187,776,924-187,818,201 | 41,277 | FAT | 100 |
| chr16:8,687,646-8,767,351 | 79,705 | ABAT | 100 | |
| 2B | chr1:206,420,427-206,463,044 | 42,617 | PLXNA2 | 100 |
| chr13:95,145,761-95,229,198 | 83,437 | DNAJC3 | 100 | |
| 2C | chr2:214,463,710-214,641,904 | 178,194 | SPAG16 | 100 |
| chr18:53,150,966-53,228,407 | 77,441 | ST8SIA3 | 15 | |
| 2D | chr2:138,955,571-139,047,575 | 92,004 | SPOPL | 75 |
| chr9:35,316,944-35,352,859 | 35,915 | UNC13B | 100 | |
| 2E | chr7:132,668,430-132,886,439 | 218,009 | EXOC4 | 100 |
| chr17:53,768,215-53,854,109 | 85,894 | RNF43 | 80 | |
| 2F | chr8:42,400,367-42,558,693 | 158,326 | SLC20A2, C8orf40 | 80 |
| chr15:71,562,896-71,677,866 | 114,970 | NPTN, LOC283677 | 100 | |
| 2G | chr1:101,729,637-101,888,180 | 158,543 | — | — |
| chr13:91,284,473-91,451,991 | 167,518 | GPC5 | 100 | |
| 2H | chr11:8,789,238-8,828,410 | 39,172 | ST5 | 70-100 |
| chr21: satellite stalk | nd | nd | nd | |
| 2I | chr2:36,974,205-36,984,164 | 9,959 | STRN | 100 |
| chr7:11,125,470-11,131,360 | 5,890 | PHF14 | 100 | |
| 2J | chr11:37,799,191-37,800,372 | 1,181 | — | — |
| chr17:12,739,251-12,759,331 | 20,080 | QRICH2 | 100 | |
| 2K | chr7:24,352,315-24,556,482 | 204,167 | — | — |
| chr16:68,412,623-68,499,123 | 86,500 | WWP2 | 100 | |
| 2L | chr8:100,008,198-100,013,461 | 5,263 | STK3 | 0-100 |
| chr16:59,138187-59,146,748 | 8,561 | — | — | |
| 2M | chr16:82,997,304-83,005,803 | 8,499 | ATP2C2 | 100 |
| chr18:42,902,560-42,915,062 | 12,502 | HDHD2 | 100 | |
| 2N | chr5:38,450,546-38,489,171 | 38,625 | EGFLAM | 100 |
| chr18:16,935,079-16,977,780 | 42,701 | ROCK1 | 25 | |
| 2O | chr1:235,542,200-235,725,748 | 183,548 | RYR2 | 100 |
| chr11:98,312,650-98,487,722 | 175,072 | CNTN5 | 0-50 | |
| 2P | chr3:25,187,406-25,225,486 | 38,080 | — | — |
| chr10:71,325,230-71,369,369 | 44,139 | COL13A1 | 100 | |
| 3A | chr4:125,648,232-125,829,198 | 180,966 | ANKRD50 | 15 |
| chr6:7,324,263-7,409,496 | 85,233 | CAGE1, RIOK1 | 45 | |
| 3B | chr8:6,719,131-7,053,466 | 334,335 | DEFB1, DEFA6, DEFA4, DEFA1, DEFA3, DEFA5 | 10 |
| chr12:7,987,953-8,310,582 | 322,629 | Q9UCR6, FOXJ2, C3AR, NECAP1, CLEC4A, Q9BZV8, ZNF705A, Q4G0H1, FAM90A1 | 25-75 | |
| 3C | chr6:119,215,818-119,302,998 | 87,180 | C6orf61, ASF1, MCM9 | 40-65 |
| chr9:14,904,963-15,184,142 | 279,179 | C9orf52 | 10 | |
| 3D | chr2:26,218,578-26,257,187 | 38,609 | FAM59B | 20 |
| chr4:48,429,074-48,516,206 | 87,132 | FRYL | 55 | |
| 3E | chrX:57,142,101-57,184,980 | 42,879 | SPIN2B, SPIN2A | 10 |
| chr22:19,026,823-19,108,026 | 81,203 | USP41, ZNF74 | 35-75 | |
| 3F | chr11:115,668,958-115,830,806 | 161,848 | — | — |
| chr15:48,315,253-48,399,500 | 84,247 | HDC, GABPB2 | 75 | |
| 3G | chr2:200,490,832-200,529,742 | 38,910 | FLJ38973, FLJ37953 | 95 |
| chr6:6,601,851-6,706,437 | 104,586 | — | — | |
| 3H | chr6:40,838,172-40,840,190 | 2,018 | — | — |
| chr22:30,870,135-30,908,432 | 38,297 | LOC150297 | 25 | |
| 3I | chr1:223,565,344-223,691,038 | 125,694 | LBR | 20 |
| chr19:13,999,383-14,039,028 | 39,645 | RLN3, IL27RA | 60 | |
| 3J | chr9:6,427,961-6,601,726 | 173,765 | UHRF2, GLDC | 85 |
| chr20:23,000,436-23,041,115 | 40,679 | CD93 | 15 | |
| 3K | chr2:27,620,439-27,812,447 | 192,008 | C2orf16, ZNF512, CCDC121, XAB1, SUPT7L, SLC4A1AP | 65 |
BCI denotes breakpoint-containing interval.
nd denotes not determined.
1
The probability of gene disruption (as a percentage) was calculated as the physical size of a given gene in relation to the size of the breakpoint-containing interval. Two estimates are given in the cases in which gene-mapping discrepancies were found between the Ensembl and the UCSC genome browsers (these are due to the use of different algorithms for gene annotation).