Table 2.
Deletion Intervals in FA Genes Determined by aCGH
Family ID | Number of Deletions | Gene | Chr | Deletion Start | Deletion End | BPs | Deleted Exons |
---|---|---|---|---|---|---|---|
1 | 1 | FANCA | 16 | 88,131,700 | 88,610,500 | 478,801 | 1–43 |
3 | 1 | FANCA | 16 | 88,184,848 | 88,336,349 | 151,502 | 38–43 |
5 | 1 | FANCA | 16 | 88,227,499 | 88,446,249 | 218,751 | 1–43 |
6 | 1 | FANCA | 16 | 88,235,249 | 88,351,749 | 116,501 | 31–43 |
9§ | 1 | FANCA | 16 | 88,281,756 | 88,827,254 | 545,499 | 1–43 |
12 | 2 HO | FANCA | 16 | 88,311,999 | 88,394,999 | 83,001 | 9–43 |
16 | 1 | FANCA | 16 | 88,330,849 | 88,500,000 | 169,152 | 1–43 |
20 | 1 | FANCA | 16 | 88,334,499 | 88,393,249 | 58,751 | 10–38 |
22 | 1 | FANCA | 16 | 88,338,249 | 88,470,249 | 132,001 | 1–36 |
41 | 1 | FANCA | 16 | 88,358,548 | 88,368,349 | 9,802 | 22–28 |
42 | 1 | FANCA | 16 | 88,358,574 | 88,359,274 | 701 | 28 |
43 | 1 | FANCA | 16 | 88,364,999 | 88,388,499 | 23,501 | 12–23 |
61 | 1 | FANCA | 16 | 88,383,499 | 88,474,299 | 90,801 | 1–14 |
62 | 1 | FANCA | 16 | 88,383,499 | 88,437,499 | 54,001 | 1–14 |
63_d1 | 2 HE | FANCA | 16 | 88,383,649 | 88,386,149 | 2,501 | 13–14 |
64 | 1 | FANCA | 16 | 88,386,749 | 88,401,249 | 14,501 | 7–11 |
65 | 1 | FANCA | 16 | 88,387,000 | 88,412,000 | 25,001 | 1–11 |
66 | 1 | FANCA | 16 | 88,387,749 | 88,432,749 | 45,001 | 1–11 |
69 | 1 | FANCA | 16 | 88,398,749 | 88,420,249 | 21,501 | 1–7 |
70 | 1 | FANCA | 16 | 88,398,749 | 88,425,749 | 27,001 | 1–7 |
72 | 1 | FANCA | 16 | 88,399,249 | 88,412,249 | 13,001 | 1–7 |
84 | 1 | FANCA | 16 | 88,403,105 | 88,410,000 | 6,896 | 2–5 |
85 | 1 | FANCA | 16 | 88,403,999 | 88,437,249 | 33,251 | 1–5 |
86 | 1 | FANCA | 16 | 88,404,000 | 88,405,000 | 1,001 | 4–5 |
88 | 1 | FANCA | 16 | 88,409,549 | 88,411,749 | 2,201 | 1–2 |
89 | 1 | FANCC | 9 | 96,935,249 | 96,937,749 | 2,501 | 8 |
96§ | 1 | FANCB | X | 14,331,665 | 14,872,323 | 540,659 | 1–10 |
97 | 1 | FANCD2 | 3 | 10,048,249 | 10,066,749 | 18,501 | 2–17 |
98 | 1 | FANCD2 | 3 | 10,066,800 | 10,071,613 | 4,813 | 18 |
This table excludes deletion intervals that were defined by cloning and sequencing, which are presented in Table 3.
denotes breakpoints for deletion determined by SNP array.
Families with two deleted alleles are indicated with 2 in “Number of Deletions” column.
HO = Homozygous
HE = Compound Heterozygous (and distinguished by “_d1” for deletion 1)
The deletion coordinates are according to the NCBI36/hg18 build.