Table 5.
Chr | Cytoregion | Recurrence | Recurrence including mosaicism | CN state | Gene | Minimal common size (kbp) | Genic region: total (T) Exonic (E) Intronic (I) |
CNA reported in DGV |
---|---|---|---|---|---|---|---|---|
1 | p33 | 2 | 2 | Loss | FAF1 | 31 | I | No |
1 | p32.2 | 2 | 2 | Gain | C1orf168 | 50.2 | E/I | No |
2 | p23.2 | 2 | 2 | Gain | ALK | 62 | E/I | Yes |
2 | q21.2–q21.3 | 2 | 2 | Gain | MGAT5 | 72 | E/I | No |
3 | p24.2 | 2 | 2 | Gain | THRB | 55.7 | I | No |
3 | q11.2 | 2 | 3 | Gain | LOC255025 | 50 | E/I | No |
3 | q12.2 | 2 | 3 | Gain | ABI3BP | 143 | E/I | Yes |
3 | q13.13 | 2 | 3 | Gain | DZIP3 | 10.6 | I | No |
3 | q13.31 | 2 | 3 | Gain | ZBTB20 | 39 | I | No |
3 | q13.31 | 2 | 3 | Gain | GAP43 | 399 | T | No |
3 | q13.31 | 2 | 3 | Gain | LSAMP | 53 | I | No |
3 | q13.33 | 2 | 3 | Gain | TMEM39A | 176 | T | No |
3 | q13.33 | 2 | 3 | Gain | KTELC1 | 176 | T | No |
3 | q13.33 | 2 | 3 | Gain | C3orf1 | 176 | T | No |
3 | q13.33 | 2 | 3 | Gain | CD80 | 176 | T | No |
3 | q13.33 | 2 | 3 | Gain | ADPRH | 176 | T | No |
3 | q21.1 | 2 | 3 | Gain | HSPBAP1 | 101 | E/I | No |
3 | q21.1 | 2 | 4 | Gain | DIRC2 | 101 | T | No |
3 | q21.1 | 2 | 4 | Gain | LOC100129550 | 101 | T | Yes |
3 | q21.1 | 2 | 4 | Gain | SEC22A | 114 | T | No |
3 | q21.1 | 2 | 4 | Gain | PTPLB | 125 | T | No |
3 | q21.1 | 3 | 4 | Gain | MYLK | 70 | E/I | No |
3 | q21.1 | 2 | 4 | Gain | CCDC14 | 121 | E/I | Yes |
3 | q21.2 | 2 | 4 | Gain | KALRN | 169 | T | No |
3 | q21.2 | 2 | 4 | Gain | UMPS | 169 | T | No |
3 | q21.2 | 2 | 4 | Gain | ZNF148 | 164 | E/I | Yes |
3 | q21.2 | 2 | 4 | Gain | ALDH1L1 | 171 | E/I | No |
3 | q21.3 | 3 | 4 | Gain | TXNRD3IT1 | 299 | E/I | No |
3 | q21.3 | 3 | 4 | Gain | CHCHD6 | 299 | E/I | No |
3 | q21.3 | 2 | 4 | Gain | KLHDC6 | 95 | T | No |
3 | q21.3 | 2 | 4 | Gain | RUVBL1 | 211 | E/I | Yes |
3 | q21.3 | 2 | 4 | Gain | EEFSEC | 211 | E/I | Yes |
3 | q21.3 | 2 | 4 | Gain | GATA2 | 76 | E/I | Yes |
3 | q21.3 | 3 | 4 | Gain | LOC90246 | 76 | T | Yes |
3 | q21.3 | 2 | 4 | Gain | C3orf27 | 120.7 | T | Yes |
3 | q21.3 | 2 | 4 | Gain | TMCC1 | 268 | T | No |
3 | q21.3 | 2 | 4 | Gain | COL6A4P2 | 131 | T | Yes |
3 | q22.1 | 2 | 4 | Gain | MRPL3 | 62 | E/I | Yes |
3 | q22.1 | 2 | 4 | Gain | SNORA58 | 62 | T | Yes |
3 | q22.1 | 3 | 5 | Gain | CPNE4 | 46 | I | Yes |
3 | q22.1 | 2 | 4 | Gain | CPNE4 | 155 | E/I | Yes |
3 | q22.1 | 2 | 4 | Gain | TMEM108 | 120 | I | Yes |
3 | q22.1 | 2 | 4 | Gain | TOPBP1 | 69 | E/I | No |
3 | q22.1 | 2 | 4 | Gain | RYK | 225 | T | No |
3 | q22.1 | 2 | 4 | Gain | ANAPC13 | 197 | T | Yes |
3 | q22.1 | 2 | 4 | Gain | CEP63 | 197 | T | Yes |
3 | q22.2 | 2 | 4 | Gain | EPHB1 | 144 | E/I | No |
3 | q22.2 | 2 | 4 | Gain | PPP2R3A | 85 | E/I | No |
3 | q22.3 | 2 | 4 | Gain | SOX14 | 925 | T | No |
3 | q22.3 | 3 | 4 | Gain | CLDN18 | 121 | T | Yes |
3 | q22.3 | 2 | 4 | Gain | ARMC8 | 77 | E/I | Yes |
3 | q22.3 | 2 | 4 | Gain | TXNDC6 | 77 | E/I | Yes |
3 | q22.3 | 2 | 4 | Gain | ESYT3 | 202.7 | E/I | No |
3 | q22.3 | 2 | 4 | Gain | CEP70 | 202.7 | T | No |
3 | q22.3 | 2 | 4 | Gain | FAIM | 202.7 | T | No |
3 | q22.3 | 2 | 4 | Gain | PIK3CB | 202.7 | E/I | No |
3 | q22.3 | 3 | 4 | Gain | LOC729627 | 193 | T | No |
3 | q22.3 | 3 | 4 | Gain | LOC389151 | 193 | T | No |
3 | q22.3 | 3 | 4 | Gain | FLJ46210 | 193 | T | No |
3 | q22.3 | 3 | 4 | Gain | BPESC1 | 193 | T | No |
3 | q22.3 | 2 | 4 | Gain | PISRT1 | 319 | T | No |
3 | q23 | 2 | 4 | Gain | MRPS22 | 89 | E/I | No |
3 | q23 | 2 | 4 | Gain | COPB2 | 89 | T | No |
3 | q23 | 3 | 4 | Gain | NMNAT3 | 277.8 | E/I | No |
3 | q23 | 4 | 5 | Gain | CLSTN2 | 46 | I | Yes |
3 | q23 | 2 | 4 | Gain | TRIM42 | 443 | T | Yes |
3 | q23 | 2 | 4 | Gain | SLC25A36 | 443 | T | Yes |
3 | q24 | 2 | 4 | Gain | SLC9A9 | 138 | E/I | Yes |
3 | q24 | 2 | 4 | Gain | PLSCR4 | 47 | E/I | No |
3 | q24 | 2 | 4 | Gain | PLSCR5 | 69 | T | No |
3 | q24 | 2 | 4 | Gain | AGTR1 | 194 | E/I | No |
3 | q25.1 | 2 | 4 | Gain | P2RY13 | 74 | E/I | No |
3 | q25.1 | 2 | 4 | Gain | MED12L | 74 | E/I | No |
3 | q25.1 | 2 | 4 | Gain | P2RY13 | 74 | T | No |
3 | q25.2 | 2 | 4 | Gain | SGEF | 364 | E/I | Yes |
3 | q25.2–q25.31 | 3 | 4 | Gain | MME | 87.4 | E/I | No |
3 | q25.32 | 2 | 4 | Gain | VEPH1 | 78 | E/I | Yes |
3 | q25.32 | 2 | 4 | Gain | C3orf55 | 78 | E/I | No |
3 | q25.32 | 3 | 4 | Gain | MLF1 | 50 | E/I | No |
3 | q26.1 | 2 | 4 | Gain | C3orf57 | 120.6 | E/I | No |
3 | q26.1 | 2 | 4 | Gain | OTOL1 | 120.6 | T | No |
3 | q26.1 | 3 | 4 | Gain | SI | 747 | T | No |
3 | q26.1 | 3 | 4 | Gain | BCHE | 329 | E/I | No |
3 | q26.1 | 2 | 4 | Gain | ZBBX | 307 | T | No |
3 | q26.2 | 6 | 7 | Gain | MDS1 | 28 | E/I | No |
3 | q26.2 | 2 | 4 | Gain | TERC | 59 | T | Yes |
3 | q26.2 | 2 | 4 | Gain | ARPM1 | 59 | T | Yes |
3 | q26.2 | 2 | 4 | Gain | MYNN | 59 | T | Yes |
3 | q26.2 | 2 | 4 | Gain | LRRC34 | 59 | E/I | Yes |
3 | q26.2 | 3 | 5 | Gain | TNIK | 31 | E/I | No |
3 | q26.31 | 2 | 4 | Gain | NLGN1 | 125 | I | Yes |
3 | q26.31 | 2 | 4 | Gain | NLGN1 | 64 | E/I | No |
3 | q26.31 | 2 | 4 | Gain | NAALADL2 | 113 | E/I | Yes |
3 | q26.32 | 2 | 4 | Gain | TBL1XR1 | 60 | E/I | No |
3 | q26.32 | 2 | 4 | Gain | KCNMB2 | 121 | E/I | No |
3 | q26.33 | 2 | 4 | Gain | USP13 | 59 | E/I | No |
3 | q26.33 | 2 | 4 | Gain | PEX5L | 81 | E/I | No |
3 | q26.33 | 2 | 4 | Gain | CCDC39 | 118 | E/I | Yes |
3 | q27.1 | 2 | 4 | Gain | YEATS2 | 112 | E/I | No |
3 | q27.1 | 2 | 4 | Gain | MAP6D1 | 112 | T | No |
3 | q27.1 | 2 | 4 | Gain | PARL | 112 | E/I | No |
3 | q27.2 | 2 | 4 | Gain | VPS8 | 218 | E/I | No |
3 | q27.2 | 2 | 4 | Gain | ETV5 | 157 | T | No |
3 | q27.2 | 2 | 4 | Gain | DGKG | 157 | E/I | No |
3 | q27.3 | 2 | 4 | Gain | CRYGS | 110 | E/I | No |
3 | q27.3 | 2 | 4 | Gain | TBCCD1 | 110 | T | No |
3 | q27.3 | 2 | 4 | Gain | DNAJB11 | 110 | T | No |
3 | q27.3 | 2 | 4 | Gain | AHSG | 110 | T | Yes |
3 | q27.3 | 2 | 4 | Gain | FETUB | 110 | E/I | Yes |
3 | q27.3 | 2 | 4 | Gain | ST6GAL1 | 46 | E/I | Yes |
3 | q27.3 | 2 | 4 | Gain | MASP1 | 428 | E/I | No |
3 | q27.3 | 3 | 4 | Gain | RTP4 | 148 | T | No |
3 | q27.3 | 2 | 4 | Gain | SST | 428 | T | No |
3 | q27.3 | 2 | 4 | Gain | FLJ42393 | 191 | T | Yes |
3 | q28 | 3 | 4 | Gain | LPP | 191 | E/I | Yes |
3 | q28 | 2 | 4 | Gain | TP63 | 142 | E/I | No |
3 | q28 | 2 | 4 | Gain | CLDN1 | 203 | T | No |
3 | q28 | 2 | 4 | Gain | CLDN16 | 203 | T | No |
3 | q28 | 2 | 4 | Gain | TMEM207 | 203 | T | No |
3 | q29 | 2 | 4 | Gain | C3orf59 | 396 | E/I | No |
3 | q29 | 2 | 4 | Gain | MGC2889 | 396 | T | Yes |
3 | q29 | 2 | 4 | Gain | HRASLS | 396 | T | Yes |
3 | q29 | 2 | 4 | Gain | ATP13A5 | 396 | E/I | No |
3 | q29 | 2 | 4 | Gain | ATP13A4 | 158 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | OPA1 | 158 | T | Yes |
3 | q29 | 2 | 4 | Gain | GP5 | 97 | E/I | No |
3 | q29 | 2 | 4 | Gain | ATP13A3 | 97 | T | Yes |
3 | q29 | 2 | 4 | Gain | TM4SF19 | 87 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | UBXN7 | 87 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | DLG1 | 240 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | FYTTD1 | 50 | T | Yes |
3 | q29 | 2 | 4 | Gain | LRCH3 | 50 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | RPL35A | 91 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | IQCG | 91 | E/I | Yes |
3 | q29 | 2 | 4 | Gain | LMLN | 91 | T | Yes |
4 | q13.3 | 2 | 2 | Gain | SLC4A4 | 46 | E/I | No |
11 | p15.1 | 2 | 2 | Gain | NELL1 | 43 | I | No |
14 | q13.1 | 2 | 2 | Gain | NPAS3 | 43 | I | Yes |
16 | p11.1 | 2 | 2 | Gain | LOC283914 | 277 | T | Yes |
21 | p11.2–p11.1 | 2 | 3 | Loss | TPTE | 107 | T | Yes |
X | p22.33 | 3 | 3 | Gain | DHRSX | 31 | E/I | Yes |
X | q12 | 2 | 2 | Gain | EDA2R | 91 | E/I | Yes |
Y | q11.21 | 2 | 2 | Gain | USP9Y | 60 | E/I | No |
129 gains concerned the long arm of chromosome 3 (3q). 123 gains concerned gene coding regions. 75 CNA did not include previously reported polymorphism (Database of Genomic Variants, DGV). Gain of one exon of MDS1 (part of MECOM gene) was recurrently observed in 7 patients (including mosaicism phenomenon)
Chr chromosome, Recurrence number of patients with the same CNA, CN state Copy Number state, gain or loss