Table 1 The 21 best candidate genes that are MYCN-dependent and harbor recurrent, verified missense variants in HR-NB
Hugo Symbol | MYCN-associated expression | Case USI | Chromosome | Start_Position | Variant Classification | Mycn statues | Verification Method |
|---|---|---|---|---|---|---|---|
AHCTF1 | MA-hi | TARGET-30-PAPNEP | 1 | 247,063,482 | Missense | amp | Â |
| Â | TARGET-30-PASAZJ | 1 | 247,014,426 | Missense | non-amp | (2) | |
ALK | MA-hi | N130Â T | 2 | 29,286,167 | Missense | amp | (1) |
| Â | N160Â T | 2 | 29,286,167 | Missense | gain | (1) | |
| Â | N744Â T | 2 | 29,286,167 | Missense | non-amp | (1) | |
| Â | N198Â T | 2 | 29,297,200 | Missense | non-amp | (1) | |
| Â | TARGET-30-PAKXDZ | 2 | 29,445,213 | Missense | amp | (3) | |
| Â | TARGET-30-PANRVJ | 2 | 29,443,697 | Missense | non-amp | (4) | |
| Â | TARGET-30-PARKNP | 2 | 29,443,697 | Missense | non-amp | (4) | |
| Â | TARGET-30-PARLTG | 2 | 29,443,696 | Missense | non-amp | (4) | |
| Â | TARGET-30-PARZIP | 2 | 29,443,696 | Missense | non-amp | (4) | |
| Â | TARGET-30-PAPRPR | 2 | 29,443,695 | Missense | amp | (4) | |
| Â | TARGET-30-PASVRU | 2 | 29,443,695 | Missense | amp | (4) | |
| Â | TARGET-30-PATFXV | 2 | 29,443,695 | Missense | amp | (4) | |
| Â | TARGET-30-PALAKE | 2 | 29,443,695 | Missense | amp | (3) | |
| Â | TARGET-30-PANZVU | 2 | 29,443,695 | Missense | non-amp | (3) | |
| Â | TARGET-30-PATFCY | 2 | 29,436,875 | Missense | non-amp | (4) | |
| Â | TARGET-30-PAINLN | 2 | 29,436,860 | Missense | non-amp | (3) | |
| Â | TARGET-30-PASKFV | 2 | 29,432,664 | Missense | amp | (4) | |
| Â | TARGET-30-PANWRR | 2 | 29,432,664 | Missense | non-amp | (4) | |
| Â | TARGET-30-PANXJL | 2 | 29,432,664 | Missense | non-amp | (4) | |
| Â | TARGET-30-PAPTFZ | 2 | 29,432,664 | Missense | amp | (4) | |
| Â | TARGET-30-PAPTLV | 2 | 29,432,664 | Missense | amp | (4) | |
| Â | TARGET-30-PARURB | 2 | 29,432,664 | Missense | non-amp | (4) | |
| Â | TARGET-30-PALNLU | 2 | 29,432,664 | Missense | non-amp | (3) | |
| Â | TARGET-30-PANBCI | 2 | 29,432,664 | Missense | amp | (3) | |
| Â | TARGET-30-PASAZJ | 2 | 29,432,664 | Missense | non-amp | (2) (4) | |
| Â | TARGET-30-PAREGK | 2 | 29,443,695 | Missense | non-amp | (2)(5) | |
ATM | MA-hi | TARGET-30-PANYGR | 11 | 108,196,934 | Silent | non-amp | Â |
| Â | TARGET-30-PANRHJ | 11 | 108,200,975 | Missense | non-amp | Â | |
| Â | TARGET-30-PANRRW | 11 | 108,196,798 | Missense | non-amp | (2) | |
FANCM | MA-hi | TARGET-30-PASXRG | 14 | 45,646,146 | Missense | amp | (4) |
| Â | TARGET-30-PARHUX | 14 | 45,657,091 | Splice_Site | amp | (4) | |
| Â | TARGET-30-PARETE | 14 | 45,658,176 | Nonsense | amp | (4) | |
| Â | N492Â T | 14 | Â | Mut. Splice Junction | non-amp | Â | |
MRPS27 | MA-hi | TARGET-30-PAPSKM | 5 | 71,519,665 | Missense | non-amp | (2)(5) |
| Â | TARGET-30-PAPSKM | 5 | 71,522,027 | Splice_Site_GWAS SNP | non-amp | (2)(5) | |
MSH2 | MA-hi | TARGET-30-PAITCI | 2 | 47,641,416 | Silent | non-amp | Â |
| Â | TARGET-30-PARKNP | 2 | 47,693,815 | Frame_Shift_Del | non-amp | (4) | |
| Â | N538Â T | 2 | 2,367,537 | Protein Fusion | amp | Â | |
MYCN | MA-hi | TARGET-30-PAPLSD | 2 | 16,082,317 | Missense | non-amp | (4) |
| Â | TARGET-30-PARCRR | 2 | 16,082,317 | Missense | non-amp | (4) | |
| Â | TARGET-30-PARVNT | 2 | 16,082,317 | Missense | non-amp | (4) | |
| Â | TARGET-30-PASLGS | 2 | 16,082,317 | Missense | non-amp | (2)(3)(5) | |
| Â | NB-1744-Tumor | 19 | 19,337,844 | Missense | Â | (4) | |
| Â | N619Â T | 2 | 16,003,271 | Missense | amp | (1) | |
NCAN | MA-hi | TARGET-30-PANIPC | 19 | 19,337,844 | Missense | amp | (4) |
| Â | TARGET-30-PAPKXS | 19 | 19,338,389 | Missense | non-amp | (4) | |
| Â | TARGET-30-PANLET | 19 | 19,359,524 | Missense | non-amp | (4) | |
STAG1 | MA-hi | TARGET-30-PAIPGU | 3 | 136,117,607 | Missense | non-amp | Â |
| Â | TARGET-30-PARDCK | 3 | 136,078,044 | Missense | non-amp | Â | |
| Â | TARGET-30-PAPZFW | 3 | 136,057,265 | Frame_Shift_Del | non-amp | (4) | |
BARD1 | MA-hi | TARGET-30-PATGWT | 2 | 215,595,215 | Nonsense; 1p-;17q+ | amp | (3) |
| Â | TARGET-30-PAHYWC | 2 | 215,657,051 | Nonsense; 9p-; 10q-;17q+ | amp | (3) | |
| Â | GWAS | 2 | 215,672,546 | GWAS SNP | Â | (6) | |
| Â | GWAS | 2 | 215,635,794 | GWAS SNP | Â | (6) | |
ARID1A | MN-hi | TARGET-30-PALNLU | 1 | 27,099,000 | Missense | non-amp | (3) |
| Â | TARGET-30-PALXHW | 1 | 27,106,214 | Missense | non-amp | (3) | |
| Â | N554Â T | 1 | 26,970,220 | DEL | amp | (1) | |
CACNB3 | MN-hi | TARGET-30-PAMDAL | 12 | 49,220,231 | Missense | amp | (4) |
| Â | N608Â T | 12 | 47,505,015 | Missense | amp | (1) | |
IL16 | MN-hi | TARGET-30-PAIMDT | 15 | 81,561,966 | Missense | non-amp | (3) |
| Â | N170Â T | 15 | 79,385,873 | Missense | non-amp | (1) | |
INPP5D | MN-hi | TARGET-30-PANUIF | 2 | 234,070,424 | Missense | non-amp | (4) |
| Â | TARGET-30-PANRVJ | 2 | 234,098,527 | Missense | non-amp | (4) | |
LRRTM4 | MN-hi | TARGET-30-PATEPF | 2 | 77,746,658 | Frame_Shift_Ins | non-amp | (4) |
| Â | N717Â T | 2 | 77,600,317 | GWAS SNP | amp | (1) | |
MLL5 | MN-hi | TARGET-30-PARBLH | 7 | 104,748,301 | Missense | non-amp | Â |
| Â | TARGET-30-PANYGR | 7 | 104,753,479 | Missense | non-amp | (2) | |
|  | N198 T | 7 | 104,437,581–104,447,802 | Deletion | non-amp |  | |
NCAM1 | MN-hi | TARGET-30-PAPZFW | 11 | 113,130,966 | Silent | non-amp | (4) |
| Â | TARGET-30-PASGUT | 11 | 113,077,981 | Splice_Site | non-amp | (4) | |
NRAS | MN-hi | TARGET-30-PANBSP | 1 | 115,258,745 | Missense | non-amp | (4) |
| Â | TARGET-30-PAPTMM | 1 | 115,256,530 | Missense | amp | (2)(5) | |
SYNRG | MN-hi | TARGET-30-PARDIW | 17 | 35,930,941 | Missense | non-amp | Â |
| Â | TARGET-30-PASAZJ | 17 | 35,956,340 | Missense | non-amp | (2)(5) | |
TLN2 | MN-hi | TARGET-30-PASRFS | 15 | 63,029,117 | Silent | non-amp | Â |
| Â | TARGET-30-PARNNG | 15 | 63,030,490 | Missense | non-amp | Â | |
| Â | TARGET-30-PARIRD | 15 | 62,942,372 | Missense | amp | (2)(5) | |
LMO1 | MN-hi | GWAS | 10 | 8,252,853 | GWAS SNP | Â | (6) |
| Â | GWAS | 10 | 8,238,639 | GWAS SNP | Â | (6) |