Table 1.
Human gene name | Yeast gene name | e-value | Human mRNA accession no. | Human protein accession no. | Gene description | No. of mutations | No. of tumors analyzed | Exon no. | Nucleotide change | Amino acid change | Tumor |
---|---|---|---|---|---|---|---|---|---|---|---|
SMC1L1 | SMC1 | 1.00E−35 | NM_006306.2 | NP_006297.2 | Structural maintenance of chromosomes 1A | 4 | 132 | 7 | 1186T > CT | 396F > L/F | CO94 |
8 | 1300C > T | 434R > W | HX8 | ||||||||
10 | 1680C > CG | 560I > I/M | CX3 | ||||||||
24 | 3556G > AG | 1186V > I/V | HX129 | ||||||||
NIPBL | SCC2 | 3.00E−19 | NM_015384.3 | NP 597677.2 | Nipped-B homolog (Drosophila) | 4 | 132 | 8 | 1435C > CT | 479R > R/X | HX7 |
9 | 2967_2968 het_insT | Frameshift after 992 | CO71 | ||||||||
9 | 1660C > CT | 554Q > Q/X | HX168 | ||||||||
28 | 5378T > TA | 1793M > M/K | MX24 | ||||||||
CSPG6 | SMC3 | 1.00E−45 | NM_005445.3 | NP 005436.1 | Structural maintenance of chromosomes 3 | 1 | 130 | 23 | 2635C > CT | 879R > R/X | MX13 |
STAG3 | SCC3 | 3.00E−13 | NM_012447.2 | NP_036579.2 | Cohesin subunit SA-3 | 1 | 130 | 22 | 24117T > CT | 795I > T/I | CO71 |
RNF20 | BRE1 | 5.00E−26 | NM_019592 | NP_062538.5 | Ring finger protein 20 | 1 | 36 | 3 | 370C > CT | 124R > R/X | HX88 |