Table 2.
Somatic mutations identified in the discovery and prevalence screens of ten chromatin-remodeling genes
| Gene Name (RefSeq ID; UCSC Transcript Accession ID^) |
Mutation frequency in serous tumors |
Mutation frequency in clear cell tumors |
Tumor | Histology | Nucleotide Change | Amino Acid Change |
Mutation type |
Mutation Assessor Predicted Effect on Function |
|---|---|---|---|---|---|---|---|---|
|
EP300 (NM_001429; uc003azi.3) |
8% (4/52) | 4% (1/23) | T56 | Serous | c.5195G>A | p.Arg1732His | Missense | Medium |
| T3 (OM1323) |
Serous | c.4879C>T | p.Arg1627Trp | Missense | Medium | |||
| T74 | Serous | c.4880G>A | p.Arg1627Gln | Missense | Medium | |||
| T79 | Serous | c.4404A>C | p.Lys1468Asn | Missense | Medium | |||
| T113 | Clear cell | c.2863C>T | p.Pro955Ser | Missense | Neutral | |||
|
ARID1A (NM_006015; uc001bmv.1) |
6% (3/52) | 13% (3/23) | T69 | Serous | c.5161C>T | p.Arg1721* | Nonsense | - |
| T74 | Serous | c.3826C>T | p.Arg1276* | Nonsense | - | |||
| T79 | Serous | c.5299G>T | p.Glu1767* | Nonsense | - | |||
| T79 | Serous | c.5965C>T | p.Arg1989* | Nonsense | - | |||
| T61 | Clear cell | c.1645delC | p.Tyr551Thrfs*68 | Frameshift | - | |||
| T82 | Clear cell | c.3478_3479insT | p.Leu1160Phefs*33 | Frameshift | - | |||
| T113 | Clear cell | c.5142G>T | p.Glu1714Asp | Missense | Low | |||
|
TSPYL2 (NM_022117; uc004drx.1) |
6% (3/52) | 0% (0/23) | T70 | Serous | c.752A>C | p.His251Pro | Missense | - |
| (NM_022117; uc004drw.2) |
T3 (OM1323) |
Serous | c.1636G>T | p.Gly546Cys | Missense | Neutral | ||
| T30 | Serous | c.1952G>C | p.Gly651Ala | Missense | Neutral | |||
|
KDM4B (NM_015015; uc002mbq.3) |
4% (2/52) | 0% (0/23) | T154 | Serous | c.2138C>T | p.Pro713Leu | Missense | Neutral |
| T3 (OM1323) |
Serous | c.964G>A | p.Val322Met | Missense | Low | |||
| T3 (OM1323) |
Serous | c.1855C>T | p.Pro619Ser | Missense | Low | |||
|
TRIM16 (NM_006470; uc002gox.2) |
2% (1/52) | 0% (0/23) | T80 | Serous | c.1319delC | p.Tyr440Metfs*3 | Frameshift | - |
|
CTCF (NM_006565; uc002etl.2) |
2% (1/52) | 0% (0/23) | T70 | Serous | c.1094A>C | p.Lys365Thr | Missense | Neutral |
|
HDAC7 (NM_015401; uc001rqi.2) |
2% (1/52) | 0% (0/23) | T75 | Serous | c.1024G>A | p.Glu342Lys | Missense | Low |
|
TRRAP (NM_003496; uc003.upp.1) |
2% (1/52) | 0% (0/23) | T47 | Serous | c.5035G>A | p.Ala1679Thr | Missense | Low |
|
YEATS4 (NM_006530; uc001sux.1) |
2% (1/52) | 0% (0/23) | T27 | Serous | c.617delA | p.Thr206Leufs*1 | Frameshift | - |
|
BAZ1B (NM_032408; uc003tyc.1) |
4% (2/52) | 4% (1/23) | T65 | Serous | c.136A>C | p.Ser46Arg | Missense | Low |
| T3 (OM1323) |
Serous | c.3448G>A | p.Glu1150Lys | Missense | Neutral | |||
| T77 | Clear cell | c.3167G>A | p.Arg1056His | Missense | Low |
-
()Not evaluated by Mutation Assessor
^
UCSC transcript IDs are based on the hg18 assembly of the human genome sequence