Table 2 Information on candidate genes and validation of somatic mutations by Sanger sequencing
From: Aberrant CDK4 Amplification in Refractory Rhabdomyosarcoma as Identified by Genomic Profiling
Exome sequencing (sample #1) | Sanger sequencing | |||||
|---|---|---|---|---|---|---|
Gene Name | Gene Description | Allele (%) | Variant | Primary Tumor (sample #1) | Ascites (sample #4) | Pleural metastases (sample #2) |
SCN1B | sodium channel, voltage-gated, type I, beta | 52.4 | c.218A > G:p.Y73C | 218A > G | 218A > G | 218A > G |
PPP1R3A | protein phosphatase 1, regulatory subunit 3A | 46.5 | c.1941T > A:p.D647E | 1941T > A | 1941T > A | 1941T > A |
GRID2 | glutamate receptor, ionotropic, delta 2 | 46.3 | c.1944C > A:p.Y648X | Fail | 1944C > A | 1944C > A |
APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 43.4 | c.266G > A:p.G89D | WT | 266G > A | 266G > A |
ZNF142 | zinc finger protein 142 | 42.9 | c.1138G > A:p.A380T | WT | 1138G > A | 1138G > A |
ZYG11A | zyg-11 homolog A (C. elegans) | 41.9 | c.1762G > T:p.E588X | 1762G > T | 1762G > T | 1762G > T |
RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1 | 39.8 | c.241C > A:p.H81N | WT | 241C > A | 241C > A |
TCF7L1 | transcription factor 7-like 1 (T-cell specific, HMG-box) | 31.6 | c.1006GA:p.V336M | WT | WT | WT |
TEX13B | testis expressed 13B | 22.2 | c.406C > T:p.L136F | WT | WT | WT |
DSCAML1 | Down syndrome cell adhesion molecule like 1 | 13.5 | c.3110T > G:p.L1037R | WT | WT | WT |
