Table 3.
WES identified 19 variants in COA/UAB-3 neuroblastoma specimen. Information on each variant (mutation) including gene name, mutation location, mutation type, and known functions/pathways of normal gene product.
| Ch#+ | Gene | Mutation | Mutation type | Known functions/pathways of normal gene product |
|---|---|---|---|---|
| 1* | TCEB3 | p.Ala18Val/c.53 C > T | Missense | Activates RNA polymerase II elongation |
| 1* | TOE1 | p.Ala2Val/c.5 C > T | Missense | Inhibits cell growth and cell cycle progression |
| 1 | MAEL | p.Tyr344Asn/c.1030 T > A | Missense | Spermatogenesis |
| 1 | SELL | Start gained | Mediates adhesion | |
| 2* | WDR35 | p.Ala1018Asp/c.3053 C > A | Missense | Promotes CASP3 activation |
| 2* | COL4A4 | p.Gly645*/c.1933G > T | Nonsense | Major structural component of basement membrane |
| 3 | MUC4 | p.Ala1646Thr/c.4936 G > A | Missense | Plays a role in tumor progression; anti-adhesive properties |
| 6 | CLIC5 | p.Gln50His/c.150 G > T | Missense | Chloride ion transport |
| 6 | FOXO3 | p.Glu17Val/c.50 A > T | Missense | Apoptosis; transcriptional activator |
| 13 | ITM2B | p.Ala153Val/c.458 C > T | Missense | Processing beta-amyloids A4 precursor protein (APP) |
| 14 | RNASE4 | p.Cys85Phe/c.254 G > T | Missense | Degrades RNA |
| 14 | ADAM21 | p.Pro40Leu/c.119 C > T | Missense | Adhesion protein involved in sperm maturation; epithelial cell function |
| 17 | ACADVL | p.Phe266Leu/c.798 C > A | Missense | Mitochondrial fatty acid beta-oxidation |
| 19 | GIPR | p.His115Asn/c.343 C > A | Missense | Pathogenesis of diabetes |
| 19 | RHPN2 | p.Val73Met/c.217 G > A | Missense | Binds to and activates GTP-Rho, negatively regulates stress fiber formation and facilitates motility of many cell types including T and B cells. |
| 19 | RHPN2 | p.Arg255Gln/c.764 G > A | Missense | Binds to and activates GTP-Rho, negatively regulates stress fiber formation and facilitates motility of many cell types including T and B cells. |
| 19 | RHPN2 | Start gained | Binds to and activates GTP-Rho, negatively regulates stress fiber formation and facilitates motility of many cell types including T and B cells. | |
| 19* | STK11 | p.Arg86*/c.256 C > T | Nonsense | Tumor suppressor |
| 20 | SNX21 | p.Leu106Pro/c.317 T > C | Missense | Intracellular trafficking |
+Chromosome number.
*CADD score ≥ 20.