Table 4 WES identified 15 variants in COA/UAB-6. Information on each variant (mutation) including gene name, mutation location, mutation type, and known functions/pathways of normal gene product.
From: Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors
Ch#+ | Gene | Mutation | Mutation type | Known functions/pathways of normal gene product |
|---|---|---|---|---|
1 | OR2T33 | p.Ser87Asn/c.260 G > A | Missense | G-protein receptor activity, olfactory activity |
3 | C3orf36 | p.Pro26Gln/c.77 C > A | Missense | Uncharacterized protein |
4* | EVC2 | p.Ser270*/c.809 C > A | Nonsense | Hedgehog pathway; bone formation |
6 | PTPRK | p.Ala27Thr/c.79 G > A | Missense | Cell adhesion and growth, tumor cell invasion and metastasis |
9* | CDK5RAP2 | Splice site donor | Mitotic spindle orientation, spindle checkpoint activation | |
9 | PTGES | p.Val37Met/c.109 G > A | Missense | Prostaglandin metabolism |
11* | CRY2 | p.Gly326Arg/c.976 G > A | Missense | Circadian rhythm |
12 | NPFF | p.Gln28Lys/c.82 C > A | Missense | Modulates morphine-induced effects |
12* | ATXN2 | p.Ala1032Thr/c.3094 G > A | Missense | Negative regulator of EGFR trafficking |
14 | ADAM21 | p.Pro40Leu/c.119 C > T | Missense | Membrane-bound cell surface adhesion molecule, sperm maturation |
14 | AHNAK2 | p.Leu3217Pro/c.9650 T > C | Missense | Activity may be calcium-dependent |
16 | POLR3E | p.Ser543Arg/c.1629 C > A | Missense | RNA transcription; DNA-dependent RNA polymerase |
18 | ARHGAP28 | p.Lys134Asn/c.402 G > T | Missense | GTPase activator |
19* | NUP62 | p.Asp365Tyr/c.1093 G > T | Missense | Key component of the nuclear pore complex, nucleocytoplasmic transport |
X | CYSLTR1 | p.Leu7Met/c.19 C > A | Missense | Receptor for cystenyl leukotrienes, bronchoconstriction |
