Table 2 Mutations associated with failure to achieve EFS24
Gene | Overall number of patients with mutation | Patients achieving EFS24 (N=38) | Failure to achieve EFS24 (N=13) | P-value | Cytogenetic band | In region of CNA | Human genome compendium description | GO annotation/function | ||
|---|---|---|---|---|---|---|---|---|---|---|
N with mutation | % With mutation | N with mutation | % With mutation | |||||||
ODZ3/TENM3 | 4 | 0 | 0 | 4 | 31 | 0.003 | 5q34 | Yes | Tenascin family | Protein heterodimerization and homodimerization activity |
KIAA1614 | 5 | 1 | 2.6 | 4 | 31 | 0.02 | 1q25.3 | Yes | Reported gene with no known function | – |
C10orf12 | 3 | 0 | 0 | 3 | 23 | 0.02 | 10q24.1 | Yes | Reported gene with no known function | – |
DIAPH2 | 3 | 0 | 0 | 3 | 23 | 0.02 | Xq21.33 | No | Formin homology family | Rho GTPase binding and actin binding |
SEC14L5 | 3 | 0 | 0 | 3 | 23 | 0.02 | 16p13.3 | Yes | Reported gene with no known function | – |
BAI1 | 3 | 0 | 0 | 3 | 23 | 0.02 | 8q24.3 | Yes | G-protein-coupled receptor | G-protein-coupled receptor activity |
SDK2 | 3 | 0 | 0 | 3 | 23 | 0.02 | 17q25.1 | Yes | Immunoglobulin superfamily | Cell adhesion |
TRIM2 | 3 | 0 | 0 | 3 | 23 | 0.02 | 4q31.1 | Yes | Tripartitie motif family | Ubiquitin-protein ligase activity and zinc ion binding |
MYO19 | 3 | 0 | 0 | 3 | 23 | 0.02 | 17q12 | Yes | Myosin | Motor activity and actin binding |
FBLN2 | 3 | 0 | 0 | 3 | 23 | 0.02 | 3p25.1 | Yes | Fibulin family | Extracellular matrix binding and calcium ion binding |
COL12A1 | 3 | 0 | 0 | 3 | 23 | 0.02 | 6q13 | Yes | Alpha chain of type XII collagen | Stuctural molecule activity |
ALDH3A2 | 3 | 0 | 0 | 3 | 23 | 0.02 | 17p11.2 | Yes | Aldehyde dehydrogenase family | Long-chain-alcohol oxidase and aldehyde dehydrogenase (NAD) |
KIF1C | 3 | 0 | 0 | 3 | 23 | 0.02 | 17p13.2 | Yes | Kinesin family | Motor activity and microtubule motor activity |
HEPH | 3 | 0 | 0 | 3 | 23 | 0.02 | 11q12 | No | Multicopper oxidase protein family | Oxidoreductase activity and copper ion binding |
FGFRL1 | 3 | 0 | 0 | 3 | 23 | 0.02 | 4p16 | Yes | Fibroblast growth factor receptor | Heparin binding and fibroblast growth factor-activated receptor activity |
HERC2 | 8 | 3 | 7.9 | 5 | 38 | 0.03 | 15q13 | Yes | HERC gene family | Ubiquitin-protein ligase activity and heme binding |
