Table 2 Genes of interest selected after manual annotation, together with their RNA-seq, PCR and genomic validations, predictions of effects in humans following the SIFT and Poly-Phen models, and Clinvar accession number of information related to the residue position.
From: Insights into aging mechanisms from comparative genomics in orange and silver roughies
Gene | Variant | Species | RNA-seq validation | Genomic validation | PCR validation | SIFT | PolyPhen | Clinvar accession2 |
|---|---|---|---|---|---|---|---|---|
ACE | R508H | Hatl | Yes (50%) | Yes (50%) | yes | T (0.57) | PsD (0.757) | – |
ATM | R184Q | Hmed | yes | yes | yes | APF (0.00) | PbD (0.992) | VCV000481315.7 |
ATM | Q2177R | Hmed | yes | yes | yes | APF (0.00) | PbD (0.999) | VCV001810514.4 |
ATM | L8F | Hatl | yes | yes | yes | APF (0.03) | PbD (1.00) | VCV000487013.7 |
ATM | V1085I | Hatl | yes | yes | yes | APF (0.01) | PbD (0.995) | VCV000453455.2 |
ATM | I2914V | Hatl | yes | yes | yes | APF (0.03) | B (0.208) | VCV000187320.22 |
ATM | V2937M | Hatl | yes | yes | yes | APF (0.01) | PsD (0.929) | VCV000187681.3 |
BLM | M827V1 | Hatl | yes | yes | yes | T (0.10) | PbD (1.00) | – |
BLM | I1039V1 | Hatl | yes | yes | yes | T (0.11) | B (0.004) | – |
BRCA2 | S2807R | Hmed | yes | yes | yes | APF (0.00) | PbD (0.982) | VCV000216033.5 |
BRCA2 | S2807C | Hatl | yes | yes | yes | APF (0.00) | PsD (0.461) | VCV000441481.16 |
CETP | V29A | Hmed | no reads | yes | yes | APF (0.02) | B (0.001) | – |
DOCK8 | R398H | Hmed | yes | yes | yes | APF (0.00) | PbD (0.999) | VCV000235481.7 |
FANCA | M427V | Hatl | yes | yes | – | – | B (0.271) | VCV001023721.1 |
FANCI | S979T | Hmed | yes | yes | yes | – | B (0.230) | VCV000408250.1 |
NUDT1 | G99S | Hmed | yes | yes | yes | APF (0.00) | PsD (0.772) | – |
SIRT1 | V412I | Hatl | yes | yes | yes | APF (0.03) | PsD (0.925) | – |
XRCC5 | E417Q | Hatl | yes | yes | yes | T (0.29) | PsD (0.770) | – |
XRCC5 | M427T | Hatl | yes | yes | yes | APF (0.00) | B (0.128) | – |
