Date | 2024-01-02 |
---|---|
Case | SampleCase |
Gene | RTEL1 |
Protein | Q9NZ71-1 |
Variant | G546D |
Cosmis Score | pValue | cossyn | source | |
---|---|---|---|---|
Normalized: | -0.64 | 0.33 | 0.24 | SWISS-MODEL |
PTM Residue | PTM Type | Probability |
---|---|---|
543 | Ubiquitination | 0.6 |
586 | N6-acetyllysine | 0.6 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
swiss | Q9NZ71-1_3_756_7o75.1.A | A | 7o75.1.A | 26.52 | 1.0 | 3 | 756 | 0.16 | 0.519 | -0.03 | 0.598 | ||||||
modbase | ENSP00000359035.3_2 | A | 3crv | 30.0 | 1.0 | 21 | 747 | 0.46 | 0.582 | -0.02 | 0.243 | ||||||
modbase | ENSP00000359035.3_1 | A | 4a15 | 20.0 | 1.0 | 21 | 715 | 0.46 | 0.263 | -0.02 | 0.269 | ||||||
modbase | ENSP00000359035.3_3 | A | 6fwr | 21.0 | 1.0 | 204 | 714 | 0.0 | 0.341 | 0.12 | 0.443 | ||||||
alphafold | AF-Q9NZ71-F1 | A | 0.0 | 1.0 | 72.71 | 94.64 | 1 | 1219 | 2.03 | 0.12 | 0.06 | 0.385 | 0.01 | 0.301 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
swiss | Q9NZ71-1_3_756_7o75.1.A | A | 7o75.1.A | 26.52 | 1.0 | 3 | 756 | 0.16 | 0.519 | -0.03 | 0.598 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.25 | 5.00 | 1.42 | 13.00 | 0.72 | 0.52 | 0.16 | 0.99 | 0.06 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.86 | 10.00 | 0.82 | 20.00 | 0.75 | 0.60 | -0.03 | 0.98 | 0.01 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000359035.3_2 | A | 3crv | 30.0 | 1.0 | 21 | 747 | 0.46 | 0.582 | -0.02 | 0.243 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.16 | 8.00 | 1.43 | 23.00 | 0.72 | 0.58 | 0.46 | 0.97 | 0.19 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.10 | 9.00 | -1.87 | 12.00 | 0.41 | 0.24 | -0.02 | 0.99 | 0.00 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000359035.3_1 | A | 4a15 | 20.0 | 1.0 | 21 | 715 | 0.46 | 0.263 | -0.02 | 0.269 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.27 | 15.00 | -1.05 | 41.00 | 0.61 | 0.26 | 0.46 | 0.90 | 0.25 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.78 | 15.00 | -1.81 | 12.00 | 0.42 | 0.27 | -0.02 | 0.99 | 0.00 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
modbase | ENSP00000359035.3_3 | A | 6fwr | 21.0 | 1.0 | 204 | 714 | 0.0 | 0.341 | 0.12 | 0.443 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
2.18 | 45.00 | 3.11 | 5.00 | 0.64 | 0.34 | 0.00 | 1.00 | 0.00 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
1.90 | 45.00 | -1.32 | 45.00 | 0.65 | 0.44 | 0.12 | 0.87 | 0.17 |
Method | Structure Id | Chain | PDB Template |
PDB Resolution |
Template Identity |
Transcript Identity |
AF Global Quality |
AF Residue Confidence |
Seq Start |
Seq End |
ddG Monomer |
ddG Cartesian |
Pathprox clinvar |
Pathprox clinvar AOC |
Pathprox COSMIC |
Pathprox COSMIC AOC |
PDB Pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
alphafold | AF-Q9NZ71-F1 | A | 0.0 | 1.0 | 72.71 | 94.64 | 1 | 1219 | 2.03 | 0.12 | 0.06 | 0.385 | 0.01 | 0.301 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.46 | 45.00 | 1.68 | 12.00 | 0.70 | 0.38 | 0.06 | 1.00 | 0.02 |
Neutral Kz | Neutral Kt | Pathogenic Kz | Pathogenic Kt | ROC AUC | PR AUC | PathProx | Neutral Constraint | Pathogenic Constraint |
---|---|---|---|---|---|---|---|---|
-3.33 | 45.00 | -1.23 | 15.00 | 0.57 | 0.30 | 0.01 | 1.00 | 0.01 |