The following results are the KinMut-RandomForest predictions for the potential disease implications of each mutation. You can view each in more detail by clicking the buttons on each row.

The results are available for download below the table, as well as the correspondence between the input protein identifiers used as input and their correspondent UniProt accessions, the features used by the algorithm, and it's raw input and output. Additionally we offer some of the in-depth annotations also available for bulk download: Appris, COSMIC, UniProt, dbNSFP, PPI interfaces, etc


KG
Classification of the human kinome according to Manning et al., 2002
CV
Marked pathogenic in ClinVar
#CS
Number of COSMIC samples with variants overlapping that same residue. The number of samples with mutations close to the variant is shown in parenthesis
FL
Variant overlapping a Firestar ligand binding or catalytic residue. The number of Firestar annotated residues close to the variant is shown in parenthesis
MR
Variant overlapping a post-translational modifications (UniProt feature: MOD_RES) annotated residue. The number of such residues close to the variant is shown in parenthesis
MUT
Variant overlapping a residue experimentally altered by mutagenesis (UniProt feature: MUTAGEN). The number of such resdidues close to the variant is shown in parenthesis
DT
The protein is targeted by an FDA approved drug
PPI
The variant affects a protein-protein interaction interface
ODP
Number of other damage predictors that predict the mutation as damaging: SIFT, Polyphen2_HDIV, Polyphen2_HVAR, MutationTaster, MutationAssessor, FATHMM, VEST3, and CADD
KM Pred.
KinMutRF prediction
KM Score
KinMutRF prediction score. The closer to 1 in absolute value the higher the confidence
Kinase Variant KG CV #CS FL MR MUT DT PPI ODP KM Pred. KM Score
O60674 (JAK2) D584E Tyr No 0 (2) No (1) No (0) No (0) No No NA neutral -0.889 View details
P00533 (EGFR) T790M Tyr No 300 (29) Yes (3) No (0) No (0) Yes Yes NA neutral -0.848 View details
P00533 (EGFR) G719A Tyr Yes 131 (27) Yes (5) No (0) No (0) Yes Yes NA neutral -0.807 View details
P07949 (RET) A883F Tyr No 5 (3) No (4) No (2) Yes (12) Yes Yes NA disease 0.846 View details
P21802 (FGFR2) S252W Tyr Yes 48 (3) No (0) No (0) No (0) No Yes NA disease 0.962 View details
P22607 (FGFR3) P250R Tyr Yes 0 (1556) No (0) No (0) No (0) No Yes NA disease 0.962 View details

* Kinase Group: Classification of the human kinome according to Manning et al. , 2002.

Download result (TSV)
Additional files for download
features
Features used by the wKinMut-2 Random Forest model
fixed
Fixed input, translated and filtered for kinase variants
pre_fixed
Description
translations
Correspondance between provided variants and fixed variants
Appris
Annotation of variants overlapping Appris annotated residues
Appris_neighbours
Annotation of variants close to Appris annotated residues
COSMIC
Annotation of COSMIC samples with mutations overlapping the variant residue
COSMIC_neighbours
Annotation of COSMIC samples with mutations close to the variant residue
COSMIC_resistance_mutations
Description
COSMIC_resistance_mutations_neighbours
Description
InterPro
Annotation of variants overlapping InterPro domains
InterPro_neighbours
Annotation of variants close to InterPro domains
UniProt
Annotation of variants overlapping UniProt annotated residues
UniProt_neighbours
Annotation of variants close to UniProt annotated residues
dbNSFP
Annotation of variants with dbNSFP (damage predictions)
interfaces
Annotation of variants overlapping PPI surfaces