Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
MYCNOS P40205 MYCN opposite strand 0.700 0.462
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTCH2 Q9Y6C5 patched 2 3.4E-16 0.563 0.692
SF3B2 Q13435 splicing factor 3b subunit 2 1.00 0.780 0.308
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808