Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) 5.9E-03 0.861 0.154
TMEM256 Q8N2U0 transmembrane protein 256 Enzyme 6.1E-04 0.861 0.154