Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
PANK2 Q9BZ23 pantothenate kinase 2 Kinase 7.4E-07 0.559 0.808