Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
PPOX P50336 protoporphyrinogen oxidase 2.8E-02 0.678 0.500
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769