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 | |
MECP2 | P51608 | methyl-CpG binding protein 2 | Epigenetic regulator | 0.89 | 0.414 | 0.846 |
SCN8A | Q9UQD0 | sodium voltage-gated channel alpha subunit 8 | Ion channel | 1.00 | 0.510 | 0.731 |
FGFR2 | P21802 | fibroblast growth factor receptor 2 | Kinase | 1.00 | 0.380 | 0.808 |
COL6A1 | P12109 | collagen type VI alpha 1 chain | Receptor | 1.00 | 0.587 | 0.731 |
DYNC1H1 | Q14204 | dynein cytoplasmic 1 heavy chain 1 | Enzyme | 1.00 | 0.547 | 0.769 |
SYNGAP1 | Q96PV0 | synaptic Ras GTPase activating protein 1 | Enzyme modulator | 1.00 | 0.584 | 0.577 |
GRIN2B | Q13224 | glutamate ionotropic receptor NMDA type subunit 2B | Ion channel | 1.00 | 0.510 | 0.692 |
RPS6KA3 | P51812 | ribosomal protein S6 kinase A3 | Kinase | 1.00 | 0.491 | 0.846 |
RIT1 | Q92963 | Ras like without CAAX 1 | Enzyme modulator | 0.13 | 0.527 | 0.808 |
DMD | P11532 | dystrophin | 1.00 | 0.423 | 0.923 | |
QRICH1 | Q2TAL8 | glutamine rich 1 | Enzyme modulator | 1.00 | 0.716 | 0.423 |
GBA | P04062 | glucosylceramidase beta | 1.4E-06 | 0.500 | 0.808 | |
MED13L | Q71F56 | mediator complex subunit 13L | 1.00 | 0.617 | 0.538 | |
BBS1 | Q8NFJ9 | Bardet-Biedl syndrome 1 | 3.4E-12 | 0.593 | 0.692 | |
ZDHHC24 | Q6UX98 | zinc finger DHHC-type containing 24 | 4.2E-04 | 0.722 | 0.462 | |
VPS13B | Q7Z7G8 | vacuolar protein sorting 13 homolog B | 2.5E-45 | 0.579 | 0.769 | |
DES | P17661 | desmin | 8.8E-03 | 0.460 | 0.846 | |
PRR12 | Q9ULL5 | proline rich 12 | 1.00 | 0.716 | 0.385 | |
CYP27A1 | Q02318 | cytochrome P450 family 27 subfamily A member 1 | Enzyme | 5.3E-19 | 0.538 | 0.731 |
CSTB | P04080 | cystatin B | Enzyme modulator | 6.6E-03 | 0.530 | 0.692 |
GAA | P10253 | glucosidase alpha, acid | Enzyme | 2.8E-18 | 0.631 | 0.577 |
SURF1 | Q15526 | SURF1 cytochrome c oxidase assembly factor | Enzyme | 1.6E-13 | 0.578 | 0.654 |
FA2H | Q7L5A8 | fatty acid 2-hydroxylase | Enzyme | 0.15 | 0.573 | 0.654 |
EARS2 | Q5JPH6 | glutamyl-tRNA synthetase 2, mitochondrial | Enzyme | 1.1E-08 | 0.666 | 0.538 |