Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
POLG | P54098 | DNA polymerase gamma, catalytic subunit | Enzyme | 2.1E-09 | 0.457 | 0.846 |
VCP | P55072 | valosin containing protein | 1.00 | 0.469 | 0.923 | |
TTN | Q8WZ42 | titin | Kinase | 2.6E-96 | 0.470 | 0.885 |
RYR1 | P21817 | ryanodine receptor 1 | Ion channel | 1.6E-29 | 0.489 | 0.808 |
MYH7 | P12883 | myosin heavy chain 7 | 4.2E-16 | 0.516 | 0.692 | |
FKRP | Q9H9S5 | fukutin related protein | 9.8E-06 | 0.513 | 0.731 | |
TWNK | Q96RR1 | twinkle mtDNA helicase | Enzyme | 3.2E-03 | 0.516 | 0.692 |
RRM2B | Q7LG56 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | Enzyme | 2.4E-03 | 0.527 | 0.769 |
SCN4A | P35499 | sodium voltage-gated channel alpha subunit 4 | Ion channel | 1.3E-02 | 0.554 | 0.731 |
PNPLA2 | Q96AD5 | patatin like phospholipase domain containing 2 | Enzyme | 4.1E-03 | 0.511 | 0.846 |
SLC25A4 | P12235 | solute carrier family 25 member 4 | Transporter | 0.45 | 0.568 | 0.692 |
POLG2 | Q9UHN1 | DNA polymerase gamma 2, accessory subunit | Enzyme | 1.5E-10 | 0.558 | 0.769 |
LRP4 | O75096 | LDL receptor related protein 4 | 1.4E-06 | 0.568 | 0.692 | |
MUSK | O15146 | muscle associated receptor tyrosine kinase | Kinase | 4.2E-08 | 0.570 | 0.769 |
DYSF | O75923 | dysferlin | Transporter | 3.7E-33 | 0.582 | 0.692 |
COL13A1 | Q5TAT6 | collagen type XIII alpha 1 chain | 3.7E-14 | 0.608 | 0.654 | |
CAPN3 | P20807 | calpain 3 | Enzyme | 3.6E-19 | 0.564 | 0.615 |
AGRN | O00468 | agrin | 5.5E-07 | 0.626 | 0.538 | |
RAPSN | Q13702 | receptor associated protein of the synapse | 1.5E-03 | 0.593 | 0.731 | |
GNE | Q9Y223 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Enzyme | 2.5E-16 | 0.610 | 0.692 |
TRIM32 | Q13049 | tripartite motif containing 32 | 1.7E-03 | 0.587 | 0.769 | |
TTN-AS1 | TTN antisense RNA 1 | 0.599 | 0.577 | |||
ANO5 | Q75V66 | anoctamin 5 | 2.9E-22 | 0.619 | 0.538 | |
CHRNA1 | P02708 | cholinergic receptor nicotinic alpha 1 subunit | Ion channel | 2.1E-08 | 0.615 | 0.577 |
DOK7 | Q18PE1 | docking protein 7 | 1.0E-04 | 0.615 | 0.615 |