Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | |
FBN1 | P35555 | fibrillin 1 | Calcium-binding protein | 1.00 | 0.417 | 0.846 |
ELN | P15502 | elastin | 2.1E-14 | 0.415 | 0.885 | |
COL2A1 | P02458 | collagen type II alpha 1 chain | 1.00 | 0.444 | 0.846 | |
COL1A1 | P02452 | collagen type I alpha 1 chain | 1.00 | 0.430 | 0.808 | |
CHD7 | Q9P2D1 | chromodomain helicase DNA binding protein 7 | 1.00 | 0.441 | 0.846 | |
NOTCH3 | Q9UM47 | notch receptor 3 | 0.41 | 0.435 | 0.808 | |
TBX1 | O43435 | T-box transcription factor 1 | Transcription factor | 0.84 | 0.433 | 0.808 |
ATRX | P46100 | ATRX chromatin remodeler | 1.00 | 0.452 | 0.808 | |
ATP7A | Q04656 | ATPase copper transporting alpha | Transporter | 1.00 | 0.494 | 0.769 |
FMR1 | Q06787 | FMRP translational regulator 1 | Nucleic acid binding | 0.65 | 0.473 | 0.769 |
MED12 | Q93074 | mediator complex subunit 12 | Transcription factor | 1.00 | 0.476 | 0.769 |
ERCC4 | Q92889 | ERCC excision repair 4, endonuclease catalytic subunit | Enzyme | 1.4E-12 | 0.468 | 0.846 |
ATR | Q13535 | ATR serine/threonine kinase | Kinase | 3.5E-09 | 0.456 | 0.923 |
RYR1 | P21817 | ryanodine receptor 1 | Ion channel | 1.6E-29 | 0.489 | 0.808 |
BCOR | Q6W2J9 | BCL6 corepressor | 1.00 | 0.471 | 0.808 | |
TPM3 | P06753 | tropomyosin 3 | Cellular structure | 6.7E-03 | 0.490 | 0.808 |
NHS | Q6T4R5 | NHS actin remodeling regulator | 1.00 | 0.466 | 0.846 | |
LIG4 | P49917 | DNA ligase 4 | 4.2E-06 | 0.478 | 0.846 | |
SLC6A8 | P48029 | solute carrier family 6 member 8 | Transporter | 1.00 | 0.476 | 0.846 |
LIMK1 | P53667 | LIM domain kinase 1 | Kinase | 1.00 | 0.488 | 0.731 |
SMS | P52788 | spermine synthase | 0.97 | 0.491 | 0.846 | |
MYH7 | P12883 | myosin heavy chain 7 | 4.2E-16 | 0.516 | 0.692 | |
PAX3 | P23760 | paired box 3 | 0.24 | 0.481 | 0.769 | |
RECQL4 | O94761 | RecQ like helicase 4 | Enzyme | 3.3E-35 | 0.496 | 0.808 |