Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
LMNA | P02545 | lamin A/C | 1.00 | 0.384 | 0.885 | |
FGFR1 | P11362 | fibroblast growth factor receptor 1 | Kinase | 1.00 | 0.362 | 0.885 |
FBN1 | P35555 | fibrillin 1 | Calcium-binding protein | 1.00 | 0.417 | 0.846 |
COL2A1 | P02458 | collagen type II alpha 1 chain | 1.00 | 0.444 | 0.846 | |
FGFR3 | P22607 | fibroblast growth factor receptor 3 | Kinase | 1.6E-05 | 0.391 | 0.846 |
CHD7 | Q9P2D1 | chromodomain helicase DNA binding protein 7 | 1.00 | 0.441 | 0.846 | |
POLG | P54098 | DNA polymerase gamma, catalytic subunit | Enzyme | 2.1E-09 | 0.457 | 0.846 |
PTCH1 | Q13635 | patched 1 | 1.00 | 0.398 | 0.885 | |
ELN | P15502 | elastin | 2.1E-14 | 0.415 | 0.885 | |
HLA-B | P01889 | major histocompatibility complex, class I, B | 3.9E-05 | 0.379 | 0.885 | |
GNAS | O95467 P63092 P84996 Q5JWF2 | GNAS complex locus | Enzyme modulator | 0.68 | 0.420 | 0.885 |
ATXN2 | Q99700 | ataxin 2 | Nucleic acid binding | 0.85 | 0.482 | 0.808 |
GLI3 | P10071 | GLI family zinc finger 3 | 1.00 | 0.436 | 0.846 | |
SUFU | Q9UMX1 | SUFU negative regulator of hedgehog signaling | 1.00 | 0.493 | 0.769 | |
KMT2A | Q03164 | lysine methyltransferase 2A | 1.00 | 0.410 | 0.885 | |
POLR3A | O14802 | RNA polymerase III subunit A | Enzyme | 1.3E-23 | 0.538 | 0.769 |
CTNNB1 | P35222 | catenin beta 1 | 1.00 | 0.303 | 0.885 | |
AKT1 | P31749 | AKT serine/threonine kinase 1 | Kinase | 0.98 | 0.311 | 0.962 |
APC | P25054 | APC regulator of WNT signaling pathway | 1.00 | 0.373 | 0.962 | |
FLNB | O75369 | filamin B | 6.1E-10 | 0.458 | 0.923 | |
GTF2IRD1 | Q9UHL9 | GTF2I repeat domain containing 1 | 0.90 | 0.522 | 0.769 | |
TRPS1 | Q9UHF7 | transcriptional repressor GATA binding 1 | 1.00 | 0.537 | 0.769 | |
GDF5 | P43026 | growth differentiation factor 5 | Signaling | 0.67 | 0.511 | 0.692 |
SKI | P12755 | SKI proto-oncogene | 1.00 | 0.503 | 0.808 | |
NIPBL | Q6KC79 | NIPBL cohesin loading factor | Nucleic acid binding | 1.00 | 0.521 | 0.808 |