Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PHOX2A O14813 paired like homeobox 2A 0.49 0.700 0.346
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
KDM1A O60341 lysine demethylase 1A Epigenetic regulator 1.00 0.512 0.808
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
TGFB3 P10600 transforming growth factor beta 3 Signaling 0.99 0.498 0.808
MYF5 P13349 myogenic factor 5 Transcription factor 2.3E-04 0.686 0.423
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
DES P17661 desmin 8.8E-03 0.460 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
ATF6 P18850 activating transcription factor 6 3.2E-07 0.516 0.846
GNAT2 P19087 G protein subunit alpha transducin 2 Enzyme modulator 7.0E-06 0.674 0.231
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
NES P48681 nestin 1.6E-06 0.450 0.808