Filter in search result
Please select a valid state.

Total number of protein in "GO:0030324" GO term:  80

Identifier UniProt Gene UniProt Accession UniProt Name Chromosome GO term Database Cancer Driver Number of missense mutations Missense mutation per residues Number of disordered residues Number of mutations in disordered regions Disordered missense mutations per residues Number of OMIM mutation
ABCA3-201 ABCA3 Q99758 Phospholipid-transporting ATPase ABCA3 chr16 GO:0030324 Not Cancer Driver No 168 0.0985915492957746 77 4 0.0023474178403755 13
ACVR2B-201 ACVR2B Q13705 Activin receptor type-2B chr3 GO:0030324 Not Cancer Driver No 55 0.107421875 70 11 0.021484375 2
ADAMTS2-201 ADAMTS2 O95450 A disintegrin and metalloproteinase with thrombospondin motifs 2 chr5 GO:0030324 Not Cancer Driver No 237 0.1957060280759702 306 67 0.0553261767134599 0
ALDH1A2-201 ALDH1A2 O94788 Retinal dehydrogenase 2 chr15 GO:0030324 Not Cancer Driver No 72 0.138996138996139 56 12 0.0231660231660231 3
ANXA2-204 ANXA2 P07355 Annexin A2 chr15 GO:0030324 Not Cancer Driver No 38 0.1120943952802359 21 2 0.0058997050147492 0
BAG6-237 BAG6 P46379 Large proline-rich protein BAG6 chr6 GO:0030324 Not Cancer Driver No 73 0.0648312611012433 856 59 0.0523978685612788 0
BMPR1A-201 BMPR1A P36894 Bone morphogenetic protein receptor type-1A chr10 GO:0030324 Census, Compendium Yes 37 0.0695488721804511 21 0 0.0 8
CCBE1-201 CCBE1 Q6UXH8 Collagen and calcium-binding EGF domain-containing protein 1 chr18 GO:0030324 Not Cancer Driver No 73 0.1798029556650246 227 49 0.1206896551724138 5
CCDC39-202 CCDC39 Q9UFE4 Coiled-coil domain-containing protein 39 chr3 GO:0030324 Not Cancer Driver No 156 0.1657810839532412 498 64 0.0680127523910733 0
CCDC40-204 CCDC40 Q4G0X9 Coiled-coil domain-containing protein 40 chr17 GO:0030324 Not Cancer Driver No 144 0.1260945709281961 675 90 0.0788091068301225 0
CCN2-201 CCN2 P29279 CCN family member 2 chr6 GO:0030324 Not Cancer Driver No 37 0.1060171919770773 0 0 0.0 0
CEBPA-201 CEBPA P49715 CCAAT/enhancer-binding protein alpha chr19 GO:0030324 Census, Compendium Yes 10 0.0279329608938547 343 10 0.0279329608938547 1
CHI3L1-201 CHI3L1 P36222 Chitinase-3-like protein 1 chr1 GO:0030324 Not Cancer Driver No 48 0.1253263707571801 24 4 0.010443864229765 0
CLCN2-201 CLCN2 P51788 Chloride channel protein 2 chr3 GO:0030324 Not Cancer Driver No 102 0.1135857461024498 225 30 0.0334075723830735 8
COL3A1-201 COL3A1 P02461 Collagen alpha-1(III) chain chr2 GO:0030324 Census Yes 49 0.0334242837653478 1183 6 0.0040927694406548 86
CRH-201 CRH P06850 Corticoliberin chr8 GO:0030324 Not Cancer Driver No 9 0.0459183673469387 131 9 0.0459183673469387 0
CRISPLD2-201 CRISPLD2 Q9H0B8 Cysteine-rich secretory protein LCCL domain-containing 2 chr16 GO:0030324 Not Cancer Driver No 37 0.0744466800804829 80 6 0.0120724346076458 0
CYP1A2-201 CYP1A2 P05177 Cytochrome P450 1A2 chr15 GO:0030324 Not Cancer Driver No 75 0.1453488372093023 23 2 0.003875968992248 0
DNAAF1-201 DNAAF1 Q8NEP3 Dynein axonemal assembly factor 1 chr16 GO:0030324 Not Cancer Driver No 81 0.1117241379310344 525 60 0.0827586206896551 1
EGFR-201 EGFR P00533 Epidermal growth factor receptor chr7 GO:0030324 Census, Compendium Yes 346 0.2859504132231405 223 30 0.024793388429752 1
EIF4G1-202 EIF4G1 Q04637 Eukaryotic translation initiation factor 4 gamma 1 chr3 GO:0030324 Not Cancer Driver No 157 0.0981863664790494 1080 103 0.0644152595372107 2
ELK1-203 ELK1 P19419 ETS domain-containing protein Elk-1 chrX GO:0030324 Not Cancer Driver No 39 0.0911214953271028 329 26 0.0607476635514018 0
EP300-201 EP300 Q09472 Histone acetyltransferase p300 chr22 GO:0030324 Census, Compendium Yes 203 0.084092792046396 1792 84 0.0347970173985087 1
EPAS1-201 EPAS1 Q99814 Endothelial PAS domain-containing protein 1 chr2 GO:0030324 Census, Compendium Yes 109 0.125287356321839 451 54 0.0620689655172413 4
FBXW7-201 FBXW7 Q969H0 F-box/WD repeat-containing protein 7 chr4 GO:0030324 Census, Compendium Yes 289 0.4087694483734088 232 15 0.0212164073550212 17
FGF1-201 FGF1 P05230 Fibroblast growth factor 1 chr5 GO:0030324 Not Cancer Driver No 21 0.1354838709677419 29 2 0.0129032258064516 0
FGF18-201 FGF18 O76093 Fibroblast growth factor 18 chr5 GO:0030324 Not Cancer Driver No 29 0.1400966183574879 57 8 0.038647342995169 0
FGF2-201 FGF2 P09038 Fibroblast growth factor 2 chr4 GO:0030324 Not Cancer Driver No 17 0.0590277777777777 183 5 0.0173611111111111 0
FGF7-201 FGF7 P21781 Fibroblast growth factor 7 chr15 GO:0030324 Not Cancer Driver No 26 0.134020618556701 22 4 0.0206185567010309 0
FGF9-201 FGF9 P31371 Fibroblast growth factor 9 chr13 GO:0030324 Not Cancer Driver No 33 0.1586538461538461 43 8 0.0384615384615384 1
FGFR2-206 FGFR2 P21802 Fibroblast growth factor receptor 2 chr10 GO:0030324 Census, Compendium Yes 193 0.2350791717417783 229 34 0.0414129110840438 57
FOXF1-201 FOXF1 Q12946 Forkhead box protein F1 chr16 GO:0030324 Not Cancer Driver No 43 0.1134564643799472 196 16 0.0422163588390501 16
GLI1-201 GLI1 P08151 Zinc finger protein GLI1 chr12 GO:0030324 Census, Compendium Yes 156 0.1410488245931284 1018 138 0.1247739602169981 0
GLI2-209 GLI2 P10070 Zinc finger protein GLI2 chr2 GO:0030324 Not Cancer Driver No 235 0.148171500630517 1407 200 0.1261034047919293 2
GLI3-201 GLI3 P10071 Transcriptional activator GLI3 chr7 GO:0030324 Not Cancer Driver No 308 0.1949367088607595 1362 270 0.170886075949367 7
GPC3-201 GPC3 P51654 Glypican-3 chrX GO:0030324 Census Yes 55 0.0948275862068965 87 7 0.0120689655172413 1
HEG1-201 HEG1 Q9ULI3 Protein HEG homolog 1 chr3 GO:0030324 Not Cancer Driver No 119 0.0861694424330195 985 97 0.0702389572773352 0
HES1-201 HES1 Q14469 Transcription factor HES-1 chr3 GO:0030324 Not Cancer Driver No 35 0.125 227 30 0.1071428571428571 0
HIKESHI-201 HIKESHI Q53FT3 Protein Hikeshi chr11 GO:0030324 Not Cancer Driver No 16 0.0812182741116751 2 0 0.0 1
HMGCS2-201 HMGCS2 P54868 Hydroxymethylglutaryl-CoA synthase, mitochondrial chr1 GO:0030324 Not Cancer Driver No 65 0.1279527559055118 29 2 0.0039370078740157 19
HSD11B1-202 HSD11B1 P28845 11-beta-hydroxysteroid dehydrogenase 1 chr1 GO:0030324 Not Cancer Driver No 43 0.1472602739726027 0 0 0.0 0
IFT25-201 IFT25 Q9Y547 Intraflagellar transport protein 25 homolog chr1 GO:0030324 Not Cancer Driver No 13 0.0902777777777777 27 2 0.0138888888888888 0
ITGA3-202 ITGA3 P26006 Integrin alpha-3 chr17 GO:0030324 Not Cancer Driver No 80 0.0761179828734538 129 15 0.0142721217887725 3
JMJD6-202 JMJD6 Q6NYC1 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 chr17 GO:0030324 Not Cancer Driver No 42 0.1042183622828784 133 18 0.0446650124069478 0
LAMA5-201 LAMA5 O15230 Laminin subunit alpha-5 chr20 GO:0030324 Not Cancer Driver No 354 0.0958051420838971 708 62 0.0167794316644113 1
LHX3-202 LHX3 Q9UBR4 LIM/homeobox protein Lhx3 chr9 GO:0030324 Not Cancer Driver No 28 0.070528967254408 232 10 0.0251889168765743 2
LIPA-202 LIPA P38571 Lysosomal acid lipase/cholesteryl ester hydrolase chr10 GO:0030324 Not Cancer Driver No 30 0.075187969924812 13 1 0.0025062656641604 3
LOX-201 LOX P28300 Protein-lysine 6-oxidase chr5 GO:0030324 Compendium Yes 31 0.0743405275779376 172 8 0.0191846522781774 4
LOXL3-201 LOXL3 P58215 Lysyl oxidase homolog 3 chr2 GO:0030324 Not Cancer Driver No 73 0.096945551128818 86 16 0.0212483399734395 0
MME-201 MME P08473 Neprilysin chr3 GO:0030324 Not Cancer Driver No 156 0.208 40 17 0.0226666666666666 4
MMP14-201 MMP14 P50281 Matrix metalloproteinase-14 chr14 GO:0030324 Not Cancer Driver No 50 0.0859106529209622 120 6 0.0103092783505154 1
NKX2-1-203 NKX2-1 P43699 Homeobox protein Nkx-2.1 chr14 GO:0030324 Census, Compendium Yes 34 0.091644204851752 336 32 0.0862533692722372 6
NKX2-8-201 NKX2-8 O15522 Homeobox protein Nkx-2.8 chr14 GO:0030324 Not Cancer Driver No 13 0.0543933054393305 163 13 0.0543933054393305 0
NOS3-201 NOS3 P29474 Nitric oxide synthase 3 chr7 GO:0030324 Not Cancer Driver No 143 0.1188694929343308 349 30 0.0249376558603491 0
NOTCH1-204 NOTCH1 P46531 Neurogenic locus notch homolog protein 1 chr9 GO:0030324 Census, Compendium Yes 312 0.1221135029354207 690 71 0.0277886497064579 3
NPHP3-201 NPHP3 Q7Z494 Nephrocystin-3 chr3 GO:0030324 Not Cancer Driver No 89 0.0669172932330827 250 24 0.0180451127819548 7
ODAD4-201 ODAD4 Q96NG3 Outer dynein arm-docking complex subunit 4 chr17 GO:0030324 Not Cancer Driver No 0 0.0 264 0 0.0 0
PDGFRA-201 PDGFRA P16234 Platelet-derived growth factor receptor alpha chr4 GO:0030324 Census, Compendium Yes 213 0.1955922865013774 173 36 0.0330578512396694 2
PDPN-211 PDPN Q86YL7 Podoplanin chr1 GO:0030324 Not Cancer Driver No 30 0.1851851851851851 97 21 0.1296296296296296 0
PHEX-201 PHEX P78562 Phosphate-regulating neutral endopeptidase PHEX chrX GO:0030324 Not Cancer Driver No 100 0.1335113484646194 56 4 0.0053404539385847 27
PPP1CA-203 PPP1CA P62136 Serine/threonine-protein phosphatase PP1-alpha catalytic subunit chr11 GO:0030324 Not Cancer Driver No 31 0.0939393939393939 27 6 0.0181818181818181 0
PROX1-201 PROX1 Q92786 Prospero homeobox protein 1 chr1 GO:0030324 Not Cancer Driver No 151 0.2048846675712347 539 116 0.1573948439620081 0
RAB3A-201 RAB3A P20336 Ras-related protein Rab-3A chr19 GO:0030324 Not Cancer Driver No 19 0.0863636363636363 43 3 0.0136363636363636 0
RBP4-201 RBP4 P02753 Retinol-binding protein 4 chr10 GO:0030324 Not Cancer Driver No 25 0.1243781094527363 8 0 0.0 4
SHH-201 SHH Q15465 Sonic hedgehog protein chr7 GO:0030324 Not Cancer Driver No 36 0.0779220779220779 139 11 0.0238095238095238 69
SIM2-201 SIM2 Q14190 Single-minded homolog 2 chr21 GO:0030324 Not Cancer Driver No 48 0.0719640179910044 262 9 0.0134932533733133 0
SLC23A1-201 SLC23A1 Q9UHI7 Solute carrier family 23 member 1 chr5 GO:0030324 Not Cancer Driver No 53 0.088628762541806 47 4 0.0066889632107023 0
SMAD2-201 SMAD2 Q15796 Mothers against decapentaplegic homolog 2 chr18 GO:0030324 Census, Compendium Yes 58 0.1241970021413276 137 11 0.0235546038543897 3
SP3-201 SP3 Q02447 Transcription factor Sp3 chr2 GO:0030324 Not Cancer Driver No 50 0.0640204865556978 588 34 0.0435339308578745 0
SREBF1-201 SREBF1 P36956 Sterol regulatory element-binding protein 1 chr17 GO:0030324 Not Cancer Driver No 87 0.075850043591979 530 42 0.036617262423714 3
STRA6-202 STRA6 Q9BX79 Receptor for retinol uptake STRA6 chr15 GO:0030324 Not Cancer Driver No 62 0.0929535232383808 84 13 0.0194902548725637 6
TAB1-201 TAB1 Q15750 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 chr22 GO:0030324 Not Cancer Driver No 62 0.123015873015873 233 23 0.0456349206349206 0
TBX4-201 TBX4 P57082 T-box transcription factor TBX4 chr17 GO:0030324 Not Cancer Driver No 77 0.1412844036697247 315 49 0.0899082568807339 2
TBX5-203 TBX5 Q99593 T-box transcription factor TBX5 chr12 GO:0030324 Not Cancer Driver No 125 0.2413127413127413 351 89 0.1718146718146718 8
TIMELESS-203 TIMELESS Q9UNS1 Protein timeless homolog chr12 GO:0030324 Not Cancer Driver No 127 0.1051324503311258 371 44 0.0364238410596026 0
VEGFA-226 VEGFA P15692 Vascular endothelial growth factor A, long form chr6 GO:0030324 Not Cancer Driver No 24 0.060759493670886 215 9 0.0227848101265822 0
WNT5A-201 WNT5A P41221 Protein Wnt-5a chr3 GO:0030324 Not Cancer Driver No 42 0.1105263157894736 0 0 0.0 2
WNT7B-201 WNT7B P56706 Protein Wnt-7b chr22 GO:0030324 Not Cancer Driver No 41 0.1174785100286533 11 1 0.0028653295128939 0
ZFPM2-201 ZFPM2 Q8WW38 Zinc finger protein ZFPM2 chr8 GO:0030324 Not Cancer Driver No 310 0.2693310165073849 660 195 0.1694178974804517 8
ZIC3-201 ZIC3 O60481 Zinc finger protein ZIC 3 chrX GO:0030324 Not Cancer Driver No 69 0.1477516059957173 327 47 0.1006423982869379 10