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Total number of protein in "GO:0048871" GO term:  132

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
ABCA12 ABCA12 Q86UK0 Glucosylceramide transporter ABCA12 chr2 GO:0048871 Not Cancer Driver No 511 0.197 136 23 0.169 14
ACACB_ENST00000377848 ACACB O00763 Acetyl-CoA carboxylase 2 chr12 GO:0048871 Not Cancer Driver No 388 0.158 342 62 0.181 0
ACADL ACADL P28330 Long-chain specific acyl-CoA dehydrogenase, mitochondrial chr2 GO:0048871 Not Cancer Driver No 63 0.147 51 3 0.059 0
ACADVL_ENST00000356839 ACADVL P49748 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial chr17 GO:0048871 Not Cancer Driver No 50 0.076 100 5 0.05 37
ACER1 ACER1 Q8TDN7 Alkaline ceramidase 1 chr19 GO:0048871 Not Cancer Driver No 54 0.205 0 0 0.0 0
ADCY6 ADCY6 O43306 Adenylate cyclase type 6 chr12 GO:0048871 Not Cancer Driver No 144 0.123 147 17 0.116 1
ADORA1 ADORA1 P30542 Adenosine receptor A1 chr1 GO:0048871 Not Cancer Driver No 64 0.196 12 4 0.333 0
ADRB1 ADRB1 P08588 Beta-1 adrenergic receptor chr10 GO:0048871 Not Cancer Driver No 35 0.073 116 1 0.009 0
ADRB2 ADRB2 P07550 Beta-2 adrenergic receptor chr5 GO:0048871 Not Cancer Driver No 52 0.126 35 4 0.114 0
AKAP11 AKAP11 Q9UKA4 A-kinase anchor protein 11 chr13 GO:0048871 Not Cancer Driver No 196 0.103 922 91 0.099 0
AKR1B1 AKR1B1 P15121 Aldo-keto reductase family 1 member B1 chr7 GO:0048871 Not Cancer Driver No 52 0.165 19 1 0.053 0
ALK ALK Q9UM73 ALK tyrosine kinase receptor chr2 GO:0048871 Census, Compendium Yes 303 0.187 575 114 0.198 16
ALOX12 ALOX12 P18054 Polyunsaturated fatty acid lipoxygenase ALOX12 chr17 GO:0048871 Not Cancer Driver No 73 0.11 73 12 0.164 0
ALOX12B ALOX12B O75342 Arachidonate 12-lipoxygenase, 12R-type chr17 GO:0048871 Not Cancer Driver No 101 0.144 16 3 0.188 18
ALOXE3_ENST00000448843 ALOXE3 Q9BYJ1 Hydroperoxide isomerase ALOXE3 chr17 GO:0048871 Not Cancer Driver No 108 0.152 69 13 0.188 6
AMPD2_ENST00000528667 AMPD2 Q01433 AMP deaminase 2 chr1 GO:0048871 Not Cancer Driver No 93 0.106 275 27 0.098 3
AQP1 AQP1 P29972 Aquaporin-1 chr7 GO:0048871 Not Cancer Driver No 39 0.145 4 1 0.25 0
AQP2 AQP2 P41181 Aquaporin-2 chr12 GO:0048871 Not Cancer Driver No 52 0.192 31 3 0.097 28
AQP3 AQP3 Q92482 Aquaporin-3 chr9 GO:0048871 Not Cancer Driver No 34 0.116 12 0 0.0 0
AQP4 AQP4 P55087 Aquaporin-4 chr18 GO:0048871 Not Cancer Driver No 50 0.155 30 9 0.3 0
ARRDC3 ARRDC3 Q96B67 Arrestin domain-containing protein 3 chr5 GO:0048871 Not Cancer Driver No 52 0.126 95 12 0.126 0
ATP6V1B1 ATP6V1B1 P15313 V-type proton ATPase subunit B, kidney isoform chr2 GO:0048871 Not Cancer Driver No 77 0.15 66 14 0.212 9
AVP AVP P01185 Vasopressin-neurophysin 2-copeptin chr20 GO:0048871 Not Cancer Driver No 14 0.085 26 0 0.0 39
BMP6 BMP6 P22004 Bone morphogenetic protein 6 chr6 GO:0048871 Not Cancer Driver No 95 0.185 226 51 0.226 0
BMP8A BMP8A Q7Z5Y6 Bone morphogenetic protein 8A chr1 GO:0048871 Not Cancer Driver No 26 0.065 93 2 0.022 0
BPIFA1_ENST00000375413 BPIFA1 Q9NP55 BPI fold-containing family A member 1 chr20 GO:0048871 Not Cancer Driver No 54 0.211 0 0 0.0 0
BTBD9 BTBD9 Q96Q07 BTB/POZ domain-containing protein 9 chr6 GO:0048871 Not Cancer Driver No 84 0.137 66 6 0.091 0
CD36_ENST00000309881 CD36 P16671 Platelet glycoprotein 4 chr7 GO:0048871 Not Cancer Driver No 75 0.159 12 3 0.25 3
CFTR CFTR P13569 Cystic fibrosis transmembrane conductance regulator chr7 GO:0048871 Not Cancer Driver No 287 0.194 145 18 0.124 151
CIDEA CIDEA O60543 Cell death activator CIDE-A chr18 GO:0048871 Not Cancer Driver No 43 0.196 32 3 0.094 0
CLDN1 CLDN1 O95832 Claudin-1 chr3 GO:0048871 Not Cancer Driver No 31 0.147 16 3 0.188 0
CLDN4 CLDN4 O14493 Claudin-4 chr7 GO:0048871 Not Cancer Driver No 40 0.191 0 0 0.0 0
CRTC1_ENST00000321949 CRTC1 Q6UUV9 CREB-regulated transcription coactivator 1 chr19 GO:0048871 Census, Compendium Yes 63 0.099 606 62 0.102 0
CRTC3 CRTC3 Q6UUV7 CREB-regulated transcription coactivator 3 chr15 GO:0048871 Census Yes 70 0.113 608 68 0.112 0
CYP11B2 CYP11B2 P19099 Cytochrome P450 11B2, mitochondrial chr8 GO:0048871 Not Cancer Driver No 148 0.294 6 0 0.0 6
CYP26B1 CYP26B1 Q9NR63 Cytochrome P450 26B1 chr2 GO:0048871 Not Cancer Driver No 113 0.221 10 3 0.3 2
CYP4A11 CYP4A11 Q02928 Cytochrome P450 4A11 chr1 GO:0048871 Not Cancer Driver No 131 0.252 24 8 0.333 0
CYP4F12_ENST00000324632 CYP4F12 Q9HCS2 Cytochrome P450 4F12 chr19 GO:0048871 Not Cancer Driver No 138 0.263 18 4 0.222 0
CYP4F2 CYP4F2 P78329 Cytochrome P450 4F2 chr19 GO:0048871 Not Cancer Driver No 136 0.262 17 3 0.176 0
DBH DBH P09172 Dopamine beta-hydroxylase chr9 GO:0048871 Not Cancer Driver No 125 0.203 71 17 0.239 3
DLL1 DLL1 O00548 Delta-like protein 1 chr6 GO:0048871 Not Cancer Driver No 115 0.159 145 24 0.166 1
DRD1 DRD1 P21728 D(1A) dopamine receptor chr5 GO:0048871 Not Cancer Driver No 73 0.164 30 4 0.133 0
DRD2_ENST00000542968 DRD2 P14416 D(2) dopamine receptor chr11 GO:0048871 Not Cancer Driver No 127 0.287 124 45 0.363 0
EDN2 EDN2 P20800 Endothelin-2 chr1 GO:0048871 Not Cancer Driver No 21 0.118 87 13 0.149 0
EGR1 EGR1 P18146 Early growth response protein 1 chr5 GO:0048871 Not Cancer Driver No 78 0.144 501 72 0.144 0
EIF4G1_ENST00000346169 EIF4G1 Q04637 Eukaryotic translation initiation factor 4 gamma 1 chr3 GO:0048871 Not Cancer Driver No 229 0.143 1079 153 0.142 2
ELOVL1_ENST00000372458 ELOVL1 Q9BW60 Elongation of very long chain fatty acids protein 1 chr1 GO:0048871 Not Cancer Driver No 32 0.115 0 0 0.0 1
EXT1 EXT1 Q16394 Exostosin-1 chr8 GO:0048871 Census Yes 107 0.143 58 7 0.121 12
EXT2_ENST00000533608 EXT2 Q93063 Exostosin-2 chr11 GO:0048871 Census, Compendium Yes 93 0.13 12 1 0.083 9
FA2H FA2H Q7L5A8 Fatty acid 2-hydroxylase chr16 GO:0048871 Not Cancer Driver No 33 0.089 73 0 0.0 3
FLCN FLCN Q8NFG4 Folliculin chr17 GO:0048871 Census, Compendium Yes 59 0.102 157 19 0.121 5
FLG FLG P20930 Filaggrin chr1 GO:0048871 Not Cancer Driver No 1612 0.397 3956 1593 0.403 0
FLG2 FLG2 Q5D862 Filaggrin-2 chr1 GO:0048871 Not Cancer Driver No 613 0.256 2252 577 0.256 0
FOXO1 FOXO1 Q12778 Forkhead box protein O1 chr13 GO:0048871 Census, Compendium Yes 81 0.124 584 75 0.128 0
FTO FTO Q9C0B1 Alpha-ketoglutarate-dependent dioxygenase FTO chr16 GO:0048871 Not Cancer Driver No 67 0.133 53 10 0.189 3
GBA_ENST00000368373 GBA P04062 Lysosomal acid glucosylceramidase chr1 GO:0048871 Not Cancer Driver No 74 0.138 38 5 0.132 171
GPX1_ENST00000620890 GPX1 P07203 Glutathione peroxidase 1 chr3 GO:0048871 Not Cancer Driver No 38 0.187 12 1 0.083 0
GRHL1 GRHL1 Q9NZI5 Grainyhead-like protein 1 homolog chr2 GO:0048871 Not Cancer Driver No 99 0.16 256 36 0.141 0
GRHL3 GRHL3 Q8TE85 Grainyhead-like protein 3 homolog chr1 GO:0048871 Not Cancer Driver No 83 0.133 291 38 0.131 3
HAMP_ENST00000222304 HAMP P81172 Hepcidin chr19 GO:0048871 Not Cancer Driver No 7 0.083 4 0 0.0 4
HCRT HCRT O43612 Orexin chr17 GO:0048871 Not Cancer Driver No 3 0.023 45 0 0.0 1
HFE HFE Q30201 Hereditary hemochromatosis protein chr6 GO:0048871 Not Cancer Driver No 55 0.158 27 2 0.074 11
HRNR HRNR Q86YZ3 Hornerin chr1 GO:0048871 Not Cancer Driver No 612 0.215 2767 601 0.217 0
HTR2A HTR2A P28223 5-hydroxytryptamine receptor 2A chr13 GO:0048871 Not Cancer Driver No 105 0.223 44 8 0.182 0
HYAL2_ENST00000357750 HYAL2 Q12891 Hyaluronidase-2 chr3 GO:0048871 Not Cancer Driver No 52 0.11 8 1 0.125 0
IL1A IL1A P01583 Interleukin-1 alpha chr2 GO:0048871 Not Cancer Driver No 30 0.111 35 6 0.171 0
IL1B IL1B P01584 Interleukin-1 beta chr2 GO:0048871 Not Cancer Driver No 39 0.145 16 3 0.188 0
IRX3 IRX3 P78415 Iroquois-class homeodomain protein IRX-3 chr16 GO:0048871 Not Cancer Driver No 38 0.076 407 32 0.079 0
KDF1 KDF1 Q8NAX2 Keratinocyte differentiation factor 1 chr1 GO:0048871 Not Cancer Driver No 61 0.153 277 50 0.181 0
KRT1 KRT1 P04264 Keratin, type II cytoskeletal 1 chr12 GO:0048871 Not Cancer Driver No 133 0.207 426 98 0.23 20
KRT16 KRT16 P08779 Keratin, type I cytoskeletal 16 chr17 GO:0048871 Not Cancer Driver No 83 0.175 152 28 0.184 16
LEPR LEPR P48357 Leptin receptor chr1 GO:0048871 Not Cancer Driver No 243 0.209 57 11 0.193 0
LSR_ENST00000361790 LSR Q86X29 Lipolysis-stimulated lipoprotein receptor chr19 GO:0048871 Not Cancer Driver No 89 0.137 330 42 0.127 0
MC3R MC3R P41968 Melanocortin receptor 3 chr20 GO:0048871 Not Cancer Driver No 96 0.297 0 0 0.0 0
METRNL METRNL Q641Q3 Meteorin-like protein chr17 GO:0048871 Not Cancer Driver No 26 0.084 88 5 0.057 0
MET_ENST00000397752 MET P08581 Hepatocyte growth factor receptor chr7 GO:0048871 Census, Compendium Yes 226 0.163 62 15 0.242 19
MEX3C MEX3C Q5U5Q3 RNA-binding E3 ubiquitin-protein ligase MEX3C chr18 GO:0048871 Not Cancer Driver No 54 0.082 475 32 0.067 0
MFSD2A MFSD2A Q8NA29 Sodium-dependent lysophosphatidylcholine symporter 1 chr1 GO:0048871 Not Cancer Driver No 61 0.112 36 4 0.111 7
MLXIPL MLXIPL Q9NP71 Carbohydrate-responsive element-binding protein chr7 GO:0048871 Not Cancer Driver No 106 0.124 554 66 0.119 0
MRAP2 MRAP2 Q96G30 Melanocortin-2 receptor accessory protein 2 chr6 GO:0048871 Not Cancer Driver No 55 0.268 75 17 0.227 0
MYO5B MYO5B Q9ULV0 Unconventional myosin-Vb chr18 GO:0048871 Not Cancer Driver No 269 0.146 505 68 0.135 14
NAPEPLD NAPEPLD Q6IQ20 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D chr7 GO:0048871 Not Cancer Driver No 55 0.14 76 7 0.092 0
NDN NDN Q99608 Necdin chr15 GO:0048871 Not Cancer Driver No 123 0.383 117 42 0.359 0
NMU NMU P48645 Neuromedin-U chr4 GO:0048871 Not Cancer Driver No 22 0.126 31 2 0.065 0
NOX3 NOX3 Q9HBY0 NADPH oxidase 3 chr6 GO:0048871 Not Cancer Driver No 118 0.208 3 0 0.0 0
NR1D1 NR1D1 P20393 Nuclear receptor subfamily 1 group D member 1 chr17 GO:0048871 Not Cancer Driver No 81 0.132 348 49 0.141 0
NR1D2 NR1D2 Q14995 Nuclear receptor subfamily 1 group D member 2 chr3 GO:0048871 Not Cancer Driver No 76 0.131 223 25 0.112 0
NR4A3_ENST00000395097 NR4A3 Q92570 Nuclear receptor subfamily 4 group A member 3 chr9 GO:0048871 Census Yes 83 0.133 298 37 0.124 0
NTSR1 NTSR1 P30989 Neurotensin receptor type 1 chr20 GO:0048871 Not Cancer Driver No 85 0.203 23 1 0.043 0
OMA1 OMA1 Q96E52 Metalloendopeptidase OMA1, mitochondrial chr1 GO:0048871 Not Cancer Driver No 52 0.099 34 4 0.118 0
PASK_ENST00000234040 PASK Q96RG2 PAS domain-containing serine/threonine-protein kinase chr2 GO:0048871 Not Cancer Driver No 181 0.137 412 62 0.15 0
PIK3CA PIK3CA P42336 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform chr3 GO:0048871 Census, Compendium Yes 1669 1.563 38 11 0.289 30
PLEC PLEC Q15149 Plectin chr8 GO:0048871 Not Cancer Driver No 677 0.145 2130 272 0.128 2
PM20D1 PM20D1 Q6GTS8 N-fatty-acyl-amino acid synthase/hydrolase PM20D1 chr1 GO:0048871 Not Cancer Driver No 79 0.157 42 10 0.238 0
PPARGC1A PPARGC1A Q9UBK2 Peroxisome proliferator-activated receptor gamma coactivator 1-alpha chr4 GO:0048871 Not Cancer Driver No 181 0.227 609 148 0.243 0
PPP1R13L_ENST00000360957 PPP1R13L Q8WUF5 RelA-associated inhibitor chr19 GO:0048871 Not Cancer Driver No 117 0.141 657 90 0.137 0
PRCP_ENST00000313010 PRCP P42785 Lysosomal Pro-X carboxypeptidase chr11 GO:0048871 Not Cancer Driver No 58 0.117 0 0 0.0 0
PRKAA1_ENST00000397128 PRKAA1 Q13131 5'-AMP-activated protein kinase catalytic subunit alpha-1 chr5 GO:0048871 Not Cancer Driver No 72 0.129 124 17 0.137 0
PRKAA2 PRKAA2 P54646 5'-AMP-activated protein kinase catalytic subunit alpha-2 chr1 GO:0048871 Not Cancer Driver No 128 0.232 98 26 0.265 0
PRKACA PRKACA P17612 cAMP-dependent protein kinase catalytic subunit alpha chr19 GO:0048871 Census Yes 53 0.151 24 0 0.0 2
PRKACB_ENST00000370689 PRKACB P22694 cAMP-dependent protein kinase catalytic subunit beta chr1 GO:0048871 Not Cancer Driver No 50 0.142 26 6 0.231 4
PRKACG PRKACG P22612 cAMP-dependent protein kinase catalytic subunit gamma chr9 GO:0048871 Not Cancer Driver No 74 0.211 23 7 0.304 1
RHAG RHAG Q02094 Ammonium transporter Rh type A chr6 GO:0048871 Not Cancer Driver No 102 0.249 0 0 0.0 6
RRP8 RRP8 O43159 Ribosomal RNA-processing protein 8 chr11 GO:0048871 Not Cancer Driver No 66 0.145 270 44 0.163 0
SCNN1A_ENST00000228916 SCNN1A P37088 Amiloride-sensitive sodium channel subunit alpha chr12 GO:0048871 Not Cancer Driver No 73 0.109 146 21 0.144 5
SCNN1B SCNN1B P51168 Amiloride-sensitive sodium channel subunit beta chr16 GO:0048871 Not Cancer Driver No 90 0.141 62 4 0.065 13
SCNN1G SCNN1G P51170 Amiloride-sensitive sodium channel subunit gamma chr16 GO:0048871 Not Cancer Driver No 129 0.199 57 11 0.193 0
SFN SFN P31947 14-3-3 protein sigma chr1 GO:0048871 Not Cancer Driver No 27 0.109 75 9 0.12 0
SGIP1 SGIP1 Q9BQI5 SH3-containing GRB2-like protein 3-interacting protein 1 chr1 GO:0048871 Not Cancer Driver No 210 0.254 559 152 0.272 0
SIRT1 SIRT1 Q96EB6 NAD-dependent protein deacetylase sirtuin-1 chr10 GO:0048871 Not Cancer Driver No 70 0.094 435 31 0.071 0
SLC11A1 SLC11A1 P49279 Natural resistance-associated macrophage protein 1 chr2 GO:0048871 Not Cancer Driver No 79 0.144 47 5 0.106 0
SLC11A2_ENST00000262051 SLC11A2 P49281 Natural resistance-associated macrophage protein 2 chr12 GO:0048871 Not Cancer Driver No 60 0.106 38 5 0.132 3
SLC35D3 SLC35D3 Q5M8T2 Solute carrier family 35 member D3 chr6 GO:0048871 Not Cancer Driver No 56 0.135 89 19 0.213 0
SLC40A1 SLC40A1 Q9NP59 Solute carrier family 40 member 1 chr2 GO:0048871 Not Cancer Driver No 63 0.11 48 3 0.062 12
SQSTM1 SQSTM1 Q13501 Sequestosome-1 chr5 GO:0048871 Not Cancer Driver No 54 0.123 267 32 0.12 30
SRF SRF P11831 Serum response factor chr6 GO:0048871 Not Cancer Driver No 44 0.087 443 42 0.095 0
STAT3 STAT3 P40763 Signal transducer and activator of transcription 3 chr17 GO:0048871 Census, Compendium Yes 110 0.143 152 15 0.099 19
STMN1_ENST00000357865 STMN1 P16949 Stathmin chr1 GO:0048871 Not Cancer Driver No 15 0.101 149 15 0.101 0
SUV39H1_ENST00000376687 SUV39H1 O43463 Histone-lysine N-methyltransferase SUV39H1 chrX GO:0048871 Not Cancer Driver No 59 0.143 15 1 0.067 0
TFAP2B TFAP2B Q92481 Transcription factor AP-2-beta chr6 GO:0048871 Not Cancer Driver No 114 0.248 306 75 0.245 6
TMEM79_ENST00000295694 TMEM79 Q9BSE2 Transmembrane protein 79 chr1 GO:0048871 Not Cancer Driver No 56 0.142 149 20 0.134 0
TMPRSS11F TMPRSS11F Q6ZWK6 Transmembrane protease serine 11F chr4 GO:0048871 Not Cancer Driver No 119 0.272 29 13 0.448 0
TNFRSF11A TNFRSF11A Q9Y6Q6 Tumor necrosis factor receptor superfamily member 11A chr18 GO:0048871 Not Cancer Driver No 70 0.114 285 33 0.116 0
TNS2_ENST00000314250 TNS2 Q63HR2 Tensin-2 chr12 GO:0048871 Not Cancer Driver No 132 0.094 799 63 0.079 0
TP63 TP63 Q9H3D4 Tumor protein 63 chr3 GO:0048871 Census, Compendium Yes 229 0.337 398 143 0.359 28
TRPM2_ENST00000397928 TRPM2 O94759 Transient receptor potential cation channel subfamily M member 2 chr21 GO:0048871 Not Cancer Driver No 286 0.19 266 44 0.165 0
TRPV1_ENST00000399756 TRPV1 Q8NER1 Transient receptor potential cation channel subfamily V member 1 chr17 GO:0048871 Not Cancer Driver No 93 0.111 155 18 0.116 0
TRPV4 TRPV4 Q9HBA0 Transient receptor potential cation channel subfamily V member 4 chr12 GO:0048871 Not Cancer Driver No 142 0.163 231 34 0.147 44
TSKU_ENST00000333090 TSKU Q8WUA8 Tsukushi chr11 GO:0048871 Not Cancer Driver No 53 0.15 44 6 0.136 0
UBB_ENST00000614404 UBB P0CG47 Polyubiquitin-B chr17 GO:0048871 Not Cancer Driver No 20 0.087 102 8 0.078 0
UGCG UGCG Q16739 Ceramide glucosyltransferase chr9 GO:0048871 Not Cancer Driver No 37 0.094 0 0 0.0 0
WFS1_ENST00000503569 WFS1 O76024 Wolframin chr4 GO:0048871 Not Cancer Driver No 105 0.118 203 10 0.049 39