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Total number of protein in "GO:1901617" GO term:  127

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
ABCA2_ENST00000371605 ABCA2 Q9BZC7 ATP-binding cassette sub-family A member 2 chr9 GO:1901617 Not Cancer Driver No 240 0.099 497 44 0.089 0
ABCB11 ABCB11 O95342 Bile salt export pump chr2 GO:1901617 Not Cancer Driver No 233 0.176 124 24 0.194 21
ABCD3 ABCD3 P28288 ATP-binding cassette sub-family D member 3 chr1 GO:1901617 Not Cancer Driver No 75 0.114 21 2 0.095 0
ACER1 ACER1 Q8TDN7 Alkaline ceramidase 1 chr19 GO:1901617 Not Cancer Driver No 54 0.205 0 0 0.0 0
ACER2 ACER2 Q5QJU3 Alkaline ceramidase 2 chr9 GO:1901617 Not Cancer Driver No 27 0.098 0 0 0.0 0
ACER3 ACER3 Q9NUN7 Alkaline ceramidase 3 chr11 GO:1901617 Not Cancer Driver No 28 0.105 0 0 0.0 1
ACOT8 ACOT8 O14734 Acyl-coenzyme A thioesterase 8 chr20 GO:1901617 Not Cancer Driver No 43 0.135 52 7 0.135 0
AKR1C3 AKR1C3 P42330 Aldo-keto reductase family 1 member C3 chr10 GO:1901617 Not Cancer Driver No 49 0.152 11 1 0.091 0
AKR1C4 AKR1C4 P17516 Aldo-keto reductase family 1 member C4 chr10 GO:1901617 Not Cancer Driver No 78 0.241 9 3 0.333 0
AKR1D1 AKR1D1 P51857 Aldo-keto reductase family 1 member D1 chr7 GO:1901617 Not Cancer Driver No 89 0.273 15 3 0.2 5
ALOX12 ALOX12 P18054 Polyunsaturated fatty acid lipoxygenase ALOX12 chr17 GO:1901617 Not Cancer Driver No 73 0.11 73 12 0.164 0
ALOX15B ALOX15B O15296 Polyunsaturated fatty acid lipoxygenase ALOX15B chr17 GO:1901617 Not Cancer Driver No 99 0.146 62 12 0.194 0
ALOX15_ENST00000293761 ALOX15 P16050 Polyunsaturated fatty acid lipoxygenase ALOX15 chr17 GO:1901617 Not Cancer Driver No 84 0.127 46 7 0.152 0
AMACR_ENST00000335606 AMACR Q9UHK6 Alpha-methylacyl-CoA racemase chr5 GO:1901617 Not Cancer Driver No 56 0.147 38 8 0.211 3
ASAH1_ENST00000262097 ASAH1 Q13510 Acid ceramidase chr8 GO:1901617 Not Cancer Driver No 47 0.119 10 3 0.3 14
ASAH2 ASAH2 Q9NR71 Neutral ceramidase chr10 GO:1901617 Not Cancer Driver No 71 0.091 140 24 0.171 0
ASAH2B_ENST00000374006 ASAH2B P0C7U1 Putative inactive neutral ceramidase B chr10 GO:1901617 Not Cancer Driver No 9 0.055 14 1 0.071 0
ASIP_ENST00000374954 ASIP P42127 Agouti-signaling protein chr20 GO:1901617 Not Cancer Driver No 16 0.121 36 9 0.25 0
BAAT_ENST00000395051 BAAT Q14032 Bile acid-CoA:amino acid N-acyltransferase chr9 GO:1901617 Not Cancer Driver No 88 0.211 10 4 0.4 1
CACNA1H CACNA1H O95180 Voltage-dependent T-type calcium channel subunit alpha-1H chr16 GO:1901617 Not Cancer Driver No 323 0.137 1045 141 0.135 18
CITED1_ENST00000246139 CITED1 Q99966 Cbp/p300-interacting transactivator 1 chrX GO:1901617 Not Cancer Driver No 24 0.124 166 21 0.127 0
CTNS_ENST00000046640 CTNS O60931 Cystinosin chr17 GO:1901617 Not Cancer Driver No 34 0.093 0 0 0.0 31
CYP11B1 CYP11B1 P15538 Cytochrome P450 11B1, mitochondrial chr8 GO:1901617 Not Cancer Driver No 177 0.352 7 1 0.143 50
CYP11B2 CYP11B2 P19099 Cytochrome P450 11B2, mitochondrial chr8 GO:1901617 Not Cancer Driver No 148 0.294 6 0 0.0 6
CYP19A1_ENST00000396404 CYP19A1 P11511 Aromatase chr15 GO:1901617 Not Cancer Driver No 91 0.181 2 1 0.5 5
CYP27A1 CYP27A1 Q02318 Sterol 26-hydroxylase, mitochondrial chr2 GO:1901617 Not Cancer Driver No 69 0.13 47 11 0.234 7
CYP27B1 CYP27B1 O15528 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial chr12 GO:1901617 Not Cancer Driver No 71 0.14 79 13 0.165 18
CYP2R1 CYP2R1 Q6VVX0 Vitamin D 25-hydroxylase chr11 GO:1901617 Not Cancer Driver No 53 0.106 5 1 0.2 1
CYP39A1 CYP39A1 Q9NYL5 24-hydroxycholesterol 7-alpha-hydroxylase chr6 GO:1901617 Not Cancer Driver No 61 0.13 3 0 0.0 0
CYP3A4 CYP3A4 P08684 Cytochrome P450 3A4 chr7 GO:1901617 Not Cancer Driver No 91 0.181 22 2 0.091 1
CYP46A1 CYP46A1 Q9Y6A2 Cholesterol 24-hydroxylase chr14 GO:1901617 Not Cancer Driver No 92 0.184 23 4 0.174 0
CYP7A1 CYP7A1 P22680 Cytochrome P450 7A1 chr8 GO:1901617 Not Cancer Driver No 109 0.216 48 8 0.167 0
CYP7B1 CYP7B1 O75881 Cytochrome P450 7B1 chr8 GO:1901617 Not Cancer Driver No 133 0.263 0 0 0.0 11
CYP8B1 CYP8B1 Q9UNU6 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase chr3 GO:1901617 Not Cancer Driver No 91 0.182 5 1 0.2 0
DAO DAO P14920 D-amino-acid oxidase chr12 GO:1901617 Not Cancer Driver No 103 0.297 28 13 0.464 0
DBH DBH P09172 Dopamine beta-hydroxylase chr9 GO:1901617 Not Cancer Driver No 125 0.203 71 17 0.239 3
DCT_ENST00000377028 DCT P40126 L-dopachrome tautomerase chr13 GO:1901617 Not Cancer Driver No 113 0.218 19 4 0.211 2
DDC DDC P20711 Aromatic-L-amino-acid decarboxylase chr7 GO:1901617 Not Cancer Driver No 98 0.204 5 0 0.0 9
DDT_ENST00000350608 DDT P30046 D-dopachrome decarboxylase chr22 GO:1901617 Not Cancer Driver No 4 0.034 0 0 0.0 0
DHCR24 DHCR24 Q15392 Delta(24)-sterol reductase chr1 GO:1901617 Not Cancer Driver No 55 0.107 0 0 0.0 6
DHCR7 DHCR7 Q9UBM7 7-dehydrocholesterol reductase chr11 GO:1901617 Not Cancer Driver No 85 0.179 7 1 0.143 53
DHDDS_ENST00000236342 DHDDS Q86SQ9 Dehydrodolichyl diphosphate synthase complex subunit DHDDS chr1 GO:1901617 Not Cancer Driver No 38 0.114 19 1 0.053 1
DHFR DHFR P00374 Dihydrofolate reductase chr5 GO:1901617 Not Cancer Driver No 16 0.086 12 2 0.167 2
EBP EBP Q15125 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase chrX GO:1901617 Not Cancer Driver No 30 0.13 9 0 0.0 9
FGF2_ENST00000614010 FGF2 P09038 Fibroblast growth factor 2 chr4 GO:1901617 Not Cancer Driver No 18 0.062 183 5 0.027 0
GATA3_ENST00000346208 GATA3 P23771 Trans-acting T-cell-specific transcription factor GATA-3 chr10 GO:1901617 Census, Compendium Yes 111 0.251 364 87 0.239 2
GBA_ENST00000368373 GBA P04062 Lysosomal acid glucosylceramidase chr1 GO:1901617 Not Cancer Driver No 74 0.138 38 5 0.132 171
GCH1_ENST00000622544 GCH1 P30793 GTP cyclohydrolase 1 chr14 GO:1901617 Not Cancer Driver No 20 0.08 99 5 0.051 38
GOT1 GOT1 P17174 Aspartate aminotransferase, cytoplasmic chr10 GO:1901617 Not Cancer Driver No 56 0.136 35 5 0.143 0
GPR37 GPR37 O15354 Prosaposin receptor GPR37 chr7 GO:1901617 Not Cancer Driver No 124 0.202 200 42 0.21 0
HDC HDC P19113 Histidine decarboxylase chr15 GO:1901617 Not Cancer Driver No 163 0.246 96 24 0.25 0
HSD17B10 HSD17B10 Q99714 3-hydroxyacyl-CoA dehydrogenase type-2 chrX GO:1901617 Not Cancer Driver No 27 0.103 15 3 0.2 11
HSD17B1_ENST00000585807 HSD17B1 P14061 17-beta-hydroxysteroid dehydrogenase type 1 chr17 GO:1901617 Not Cancer Driver No 48 0.146 59 28 0.475 0
HSD17B3 HSD17B3 P37058 17-beta-hydroxysteroid dehydrogenase type 3 chr9 GO:1901617 Not Cancer Driver No 42 0.135 0 0 0.0 15
HSD3B7 HSD3B7 Q9H2F3 3 beta-hydroxysteroid dehydrogenase type 7 chr16 GO:1901617 Not Cancer Driver No 43 0.117 27 5 0.185 2
IMPA1_ENST00000256108 IMPA1 P29218 Inositol monophosphatase 1 chr8 GO:1901617 Not Cancer Driver No 36 0.13 3 0 0.0 0
IMPA2 IMPA2 O14732 Inositol monophosphatase 2 chr18 GO:1901617 Not Cancer Driver No 44 0.153 21 1 0.048 0
INSM1 INSM1 Q01101 Insulinoma-associated protein 1 chr20 GO:1901617 Not Cancer Driver No 25 0.049 359 12 0.033 0
IP6K1 IP6K1 Q92551 Inositol hexakisphosphate kinase 1 chr3 GO:1901617 Not Cancer Driver No 50 0.113 216 29 0.134 0
IP6K2 IP6K2 Q9UHH9 Inositol hexakisphosphate kinase 2 chr3 GO:1901617 Not Cancer Driver No 45 0.106 96 10 0.104 0
IP6K3 IP6K3 Q96PC2 Inositol hexakisphosphate kinase 3 chr6 GO:1901617 Not Cancer Driver No 85 0.207 149 34 0.228 0
IPMK IPMK Q8NFU5 Inositol polyphosphate multikinase chr10 GO:1901617 Not Cancer Driver No 50 0.12 108 9 0.083 0
IPPK IPPK Q9H8X2 Inositol-pentakisphosphate 2-kinase chr9 GO:1901617 Not Cancer Driver No 55 0.112 43 3 0.07 0
ISYNA1 ISYNA1 Q9NPH2 Inositol-3-phosphate synthase 1 chr19 GO:1901617 Not Cancer Driver No 40 0.072 83 2 0.024 0
ITPKA ITPKA P23677 Inositol-trisphosphate 3-kinase A chr15 GO:1901617 Not Cancer Driver No 28 0.061 216 7 0.032 0
ITPKB_ENST00000272117 ITPKB P27987 Inositol-trisphosphate 3-kinase B chr1 GO:1901617 Not Cancer Driver No 148 0.156 719 119 0.166 0
ITPKC ITPKC Q96DU7 Inositol-trisphosphate 3-kinase C chr19 GO:1901617 Not Cancer Driver No 78 0.114 452 38 0.084 0
KL KL Q9UEF7 Klotho chr13 GO:1901617 Not Cancer Driver No 175 0.173 104 5 0.048 1
LDHC LDHC P07864 L-lactate dehydrogenase C chain chr11 GO:1901617 Not Cancer Driver No 61 0.184 0 0 0.0 0
LEP LEP P41159 Leptin chr7 GO:1901617 Not Cancer Driver No 29 0.174 0 0 0.0 2
MC1R_ENST00000639847 MC1R Q01726 Melanocyte-stimulating hormone receptor chr16 GO:1901617 Not Cancer Driver No 39 0.123 0 0 0.0 5
MFSD12 MFSD12 Q6NUT3 Major facilitator superfamily domain-containing protein 12 chr19 GO:1901617 Not Cancer Driver No 48 0.1 24 8 0.333 0
MOXD1 MOXD1 Q6UVY6 DBH-like monooxygenase protein 1 chr6 GO:1901617 Not Cancer Driver No 99 0.162 29 7 0.241 0
NR4A2_ENST00000409572 NR4A2 P43354 Nuclear receptor subfamily 4 group A member 2 chr2 GO:1901617 Not Cancer Driver No 110 0.184 261 38 0.146 0
NUS1 NUS1 Q96E22 Dehydrodolichyl diphosphate synthase complex subunit NUS1 chr6 GO:1901617 Not Cancer Driver No 21 0.072 13 0 0.0 1
OCA2 OCA2 Q04671 P protein chr15 GO:1901617 Not Cancer Driver No 199 0.237 103 23 0.223 39
OSBP OSBP P22059 Oxysterol-binding protein 1 chr11 GO:1901617 Not Cancer Driver No 83 0.103 386 39 0.101 0
OSBPL1A OSBPL1A Q9BXW6 Oxysterol-binding protein-related protein 1 chr18 GO:1901617 Not Cancer Driver No 110 0.116 314 27 0.086 0
OSBPL2_ENST00000643981 OSBPL2 Q9H1P3 Oxysterol-binding protein-related protein 2 chr20 GO:1901617 Not Cancer Driver No 57 0.119 173 18 0.104 0
OSBPL3 OSBPL3 Q9H4L5 Oxysterol-binding protein-related protein 3 chr7 GO:1901617 Not Cancer Driver No 114 0.129 324 44 0.136 0
OSBPL6_ENST00000190611 OSBPL6 Q9BZF3 Oxysterol-binding protein-related protein 6 chr2 GO:1901617 Not Cancer Driver No 167 0.179 365 72 0.197 0
OSBPL7_ENST00000392507 OSBPL7 Q9BZF2 Oxysterol-binding protein-related protein 7 chr17 GO:1901617 Not Cancer Driver No 99 0.118 395 44 0.111 0
OSBPL9_ENST00000428468 OSBPL9 Q96SU4 Oxysterol-binding protein-related protein 9 chr1 GO:1901617 Not Cancer Driver No 90 0.122 237 32 0.135 0
PAH PAH P00439 Phenylalanine-4-hydroxylase chr12 GO:1901617 Not Cancer Driver No 133 0.294 13 4 0.308 222
PARK7_ENST00000377488 PARK7 Q99497 Parkinson disease protein 7 chr1 GO:1901617 Not Cancer Driver No 11 0.058 30 0 0.0 5
PCBD1 PCBD1 P61457 Pterin-4-alpha-carbinolamine dehydratase chr10 GO:1901617 Not Cancer Driver No 8 0.077 7 0 0.0 3
PCBD2_ENST00000254908 PCBD2 Q9H0N5 Pterin-4-alpha-carbinolamine dehydratase 2 chr5 GO:1901617 Not Cancer Driver No 6 0.046 3 0 0.0 0
PCK1 PCK1 P35558 Phosphoenolpyruvate carboxykinase, cytosolic [GTP] chr20 GO:1901617 Not Cancer Driver No 142 0.228 110 28 0.255 1
PCK2 PCK2 Q16822 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial chr14 GO:1901617 Not Cancer Driver No 91 0.142 139 13 0.094 0
PDXK PDXK O00764 Pyridoxal kinase chr21 GO:1901617 Not Cancer Driver No 27 0.087 47 6 0.128 2
PER2 PER2 O15055 Period circadian protein homolog 2 chr2 GO:1901617 Not Cancer Driver No 166 0.132 782 101 0.129 1
PGP PGP A6NDG6 Glycerol-3-phosphate phosphatase chr16 GO:1901617 Not Cancer Driver No 10 0.031 21 0 0.0 0
PLCG2 PLCG2 P16885 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 chr16 GO:1901617 Not Cancer Driver No 248 0.196 142 30 0.211 1
PLTP PLTP P55058 Phospholipid transfer protein chr20 GO:1901617 Not Cancer Driver No 78 0.158 27 6 0.222 0
PMEL_ENST00000552882 PMEL P40967 Melanocyte protein PMEL chr12 GO:1901617 Not Cancer Driver No 83 0.126 180 15 0.083 0
PNMT PNMT P11086 Phenylethanolamine N-methyltransferase chr17 GO:1901617 Not Cancer Driver No 36 0.128 44 4 0.091 0
PNPO PNPO Q9NVS9 Pyridoxine-5'-phosphate oxidase chr17 GO:1901617 Not Cancer Driver No 23 0.088 62 8 0.129 3
PPIP5K1 PPIP5K1 Q6PFW1 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 chr15 GO:1901617 Not Cancer Driver No 58 0.04 544 25 0.046 0
PPIP5K2_ENST00000358359 PPIP5K2 O43314 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 chr5 GO:1901617 Not Cancer Driver No 146 0.117 419 54 0.129 1
PSAT1 PSAT1 Q9Y617 Phosphoserine aminotransferase chr9 GO:1901617 Not Cancer Driver No 54 0.146 3 1 0.333 3
PTAFR_ENST00000305392 PTAFR P25105 Platelet-activating factor receptor chr1 GO:1901617 Not Cancer Driver No 42 0.123 0 0 0.0 0
PTS PTS Q03393 6-pyruvoyl tetrahydrobiopterin synthase chr11 GO:1901617 Not Cancer Driver No 9 0.062 22 1 0.045 24
QDPR QDPR P09417 Dihydropteridine reductase chr4 GO:1901617 Not Cancer Driver No 41 0.168 25 3 0.12 16
SC5D_ENST00000392789 SC5D O75845 Lathosterol oxidase chr11 GO:1901617 Not Cancer Driver No 43 0.144 21 3 0.143 3
SCP2 SCP2 P22307 Sterol carrier protein 2 chr1 GO:1901617 Not Cancer Driver No 59 0.108 45 2 0.044 0
SLC27A2 SLC27A2 O14975 Very long-chain acyl-CoA synthetase chr15 GO:1901617 Not Cancer Driver No 95 0.153 4 0 0.0 0
SLC27A5 SLC27A5 Q9Y2P5 Bile acyl-CoA synthetase chr19 GO:1901617 Not Cancer Driver No 107 0.155 7 2 0.286 0
SLC45A2 SLC45A2 Q9UMX9 Membrane-associated transporter protein chr5 GO:1901617 Not Cancer Driver No 111 0.209 53 6 0.113 21
SLC6A3 SLC6A3 Q01959 Sodium-dependent dopamine transporter chr5 GO:1901617 Not Cancer Driver No 150 0.242 31 8 0.258 2
SNCA_ENST00000506244 SNCA P37840 Alpha-synuclein chr4 GO:1901617 Not Cancer Driver No 21 0.15 107 13 0.121 5
SPHK1_ENST00000545180 SPHK1 Q9NYA1 Sphingosine kinase 1 chr17 GO:1901617 Not Cancer Driver No 47 0.122 25 2 0.08 0
SPHK2 SPHK2 Q9NRA0 Sphingosine kinase 2 chr19 GO:1901617 Not Cancer Driver No 82 0.125 293 39 0.133 0
SPR SPR P35270 Sepiapterin reductase chr2 GO:1901617 Not Cancer Driver No 23 0.088 19 4 0.211 2
SPTLC1 SPTLC1 O15269 Serine palmitoyltransferase 1 chr9 GO:1901617 Not Cancer Driver No 50 0.106 27 5 0.185 5
SPTLC2 SPTLC2 O15270 Serine palmitoyltransferase 2 chr14 GO:1901617 Not Cancer Driver No 72 0.128 9 2 0.222 5
SPTLC3 SPTLC3 Q9NUV7 Serine palmitoyltransferase 3 chr20 GO:1901617 Not Cancer Driver No 135 0.245 40 12 0.3 0
SPTSSA SPTSSA Q969W0 Serine palmitoyltransferase small subunit A chr14 GO:1901617 Not Cancer Driver No 9 0.127 0 0 0.0 0
SPTSSB_ENST00000620149 SPTSSB Q8NFR3 Serine palmitoyltransferase small subunit B chr3 GO:1901617 Not Cancer Driver No 15 0.197 0 0 0.0 0
SRD5A2 SRD5A2 P31213 3-oxo-5-alpha-steroid 4-dehydrogenase 2 chr2 GO:1901617 Not Cancer Driver No 48 0.189 0 0 0.0 21
SRD5A3 SRD5A3 Q9H8P0 Polyprenol reductase chr4 GO:1901617 Not Cancer Driver No 35 0.11 0 0 0.0 0
TGFB2_ENST00000366930 TGFB2 P61812 Transforming growth factor beta-2 proprotein chr1 GO:1901617 Not Cancer Driver No 63 0.152 47 8 0.17 3
TH TH P07101 Tyrosine 3-monooxygenase chr11 GO:1901617 Not Cancer Driver No 61 0.116 149 21 0.141 38
TPH1 TPH1 P17752 Tryptophan 5-hydroxylase 1 chr11 GO:1901617 Not Cancer Driver No 80 0.18 14 3 0.214 0
TPH2 TPH2 Q8IWU9 Tryptophan 5-hydroxylase 2 chr12 GO:1901617 Not Cancer Driver No 118 0.241 55 17 0.309 1
TRPC1 TRPC1 P48995 Short transient receptor potential channel 1 chr3 GO:1901617 Not Cancer Driver No 143 0.18 52 11 0.212 0
TYR TYR P14679 Tyrosinase chr11 GO:1901617 Not Cancer Driver No 156 0.295 52 15 0.288 111
TYRP1 TYRP1 P17643 5,6-dihydroxyindole-2-carboxylic acid oxidase chr9 GO:1901617 Not Cancer Driver No 81 0.151 87 13 0.149 2