Total number of protein in "GO:0003012" GO term: 100
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTA2 | ACTA2 | P62736 | Actin, aortic smooth muscle | chr10 | GO:0003012 | Not Cancer Driver | No | 50 | 0.133 | 39 | 4 | 0.103 | 17 |
ACTN3_ENST00000513398 | ACTN3 | Q08043 | Alpha-actinin-3 | chr11 | GO:0003012 | Not Cancer Driver | No | 123 | 0.137 | 135 | 13 | 0.096 | 0 |
ADORA1 | ADORA1 | P30542 | Adenosine receptor A1 | chr1 | GO:0003012 | Not Cancer Driver | No | 64 | 0.196 | 12 | 4 | 0.333 | 0 |
ADORA2B | ADORA2B | P29275 | Adenosine receptor A2b | chr17 | GO:0003012 | Not Cancer Driver | No | 23 | 0.069 | 0 | 0 | 0.0 | 0 |
AGT | AGT | P01019 | Angiotensinogen | chr1 | GO:0003012 | Not Cancer Driver | No | 85 | 0.179 | 33 | 10 | 0.303 | 1 |
ATP1A1_ENST00000295598 | ATP1A1 | P05023 | Sodium/potassium-transporting ATPase subunit alpha-1 | chr1 | GO:0003012 | Census | Yes | 115 | 0.112 | 115 | 16 | 0.139 | 6 |
ATP1A2 | ATP1A2 | P50993 | Sodium/potassium-transporting ATPase subunit alpha-2 | chr1 | GO:0003012 | Not Cancer Driver | No | 230 | 0.225 | 161 | 34 | 0.211 | 8 |
ATP1B1 | ATP1B1 | P05026 | Sodium/potassium-transporting ATPase subunit beta-1 | chr1 | GO:0003012 | Not Cancer Driver | No | 38 | 0.125 | 55 | 9 | 0.164 | 0 |
ATP2A1 | ATP2A1 | O14983 | Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 | chr16 | GO:0003012 | Not Cancer Driver | No | 157 | 0.157 | 80 | 11 | 0.138 | 1 |
ATP2A2 | ATP2A2 | P16615 | Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 | chr12 | GO:0003012 | Not Cancer Driver | No | 136 | 0.131 | 78 | 14 | 0.179 | 41 |
ATP8A2 | ATP8A2 | Q9NTI2 | Phospholipid-transporting ATPase IB | chr13 | GO:0003012 | Not Cancer Driver | No | 236 | 0.199 | 78 | 14 | 0.179 | 1 |
CAMK2D_ENST00000342666 | CAMK2D | Q13557 | Calcium/calmodulin-dependent protein kinase type II subunit delta | chr4 | GO:0003012 | Not Cancer Driver | No | 57 | 0.114 | 84 | 10 | 0.119 | 0 |
CAMTA2_ENST00000348066 | CAMTA2 | O94983 | Calmodulin-binding transcription activator 2 | chr17 | GO:0003012 | Not Cancer Driver | No | 148 | 0.123 | 613 | 84 | 0.137 | 0 |
CD38 | CD38 | P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | chr4 | GO:0003012 | Not Cancer Driver | No | 54 | 0.18 | 3 | 1 | 0.333 | 0 |
CFLAR | CFLAR | O15519 | CASP8 and FADD-like apoptosis regulator | chr2 | GO:0003012 | Not Cancer Driver | No | 40 | 0.083 | 44 | 2 | 0.045 | 0 |
COMP | COMP | P49747 | Cartilage oligomeric matrix protein | chr19 | GO:0003012 | Not Cancer Driver | No | 97 | 0.128 | 306 | 52 | 0.17 | 61 |
CSRP3 | CSRP3 | P50461 | Cysteine and glycine-rich protein 3 | chr11 | GO:0003012 | Not Cancer Driver | No | 25 | 0.129 | 31 | 1 | 0.032 | 2 |
CYBA | CYBA | P13498 | Cytochrome b-245 light chain | chr16 | GO:0003012 | Not Cancer Driver | No | 26 | 0.133 | 66 | 2 | 0.03 | 12 |
DCANP1 | DCANP1 | Q8TF63 | Dendritic cell nuclear protein 1 | chr5 | GO:0003012 | Not Cancer Driver | No | 44 | 0.18 | 159 | 35 | 0.22 | 0 |
DLG1_ENST00000419354 | DLG1 | Q12959 | Disks large homolog 1 | chr3 | GO:0003012 | Not Cancer Driver | No | 120 | 0.133 | 460 | 67 | 0.146 | 0 |
DRD1 | DRD1 | P21728 | D(1A) dopamine receptor | chr5 | GO:0003012 | Not Cancer Driver | No | 73 | 0.164 | 30 | 4 | 0.133 | 0 |
DRD2_ENST00000542968 | DRD2 | P14416 | D(2) dopamine receptor | chr11 | GO:0003012 | Not Cancer Driver | No | 127 | 0.287 | 124 | 45 | 0.363 | 0 |
EDN1 | EDN1 | P05305 | Endothelin-1 | chr6 | GO:0003012 | Not Cancer Driver | No | 37 | 0.175 | 97 | 20 | 0.206 | 3 |
EDN2 | EDN2 | P20800 | Endothelin-2 | chr1 | GO:0003012 | Not Cancer Driver | No | 21 | 0.118 | 87 | 13 | 0.149 | 0 |
EDN3_ENST00000371028 | EDN3 | P14138 | Endothelin-3 | chr20 | GO:0003012 | Not Cancer Driver | No | 69 | 0.29 | 140 | 44 | 0.314 | 3 |
EDNRA | EDNRA | P25101 | Endothelin-1 receptor | chr4 | GO:0003012 | Not Cancer Driver | No | 62 | 0.145 | 21 | 6 | 0.286 | 2 |
EDNRB_ENST00000334286 | EDNRB | P24530 | Endothelin receptor type B | chr13 | GO:0003012 | Not Cancer Driver | No | 112 | 0.253 | 56 | 19 | 0.339 | 6 |
EZH2_ENST00000460911 | EZH2 | Q15910 | Histone-lysine N-methyltransferase EZH2 | chr7 | GO:0003012 | Census, Compendium | Yes | 120 | 0.161 | 284 | 44 | 0.155 | 11 |
GAA_ENST00000390015 | GAA | P10253 | Lysosomal alpha-glucosidase | chr17 | GO:0003012 | Not Cancer Driver | No | 101 | 0.106 | 147 | 18 | 0.122 | 131 |
GATA6 | GATA6 | Q92908 | Transcription factor GATA-6 | chr18 | GO:0003012 | Not Cancer Driver | No | 57 | 0.096 | 476 | 51 | 0.107 | 10 |
GATM | GATM | P50440 | Glycine amidinotransferase, mitochondrial | chr15 | GO:0003012 | Not Cancer Driver | No | 69 | 0.163 | 33 | 8 | 0.242 | 15 |
GDNF_ENST00000326524 | GDNF | P39905 | Glial cell line-derived neurotrophic factor | chr5 | GO:0003012 | Not Cancer Driver | No | 47 | 0.223 | 83 | 18 | 0.217 | 2 |
GRIP2_ENST00000621039 | GRIP2 | Q9C0E4 | Glutamate receptor-interacting protein 2 | chr3 | GO:0003012 | Not Cancer Driver | No | 143 | 0.137 | 586 | 84 | 0.143 | 0 |
GSN | GSN | P06396 | Gelsolin | chr9 | GO:0003012 | Not Cancer Driver | No | 76 | 0.097 | 316 | 28 | 0.089 | 2 |
GSTM2 | GSTM2 | P28161 | Glutathione S-transferase Mu 2 | chr1 | GO:0003012 | Not Cancer Driver | No | 26 | 0.119 | 5 | 0 | 0.0 | 0 |
GUCY1A1_ENST00000513574 | GUCY1A1 | Q02108 | Guanylate cyclase soluble subunit alpha-1 | chr4 | GO:0003012 | Not Cancer Driver | No | 181 | 0.262 | 54 | 8 | 0.148 | 0 |
HDAC2 | HDAC2 | Q92769 | Histone deacetylase 2 | chr6 | GO:0003012 | Not Cancer Driver | No | 46 | 0.094 | 145 | 14 | 0.097 | 0 |
HDAC4 | HDAC4 | P56524 | Histone deacetylase 4 | chr2 | GO:0003012 | Not Cancer Driver | No | 182 | 0.168 | 749 | 132 | 0.176 | 0 |
HEY2 | HEY2 | Q9UBP5 | Hairy/enhancer-of-split related with YRPW motif protein 2 | chr6 | GO:0003012 | Not Cancer Driver | No | 64 | 0.19 | 179 | 26 | 0.145 | 0 |
HMOX1 | HMOX1 | P09601 | Heme oxygenase 1 | chr22 | GO:0003012 | Not Cancer Driver | No | 46 | 0.16 | 81 | 13 | 0.16 | 0 |
HTR1D | HTR1D | P28221 | 5-hydroxytryptamine receptor 1D | chr1 | GO:0003012 | Not Cancer Driver | No | 54 | 0.143 | 24 | 1 | 0.042 | 0 |
HTR2A | HTR2A | P28223 | 5-hydroxytryptamine receptor 2A | chr13 | GO:0003012 | Not Cancer Driver | No | 105 | 0.223 | 44 | 8 | 0.182 | 0 |
HTR2B | HTR2B | P41595 | 5-hydroxytryptamine receptor 2B | chr2 | GO:0003012 | Not Cancer Driver | No | 41 | 0.085 | 23 | 2 | 0.087 | 0 |
IGF1_ENST00000307046 | IGF1 | P05019 | Insulin-like growth factor I | chr12 | GO:0003012 | Not Cancer Driver | No | 45 | 0.231 | 87 | 23 | 0.264 | 0 |
IL15_ENST00000320650 | IL15 | P40933 | Interleukin-15 | chr4 | GO:0003012 | Not Cancer Driver | No | 25 | 0.154 | 6 | 1 | 0.167 | 0 |
IL1B | IL1B | P01584 | Interleukin-1 beta | chr2 | GO:0003012 | Not Cancer Driver | No | 39 | 0.145 | 16 | 3 | 0.188 | 0 |
INPP5F | INPP5F | Q9Y2H2 | Phosphatidylinositide phosphatase SAC2 | chr10 | GO:0003012 | Not Cancer Driver | No | 138 | 0.122 | 394 | 45 | 0.114 | 0 |
KBTBD13 | KBTBD13 | C9JR72 | Kelch repeat and BTB domain-containing protein 13 | chr15 | GO:0003012 | Not Cancer Driver | No | 32 | 0.07 | 18 | 1 | 0.056 | 3 |
KCNJ2_ENST00000535240 | KCNJ2 | P63252 | Inward rectifier potassium channel 2 | chr17 | GO:0003012 | Not Cancer Driver | No | 103 | 0.241 | 49 | 11 | 0.224 | 12 |
KCNMA1 | KCNMA1 | Q12791 | Calcium-activated potassium channel subunit alpha-1 | chr10 | GO:0003012 | Not Cancer Driver | No | 222 | 0.18 | 225 | 39 | 0.173 | 5 |
KDM4A | KDM4A | O75164 | Lysine-specific demethylase 4A | chr1 | GO:0003012 | Not Cancer Driver | No | 122 | 0.115 | 337 | 44 | 0.131 | 0 |
KLF15 | KLF15 | Q9UIH9 | Krueppel-like factor 15 | chr3 | GO:0003012 | Not Cancer Driver | No | 66 | 0.159 | 273 | 48 | 0.176 | 0 |
LEP | LEP | P41159 | Leptin | chr7 | GO:0003012 | Not Cancer Driver | No | 29 | 0.174 | 0 | 0 | 0.0 | 2 |
MKKS | MKKS | Q9NPJ1 | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin | chr20 | GO:0003012 | Not Cancer Driver | No | 56 | 0.098 | 6 | 1 | 0.167 | 22 |
MSTN | MSTN | O14793 | Growth/differentiation factor 8 | chr2 | GO:0003012 | Not Cancer Driver | No | 68 | 0.181 | 64 | 11 | 0.172 | 0 |
MYH6 | MYH6 | P13533 | Myosin-6 | chr14 | GO:0003012 | Not Cancer Driver | No | 392 | 0.202 | 1112 | 238 | 0.214 | 7 |
MYH7 | MYH7 | P12883 | Myosin-7 | chr14 | GO:0003012 | Not Cancer Driver | No | 464 | 0.24 | 1107 | 276 | 0.249 | 200 |
MYLK | MYLK | Q15746 | Myosin light chain kinase, smooth muscle | chr3 | GO:0003012 | Not Cancer Driver | No | 343 | 0.179 | 957 | 184 | 0.192 | 3 |
MYOC | MYOC | Q99972 | Myocilin | chr1 | GO:0003012 | Not Cancer Driver | No | 92 | 0.183 | 196 | 43 | 0.219 | 58 |
MYOG | MYOG | P15173 | Myogenin | chr1 | GO:0003012 | Not Cancer Driver | No | 36 | 0.161 | 132 | 20 | 0.152 | 0 |
NEUROG1 | NEUROG1 | Q92886 | Neurogenin-1 | chr5 | GO:0003012 | Not Cancer Driver | No | 27 | 0.114 | 178 | 18 | 0.101 | 0 |
NOS3 | NOS3 | P29474 | Nitric oxide synthase, endothelial | chr7 | GO:0003012 | Not Cancer Driver | No | 168 | 0.14 | 347 | 38 | 0.11 | 0 |
NPPA | NPPA | P01160 | Natriuretic peptides A | chr1 | GO:0003012 | Not Cancer Driver | No | 32 | 0.212 | 71 | 14 | 0.197 | 1 |
P2RX2_ENST00000643471 | P2RX2 | Q9UBL9 | P2X purinoceptor 2 | chr12 | GO:0003012 | Not Cancer Driver | No | 62 | 0.132 | 104 | 13 | 0.125 | 2 |
P2RX3 | P2RX3 | P56373 | P2X purinoceptor 3 | chr11 | GO:0003012 | Not Cancer Driver | No | 85 | 0.214 | 15 | 6 | 0.4 | 0 |
P2RX4_ENST00000337233 | P2RX4 | Q99571 | P2X purinoceptor 4 | chr12 | GO:0003012 | Not Cancer Driver | No | 36 | 0.093 | 0 | 0 | 0.0 | 0 |
P2RY1 | P2RY1 | P47900 | P2Y purinoceptor 1 | chr3 | GO:0003012 | Not Cancer Driver | No | 60 | 0.161 | 16 | 1 | 0.062 | 0 |
PAK2 | PAK2 | Q13177 | Serine/threonine-protein kinase PAK 2 | chr3 | GO:0003012 | Compendium | Yes | 89 | 0.17 | 242 | 49 | 0.202 | 0 |
PDE5A | PDE5A | O76074 | cGMP-specific 3',5'-cyclic phosphodiesterase | chr4 | GO:0003012 | Not Cancer Driver | No | 113 | 0.129 | 163 | 23 | 0.141 | 0 |
PIK3C2A | PIK3C2A | O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | chr11 | GO:0003012 | Not Cancer Driver | No | 187 | 0.111 | 350 | 43 | 0.123 | 0 |
PIK3CA | PIK3CA | P42336 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | chr3 | GO:0003012 | Census, Compendium | Yes | 1669 | 1.563 | 38 | 11 | 0.289 | 30 |
PLA2G6 | PLA2G6 | O60733 | 85/88 kDa calcium-independent phospholipase A2 | chr22 | GO:0003012 | Not Cancer Driver | No | 108 | 0.134 | 148 | 23 | 0.155 | 11 |
PLN | PLN | P26678 | Cardiac phospholamban | chr6 | GO:0003012 | Not Cancer Driver | No | 10 | 0.192 | 0 | 0 | 0.0 | 3 |
PPP3CA | PPP3CA | Q08209 | Protein phosphatase 3 catalytic subunit alpha | chr4 | GO:0003012 | Compendium | Yes | 85 | 0.163 | 140 | 27 | 0.193 | 7 |
PRKG1_ENST00000401604 | PRKG1 | Q13976 | cGMP-dependent protein kinase 1 | chr10 | GO:0003012 | Not Cancer Driver | No | 167 | 0.249 | 93 | 22 | 0.237 | 1 |
PTGER3_ENST00000370931 | PTGER3 | P43115 | Prostaglandin E2 receptor EP3 subtype | chr1 | GO:0003012 | Not Cancer Driver | No | 79 | 0.203 | 17 | 2 | 0.118 | 0 |
RAP1GDS1_ENST00000408927 | RAP1GDS1 | P52306 | Rap1 GTPase-GDP dissociation stimulator 1 | chr4 | GO:0003012 | Census, Compendium | Yes | 93 | 0.153 | 13 | 0 | 0.0 | 0 |
RGS2 | RGS2 | P41220 | Regulator of G-protein signaling 2 | chr1 | GO:0003012 | Not Cancer Driver | No | 30 | 0.142 | 50 | 4 | 0.08 | 0 |
RPS6KB1 | RPS6KB1 | P23443 | Ribosomal protein S6 kinase beta-1 | chr17 | GO:0003012 | Not Cancer Driver | No | 45 | 0.086 | 226 | 26 | 0.115 | 0 |
RYR2 | RYR2 | Q92736 | Ryanodine receptor 2 | chr1 | GO:0003012 | Not Cancer Driver | No | 1703 | 0.343 | 782 | 281 | 0.359 | 51 |
SCNN1B | SCNN1B | P51168 | Amiloride-sensitive sodium channel subunit beta | chr16 | GO:0003012 | Not Cancer Driver | No | 90 | 0.141 | 62 | 4 | 0.065 | 13 |
SCO2_ENST00000395693 | SCO2 | O43819 | Protein SCO2 homolog, mitochondrial | chr22 | GO:0003012 | Not Cancer Driver | No | 31 | 0.117 | 51 | 8 | 0.157 | 8 |
SLC8A1_ENST00000332839 | SLC8A1 | P32418 | Sodium/calcium exchanger 1 | chr2 | GO:0003012 | Not Cancer Driver | No | 305 | 0.313 | 158 | 48 | 0.304 | 0 |
SOD1 | SOD1 | P00441 | Superoxide dismutase [Cu-Zn] | chr21 | GO:0003012 | Not Cancer Driver | No | 16 | 0.104 | 93 | 9 | 0.097 | 79 |
SSTR2 | SSTR2 | P30874 | Somatostatin receptor type 2 | chr17 | GO:0003012 | Not Cancer Driver | No | 54 | 0.146 | 22 | 7 | 0.318 | 0 |
SULF1_ENST00000458141 | SULF1 | Q8IWU6 | Extracellular sulfatase Sulf-1 | chr8 | GO:0003012 | Not Cancer Driver | No | 246 | 0.282 | 269 | 71 | 0.264 | 0 |
SULF2_ENST00000484875 | SULF2 | Q8IWU5 | Extracellular sulfatase Sulf-2 | chr20 | GO:0003012 | Not Cancer Driver | No | 145 | 0.167 | 142 | 18 | 0.127 | 0 |
SYNM | SYNM | O15061 | Synemin | chr15 | GO:0003012 | Not Cancer Driver | No | 156 | 0.1 | 1244 | 131 | 0.105 | 0 |
TACR1 | TACR1 | P25103 | Substance-P receptor | chr2 | GO:0003012 | Not Cancer Driver | No | 69 | 0.17 | 28 | 2 | 0.071 | 0 |
TACR2 | TACR2 | P21452 | Substance-K receptor | chr10 | GO:0003012 | Not Cancer Driver | No | 61 | 0.153 | 11 | 4 | 0.364 | 0 |
TBX2 | TBX2 | Q13207 | T-box transcription factor TBX2 | chr17 | GO:0003012 | Not Cancer Driver | No | 74 | 0.104 | 401 | 36 | 0.09 | 1 |
TBX3 | TBX3 | O15119 | T-box transcription factor TBX3 | chr12 | GO:0003012 | Census, Compendium | Yes | 123 | 0.166 | 352 | 57 | 0.162 | 2 |
TCAP | TCAP | O15273 | Telethonin | chr17 | GO:0003012 | Not Cancer Driver | No | 16 | 0.096 | 94 | 10 | 0.106 | 3 |
TIFAB | TIFAB | Q6ZNK6 | TRAF-interacting protein with FHA domain-containing protein B | chr5 | GO:0003012 | Not Cancer Driver | No | 32 | 0.199 | 26 | 7 | 0.269 | 0 |
TNNC1 | TNNC1 | P63316 | Troponin C, slow skeletal and cardiac muscles | chr3 | GO:0003012 | Not Cancer Driver | No | 19 | 0.118 | 67 | 6 | 0.09 | 6 |
TNNT1 | TNNT1 | P13805 | Troponin T, slow skeletal muscle | chr19 | GO:0003012 | Not Cancer Driver | No | 61 | 0.219 | 240 | 55 | 0.229 | 0 |
TRIM63 | TRIM63 | Q969Q1 | E3 ubiquitin-protein ligase TRIM63 | chr1 | GO:0003012 | Not Cancer Driver | No | 47 | 0.133 | 71 | 13 | 0.183 | 0 |
TRIM72 | TRIM72 | Q6ZMU5 | Tripartite motif-containing protein 72 | chr16 | GO:0003012 | Not Cancer Driver | No | 54 | 0.113 | 69 | 14 | 0.203 | 0 |
TRPV1_ENST00000399756 | TRPV1 | Q8NER1 | Transient receptor potential cation channel subfamily V member 1 | chr17 | GO:0003012 | Not Cancer Driver | No | 93 | 0.111 | 155 | 18 | 0.116 | 0 |
TTN_ENST00000615779 | TTN | Q8WZ42 | Titin | chr2 | GO:0003012 | Not Cancer Driver | No | 7917 | 0.23 | 12926 | 2861 | 0.221 | 10 |