Total number of protein in "GO:0060048" GO term: 42
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1A2 | ATP1A2 | P50993 | Sodium/potassium-transporting ATPase subunit alpha-2 | chr1 | GO:0060048 | Not Cancer Driver | No | 230 | 0.225 | 161 | 34 | 0.211 | 8 |
ATP1B1 | ATP1B1 | P05026 | Sodium/potassium-transporting ATPase subunit beta-1 | chr1 | GO:0060048 | Not Cancer Driver | No | 38 | 0.125 | 55 | 9 | 0.164 | 0 |
CASQ2 | CASQ2 | O14958 | Calsequestrin-2 | chr1 | GO:0060048 | Not Cancer Driver | No | 74 | 0.185 | 75 | 16 | 0.213 | 4 |
CSRP3 | CSRP3 | P50461 | Cysteine and glycine-rich protein 3 | chr11 | GO:0060048 | Not Cancer Driver | No | 25 | 0.129 | 31 | 1 | 0.032 | 2 |
CXCR4_ENST00000241393 | CXCR4 | P61073 | C-X-C chemokine receptor type 4 | chr2 | GO:0060048 | Census, Compendium | Yes | 62 | 0.176 | 5 | 1 | 0.2 | 0 |
DMD | DMD | P11532 | Dystrophin | chrX | GO:0060048 | Not Cancer Driver | No | 895 | 0.243 | 1399 | 329 | 0.235 | 14 |
GAA_ENST00000390015 | GAA | P10253 | Lysosomal alpha-glucosidase | chr17 | GO:0060048 | Not Cancer Driver | No | 101 | 0.106 | 147 | 18 | 0.122 | 131 |
GRK2 | GRK2 | P25098 | Beta-adrenergic receptor kinase 1 | chr11 | GO:0060048 | Not Cancer Driver | No | 77 | 0.112 | 87 | 8 | 0.092 | 0 |
KCNE5 | KCNE5 | Q9UJ90 | Potassium voltage-gated channel subfamily E regulatory beta subunit 5 | chrX | GO:0060048 | Not Cancer Driver | No | 35 | 0.246 | 68 | 26 | 0.382 | 0 |
KCNH2 | KCNH2 | Q12809 | Potassium voltage-gated channel subfamily H member 2 | chr7 | GO:0060048 | Not Cancer Driver | No | 189 | 0.163 | 466 | 50 | 0.107 | 117 |
KCNQ1 | KCNQ1 | P51787 | Potassium voltage-gated channel subfamily KQT member 1 | chr11 | GO:0060048 | Not Cancer Driver | No | 78 | 0.115 | 219 | 20 | 0.091 | 132 |
MAP2K3 | MAP2K3 | P46734 | Dual specificity mitogen-activated protein kinase kinase 3 | chr17 | GO:0060048 | Not Cancer Driver | No | 104 | 0.3 | 75 | 27 | 0.36 | 0 |
MAP2K6 | MAP2K6 | P52564 | Dual specificity mitogen-activated protein kinase kinase 6 | chr17 | GO:0060048 | Not Cancer Driver | No | 48 | 0.144 | 55 | 11 | 0.2 | 0 |
MTOR | MTOR | P42345 | Serine/threonine-protein kinase mTOR | chr1 | GO:0060048 | Census, Compendium | Yes | 379 | 0.149 | 296 | 37 | 0.125 | 18 |
MYBPC3 | MYBPC3 | Q14896 | Myosin-binding protein C, cardiac-type | chr11 | GO:0060048 | Not Cancer Driver | No | 178 | 0.14 | 434 | 62 | 0.143 | 64 |
MYH6 | MYH6 | P13533 | Myosin-6 | chr14 | GO:0060048 | Not Cancer Driver | No | 392 | 0.202 | 1112 | 238 | 0.214 | 7 |
MYH7 | MYH7 | P12883 | Myosin-7 | chr14 | GO:0060048 | Not Cancer Driver | No | 464 | 0.24 | 1107 | 276 | 0.249 | 200 |
MYL2 | MYL2 | P10916 | Myosin regulatory light chain 2, ventricular/cardiac muscle isoform | chr12 | GO:0060048 | Not Cancer Driver | No | 44 | 0.265 | 34 | 8 | 0.235 | 6 |
MYL3 | MYL3 | P08590 | Myosin light chain 3 | chr3 | GO:0060048 | Not Cancer Driver | No | 21 | 0.108 | 99 | 9 | 0.091 | 5 |
MYL4_ENST00000572316 | MYL4 | P12829 | Myosin light chain 4 | chr17 | GO:0060048 | Not Cancer Driver | No | 29 | 0.147 | 104 | 11 | 0.106 | 1 |
MYLK2 | MYLK2 | Q9H1R3 | Myosin light chain kinase 2, skeletal/cardiac muscle | chr20 | GO:0060048 | Not Cancer Driver | No | 118 | 0.198 | 277 | 64 | 0.231 | 2 |
NKX2-5 | NKX2-5 | P52952 | Homeobox protein Nkx-2.5 | chr5 | GO:0060048 | Not Cancer Driver | No | 48 | 0.148 | 181 | 22 | 0.122 | 55 |
PIK3CA | PIK3CA | P42336 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | chr3 | GO:0060048 | Census, Compendium | Yes | 1669 | 1.563 | 38 | 11 | 0.289 | 30 |
PPP1R13L_ENST00000360957 | PPP1R13L | Q8WUF5 | RelA-associated inhibitor | chr19 | GO:0060048 | Not Cancer Driver | No | 117 | 0.141 | 657 | 90 | 0.137 | 0 |
RYR2 | RYR2 | Q92736 | Ryanodine receptor 2 | chr1 | GO:0060048 | Not Cancer Driver | No | 1703 | 0.343 | 782 | 281 | 0.359 | 51 |
SCN1B_ENST00000262631 | SCN1B | Q07699 | Sodium channel subunit beta-1 | chr19 | GO:0060048 | Not Cancer Driver | No | 35 | 0.161 | 4 | 1 | 0.25 | 5 |
SCN2B | SCN2B | O60939 | Sodium channel subunit beta-2 | chr11 | GO:0060048 | Not Cancer Driver | No | 46 | 0.214 | 52 | 7 | 0.135 | 2 |
SCN3B_ENST00000299333 | SCN3B | Q9NY72 | Sodium channel subunit beta-3 | chr11 | GO:0060048 | Not Cancer Driver | No | 63 | 0.293 | 16 | 5 | 0.312 | 3 |
SCN4B | SCN4B | Q8IWT1 | Sodium channel subunit beta-4 | chr11 | GO:0060048 | Not Cancer Driver | No | 23 | 0.101 | 46 | 4 | 0.087 | 3 |
SCN5A_ENST00000333535 | SCN5A | Q14524 | Sodium channel protein type 5 subunit alpha | chr3 | GO:0060048 | Not Cancer Driver | No | 491 | 0.244 | 550 | 144 | 0.262 | 190 |
SLC8A1_ENST00000332839 | SLC8A1 | P32418 | Sodium/calcium exchanger 1 | chr2 | GO:0060048 | Not Cancer Driver | No | 305 | 0.313 | 158 | 48 | 0.304 | 0 |
SMAD5_ENST00000509297 | SMAD5 | Q99717 | Mothers against decapentaplegic homolog 5 | chr5 | GO:0060048 | Not Cancer Driver | No | 44 | 0.095 | 172 | 11 | 0.064 | 0 |
TAZ_ENST00000612460 | TAFAZZIN | Q16635 | Tafazzin | chrX | GO:0060048 | Not Cancer Driver | No | 33 | 0.126 | 12 | 0 | 0.0 | 10 |
TCAP | TCAP | O15273 | Telethonin | chr17 | GO:0060048 | Not Cancer Driver | No | 16 | 0.096 | 94 | 10 | 0.106 | 3 |
TNNC1 | TNNC1 | P63316 | Troponin C, slow skeletal and cardiac muscles | chr3 | GO:0060048 | Not Cancer Driver | No | 19 | 0.118 | 67 | 6 | 0.09 | 6 |
TNNI1_ENST00000336092 | TNNI1 | P19237 | Troponin I, slow skeletal muscle | chr1 | GO:0060048 | Not Cancer Driver | No | 34 | 0.182 | 72 | 8 | 0.111 | 0 |
TNNI2_ENST00000381911 | TNNI2 | P48788 | Troponin I, fast skeletal muscle | chr11 | GO:0060048 | Not Cancer Driver | No | 45 | 0.247 | 171 | 44 | 0.257 | 1 |
TNNI3 | TNNI3 | P19429 | Troponin I, cardiac muscle | chr19 | GO:0060048 | Not Cancer Driver | No | 42 | 0.2 | 108 | 19 | 0.176 | 21 |
TNNT2 | TNNT2 | P45379 | Troponin T, cardiac muscle | chr1 | GO:0060048 | Not Cancer Driver | No | 59 | 0.198 | 272 | 53 | 0.195 | 21 |
TPM1_ENST00000403994 | TPM1 | P09493 | Tropomyosin alpha-1 chain | chr15 | GO:0060048 | Not Cancer Driver | No | 33 | 0.116 | 234 | 29 | 0.124 | 8 |
TTN_ENST00000615779 | TTN | Q8WZ42 | Titin | chr2 | GO:0060048 | Not Cancer Driver | No | 7917 | 0.23 | 12926 | 2861 | 0.221 | 10 |
VEGFB | VEGFB | P49765 | Vascular endothelial growth factor B | chr11 | GO:0060048 | Not Cancer Driver | No | 25 | 0.121 | 125 | 22 | 0.176 | 0 |