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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1A2-201 | ATP1A2 | P50993 | Sodium/potassium-transporting ATPase subunit alpha-2 | chr1 | GO:0060048 | Not Cancer Driver | No | 162 | 0.1588235294117647 | 162 | 21 | 0.0205882352941176 | 14 |
ATP1B1-201 | ATP1B1 | P05026 | Sodium/potassium-transporting ATPase subunit beta-1 | chr1 | GO:0060048 | Not Cancer Driver | No | 32 | 0.1056105610561056 | 55 | 6 | 0.0198019801980198 | 0 |
CASQ2-201 | CASQ2 | O14958 | Calsequestrin-2 | chr1 | GO:0060048 | Not Cancer Driver | No | 49 | 0.1228070175438596 | 76 | 8 | 0.0200501253132832 | 4 |
CSRP3-201 | CSRP3 | P50461 | Cysteine and glycine-rich protein 3 | chr11 | GO:0060048 | Not Cancer Driver | No | 23 | 0.1185567010309278 | 31 | 1 | 0.0051546391752577 | 2 |
CXCR4-201 | CXCR4 | P61073 | C-X-C chemokine receptor type 4 | chr2 | GO:0060048 | Census, Compendium | Yes | 45 | 0.1278409090909091 | 5 | 0 | 0.0 | 0 |
DMD-203 | DMD | P11532 | Dystrophin | chrX | GO:0060048 | Not Cancer Driver | No | 638 | 0.1731343283582089 | 1396 | 235 | 0.0637720488466757 | 14 |
GAA-201 | GAA | P10253 | Lysosomal alpha-glucosidase | chr17 | GO:0060048 | Not Cancer Driver | No | 78 | 0.0819327731092437 | 149 | 12 | 0.0126050420168067 | 105 |
GRK2-201 | GRK2 | P25098 | Beta-adrenergic receptor kinase 1 | chr11 | GO:0060048 | Not Cancer Driver | No | 60 | 0.0870827285921625 | 87 | 6 | 0.0087082728592162 | 0 |
KCNE5-201 | KCNE5 | Q9UJ90 | Potassium voltage-gated channel subfamily E regulatory beta subunit 5 | chrX | GO:0060048 | Not Cancer Driver | No | 14 | 0.0985915492957746 | 68 | 8 | 0.056338028169014 | 0 |
KCNH2-201 | KCNH2 | Q12809 | Potassium voltage-gated channel subfamily H member 2 | chr7 | GO:0060048 | Not Cancer Driver | No | 148 | 0.1276962899050906 | 467 | 41 | 0.0353753235547886 | 102 |
KCNQ1-201 | KCNQ1 | P51787 | Potassium voltage-gated channel subfamily KQT member 1 | chr11 | GO:0060048 | Not Cancer Driver | No | 55 | 0.0813609467455621 | 219 | 14 | 0.0207100591715976 | 109 |
MAP2K3-202 | MAP2K3 | P46734 | Dual specificity mitogen-activated protein kinase kinase 3 | chr17 | GO:0060048 | Not Cancer Driver | No | 74 | 0.2132564841498559 | 76 | 19 | 0.0547550432276657 | 0 |
MAP2K6-206 | MAP2K6 | P52564 | Dual specificity mitogen-activated protein kinase kinase 6 | chr17 | GO:0060048 | Not Cancer Driver | No | 28 | 0.0838323353293413 | 55 | 6 | 0.0179640718562874 | 0 |
MTOR-201 | MTOR | P42345 | Serine/threonine-protein kinase mTOR | chr1 | GO:0060048 | Census, Compendium | Yes | 298 | 0.1169085916045508 | 298 | 28 | 0.0109846998823067 | 15 |
MYBPC3-203 | MYBPC3 | Q14896 | Myosin-binding protein C, cardiac-type | chr11 | GO:0060048 | Not Cancer Driver | No | 135 | 0.1059654631083202 | 437 | 56 | 0.0439560439560439 | 60 |
MYH6-201 | MYH6 | P13533 | Myosin-6 | chr14 | GO:0060048 | Not Cancer Driver | No | 310 | 0.1598762248581743 | 1121 | 190 | 0.0979886539453326 | 7 |
MYH7-201 | MYH7 | P12883 | Myosin-7 | chr14 | GO:0060048 | Not Cancer Driver | No | 376 | 0.1943152454780361 | 1108 | 228 | 0.117829457364341 | 168 |
MYL2-201 | MYL2 | P10916 | Myosin regulatory light chain 2, ventricular/cardiac muscle isoform | chr12 | GO:0060048 | Not Cancer Driver | No | 32 | 0.1927710843373494 | 34 | 5 | 0.0301204819277108 | 6 |
MYL3-201 | MYL3 | P08590 | Myosin light chain 3 | chr3 | GO:0060048 | Not Cancer Driver | No | 9 | 0.0461538461538461 | 99 | 2 | 0.0102564102564102 | 5 |
MYL4-202 | MYL4 | P12829 | Myosin light chain 4 | chr17 | GO:0060048 | Not Cancer Driver | No | 18 | 0.0913705583756345 | 104 | 4 | 0.0203045685279187 | 1 |
MYLK2-201 | MYLK2 | Q9H1R3 | Myosin light chain kinase 2, skeletal/cardiac muscle | chr20 | GO:0060048 | Not Cancer Driver | No | 92 | 0.1543624161073825 | 278 | 51 | 0.0855704697986577 | 2 |
NKX2-5-201 | NKX2-5 | P52952 | Homeobox protein Nkx-2.5 | chr5 | GO:0060048 | Not Cancer Driver | No | 43 | 0.132716049382716 | 182 | 19 | 0.0586419753086419 | 52 |
PIK3CA-201 | PIK3CA | P42336 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | chr3 | GO:0060048 | Census, Compendium | Yes | 1425 | 1.3342696629213484 | 38 | 9 | 0.0084269662921348 | 44 |
PPP1R13L-201 | PPP1R13L | Q8WUF5 | RelA-associated inhibitor | chr19 | GO:0060048 | Not Cancer Driver | No | 93 | 0.1123188405797101 | 659 | 75 | 0.0905797101449275 | 0 |
RYR2-201 | RYR2 | Q92736 | Ryanodine receptor 2 | chr1 | GO:0060048 | Not Cancer Driver | No | 1443 | 0.2905174149385947 | 784 | 227 | 0.045701630763036 | 52 |
SCN1B-201 | SCN1B | Q07699 | Sodium channel subunit beta-1 | chr19 | GO:0060048 | Not Cancer Driver | No | 13 | 0.0596330275229357 | 4 | 0 | 0.0 | 7 |
SCN2B-201 | SCN2B | O60939 | Sodium channel subunit beta-2 | chr11 | GO:0060048 | Not Cancer Driver | No | 36 | 0.1674418604651162 | 52 | 6 | 0.027906976744186 | 1 |
SCN3B-201 | SCN3B | Q9NY72 | Sodium channel subunit beta-3 | chr11 | GO:0060048 | Not Cancer Driver | No | 45 | 0.2093023255813953 | 16 | 2 | 0.0093023255813953 | 3 |
SCN4B-201 | SCN4B | Q8IWT1 | Sodium channel subunit beta-4 | chr11 | GO:0060048 | Not Cancer Driver | No | 16 | 0.0701754385964912 | 46 | 2 | 0.0087719298245614 | 3 |
SCN5A-202 | SCN5A | Q14524 | Sodium channel protein type 5 subunit alpha | chr3 | GO:0060048 | Not Cancer Driver | No | 381 | 0.1889880952380952 | 554 | 117 | 0.0580357142857142 | 181 |
SLC8A1-201 | SLC8A1 | P32418 | Sodium/calcium exchanger 1 | chr2 | GO:0060048 | Not Cancer Driver | No | 251 | 0.2579650565262076 | 158 | 40 | 0.0411099691675231 | 0 |
SMAD5-211 | SMAD5 | Q99717 | Mothers against decapentaplegic homolog 5 | chr5 | GO:0060048 | Not Cancer Driver | No | 25 | 0.053763440860215 | 172 | 6 | 0.0129032258064516 | 0 |
TAFAZZIN-215 | TAFAZZIN | Q16635 | Tafazzin | chrX | GO:0060048 | Not Cancer Driver | No | 26 | 0.099236641221374 | 12 | 0 | 0.0 | 10 |
TCAP-201 | TCAP | O15273 | Telethonin | chr17 | GO:0060048 | Not Cancer Driver | No | 18 | 0.1077844311377245 | 95 | 12 | 0.0718562874251497 | 4 |
TNNC1-201 | TNNC1 | P63316 | Troponin C, slow skeletal and cardiac muscles | chr3 | GO:0060048 | Not Cancer Driver | No | 15 | 0.093167701863354 | 67 | 5 | 0.031055900621118 | 6 |
TNNI1-202 | TNNI1 | P19237 | Troponin I, slow skeletal muscle | chr1 | GO:0060048 | Not Cancer Driver | No | 26 | 0.1390374331550802 | 72 | 4 | 0.0213903743315508 | 0 |
TNNI2-204 | TNNI2 | P48788 | Troponin I, fast skeletal muscle | chr11 | GO:0060048 | Not Cancer Driver | No | 36 | 0.1978021978021978 | 171 | 35 | 0.1923076923076923 | 1 |
TNNI3-201 | TNNI3 | P19429 | Troponin I, cardiac muscle | chr19 | GO:0060048 | Not Cancer Driver | No | 34 | 0.1619047619047619 | 109 | 15 | 0.0714285714285714 | 21 |
TNNT2-224 | TNNT2 | P45379 | Troponin T, cardiac muscle | chr1 | GO:0060048 | Not Cancer Driver | No | 40 | 0.1342281879194631 | 274 | 38 | 0.1275167785234899 | 17 |
TPM1-207 | TPM1 | P09493 | Tropomyosin alpha-1 chain | chr15 | GO:0060048 | Not Cancer Driver | No | 21 | 0.0739436619718309 | 236 | 18 | 0.0633802816901408 | 7 |
TTN-215 | TTN | Q8WZ42 | Titin | chr2 | GO:0060048 | Not Cancer Driver | No | 3472 | 0.1010771470160116 | 12945 | 1338 | 0.0389519650655021 | 10 |
VEGFB-201 | VEGFB | P49765 | Vascular endothelial growth factor B | chr11 | GO:0060048 | Not Cancer Driver | No | 15 | 0.072463768115942 | 125 | 13 | 0.0628019323671497 | 0 |