Total number of protein in "GO:0042383" GO term: 95
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC8_ENST00000389817 | ABCC8 | Q09428 | ATP-binding cassette sub-family C member 8 | chr11 | GO:0042383 | Not Cancer Driver | No | 255 | 0.161 | 138 | 23 | 0.167 | 97 |
| ACP1_ENST00000272065 | ACP1 | P24666 | Low molecular weight phosphotyrosine protein phosphatase | chr2 | GO:0042383 | Not Cancer Driver | No | 28 | 0.177 | 13 | 2 | 0.154 | 0 |
| AHNAK | AHNAK | Q09666 | Neuroblast differentiation-associated protein AHNAK | chr11 | GO:0042383 | Not Cancer Driver | No | 805 | 0.137 | 5777 | 794 | 0.137 | 0 |
| AHNAK2 | AHNAK2 | Q8IVF2 | Protein AHNAK2 | chr14 | GO:0042383 | Not Cancer Driver | No | 1074 | 0.185 | 5470 | 1018 | 0.186 | 0 |
| ALOX12 | ALOX12 | P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | chr17 | GO:0042383 | Not Cancer Driver | No | 73 | 0.11 | 73 | 12 | 0.164 | 0 |
| ANK2 | ANK2 | Q01484 | Ankyrin-2 | chr4 | GO:0042383 | Not Cancer Driver | No | 770 | 0.195 | 2844 | 566 | 0.199 | 4 |
| ANK3 | ANK3 | Q12955 | Ankyrin-3 | chr10 | GO:0042383 | Not Cancer Driver | No | 860 | 0.196 | 3054 | 579 | 0.19 | 0 |
| ANXA1_ENST00000257497 | ANXA1 | P04083 | Annexin A1 | chr9 | GO:0042383 | Not Cancer Driver | No | 59 | 0.171 | 61 | 12 | 0.197 | 0 |
| AQP1 | AQP1 | P29972 | Aquaporin-1 | chr7 | GO:0042383 | Not Cancer Driver | No | 39 | 0.145 | 4 | 1 | 0.25 | 0 |
| AQP4 | AQP4 | P55087 | Aquaporin-4 | chr18 | GO:0042383 | Not Cancer Driver | No | 50 | 0.155 | 30 | 9 | 0.3 | 0 |
| ATP1A1_ENST00000295598 | ATP1A1 | P05023 | Sodium/potassium-transporting ATPase subunit alpha-1 | chr1 | GO:0042383 | Census | Yes | 115 | 0.112 | 115 | 16 | 0.139 | 6 |
| ATP1B1 | ATP1B1 | P05026 | Sodium/potassium-transporting ATPase subunit beta-1 | chr1 | GO:0042383 | Not Cancer Driver | No | 38 | 0.125 | 55 | 9 | 0.164 | 0 |
| BGN | BGN | P21810 | Biglycan | chrX | GO:0042383 | Not Cancer Driver | No | 63 | 0.171 | 26 | 3 | 0.115 | 2 |
| BSG | BSG | P35613 | Basigin | chr19 | GO:0042383 | Not Cancer Driver | No | 43 | 0.112 | 123 | 17 | 0.138 | 0 |
| BVES | BVES | Q8NE79 | Blood vessel epicardial substance | chr6 | GO:0042383 | Not Cancer Driver | No | 59 | 0.164 | 65 | 15 | 0.231 | 1 |
| CACNG1 | CACNG1 | Q06432 | Voltage-dependent calcium channel gamma-1 subunit | chr17 | GO:0042383 | Not Cancer Driver | No | 36 | 0.162 | 0 | 0 | 0.0 | 0 |
| CAMK2D_ENST00000342666 | CAMK2D | Q13557 | Calcium/calmodulin-dependent protein kinase type II subunit delta | chr4 | GO:0042383 | Not Cancer Driver | No | 57 | 0.114 | 84 | 10 | 0.119 | 0 |
| CAV1 | CAV1 | Q03135 | Caveolin-1 | chr7 | GO:0042383 | Not Cancer Driver | No | 30 | 0.169 | 2 | 0 | 0.0 | 0 |
| CAV2 | CAV2 | P51636 | Caveolin-2 | chr7 | GO:0042383 | Not Cancer Driver | No | 20 | 0.123 | 5 | 2 | 0.4 | 0 |
| CAV3 | CAV3 | P56539 | Caveolin-3 | chr3 | GO:0042383 | Not Cancer Driver | No | 27 | 0.179 | 0 | 0 | 0.0 | 25 |
| CAVIN4 | CAVIN4 | Q5BKX8 | Caveolae-associated protein 4 | chr9 | GO:0042383 | Not Cancer Driver | No | 59 | 0.162 | 286 | 45 | 0.157 | 0 |
| CCDC78 | CCDC78 | A2IDD5 | Coiled-coil domain-containing protein 78 | chr16 | GO:0042383 | Not Cancer Driver | No | 43 | 0.098 | 307 | 30 | 0.098 | 0 |
| CDH2 | CDH2 | P19022 | Cadherin-2 | chr18 | GO:0042383 | Not Cancer Driver | No | 238 | 0.263 | 461 | 130 | 0.282 | 7 |
| CIB1_ENST00000328649 | CIB1 | Q99828 | Calcium and integrin-binding protein 1 | chr15 | GO:0042383 | Not Cancer Driver | No | 24 | 0.126 | 6 | 1 | 0.167 | 0 |
| CIB2 | CIB2 | O75838 | Calcium and integrin-binding family member 2 | chr15 | GO:0042383 | Not Cancer Driver | No | 25 | 0.134 | 7 | 0 | 0.0 | 5 |
| CLCN1 | CLCN1 | P35523 | Chloride channel protein 1 | chr7 | GO:0042383 | Not Cancer Driver | No | 224 | 0.227 | 355 | 77 | 0.217 | 54 |
| COL6A1 | COL6A1 | P12109 | Collagen alpha-1(VI) chain | chr21 | GO:0042383 | Not Cancer Driver | No | 145 | 0.141 | 434 | 61 | 0.141 | 12 |
| COL6A2 | COL6A2 | P12110 | Collagen alpha-2(VI) chain | chr21 | GO:0042383 | Not Cancer Driver | No | 220 | 0.216 | 460 | 97 | 0.211 | 10 |
| COL6A3 | COL6A3 | P12111 | Collagen alpha-3(VI) chain | chr2 | GO:0042383 | Not Cancer Driver | No | 690 | 0.217 | 696 | 146 | 0.21 | 14 |
| CORO1C_ENST00000541050 | CORO1C | Q9ULV4 | Coronin-1C | chr12 | GO:0042383 | Not Cancer Driver | No | 61 | 0.129 | 84 | 13 | 0.155 | 0 |
| DAG1_ENST00000515359 | DAG1 | Q14118 | Dystroglycan 1 | chr3 | GO:0042383 | Not Cancer Driver | No | 102 | 0.114 | 485 | 61 | 0.126 | 4 |
| DES | DES | P17661 | Desmin | chr2 | GO:0042383 | Not Cancer Driver | No | 71 | 0.151 | 264 | 41 | 0.155 | 35 |
| DLG1_ENST00000419354 | DLG1 | Q12959 | Disks large homolog 1 | chr3 | GO:0042383 | Not Cancer Driver | No | 120 | 0.133 | 460 | 67 | 0.146 | 0 |
| DMD | DMD | P11532 | Dystrophin | chrX | GO:0042383 | Not Cancer Driver | No | 895 | 0.243 | 1399 | 329 | 0.235 | 14 |
| DTNBP1 | DTNBP1 | Q96EV8 | Dysbindin | chr6 | GO:0042383 | Not Cancer Driver | No | 49 | 0.14 | 210 | 25 | 0.119 | 0 |
| DYSF_ENST00000258104 | DYSF | O75923 | Dysferlin | chr2 | GO:0042383 | Not Cancer Driver | No | 467 | 0.225 | 329 | 64 | 0.195 | 55 |
| FGF6 | FGF6 | P10767 | Fibroblast growth factor 6 | chr12 | GO:0042383 | Not Cancer Driver | No | 65 | 0.312 | 0 | 0 | 0.0 | 0 |
| FKRP_ENST00000391909 | FKRP | Q9H9S5 | Ribitol 5-phosphate transferase FKRP | chr19 | GO:0042383 | Not Cancer Driver | No | 37 | 0.075 | 22 | 2 | 0.091 | 32 |
| FLNC | FLNC | Q14315 | Filamin-C | chr7 | GO:0042383 | Not Cancer Driver | No | 546 | 0.2 | 1442 | 288 | 0.2 | 7 |
| FLOT1 | FLOT1 | O75955 | Flotillin-1 | chr6 | GO:0042383 | Not Cancer Driver | No | 43 | 0.101 | 122 | 15 | 0.123 | 0 |
| FXYD1_ENST00000455515 | FXYD1 | O00168 | Phospholemman | chr19 | GO:0042383 | Not Cancer Driver | No | 10 | 0.109 | 22 | 4 | 0.182 | 0 |
| GHRHR | GHRHR | Q02643 | Growth hormone-releasing hormone receptor | chr7 | GO:0042383 | Not Cancer Driver | No | 41 | 0.097 | 3 | 0 | 0.0 | 5 |
| ITGB1_ENST00000302278 | ITGB1 | P05556 | Integrin beta-1 | chr10 | GO:0042383 | Not Cancer Driver | No | 103 | 0.129 | 84 | 10 | 0.119 | 0 |
| KCNB1_ENST00000635465 | KCNB1 | Q14721 | Potassium voltage-gated channel subfamily B member 1 | chr20 | GO:0042383 | Not Cancer Driver | No | 192 | 0.224 | 417 | 100 | 0.24 | 6 |
| KCND3 | KCND3 | Q9UK17 | Potassium voltage-gated channel subfamily D member 3 | chr1 | GO:0042383 | Not Cancer Driver | No | 172 | 0.263 | 202 | 44 | 0.218 | 5 |
| KCNJ8 | KCNJ8 | Q15842 | ATP-sensitive inward rectifier potassium channel 8 | chr12 | GO:0042383 | Not Cancer Driver | No | 99 | 0.233 | 68 | 22 | 0.324 | 1 |
| KRT19 | KRT19 | P08727 | Keratin, type I cytoskeletal 19 | chr17 | GO:0042383 | Not Cancer Driver | No | 57 | 0.142 | 165 | 19 | 0.115 | 0 |
| LAMA2 | LAMA2 | P24043 | Laminin subunit alpha-2 | chr6 | GO:0042383 | Not Cancer Driver | No | 629 | 0.201 | 658 | 127 | 0.193 | 11 |
| LAMP1 | LAMP1 | P11279 | Lysosome-associated membrane glycoprotein 1 | chr13 | GO:0042383 | Not Cancer Driver | No | 47 | 0.113 | 93 | 10 | 0.108 | 0 |
| MLIP_ENST00000274897 | MLIP | Q5VWP3 | Muscular LMNA-interacting protein | chr6 | GO:0042383 | Not Cancer Driver | No | 99 | 0.216 | 406 | 87 | 0.214 | 0 |
| MYOT | MYOT | Q9UBF9 | Myotilin | chr5 | GO:0042383 | Not Cancer Driver | No | 78 | 0.157 | 280 | 39 | 0.139 | 6 |
| NCSTN | NCSTN | Q92542 | Nicastrin | chr1 | GO:0042383 | Not Cancer Driver | No | 94 | 0.133 | 72 | 11 | 0.153 | 1 |
| NOS1AP | NOS1AP | O75052 | Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein | chr1 | GO:0042383 | Not Cancer Driver | No | 94 | 0.186 | 255 | 53 | 0.208 | 1 |
| NOS1_ENST00000317775 | NOS1 | P29475 | Nitric oxide synthase, brain | chr12 | GO:0042383 | Not Cancer Driver | No | 405 | 0.282 | 342 | 99 | 0.289 | 0 |
| OBSCN_ENST00000422127 | OBSCN | Q5VST9 | Obscurin | chr1 | GO:0042383 | Not Cancer Driver | No | 1208 | 0.152 | 2623 | 368 | 0.14 | 0 |
| OPRM1_ENST00000330432 | OPRM1 | P35372 | Mu-type opioid receptor | chr6 | GO:0042383 | Not Cancer Driver | No | 107 | 0.268 | 58 | 27 | 0.466 | 0 |
| PDE9A | PDE9A | O76083 | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | chr21 | GO:0042383 | Not Cancer Driver | No | 91 | 0.153 | 160 | 34 | 0.212 | 0 |
| PGM5 | PGM5 | Q15124 | Phosphoglucomutase-like protein 5 | chr9 | GO:0042383 | Not Cancer Driver | No | 165 | 0.291 | 54 | 4 | 0.074 | 0 |
| PLEC | PLEC | Q15149 | Plectin | chr8 | GO:0042383 | Not Cancer Driver | No | 677 | 0.145 | 2130 | 272 | 0.128 | 2 |
| POPDC2 | POPDC2 | Q9HBU9 | Popeye domain-containing protein 2 | chr3 | GO:0042383 | Not Cancer Driver | No | 49 | 0.135 | 91 | 10 | 0.11 | 0 |
| POPDC3 | POPDC3 | Q9HBV1 | Popeye domain-containing protein 3 | chr6 | GO:0042383 | Not Cancer Driver | No | 68 | 0.234 | 0 | 0 | 0.0 | 3 |
| PPP3CA | PPP3CA | Q08209 | Protein phosphatase 3 catalytic subunit alpha | chr4 | GO:0042383 | Compendium | Yes | 85 | 0.163 | 140 | 27 | 0.193 | 7 |
| PPP3R1 | PPP3R1 | P63098 | Calcineurin subunit B type 1 | chr2 | GO:0042383 | Not Cancer Driver | No | 19 | 0.112 | 1 | 0 | 0.0 | 0 |
| PSEN1 | PSEN1 | P49768 | Presenilin-1 | chr14 | GO:0042383 | Not Cancer Driver | No | 61 | 0.131 | 134 | 21 | 0.157 | 96 |
| RYR1 | RYR1 | P21817 | Ryanodine receptor 1 | chr19 | GO:0042383 | Not Cancer Driver | No | 1003 | 0.199 | 1186 | 233 | 0.196 | 154 |
| RYR2 | RYR2 | Q92736 | Ryanodine receptor 2 | chr1 | GO:0042383 | Not Cancer Driver | No | 1703 | 0.343 | 782 | 281 | 0.359 | 51 |
| RYR3 | RYR3 | Q15413 | Ryanodine receptor 3 | chr15 | GO:0042383 | Not Cancer Driver | No | 1079 | 0.222 | 649 | 162 | 0.25 | 0 |
| SCN5A_ENST00000333535 | SCN5A | Q14524 | Sodium channel protein type 5 subunit alpha | chr3 | GO:0042383 | Not Cancer Driver | No | 491 | 0.244 | 550 | 144 | 0.262 | 190 |
| SGCA | SGCA | Q16586 | Alpha-sarcoglycan | chr17 | GO:0042383 | Not Cancer Driver | No | 58 | 0.15 | 82 | 9 | 0.11 | 29 |
| SGCB | SGCB | Q16585 | Beta-sarcoglycan | chr4 | GO:0042383 | Not Cancer Driver | No | 36 | 0.113 | 80 | 8 | 0.1 | 12 |
| SGCD_ENST00000435422 | SGCD | Q92629 | Delta-sarcoglycan | chr5 | GO:0042383 | Not Cancer Driver | No | 67 | 0.232 | 74 | 20 | 0.27 | 2 |
| SGCE_ENST00000265735 | SGCE | O43556 | Epsilon-sarcoglycan | chr7 | GO:0042383 | Not Cancer Driver | No | 69 | 0.158 | 111 | 13 | 0.117 | 13 |
| SGCG | SGCG | Q13326 | Gamma-sarcoglycan | chr13 | GO:0042383 | Not Cancer Driver | No | 64 | 0.22 | 60 | 12 | 0.2 | 4 |
| SGCZ | SGCZ | Q96LD1 | Zeta-sarcoglycan | chr8 | GO:0042383 | Not Cancer Driver | No | 131 | 0.438 | 58 | 15 | 0.259 | 0 |
| SLC27A6_ENST00000395266 | SLC27A6 | Q9Y2P4 | Long-chain fatty acid transport protein 6 | chr5 | GO:0042383 | Not Cancer Driver | No | 187 | 0.302 | 2 | 1 | 0.5 | 0 |
| SLC2A1 | SLC2A1 | P11166 | Solute carrier family 2, facilitated glucose transporter member 1 | chr1 | GO:0042383 | Not Cancer Driver | No | 51 | 0.104 | 13 | 2 | 0.154 | 48 |
| SLC2A4 | SLC2A4 | P14672 | Solute carrier family 2, facilitated glucose transporter member 4 | chr17 | GO:0042383 | Not Cancer Driver | No | 71 | 0.139 | 43 | 8 | 0.186 | 1 |
| SLC2A5 | SLC2A5 | P22732 | Solute carrier family 2, facilitated glucose transporter member 5 | chr1 | GO:0042383 | Not Cancer Driver | No | 73 | 0.146 | 12 | 4 | 0.333 | 0 |
| SLC38A2 | SLC38A2 | Q96QD8 | Sodium-coupled neutral amino acid transporter 2 | chr12 | GO:0042383 | Not Cancer Driver | No | 60 | 0.119 | 9 | 1 | 0.111 | 0 |
| SLC8A1_ENST00000332839 | SLC8A1 | P32418 | Sodium/calcium exchanger 1 | chr2 | GO:0042383 | Not Cancer Driver | No | 305 | 0.313 | 158 | 48 | 0.304 | 0 |
| SLC8A2 | SLC8A2 | Q9UPR5 | Sodium/calcium exchanger 2 | chr19 | GO:0042383 | Not Cancer Driver | No | 117 | 0.127 | 143 | 19 | 0.133 | 0 |
| SLC8A3 | SLC8A3 | P57103 | Sodium/calcium exchanger 3 | chr14 | GO:0042383 | Not Cancer Driver | No | 263 | 0.284 | 152 | 35 | 0.23 | 0 |
| SLMAP | SLMAP | Q14BN4 | Sarcolemmal membrane-associated protein | chr3 | GO:0042383 | Not Cancer Driver | No | 77 | 0.093 | 464 | 38 | 0.082 | 0 |
| SMPD4 | SMPD4 | Q9NXE4 | Sphingomyelin phosphodiesterase 4 | chr2 | GO:0042383 | Not Cancer Driver | No | 114 | 0.132 | 80 | 12 | 0.15 | 1 |
| SNTA1 | SNTA1 | Q13424 | Alpha-1-syntrophin | chr20 | GO:0042383 | Not Cancer Driver | No | 43 | 0.085 | 238 | 14 | 0.059 | 2 |
| SNTB1 | SNTB1 | Q13884 | Beta-1-syntrophin | chr8 | GO:0042383 | Not Cancer Driver | No | 74 | 0.138 | 189 | 25 | 0.132 | 0 |
| SNTG2 | SNTG2 | Q9NY99 | Gamma-2-syntrophin | chr2 | GO:0042383 | Not Cancer Driver | No | 158 | 0.293 | 109 | 37 | 0.339 | 0 |
| SSPN | SSPN | Q14714 | Sarcospan | chr12 | GO:0042383 | Not Cancer Driver | No | 20 | 0.082 | 39 | 0 | 0.0 | 0 |
| STAC2 | STAC2 | Q6ZMT1 | SH3 and cysteine-rich domain-containing protein 2 | chr17 | GO:0042383 | Not Cancer Driver | No | 56 | 0.136 | 228 | 36 | 0.158 | 0 |
| SYNC | SYNC | Q9H7C4 | Syncoilin | chr1 | GO:0042383 | Not Cancer Driver | No | 30 | 0.062 | 358 | 22 | 0.061 | 0 |
| SYNM | SYNM | O15061 | Synemin | chr15 | GO:0042383 | Not Cancer Driver | No | 156 | 0.1 | 1244 | 131 | 0.105 | 0 |
| TRIM72 | TRIM72 | Q6ZMU5 | Tripartite motif-containing protein 72 | chr16 | GO:0042383 | Not Cancer Driver | No | 54 | 0.113 | 69 | 14 | 0.203 | 0 |
| UTRN | UTRN | P46939 | Utrophin | chr6 | GO:0042383 | Not Cancer Driver | No | 476 | 0.139 | 1283 | 183 | 0.143 | 0 |
| VCAM1 | VCAM1 | P19320 | Vascular cell adhesion protein 1 | chr1 | GO:0042383 | Not Cancer Driver | No | 188 | 0.254 | 110 | 28 | 0.255 | 0 |
| VCL | VCL | P18206 | Vinculin | chr10 | GO:0042383 | Not Cancer Driver | No | 114 | 0.101 | 673 | 80 | 0.119 | 2 |