Total number of protein in "GO:0007517" GO term: 98
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRB1_ENST00000323289 | ADGRB1 | O14514 | Adhesion G protein-coupled receptor B1 | chr8 | GO:0007517 | Compendium | Yes | 213 | 0.134 | 485 | 47 | 0.097 | 0 |
ALX4 | ALX4 | Q9H161 | Homeobox protein aristaless-like 4 | chr11 | GO:0007517 | Not Cancer Driver | No | 98 | 0.238 | 320 | 77 | 0.241 | 4 |
ANKRD2 | ANKRD2 | Q9GZV1 | Ankyrin repeat domain-containing protein 2 | chr10 | GO:0007517 | Not Cancer Driver | No | 34 | 0.094 | 192 | 18 | 0.094 | 0 |
ASS1_ENST00000352480 | ASS1 | P00966 | Argininosuccinate synthase | chr9 | GO:0007517 | Not Cancer Driver | No | 65 | 0.158 | 63 | 8 | 0.127 | 86 |
BASP1_ENST00000616743 | BASP1 | P80723 | Brain acid soluble protein 1 | chr5 | GO:0007517 | Not Cancer Driver | No | 39 | 0.172 | 227 | 39 | 0.172 | 0 |
BTBD1 | BTBD1 | Q9H0C5 | BTB/POZ domain-containing protein 1 | chr15 | GO:0007517 | Not Cancer Driver | No | 48 | 0.1 | 50 | 1 | 0.02 | 0 |
BVES | BVES | Q8NE79 | Blood vessel epicardial substance | chr6 | GO:0007517 | Not Cancer Driver | No | 59 | 0.164 | 65 | 15 | 0.231 | 1 |
CACNA1H | CACNA1H | O95180 | Voltage-dependent T-type calcium channel subunit alpha-1H | chr16 | GO:0007517 | Not Cancer Driver | No | 323 | 0.137 | 1045 | 141 | 0.135 | 18 |
CAPN3 | CAPN3 | P20807 | Calpain-3 | chr15 | GO:0007517 | Not Cancer Driver | No | 111 | 0.135 | 168 | 11 | 0.065 | 52 |
CAV3 | CAV3 | P56539 | Caveolin-3 | chr3 | GO:0007517 | Not Cancer Driver | No | 27 | 0.179 | 0 | 0 | 0.0 | 25 |
CAVIN4 | CAVIN4 | Q5BKX8 | Caveolae-associated protein 4 | chr9 | GO:0007517 | Not Cancer Driver | No | 59 | 0.162 | 286 | 45 | 0.157 | 0 |
CD164 | CD164 | Q04900 | Sialomucin core protein 24 | chr6 | GO:0007517 | Not Cancer Driver | No | 14 | 0.071 | 64 | 4 | 0.062 | 0 |
CENPF | CENPF | P49454 | Centromere protein F | chr1 | GO:0007517 | Not Cancer Driver | No | 387 | 0.124 | 2136 | 260 | 0.122 | 0 |
CHD2 | CHD2 | O14647 | Chromodomain-helicase-DNA-binding protein 2 | chr15 | GO:0007517 | Census, Compendium | Yes | 222 | 0.121 | 1051 | 136 | 0.129 | 2 |
CHKB | CHKB | Q9Y259 | Choline/ethanolamine kinase | chr22 | GO:0007517 | Not Cancer Driver | No | 42 | 0.106 | 37 | 3 | 0.081 | 2 |
CHODL | CHODL | Q9H9P2 | Chondrolectin | chr21 | GO:0007517 | Not Cancer Driver | No | 50 | 0.183 | 45 | 7 | 0.156 | 0 |
COL6A3 | COL6A3 | P12111 | Collagen alpha-3(VI) chain | chr2 | GO:0007517 | Not Cancer Driver | No | 690 | 0.217 | 696 | 146 | 0.21 | 14 |
COPRS | COPRS | Q9NQ92 | Coordinator of PRMT5 and differentiation stimulator | chr17 | GO:0007517 | Not Cancer Driver | No | 15 | 0.082 | 181 | 15 | 0.083 | 0 |
CRYAB_ENST00000616970 | CRYAB | P02511 | Alpha-crystallin B chain | chr11 | GO:0007517 | Not Cancer Driver | No | 22 | 0.126 | 59 | 11 | 0.186 | 4 |
CTF1 | CTF1 | Q16619 | Cardiotrophin-1 | chr16 | GO:0007517 | Not Cancer Driver | No | 6 | 0.03 | 90 | 4 | 0.044 | 0 |
CXCL10 | CXCL10 | P02778 | C-X-C motif chemokine 10 | chr4 | GO:0007517 | Not Cancer Driver | No | 19 | 0.194 | 12 | 4 | 0.333 | 0 |
DISP1 | DISP1 | Q96F81 | Protein dispatched homolog 1 | chr1 | GO:0007517 | Not Cancer Driver | No | 212 | 0.139 | 252 | 35 | 0.139 | 0 |
DMD | DMD | P11532 | Dystrophin | chrX | GO:0007517 | Not Cancer Driver | No | 895 | 0.243 | 1399 | 329 | 0.235 | 14 |
EGR3 | EGR3 | Q06889 | Early growth response protein 3 | chr8 | GO:0007517 | Not Cancer Driver | No | 60 | 0.155 | 252 | 46 | 0.183 | 0 |
EID2 | EID2 | Q8N6I1 | EP300-interacting inhibitor of differentiation 2 | chr19 | GO:0007517 | Not Cancer Driver | No | 18 | 0.076 | 136 | 8 | 0.059 | 0 |
EID2B | EID2B | Q96D98 | EP300-interacting inhibitor of differentiation 2B | chr19 | GO:0007517 | Not Cancer Driver | No | 9 | 0.056 | 90 | 2 | 0.022 | 0 |
EMD | EMD | P50402 | Emerin | chrX | GO:0007517 | Not Cancer Driver | No | 42 | 0.165 | 160 | 28 | 0.175 | 4 |
ETV1 | ETV1 | P50549 | ETS translocation variant 1 | chr7 | GO:0007517 | Census | Yes | 100 | 0.21 | 282 | 66 | 0.234 | 0 |
EVC | EVC | P57679 | Ellis-van Creveld syndrome protein | chr4 | GO:0007517 | Not Cancer Driver | No | 143 | 0.144 | 373 | 60 | 0.161 | 4 |
FGFRL1_ENST00000264748 | FGFRL1 | Q8N441 | Fibroblast growth factor receptor-like 1 | chr4 | GO:0007517 | Not Cancer Driver | No | 74 | 0.147 | 278 | 34 | 0.122 | 0 |
FHL1_ENST00000345434 | FHL1 | Q13642 | Four and a half LIM domains protein 1 | chrX | GO:0007517 | Not Cancer Driver | No | 56 | 0.173 | 51 | 7 | 0.137 | 13 |
FHL3 | FHL3 | Q13643 | Four and a half LIM domains protein 3 | chr1 | GO:0007517 | Not Cancer Driver | No | 33 | 0.118 | 0 | 0 | 0.0 | 0 |
FKTN_ENST00000602661 | FKTN | O75072 | Ribitol-5-phosphate transferase FKTN | chr9 | GO:0007517 | Not Cancer Driver | No | 51 | 0.111 | 0 | 0 | 0.0 | 10 |
FOXK1 | FOXK1 | P85037 | Forkhead box protein K1 | chr7 | GO:0007517 | Not Cancer Driver | No | 97 | 0.132 | 511 | 65 | 0.127 | 0 |
FOXL2 | FOXL2 | P58012 | Forkhead box protein L2 | chr3 | GO:0007517 | Census, Compendium | Yes | 39 | 0.104 | 257 | 20 | 0.078 | 26 |
FOXO4 | FOXO4 | P98177 | Forkhead box protein O4 | chrX | GO:0007517 | Census | Yes | 75 | 0.149 | 441 | 61 | 0.138 | 0 |
FRG1 | FRG1 | Q14331 | Protein FRG1 | chr4 | GO:0007517 | Not Cancer Driver | No | 75 | 0.291 | 95 | 39 | 0.411 | 0 |
FXR1 | FXR1 | P51114 | Fragile X mental retardation syndrome-related protein 1 | chr3 | GO:0007517 | Not Cancer Driver | No | 88 | 0.142 | 312 | 53 | 0.17 | 0 |
HBEGF | HBEGF | Q99075 | Proheparin-binding EGF-like growth factor | chr5 | GO:0007517 | Not Cancer Driver | No | 16 | 0.077 | 63 | 3 | 0.048 | 0 |
HIST1H1B | H1-5 | P16401 | Histone H1.5 | chr6 | GO:0007517 | Not Cancer Driver | No | 66 | 0.292 | 224 | 66 | 0.295 | 0 |
ID3 | ID3 | Q02535 | DNA-binding protein inhibitor ID-3 | chr1 | GO:0007517 | Census, Compendium | Yes | 14 | 0.118 | 34 | 4 | 0.118 | 0 |
IGF1_ENST00000307046 | IGF1 | P05019 | Insulin-like growth factor I | chr12 | GO:0007517 | Not Cancer Driver | No | 45 | 0.231 | 87 | 23 | 0.264 | 0 |
ITGA11 | ITGA11 | Q9UKX5 | Integrin alpha-11 | chr15 | GO:0007517 | Not Cancer Driver | No | 167 | 0.141 | 104 | 13 | 0.125 | 0 |
ITGA7_ENST00000555728 | ITGA7 | Q13683 | Integrin alpha-7 | chr12 | GO:0007517 | Not Cancer Driver | No | 205 | 0.174 | 283 | 48 | 0.17 | 0 |
ITGB1BP2 | ITGB1BP2 | Q9UKP3 | Integrin beta-1-binding protein 2 | chrX | GO:0007517 | Not Cancer Driver | No | 51 | 0.147 | 137 | 22 | 0.161 | 0 |
JPH1 | JPH1 | Q9HDC5 | Junctophilin-1 | chr8 | GO:0007517 | Not Cancer Driver | No | 131 | 0.198 | 421 | 89 | 0.211 | 0 |
KMT5B_ENST00000615954 | KMT5B | Q4FZB7 | Histone-lysine N-methyltransferase KMT5B | chr11 | GO:0007517 | Not Cancer Driver | No | 147 | 0.166 | 659 | 113 | 0.171 | 0 |
LAMA2 | LAMA2 | P24043 | Laminin subunit alpha-2 | chr6 | GO:0007517 | Not Cancer Driver | No | 629 | 0.201 | 658 | 127 | 0.193 | 11 |
LAMA5 | LAMA5 | O15230 | Laminin subunit alpha-5 | chr20 | GO:0007517 | Not Cancer Driver | No | 431 | 0.117 | 701 | 90 | 0.128 | 0 |
LBX1 | LBX1 | P52954 | Transcription factor LBX1 | chr10 | GO:0007517 | Not Cancer Driver | No | 26 | 0.093 | 181 | 18 | 0.099 | 0 |
MAPK12 | MAPK12 | P53778 | Mitogen-activated protein kinase 12 | chr22 | GO:0007517 | Not Cancer Driver | No | 31 | 0.084 | 63 | 5 | 0.079 | 0 |
MEF2A_ENST00000354410 | MEF2A | Q02078 | Myocyte-specific enhancer factor 2A | chr15 | GO:0007517 | Not Cancer Driver | No | 62 | 0.122 | 454 | 56 | 0.123 | 0 |
MEF2C_ENST00000504921 | MEF2C | Q06413 | Myocyte-specific enhancer factor 2C | chr5 | GO:0007517 | Not Cancer Driver | No | 92 | 0.195 | 408 | 81 | 0.199 | 0 |
MEF2D | MEF2D | Q14814 | Myocyte-specific enhancer factor 2D | chr1 | GO:0007517 | Not Cancer Driver | No | 72 | 0.138 | 455 | 67 | 0.147 | 0 |
MKX | MKX | Q8IYA7 | Homeobox protein Mohawk | chr10 | GO:0007517 | Not Cancer Driver | No | 87 | 0.247 | 288 | 81 | 0.281 | 0 |
MRTFB | MRTFB | Q9ULH7 | Myocardin-related transcription factor B | chr16 | GO:0007517 | Not Cancer Driver | No | 124 | 0.114 | 1041 | 116 | 0.111 | 0 |
MSC | MSC | O60682 | Musculin | chr8 | GO:0007517 | Not Cancer Driver | No | 47 | 0.228 | 173 | 41 | 0.237 | 0 |
MSTN | MSTN | O14793 | Growth/differentiation factor 8 | chr2 | GO:0007517 | Not Cancer Driver | No | 68 | 0.181 | 64 | 11 | 0.172 | 0 |
MSX1 | MSX1 | P28360 | Homeobox protein MSX-1 | chr4 | GO:0007517 | Not Cancer Driver | No | 39 | 0.129 | 197 | 16 | 0.081 | 7 |
MYF5 | MYF5 | P13349 | Myogenic factor 5 | chr12 | GO:0007517 | Not Cancer Driver | No | 103 | 0.404 | 122 | 60 | 0.492 | 1 |
MYH3 | MYH3 | P11055 | Myosin-3 | chr17 | GO:0007517 | Not Cancer Driver | No | 312 | 0.161 | 967 | 179 | 0.185 | 14 |
MYH6 | MYH6 | P13533 | Myosin-6 | chr14 | GO:0007517 | Not Cancer Driver | No | 392 | 0.202 | 1112 | 238 | 0.214 | 7 |
MYMK | MYMK | A6NI61 | Protein myomaker | chr9 | GO:0007517 | Not Cancer Driver | No | 32 | 0.145 | 0 | 0 | 0.0 | 3 |
MYOD1 | MYOD1 | P15172 | Myoblast determination protein 1 | chr11 | GO:0007517 | Census | Yes | 45 | 0.141 | 246 | 33 | 0.134 | 0 |
NEB_ENST00000172853 | NEB | P20929 | Nebulin | chr2 | GO:0007517 | Not Cancer Driver | No | 1188 | 0.178 | 1984 | 355 | 0.179 | 0 |
PAX3_ENST00000350526 | PAX3 | P23760 | Paired box protein Pax-3 | chr2 | GO:0007517 | Census | Yes | 113 | 0.236 | 391 | 95 | 0.243 | 28 |
PAX7_ENST00000420770 | PAX7 | P23759 | Paired box protein Pax-7 | chr1 | GO:0007517 | Census | Yes | 97 | 0.192 | 401 | 77 | 0.192 | 1 |
PAXBP1 | PAXBP1 | Q9Y5B6 | PAX3- and PAX7-binding protein 1 | chr21 | GO:0007517 | Not Cancer Driver | No | 96 | 0.105 | 532 | 55 | 0.103 | 0 |
PITX1_ENST00000506438 | PITX1 | P78337 | Pituitary homeobox 1 | chr5 | GO:0007517 | Not Cancer Driver | No | 37 | 0.118 | 191 | 20 | 0.105 | 1 |
PRR14_ENST00000300835 | PRR14 | Q9BWN1 | Proline-rich protein 14 | chr16 | GO:0007517 | Compendium | Yes | 81 | 0.138 | 571 | 78 | 0.137 | 0 |
SGCA | SGCA | Q16586 | Alpha-sarcoglycan | chr17 | GO:0007517 | Not Cancer Driver | No | 58 | 0.15 | 82 | 9 | 0.11 | 29 |
SGCB | SGCB | Q16585 | Beta-sarcoglycan | chr4 | GO:0007517 | Not Cancer Driver | No | 36 | 0.113 | 80 | 8 | 0.1 | 12 |
SGCD_ENST00000435422 | SGCD | Q92629 | Delta-sarcoglycan | chr5 | GO:0007517 | Not Cancer Driver | No | 67 | 0.232 | 74 | 20 | 0.27 | 2 |
SGCE_ENST00000265735 | SGCE | O43556 | Epsilon-sarcoglycan | chr7 | GO:0007517 | Not Cancer Driver | No | 69 | 0.158 | 111 | 13 | 0.117 | 13 |
SGCG | SGCG | Q13326 | Gamma-sarcoglycan | chr13 | GO:0007517 | Not Cancer Driver | No | 64 | 0.22 | 60 | 12 | 0.2 | 4 |
SIRT1 | SIRT1 | Q96EB6 | NAD-dependent protein deacetylase sirtuin-1 | chr10 | GO:0007517 | Not Cancer Driver | No | 70 | 0.094 | 435 | 31 | 0.071 | 0 |
SMTN_ENST00000347557 | SMTN | P53814 | Smoothelin | chr22 | GO:0007517 | Not Cancer Driver | No | 121 | 0.132 | 755 | 93 | 0.123 | 0 |
SOX6_ENST00000528429 | SOX6 | P35712 | Transcription factor SOX-6 | chr11 | GO:0007517 | Not Cancer Driver | No | 130 | 0.157 | 744 | 118 | 0.159 | 0 |
SPEG | SPEG | Q15772 | Striated muscle preferentially expressed protein kinase | chr2 | GO:0007517 | Not Cancer Driver | No | 405 | 0.124 | 2004 | 219 | 0.109 | 1 |
SRI | SRI | P30626 | Sorcin | chr7 | GO:0007517 | Not Cancer Driver | No | 15 | 0.076 | 32 | 2 | 0.062 | 0 |
STRA6_ENST00000323940 | STRA6 | Q9BX79 | Receptor for retinol uptake STRA6 | chr15 | GO:0007517 | Not Cancer Driver | No | 77 | 0.115 | 84 | 14 | 0.167 | 6 |
TAGLN_ENST00000530649 | TAGLN | Q01995 | Transgelin | chr11 | GO:0007517 | Not Cancer Driver | No | 20 | 0.1 | 94 | 12 | 0.128 | 0 |
TBX1_ENST00000329705 | TBX1 | O43435 | T-box transcription factor TBX1 | chr22 | GO:0007517 | Not Cancer Driver | No | 35 | 0.088 | 197 | 12 | 0.061 | 4 |
TCF12_ENST00000267811 | TCF12 | Q99081 | Transcription factor 12 | chr15 | GO:0007517 | Census | Yes | 105 | 0.154 | 680 | 105 | 0.154 | 3 |
TCF21 | TCF21 | O43680 | Transcription factor 21 | chr6 | GO:0007517 | Not Cancer Driver | No | 55 | 0.307 | 120 | 40 | 0.333 | 0 |
TCF23 | TCF23 | Q7RTU1 | Transcription factor 23 | chr2 | GO:0007517 | Not Cancer Driver | No | 45 | 0.21 | 156 | 33 | 0.212 | 0 |
TEAD4 | TEAD4 | Q15561 | Transcriptional enhancer factor TEF-3 | chr12 | GO:0007517 | Not Cancer Driver | No | 72 | 0.166 | 171 | 34 | 0.199 | 0 |
TRIM72 | TRIM72 | Q6ZMU5 | Tripartite motif-containing protein 72 | chr16 | GO:0007517 | Not Cancer Driver | No | 54 | 0.113 | 69 | 14 | 0.203 | 0 |
TWIST1 | TWIST1 | Q15672 | Twist-related protein 1 | chr7 | GO:0007517 | Not Cancer Driver | No | 23 | 0.114 | 132 | 11 | 0.083 | 7 |
UNC45A | UNC45A | Q9H3U1 | Protein unc-45 homolog A | chr15 | GO:0007517 | Not Cancer Driver | No | 78 | 0.083 | 128 | 4 | 0.031 | 0 |
UNC45B | UNC45B | Q8IWX7 | Protein unc-45 homolog B | chr17 | GO:0007517 | Not Cancer Driver | No | 167 | 0.179 | 55 | 6 | 0.109 | 3 |
USP2 | USP2 | O75604 | Ubiquitin carboxyl-terminal hydrolase 2 | chr11 | GO:0007517 | Not Cancer Driver | No | 88 | 0.145 | 213 | 39 | 0.183 | 0 |
UTRN | UTRN | P46939 | Utrophin | chr6 | GO:0007517 | Not Cancer Driver | No | 476 | 0.139 | 1283 | 183 | 0.143 | 0 |
VAMP5 | VAMP5 | O95183 | Vesicle-associated membrane protein 5 | chr2 | GO:0007517 | Not Cancer Driver | No | 17 | 0.147 | 19 | 1 | 0.053 | 0 |
XBP1 | XBP1 | P17861 | X-box-binding protein 1 | chr22 | GO:0007517 | Not Cancer Driver | No | 19 | 0.073 | 169 | 9 | 0.053 | 0 |
ZBTB42 | ZBTB42 | B2RXF5 | Zinc finger and BTB domain-containing protein 42 | chr14 | GO:0007517 | Not Cancer Driver | No | 15 | 0.036 | 174 | 6 | 0.034 | 1 |
ZFHX3_ENST00000268489 | ZFHX3 | Q15911 | Zinc finger homeobox protein 3 | chr16 | GO:0007517 | Census, Compendium | Yes | 501 | 0.135 | 2555 | 337 | 0.132 | 0 |
ZNF609 | ZNF609 | O15014 | Zinc finger protein 609 | chr15 | GO:0007517 | Not Cancer Driver | No | 141 | 0.1 | 1333 | 133 | 0.1 | 0 |