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Total number of protein in "GO:0030018" GO term:  122

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
ACTN1_ENST00000193403 ACTN1 P12814 Alpha-actinin-1 chr14 GO:0030018 Not Cancer Driver No 108 0.121 195 30 0.154 6
ACTN2_ENST00000366578 ACTN2 P35609 Alpha-actinin-2 chr1 GO:0030018 Not Cancer Driver No 227 0.254 131 29 0.221 9
ACTN3_ENST00000513398 ACTN3 Q08043 Alpha-actinin-3 chr11 GO:0030018 Not Cancer Driver No 123 0.137 135 13 0.096 0
ACTN4 ACTN4 O43707 Alpha-actinin-4 chr19 GO:0030018 Not Cancer Driver No 131 0.144 244 42 0.172 8
ADRA1A_ENST00000380573 ADRA1A P35348 Alpha-1A adrenergic receptor chr8 GO:0030018 Not Cancer Driver No 130 0.279 40 8 0.2 0
AKAP4 AKAP4 Q5JQC9 A-kinase anchor protein 4 chrX GO:0030018 Not Cancer Driver No 172 0.201 413 85 0.206 0
ANK2 ANK2 Q01484 Ankyrin-2 chr4 GO:0030018 Not Cancer Driver No 770 0.195 2844 566 0.199 4
ANK3 ANK3 Q12955 Ankyrin-3 chr10 GO:0030018 Not Cancer Driver No 860 0.196 3054 579 0.19 0
ASB2 ASB2 Q96Q27 Ankyrin repeat and SOCS box protein 2 chr14 GO:0030018 Not Cancer Driver No 90 0.142 167 19 0.114 0
BAG3 BAG3 O95817 BAG family molecular chaperone regulator 3 chr10 GO:0030018 Not Cancer Driver No 57 0.099 571 57 0.1 7
BIN1 BIN1 O00499 Myc box-dependent-interacting protein 1 chr2 GO:0030018 Not Cancer Driver No 65 0.11 456 42 0.092 5
BMP10 BMP10 O95393 Bone morphogenetic protein 10 chr2 GO:0030018 Not Cancer Driver No 88 0.208 87 13 0.149 0
C10orf71 CEFIP Q711Q0 Cardiac-enriched FHL2-interacting protein chr10 GO:0030018 Not Cancer Driver No 229 0.16 1356 218 0.161 0
CAB39 CAB39 Q9Y376 Calcium-binding protein 39 chr2 GO:0030018 Not Cancer Driver No 31 0.091 43 5 0.116 0
CACNA1C CACNA1C Q13936 Voltage-dependent L-type calcium channel subunit alpha-1C chr12 GO:0030018 Not Cancer Driver No 455 0.205 744 146 0.196 14
CACNA1D_ENST00000350061 CACNA1D Q01668 Voltage-dependent L-type calcium channel subunit alpha-1D chr3 GO:0030018 Census, Compendium Yes 342 0.158 736 126 0.171 2
CAPN3 CAPN3 P20807 Calpain-3 chr15 GO:0030018 Not Cancer Driver No 111 0.135 168 11 0.065 52
CASQ1 CASQ1 P31415 Calsequestrin-1 chr1 GO:0030018 Not Cancer Driver No 77 0.194 110 18 0.164 4
CASQ2 CASQ2 O14958 Calsequestrin-2 chr1 GO:0030018 Not Cancer Driver No 74 0.185 75 16 0.213 4
CAV3 CAV3 P56539 Caveolin-3 chr3 GO:0030018 Not Cancer Driver No 27 0.179 0 0 0.0 25
CAVIN4 CAVIN4 Q5BKX8 Caveolae-associated protein 4 chr9 GO:0030018 Not Cancer Driver No 59 0.162 286 45 0.157 0
CFL2_ENST00000341223 CFL2 Q9Y281 Cofilin-2 chr14 GO:0030018 Not Cancer Driver No 25 0.151 0 0 0.0 1
CRYAB_ENST00000616970 CRYAB P02511 Alpha-crystallin B chain chr11 GO:0030018 Not Cancer Driver No 22 0.126 59 11 0.186 4
CSRP1_ENST00000340006 CSRP1 P21291 Cysteine and glycine-rich protein 1 chr1 GO:0030018 Not Cancer Driver No 18 0.093 28 4 0.143 0
CSRP2 CSRP2 Q16527 Cysteine and glycine-rich protein 2 chr12 GO:0030018 Not Cancer Driver No 24 0.124 29 2 0.069 0
CSRP3 CSRP3 P50461 Cysteine and glycine-rich protein 3 chr11 GO:0030018 Not Cancer Driver No 25 0.129 31 1 0.032 2
CTNNB1_ENST00000643977 CTNNB1 P35222 Catenin beta-1 chr3 GO:0030018 Census, Compendium Yes 415 0.531 288 301 1.045 14
DES DES P17661 Desmin chr2 GO:0030018 Not Cancer Driver No 71 0.151 264 41 0.155 35
DMD DMD P11532 Dystrophin chrX GO:0030018 Not Cancer Driver No 895 0.243 1399 329 0.235 14
DNAJB6 DNAJB6 O75190 DnaJ homolog subfamily B member 6 chr7 GO:0030018 Not Cancer Driver No 33 0.101 198 17 0.086 3
FBP2 FBP2 O00757 Fructose-1,6-bisphosphatase isozyme 2 chr9 GO:0030018 Not Cancer Driver No 54 0.159 15 3 0.2 0
FBXL22 FBXL22 Q6P050 F-box and leucine-rich protein 22 chr15 GO:0030018 Not Cancer Driver No 15 0.061 125 3 0.024 0
FBXO22 FBXO22 Q8NEZ5 F-box only protein 22 chr15 GO:0030018 Not Cancer Driver No 65 0.161 15 3 0.2 0
FBXO32 FBXO32 Q969P5 F-box only protein 32 chr8 GO:0030018 Not Cancer Driver No 54 0.152 0 0 0.0 0
FHL2_ENST00000408995 FHL2 Q14192 Four and a half LIM domains protein 2 chr2 GO:0030018 Not Cancer Driver No 30 0.108 0 0 0.0 0
FHL3 FHL3 Q13643 Four and a half LIM domains protein 3 chr1 GO:0030018 Not Cancer Driver No 33 0.118 0 0 0.0 0
FHL5 FHL5 Q5TD97 Four and a half LIM domains protein 5 chr6 GO:0030018 Not Cancer Driver No 106 0.373 0 0 0.0 0
FHOD3_ENST00000359247 FHOD3 Q2V2M9 FH1/FH2 domain-containing protein 3 chr18 GO:0030018 Not Cancer Driver No 217 0.153 794 122 0.154 0
FKBP1A FKBP1A P62942 Peptidyl-prolyl cis-trans isomerase FKBP1A chr20 GO:0030018 Not Cancer Driver No 15 0.139 39 7 0.179 0
FKBP1B FKBP1B P68106 Peptidyl-prolyl cis-trans isomerase FKBP1B chr2 GO:0030018 Not Cancer Driver No 10 0.093 58 4 0.069 0
FLNA FLNA P21333 Filamin-A chrX GO:0030018 Census Yes 416 0.157 1456 214 0.147 28
FLNB_ENST00000295956 FLNB O75369 Filamin-B chr3 GO:0030018 Not Cancer Driver No 362 0.139 1183 170 0.144 19
FLNC FLNC Q14315 Filamin-C chr7 GO:0030018 Not Cancer Driver No 546 0.2 1442 288 0.2 7
FRG1 FRG1 Q14331 Protein FRG1 chr4 GO:0030018 Not Cancer Driver No 75 0.291 95 39 0.411 0
GLRX3 GLRX3 O76003 Glutaredoxin-3 chr10 GO:0030018 Not Cancer Driver No 52 0.155 24 4 0.167 0
HOMER1 HOMER1 Q86YM7 Homer protein homolog 1 chr5 GO:0030018 Not Cancer Driver No 46 0.13 243 32 0.132 0
HRC HRC P23327 Sarcoplasmic reticulum histidine-rich calcium-binding protein chr19 GO:0030018 Not Cancer Driver No 110 0.157 612 98 0.16 0
HSPB1 HSPB1 P04792 Heat shock protein beta-1 chr7 GO:0030018 Not Cancer Driver No 10 0.049 118 8 0.068 20
IGFN1_ENST00000295591 IGFN1 Q86VF2 Immunoglobulin-like and fibronectin type III domain-containing protein 1 chr1 GO:0030018 Not Cancer Driver No 194 0.155 565 97 0.172 0
ITGB1BP2 ITGB1BP2 Q9UKP3 Integrin beta-1-binding protein 2 chrX GO:0030018 Not Cancer Driver No 51 0.147 137 22 0.161 0
JPH1 JPH1 Q9HDC5 Junctophilin-1 chr8 GO:0030018 Not Cancer Driver No 131 0.198 421 89 0.211 0
JPH2 JPH2 Q9BR39 Junctophilin-2 chr20 GO:0030018 Not Cancer Driver No 137 0.197 542 97 0.179 4
JUP JUP P14923 Junction plakoglobin chr17 GO:0030018 Not Cancer Driver No 112 0.15 241 37 0.154 0
KCNA5 KCNA5 P22460 Potassium voltage-gated channel subfamily A member 5 chr12 GO:0030018 Not Cancer Driver No 213 0.347 218 53 0.243 0
KCNE1_ENST00000399284 KCNE1 P15382 Potassium voltage-gated channel subfamily E member 1 chr21 GO:0030018 Not Cancer Driver No 35 0.271 24 10 0.417 9
KCNN2 KCNN2 Q9H2S1 Small conductance calcium-activated potassium channel protein 2 chr5 GO:0030018 Not Cancer Driver No 112 0.193 175 33 0.189 0
KRT19 KRT19 P08727 Keratin, type I cytoskeletal 19 chr17 GO:0030018 Not Cancer Driver No 57 0.142 165 19 0.115 0
KY KY Q8NBH2 Kyphoscoliosis peptidase chr3 GO:0030018 Not Cancer Driver No 98 0.148 139 29 0.209 0
LDB3_ENST00000361373 LDB3 O75112 LIM domain-binding protein 3 chr10 GO:0030018 Not Cancer Driver No 107 0.147 529 71 0.134 4
MYH6 MYH6 P13533 Myosin-6 chr14 GO:0030018 Not Cancer Driver No 392 0.202 1112 238 0.214 7
MYH7 MYH7 P12883 Myosin-7 chr14 GO:0030018 Not Cancer Driver No 464 0.24 1107 276 0.249 200
MYL12B_ENST00000237500 MYL12B O14950 Myosin regulatory light chain 12B chr18 GO:0030018 Not Cancer Driver No 23 0.134 61 13 0.213 0
MYL9 MYL9 P24844 Myosin regulatory light polypeptide 9 chr20 GO:0030018 Not Cancer Driver No 34 0.198 82 19 0.232 0
MYO18B_ENST00000335473 MYO18B Q8IUG5 Unconventional myosin-XVIIIb chr22 GO:0030018 Not Cancer Driver No 541 0.211 1541 355 0.23 0
MYOT MYOT Q9UBF9 Myotilin chr5 GO:0030018 Not Cancer Driver No 78 0.157 280 39 0.139 6
MYOZ1 MYOZ1 Q9NP98 Myozenin-1 chr10 GO:0030018 Not Cancer Driver No 49 0.164 223 39 0.175 0
MYOZ2 MYOZ2 Q9NPC6 Myozenin-2 chr4 GO:0030018 Not Cancer Driver No 50 0.189 197 38 0.193 2
MYOZ3_ENST00000517768 MYOZ3 Q8TDC0 Myozenin-3 chr5 GO:0030018 Not Cancer Driver No 40 0.159 211 27 0.128 0
MYPN_ENST00000540630 MYPN Q86TC9 Myopalladin chr10 GO:0030018 Not Cancer Driver No 262 0.198 925 182 0.197 17
MYZAP MYZAP P0CAP1 Myocardial zonula adherens protein chr15 GO:0030018 Not Cancer Driver No 92 0.197 358 76 0.212 0
NEBL NEBL O76041 Nebulette chr10 GO:0030018 Not Cancer Driver No 239 0.236 773 183 0.237 0
NEB_ENST00000172853 NEB P20929 Nebulin chr2 GO:0030018 Not Cancer Driver No 1188 0.178 1984 355 0.179 0
NEXN NEXN Q0ZGT2 Nexilin chr1 GO:0030018 Not Cancer Driver No 111 0.164 614 102 0.166 4
NOS1AP NOS1AP O75052 Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein chr1 GO:0030018 Not Cancer Driver No 94 0.186 255 53 0.208 1
NRAP_ENST00000359988 NRAP Q86VF7 Nebulin-related-anchoring protein chr10 GO:0030018 Not Cancer Driver No 302 0.175 706 139 0.197 0
OBSCN_ENST00000422127 OBSCN Q5VST9 Obscurin chr1 GO:0030018 Not Cancer Driver No 1208 0.152 2623 368 0.14 0
OBSL1 OBSL1 O75147 Obscurin-like protein 1 chr2 GO:0030018 Not Cancer Driver No 233 0.123 553 60 0.108 0
PAK1_ENST00000356341 PAK1 Q13153 Serine/threonine-protein kinase PAK 1 chr11 GO:0030018 Not Cancer Driver No 57 0.105 299 30 0.1 2
PARVB_ENST00000338758 PARVB Q9HBI1 Beta-parvin chr22 GO:0030018 Not Cancer Driver No 45 0.124 83 9 0.108 0
PDE4B PDE4B Q07343 cAMP-specific 3',5'-cyclic phosphodiesterase 4B chr1 GO:0030018 Not Cancer Driver No 119 0.162 363 42 0.116 0
PDLIM1 PDLIM1 O00151 PDZ and LIM domain protein 1 chr10 GO:0030018 Not Cancer Driver No 62 0.188 219 39 0.178 0
PDLIM2_ENST00000409417 PDLIM2 Q96JY6 PDZ and LIM domain protein 2 chr8 GO:0030018 Not Cancer Driver No 52 0.148 288 44 0.153 0
PDLIM3 PDLIM3 Q53GG5 PDZ and LIM domain protein 3 chr4 GO:0030018 Not Cancer Driver No 44 0.121 235 35 0.149 0
PDLIM4 PDLIM4 P50479 PDZ and LIM domain protein 4 chr5 GO:0030018 Not Cancer Driver No 42 0.127 238 28 0.118 0
PDLIM5_ENST00000317968 PDLIM5 Q96HC4 PDZ and LIM domain protein 5 chr4 GO:0030018 Not Cancer Driver No 89 0.149 372 57 0.153 0
PDLIM7 PDLIM7 Q9NR12 PDZ and LIM domain protein 7 chr5 GO:0030018 Not Cancer Driver No 48 0.105 244 20 0.082 0
PGM5 PGM5 Q15124 Phosphoglucomutase-like protein 5 chr9 GO:0030018 Not Cancer Driver No 165 0.291 54 4 0.074 0
PLEC PLEC Q15149 Plectin chr8 GO:0030018 Not Cancer Driver No 677 0.145 2130 272 0.128 2
PPP1R12A_ENST00000261207 PPP1R12A O14974 Protein phosphatase 1 regulatory subunit 12A chr12 GO:0030018 Not Cancer Driver No 107 0.104 821 89 0.108 0
PPP1R12B_ENST00000608999 PPP1R12B O60237 Protein phosphatase 1 regulatory subunit 12B chr1 GO:0030018 Not Cancer Driver No 143 0.146 801 119 0.149 0
PPP2R5A PPP2R5A Q15172 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform chr1 GO:0030018 Not Cancer Driver No 55 0.113 93 5 0.054 0
PPP3CA PPP3CA Q08209 Protein phosphatase 3 catalytic subunit alpha chr4 GO:0030018 Compendium Yes 85 0.163 140 27 0.193 7
PPP3CB_ENST00000360663 PPP3CB P16298 Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform chr10 GO:0030018 Not Cancer Driver No 67 0.128 139 18 0.129 0
PRICKLE4_ENST00000394260 PRICKLE4 Q2TBC4 Prickle-like protein 4 chr6 GO:0030018 Not Cancer Driver No 44 0.128 130 15 0.115 0
PSEN1 PSEN1 P49768 Presenilin-1 chr14 GO:0030018 Not Cancer Driver No 61 0.131 134 21 0.157 96
PSEN2 PSEN2 P49810 Presenilin-2 chr1 GO:0030018 Not Cancer Driver No 68 0.152 89 16 0.18 7
RTN2 RTN2 O75298 Reticulon-2 chr19 GO:0030018 Not Cancer Driver No 85 0.156 270 55 0.204 1
RYR1 RYR1 P21817 Ryanodine receptor 1 chr19 GO:0030018 Not Cancer Driver No 1003 0.199 1186 233 0.196 154
RYR2 RYR2 Q92736 Ryanodine receptor 2 chr1 GO:0030018 Not Cancer Driver No 1703 0.343 782 281 0.359 51
RYR3 RYR3 Q15413 Ryanodine receptor 3 chr15 GO:0030018 Not Cancer Driver No 1079 0.222 649 162 0.25 0
SCN1A_ENST00000423058 SCN1A P35498 Sodium channel protein type 1 subunit alpha chr2 GO:0030018 Not Cancer Driver No 497 0.247 455 121 0.266 396
SCN3B_ENST00000299333 SCN3B Q9NY72 Sodium channel subunit beta-3 chr11 GO:0030018 Not Cancer Driver No 63 0.293 16 5 0.312 3
SCN5A_ENST00000333535 SCN5A Q14524 Sodium channel protein type 5 subunit alpha chr3 GO:0030018 Not Cancer Driver No 491 0.244 550 144 0.262 190
SCN8A SCN8A Q9UQD0 Sodium channel protein type 8 subunit alpha chr12 GO:0030018 Not Cancer Driver No 290 0.146 460 75 0.163 28
SLC2A1 SLC2A1 P11166 Solute carrier family 2, facilitated glucose transporter member 1 chr1 GO:0030018 Not Cancer Driver No 51 0.104 13 2 0.154 48
SLC4A1 SLC4A1 P02730 Band 3 anion transport protein chr17 GO:0030018 Not Cancer Driver No 153 0.168 130 23 0.177 39
SLC8A1_ENST00000332839 SLC8A1 P32418 Sodium/calcium exchanger 1 chr2 GO:0030018 Not Cancer Driver No 305 0.313 158 48 0.304 0
SMN2_ENST00000380741 SMN2 Q16637 Survival motor neuron protein chr5 GO:0030018 Not Cancer Driver No 1 0.003 220 1 0.005 18
SORBS2_ENST00000284776 SORBS2 O94875 Sorbin and SH3 domain-containing protein 2 chr4 GO:0030018 Not Cancer Driver No 172 0.156 854 137 0.16 0
SRI SRI P30626 Sorcin chr7 GO:0030018 Not Cancer Driver No 15 0.076 32 2 0.062 0
STK11 STK11 Q15831 Serine/threonine-protein kinase STK11 chr19 GO:0030018 Census, Compendium Yes 75 0.173 135 14 0.104 9
STUB1 STUB1 Q9UNE7 E3 ubiquitin-protein ligase CHIP chr16 GO:0030018 Not Cancer Driver No 35 0.116 112 14 0.125 12
SYNC SYNC Q9H7C4 Syncoilin chr1 GO:0030018 Not Cancer Driver No 30 0.062 358 22 0.061 0
SYNE2_ENST00000344113 SYNE2 Q8WXH0 Nesprin-2 chr14 GO:0030018 Not Cancer Driver No 779 0.113 1888 220 0.117 1
SYNPO SYNPO Q8N3V7 Synaptopodin chr5 GO:0030018 Not Cancer Driver No 103 0.111 918 102 0.111 0
SYNPO2L SYNPO2L Q9H987 Synaptopodin 2-like protein chr10 GO:0030018 Not Cancer Driver No 103 0.105 950 99 0.104 0
SYNPO2_ENST00000429713 SYNPO2 Q9UMS6 Synaptopodin-2 chr4 GO:0030018 Not Cancer Driver No 240 0.22 978 219 0.224 0
TCAP TCAP O15273 Telethonin chr17 GO:0030018 Not Cancer Driver No 16 0.096 94 10 0.106 3
TRIM54_ENST00000380075 TRIM54 Q9BYV2 Tripartite motif-containing protein 54 chr2 GO:0030018 Not Cancer Driver No 63 0.176 98 17 0.173 0
TRIM63 TRIM63 Q969Q1 E3 ubiquitin-protein ligase TRIM63 chr1 GO:0030018 Not Cancer Driver No 47 0.133 71 13 0.183 0
TTN_ENST00000615779 TTN Q8WZ42 Titin chr2 GO:0030018 Not Cancer Driver No 7917 0.23 12926 2861 0.221 10
XIRP2_ENST00000628543 XIRP2 A4UGR9 Xin actin-binding repeat-containing protein 2 chr2 GO:0030018 Not Cancer Driver No 1094 0.324 2456 784 0.319 0