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Total number of protein in "GO:0030278" GO term:  112

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
ACTN3_ENST00000513398 ACTN3 Q08043 Alpha-actinin-3 chr11 GO:0030278 Not Cancer Driver No 123 0.137 135 13 0.096 0
ACVR1_ENST00000434821 ACVR1 Q04771 Activin receptor type-1 chr2 GO:0030278 Census, Compendium Yes 78 0.153 21 8 0.381 8
ACVR2A_ENST00000404590 ACVR2A P27037 Activin receptor type-2A chr2 GO:0030278 Census, Compendium Yes 98 0.191 56 6 0.107 0
ACVR2B ACVR2B Q13705 Activin receptor type-2B chr3 GO:0030278 Not Cancer Driver No 83 0.162 70 14 0.2 2
ADGRV1_ENST00000645211 ADGRV1 Q8WXG9 Adhesion G-protein coupled receptor V1 chr5 GO:0030278 Not Cancer Driver No 1124 0.178 496 77 0.155 2
ADRB2 ADRB2 P07550 Beta-2 adrenergic receptor chr5 GO:0030278 Not Cancer Driver No 52 0.126 35 4 0.114 0
AHSG AHSG P02765 Alpha-2-HS-glycoprotein chr3 GO:0030278 Not Cancer Driver No 74 0.202 131 41 0.313 0
ALOX5 ALOX5 P09917 Polyunsaturated fatty acid 5-lipoxygenase chr10 GO:0030278 Not Cancer Driver No 129 0.191 16 2 0.125 0
ANKH ANKH Q9HCJ1 Progressive ankylosis protein homolog chr5 GO:0030278 Not Cancer Driver No 76 0.154 34 5 0.147 6
ANO6_ENST00000320560 ANO6 Q4KMQ2 Anoctamin-6 chr12 GO:0030278 Not Cancer Driver No 134 0.147 80 11 0.138 0
ATP2B1_ENST00000261173 ATP2B1 P20020 Plasma membrane calcium-transporting ATPase 1 chr12 GO:0030278 Not Cancer Driver No 143 0.117 293 42 0.143 0
ATRAID_ENST00000606999 ATRAID Q6UW56 All-trans retinoic acid-induced differentiation factor chr2 GO:0030278 Not Cancer Driver No 15 0.066 9 2 0.222 0
BCL2_ENST00000333681 BCL2 P10415 Apoptosis regulator Bcl-2 chr18 GO:0030278 Census, Compendium Yes 24 0.1 72 5 0.069 0
BCOR BCOR Q6W2J9 BCL-6 corepressor chrX GO:0030278 Census, Compendium Yes 291 0.166 1285 226 0.176 1
BGLAP BGLAP P02818 Osteocalcin chr1 GO:0030278 Not Cancer Driver No 13 0.13 21 2 0.095 0
BMP2 BMP2 P12643 Bone morphogenetic protein 2 chr20 GO:0030278 Not Cancer Driver No 73 0.184 139 26 0.187 0
BMP2K BMP2K Q9NSY1 BMP-2-inducible protein kinase chr4 GO:0030278 Not Cancer Driver No 124 0.107 827 89 0.108 0
BMP4 BMP4 P12644 Bone morphogenetic protein 4 chr14 GO:0030278 Not Cancer Driver No 86 0.211 142 26 0.183 5
BMP6 BMP6 P22004 Bone morphogenetic protein 6 chr6 GO:0030278 Not Cancer Driver No 95 0.185 226 51 0.226 0
BMP7 BMP7 P18075 Bone morphogenetic protein 7 chr20 GO:0030278 Not Cancer Driver No 91 0.211 69 18 0.261 0
BMPR1A BMPR1A P36894 Bone morphogenetic protein receptor type-1A chr10 GO:0030278 Census, Compendium Yes 66 0.124 21 0 0.0 8
BMPR1B_ENST00000394931 BMPR1B O00238 Bone morphogenetic protein receptor type-1B chr4 GO:0030278 Not Cancer Driver No 84 0.167 64 12 0.188 5
BMPR2 BMPR2 Q13873 Bone morphogenetic protein receptor type-2 chr2 GO:0030278 Compendium Yes 141 0.136 601 70 0.116 19
CCN1 CCN1 O00622 CCN family member 1 chr1 GO:0030278 Not Cancer Driver No 33 0.087 12 0 0.0 0
CCR1 CCR1 P32246 C-C chemokine receptor type 1 chr3 GO:0030278 Not Cancer Driver No 69 0.194 14 5 0.357 0
CHSY1 CHSY1 Q86X52 Chondroitin sulfate synthase 1 chr15 GO:0030278 Not Cancer Driver No 95 0.118 137 10 0.073 1
COMP COMP P49747 Cartilage oligomeric matrix protein chr19 GO:0030278 Not Cancer Driver No 97 0.128 306 52 0.17 61
CSF1_ENST00000369802 CSF1 P09603 Macrophage colony-stimulating factor 1 chr1 GO:0030278 Not Cancer Driver No 69 0.125 339 46 0.136 0
CYP27B1 CYP27B1 O15528 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial chr12 GO:0030278 Not Cancer Driver No 71 0.14 79 13 0.165 18
DDR2 DDR2 Q16832 Discoidin domain-containing receptor 2 chr1 GO:0030278 Census Yes 192 0.225 118 34 0.288 7
DHRS3 DHRS3 O75911 Short-chain dehydrogenase/reductase 3 chr1 GO:0030278 Not Cancer Driver No 33 0.109 0 0 0.0 0
DKK1 DKK1 O94907 Dickkopf-related protein 1 chr10 GO:0030278 Not Cancer Driver No 58 0.218 47 8 0.17 0
ECM1_ENST00000369047 ECM1 Q16610 Extracellular matrix protein 1 chr1 GO:0030278 Not Cancer Driver No 91 0.169 219 28 0.128 1
EGR2 EGR2 P11161 E3 SUMO-protein ligase EGR2 chr10 GO:0030278 Compendium Yes 90 0.189 352 59 0.168 11
ENPP1 ENPP1 P22413 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 chr6 GO:0030278 Not Cancer Driver No 148 0.16 101 5 0.05 33
ESRRA_ENST00000000442 ESRRA P11474 Steroid hormone receptor ERR1 chr11 GO:0030278 Compendium Yes 37 0.087 101 9 0.089 0
FAM20C FAM20C Q8IXL6 Extracellular serine/threonine protein kinase FAM20C chr7 GO:0030278 Not Cancer Driver No 33 0.057 188 3 0.016 9
FBN2_ENST00000262464 FBN2 P35556 Fibrillin-2 chr5 GO:0030278 Compendium Yes 607 0.208 135 24 0.178 30
FGF23 FGF23 Q9GZV9 Fibroblast growth factor 23 chr12 GO:0030278 Not Cancer Driver No 84 0.335 97 51 0.526 7
FZD9 FZD9 O00144 Frizzled-9 chr7 GO:0030278 Not Cancer Driver No 55 0.093 61 0 0.0 0
GATA1 GATA1 P15976 Erythroid transcription factor chrX GO:0030278 Census, Compendium Yes 68 0.165 242 41 0.169 5
GFRA4 GFRA4 Q9GZZ7 GDNF family receptor alpha-4 chr20 GO:0030278 Not Cancer Driver No 13 0.043 85 4 0.047 0
GJA1 GJA1 P17302 Gap junction alpha-1 protein chr6 GO:0030278 Not Cancer Driver No 86 0.225 110 26 0.236 50
GPM6B_ENST00000356942 GPM6B Q13491 Neuronal membrane glycoprotein M6-b chrX GO:0030278 Not Cancer Driver No 39 0.147 14 3 0.214 0
GREM1 GREM1 O60565 Gremlin-1 chr15 GO:0030278 Not Cancer Driver No 25 0.136 77 12 0.156 0
HIF1A_ENST00000337138 HIF1A Q16665 Hypoxia-inducible factor 1-alpha chr14 GO:0030278 Census Yes 118 0.143 435 51 0.117 0
IFITM5 IFITM5 A6NNB3 Interferon-induced transmembrane protein 5 chr11 GO:0030278 Not Cancer Driver No 18 0.136 27 3 0.111 1
INTU INTU Q9ULD6 Protein inturned chr4 GO:0030278 Not Cancer Driver No 146 0.155 282 52 0.184 0
ISG15 ISG15 P05161 Ubiquitin-like protein ISG15 chr1 GO:0030278 Not Cancer Driver No 12 0.073 24 2 0.083 0
KL KL Q9UEF7 Klotho chr13 GO:0030278 Not Cancer Driver No 175 0.173 104 5 0.048 1
KREMEN1_ENST00000407188 KREMEN1 Q96MU8 Kremen protein 1 chr22 GO:0030278 Not Cancer Driver No 68 0.144 73 7 0.096 1
KREMEN2 KREMEN2 Q8NCW0 Kremen protein 2 chr16 GO:0030278 Not Cancer Driver No 24 0.052 138 4 0.029 0
LRP4 LRP4 O75096 Low-density lipoprotein receptor-related protein 4 chr11 GO:0030278 Not Cancer Driver No 233 0.122 265 28 0.106 11
LTBP3 LTBP3 Q9NS15 Latent-transforming growth factor beta-binding protein 3 chr11 GO:0030278 Not Cancer Driver No 108 0.083 356 22 0.062 0
LTF LTF P02788 Lactotransferrin chr3 GO:0030278 Not Cancer Driver No 131 0.185 21 4 0.19 0
MAPK14_ENST00000229794 MAPK14 Q16539 Mitogen-activated protein kinase 14 chr6 GO:0030278 Not Cancer Driver No 39 0.108 25 1 0.04 0
MAPK1_ENST00000398822 MAPK1 P28482 Mitogen-activated protein kinase 1 chr22 GO:0030278 Census, Compendium Yes 62 0.172 2 0 0.0 7
MAPK3 MAPK3 P27361 Mitogen-activated protein kinase 3 chr16 GO:0030278 Not Cancer Driver No 38 0.1 49 5 0.102 0
MATN1 MATN1 P21941 Cartilage matrix protein chr1 GO:0030278 Not Cancer Driver No 49 0.099 18 2 0.111 0
MDK_ENST00000407067 MDK P21741 Midkine chr11 GO:0030278 Not Cancer Driver No 15 0.105 20 2 0.1 0
MEF2C_ENST00000504921 MEF2C Q06413 Myocyte-specific enhancer factor 2C chr5 GO:0030278 Not Cancer Driver No 92 0.195 408 81 0.199 0
MGP_ENST00000539261 MGP P08493 Matrix Gla protein chr12 GO:0030278 Not Cancer Driver No 19 0.184 11 1 0.091 0
NBR1 NBR1 Q14596 Next to BRCA1 gene 1 protein chr17 GO:0030278 Not Cancer Driver No 101 0.105 560 51 0.091 0
NELL1_ENST00000357134 NELL1 Q92832 Protein kinase C-binding protein NELL1 chr11 GO:0030278 Not Cancer Driver No 238 0.294 7 3 0.429 0
NIPBL NIPBL Q6KC79 Nipped-B-like protein chr5 GO:0030278 Compendium Yes 353 0.126 1528 184 0.12 37
NOTCH1 NOTCH1 P46531 Neurogenic locus notch homolog protein 1 chr9 GO:0030278 Census, Compendium Yes 363 0.142 686 87 0.127 3
NOTUM NOTUM Q6P988 Palmitoleoyl-protein carboxylesterase NOTUM chr17 GO:0030278 Not Cancer Driver No 50 0.101 73 6 0.082 0
OMD OMD Q99983 Osteomodulin chr9 GO:0030278 Census Yes 51 0.121 59 12 0.203 0
OSR1 OSR1 Q8TAX0 Protein odd-skipped-related 1 chr2 GO:0030278 Not Cancer Driver No 57 0.214 67 17 0.254 0
OSR2_ENST00000522510 OSR2 Q8N2R0 Protein odd-skipped-related 2 chr8 GO:0030278 Not Cancer Driver No 59 0.189 66 13 0.197 0
OXT OXT P01178 Oxytocin-neurophysin 1 chr20 GO:0030278 Not Cancer Driver No 10 0.08 0 0 0.0 0
P2RX7 P2RX7 Q99572 P2X purinoceptor 7 chr12 GO:0030278 Not Cancer Driver No 51 0.086 14 2 0.143 0
PBX1 PBX1 P40424 Pre-B-cell leukemia transcription factor 1 chr1 GO:0030278 Census Yes 82 0.191 290 57 0.197 0
PHOSPHO1_ENST00000310544 PHOSPHO1 Q8TCT1 Phosphoethanolamine/phosphocholine phosphatase chr17 GO:0030278 Not Cancer Driver No 14 0.052 18 0 0.0 0
PKDCC PKDCC Q504Y2 Extracellular tyrosine-protein kinase PKDCC chr2 GO:0030278 Not Cancer Driver No 36 0.073 124 0 0.0 0
PTGER4 PTGER4 P35408 Prostaglandin E2 receptor EP4 subtype chr5 GO:0030278 Not Cancer Driver No 81 0.166 118 17 0.144 0
PTH PTH P01270 Parathyroid hormone chr11 GO:0030278 Not Cancer Driver No 19 0.165 60 10 0.167 2
PTK2B_ENST00000346049 PTK2B Q14289 Protein-tyrosine kinase 2-beta chr8 GO:0030278 Not Cancer Driver No 161 0.16 261 37 0.142 0
PTN PTN P21246 Pleiotrophin chr7 GO:0030278 Not Cancer Driver No 43 0.256 51 11 0.216 0
PTPN11_ENST00000351677 PTPN11 Q06124 Tyrosine-protein phosphatase non-receptor type 11 chr12 GO:0030278 Census, Compendium Yes 129 0.218 260 38 0.146 60
RBPJ_ENST00000361572 RBPJ Q06330 Recombining binding protein suppressor of hairless chr4 GO:0030278 Not Cancer Driver No 49 0.098 151 19 0.126 2
RFLNA_ENST00000546355 RFLNA Q6ZTI6 Refilin-A chr12 GO:0030278 Not Cancer Driver No 23 0.106 122 8 0.066 0
RUNX2_ENST00000647337 RUNX2 Q13950 Runt-related transcription factor 2 chr6 GO:0030278 Not Cancer Driver No 83 0.159 447 73 0.163 47
S1PR1 S1PR1 P21453 Sphingosine 1-phosphate receptor 1 chr1 GO:0030278 Not Cancer Driver No 86 0.225 29 6 0.207 0
SFRP1 SFRP1 Q8N474 Secreted frizzled-related protein 1 chr8 GO:0030278 Not Cancer Driver No 40 0.127 39 7 0.179 0
SGMS2 SGMS2 Q8NHU3 Phosphatidylcholine:ceramide cholinephosphotransferase 2 chr4 GO:0030278 Not Cancer Driver No 37 0.101 49 7 0.143 0
SIX2 SIX2 Q9NPC8 Homeobox protein SIX2 chr2 GO:0030278 Census Yes 53 0.182 151 21 0.139 0
SLC8A1_ENST00000332839 SLC8A1 P32418 Sodium/calcium exchanger 1 chr2 GO:0030278 Not Cancer Driver No 305 0.313 158 48 0.304 0
SMAD3 SMAD3 P84022 Mothers against decapentaplegic homolog 3 chr15 GO:0030278 Census, Compendium Yes 97 0.228 111 19 0.171 5
SMAD6 SMAD6 O43541 Mothers against decapentaplegic homolog 6 chr15 GO:0030278 Not Cancer Driver No 38 0.077 248 7 0.028 7
SMAD7 SMAD7 O15105 Mothers against decapentaplegic homolog 7 chr18 GO:0030278 Not Cancer Driver No 40 0.094 139 0 0.0 0
SOST SOST Q9BQB4 Sclerostin chr17 GO:0030278 Not Cancer Driver No 30 0.141 90 12 0.133 3
SOX11 SOX11 P35716 Transcription factor SOX-11 chr2 GO:0030278 Not Cancer Driver No 61 0.138 368 53 0.144 2
SOX9 SOX9 P48436 Transcription factor SOX-9 chr17 GO:0030278 Compendium Yes 86 0.169 495 82 0.166 18
SRGN SRGN P10124 Serglycin chr10 GO:0030278 Not Cancer Driver No 25 0.158 87 13 0.149 0
STATH STATH P02808 Statherin chr4 GO:0030278 Not Cancer Driver No 11 0.177 0 0 0.0 0
TACR1 TACR1 P25103 Substance-P receptor chr2 GO:0030278 Not Cancer Driver No 69 0.17 28 2 0.071 0
TENT5A TENT5A Q96IP4 Terminal nucleotidyltransferase 5A chr6 GO:0030278 Not Cancer Driver No 43 0.097 0 0 0.0 0
TFAP2A TFAP2A P05549 Transcription factor AP-2-alpha chr6 GO:0030278 Not Cancer Driver No 77 0.176 275 44 0.16 4
TGFB1 TGFB1 P01137 Transforming growth factor beta-1 proprotein chr19 GO:0030278 Not Cancer Driver No 41 0.105 41 4 0.098 10
TGFB2_ENST00000366930 TGFB2 P61812 Transforming growth factor beta-2 proprotein chr1 GO:0030278 Not Cancer Driver No 63 0.152 47 8 0.17 3
TGFB3 TGFB3 P10600 Transforming growth factor beta-3 proprotein chr14 GO:0030278 Not Cancer Driver No 45 0.109 96 14 0.146 1
TMEM119 TMEM119 Q4V9L6 Transmembrane protein 119 chr12 GO:0030278 Not Cancer Driver No 59 0.208 195 47 0.241 0
TOB2 TOB2 Q14106 Protein Tob2 chr22 GO:0030278 Not Cancer Driver No 36 0.105 147 16 0.109 0
TRPM4 TRPM4 Q8TD43 Transient receptor potential cation channel subfamily M member 4 chr19 GO:0030278 Not Cancer Driver No 152 0.125 149 18 0.121 12
TWIST1 TWIST1 Q15672 Twist-related protein 1 chr7 GO:0030278 Not Cancer Driver No 23 0.114 132 11 0.083 7
TXLNG TXLNG Q9NUQ3 Gamma-taxilin chrX GO:0030278 Not Cancer Driver No 50 0.095 374 35 0.094 0
WNT10B WNT10B O00744 Protein Wnt-10b chr12 GO:0030278 Not Cancer Driver No 56 0.144 84 16 0.19 2
WNT4 WNT4 P56705 Protein Wnt-4 chr1 GO:0030278 Not Cancer Driver No 30 0.085 39 4 0.103 4
WNT5A_ENST00000474267 WNT5A P41221 Protein Wnt-5a chr3 GO:0030278 Not Cancer Driver No 66 0.174 0 0 0.0 2
ZBTB16_ENST00000392996 ZBTB16 Q05516 Zinc finger and BTB domain-containing protein 16 chr11 GO:0030278 Census, Compendium Yes 131 0.195 268 50 0.187 1
ZMPSTE24 ZMPSTE24 O75844 CAAX prenyl protease 1 homolog chr1 GO:0030278 Not Cancer Driver No 67 0.141 23 0 0.0 3