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Total number of protein in "GO:0060348" GO term:  51

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
AKAP13_ENST00000394518 AKAP13 Q12802 A-kinase anchor protein 13 chr15 GO:0060348 Not Cancer Driver No 359 0.128 2091 258 0.123 0
AMER1 AMER1 Q5JTC6 APC membrane recruitment protein 1 chrX GO:0060348 Census, Compendium Yes 234 0.206 1039 219 0.211 0
BBX BBX Q8WY36 HMG box transcription factor BBX chr3 GO:0060348 Not Cancer Driver No 147 0.156 842 125 0.148 0
BGLAP BGLAP P02818 Osteocalcin chr1 GO:0060348 Not Cancer Driver No 13 0.13 21 2 0.095 0
BGN BGN P21810 Biglycan chrX GO:0060348 Not Cancer Driver No 63 0.171 26 3 0.115 2
CCN4 CCN4 O95388 CCN family member 4 chr8 GO:0060348 Not Cancer Driver No 93 0.253 20 8 0.4 0
CHAD_ENST00000258969 CHAD O15335 Chondroadherin chr17 GO:0060348 Not Cancer Driver No 51 0.142 22 3 0.136 0
DYM DYM Q7RTS9 Dymeclin chr18 GO:0060348 Not Cancer Driver No 78 0.117 21 0 0.0 3
ENG ENG P17813 Endoglin chr9 GO:0060348 Not Cancer Driver No 60 0.091 114 15 0.132 32
EPYC EPYC Q99645 Epiphycan chr12 GO:0060348 Not Cancer Driver No 61 0.189 80 20 0.25 0
FGF8_ENST00000344255 FGF8 P55075 Fibroblast growth factor 8 chr10 GO:0060348 Not Cancer Driver No 30 0.129 79 9 0.114 6
FGFR2_ENST00000358487 FGFR2 P21802 Fibroblast growth factor receptor 2 chr10 GO:0060348 Census, Compendium Yes 238 0.29 228 44 0.193 72
GJA1 GJA1 P17302 Gap junction alpha-1 protein chr6 GO:0060348 Not Cancer Driver No 86 0.225 110 26 0.236 50
HSD17B1_ENST00000585807 HSD17B1 P14061 17-beta-hydroxysteroid dehydrogenase type 1 chr17 GO:0060348 Not Cancer Driver No 48 0.146 59 28 0.475 0
IFT172 IFT172 Q9UG01 Intraflagellar transport protein 172 homolog chr2 GO:0060348 Not Cancer Driver No 219 0.125 96 10 0.104 8
ITGB6_ENST00000409872 ITGB6 P18564 Integrin beta-6 chr2 GO:0060348 Not Cancer Driver No 120 0.152 26 4 0.154 3
MAP2K6 MAP2K6 P52564 Dual specificity mitogen-activated protein kinase kinase 6 chr17 GO:0060348 Not Cancer Driver No 48 0.144 55 11 0.2 0
MAPK11 MAPK11 Q15759 Mitogen-activated protein kinase 11 chr22 GO:0060348 Not Cancer Driver No 23 0.063 64 2 0.031 0
MAPK14_ENST00000229794 MAPK14 Q16539 Mitogen-activated protein kinase 14 chr6 GO:0060348 Not Cancer Driver No 39 0.108 25 1 0.04 0
MCPH1 MCPH1 Q8NEM0 Microcephalin chr8 GO:0060348 Not Cancer Driver No 110 0.132 446 62 0.139 1
MYOC MYOC Q99972 Myocilin chr1 GO:0060348 Not Cancer Driver No 92 0.183 196 43 0.219 58
NOTUM NOTUM Q6P988 Palmitoleoyl-protein carboxylesterase NOTUM chr17 GO:0060348 Not Cancer Driver No 50 0.101 73 6 0.082 0
NPR2 NPR2 P20594 Atrial natriuretic peptide receptor 2 chr9 GO:0060348 Not Cancer Driver No 144 0.138 89 18 0.202 20
NSD2_ENST00000382892 NSD2 O96028 Histone-lysine N-methyltransferase NSD2 chr4 GO:0060348 Census, Compendium Yes 191 0.14 552 76 0.138 0
P3H1_ENST00000296388 P3H1 Q32P28 Prolyl 3-hydroxylase 1 chr1 GO:0060348 Not Cancer Driver No 91 0.124 177 18 0.102 0
PAPSS2_ENST00000361175 PAPSS2 O95340 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 chr10 GO:0060348 Not Cancer Driver No 81 0.132 100 7 0.07 4
PDGFC PDGFC Q9NRA1 Platelet-derived growth factor C chr4 GO:0060348 Not Cancer Driver No 86 0.249 53 12 0.226 0
PHEX PHEX P78562 Phosphate-regulating neutral endopeptidase PHEX chrX GO:0060348 Not Cancer Driver No 144 0.192 56 7 0.125 30
PLS3_ENST00000539310 PLS3 P13797 Plastin-3 chrX GO:0060348 Not Cancer Driver No 75 0.119 75 5 0.067 0
PPIB PPIB P23284 Peptidyl-prolyl cis-trans isomerase B chr15 GO:0060348 Not Cancer Driver No 28 0.13 16 1 0.062 1
PRPSAP2 PRPSAP2 O60256 Phosphoribosyl pyrophosphate synthase-associated protein 2 chr17 GO:0060348 Not Cancer Driver No 54 0.146 19 3 0.158 0
PTGER4 PTGER4 P35408 Prostaglandin E2 receptor EP4 subtype chr5 GO:0060348 Not Cancer Driver No 81 0.166 118 17 0.144 0
RPL13_ENST00000393099 RPL13 P26373 60S ribosomal protein L13 chr16 GO:0060348 Not Cancer Driver No 14 0.066 160 11 0.069 1
SH3PXD2B SH3PXD2B A1X283 SH3 and PX domain-containing protein 2B chr5 GO:0060348 Not Cancer Driver No 122 0.134 660 101 0.153 1
SLC10A7_ENST00000335472 SLC10A7 Q0GE19 Sodium/bile acid cotransporter 7 chr4 GO:0060348 Not Cancer Driver No 48 0.141 0 0 0.0 3
SLC38A10 SLC38A10 Q9HBR0 Putative sodium-coupled neutral amino acid transporter 10 chr17 GO:0060348 Not Cancer Driver No 128 0.114 719 82 0.114 0
SMAD1 SMAD1 Q15797 Mothers against decapentaplegic homolog 1 chr4 GO:0060348 Not Cancer Driver No 54 0.116 161 22 0.137 0
SMAD5_ENST00000509297 SMAD5 Q99717 Mothers against decapentaplegic homolog 5 chr5 GO:0060348 Not Cancer Driver No 44 0.095 172 11 0.064 0
SPNS2 SPNS2 Q8IVW8 Sphingosine-1-phosphate transporter SPNS2 chr17 GO:0060348 Not Cancer Driver No 54 0.098 82 0 0.0 0
SRD5A1 SRD5A1 P18405 3-oxo-5-alpha-steroid 4-dehydrogenase 1 chr5 GO:0060348 Not Cancer Driver No 35 0.135 0 0 0.0 0
SRD5A2 SRD5A2 P31213 3-oxo-5-alpha-steroid 4-dehydrogenase 2 chr2 GO:0060348 Not Cancer Driver No 48 0.189 0 0 0.0 21
STC1 STC1 P52823 Stanniocalcin-1 chr8 GO:0060348 Not Cancer Driver No 59 0.239 58 12 0.207 0
SULF1_ENST00000458141 SULF1 Q8IWU6 Extracellular sulfatase Sulf-1 chr8 GO:0060348 Not Cancer Driver No 246 0.282 269 71 0.264 0
SULF2_ENST00000484875 SULF2 Q8IWU5 Extracellular sulfatase Sulf-2 chr20 GO:0060348 Not Cancer Driver No 145 0.167 142 18 0.127 0
TGM2 TGM2 P21980 Protein-glutamine gamma-glutamyltransferase 2 chr20 GO:0060348 Not Cancer Driver No 123 0.179 107 26 0.243 0
TMEM38B TMEM38B Q9NVV0 Trimeric intracellular cation channel type B chr9 GO:0060348 Not Cancer Driver No 47 0.162 37 7 0.189 0
TRIM45 TRIM45 Q9H8W5 Tripartite motif-containing protein 45 chr1 GO:0060348 Not Cancer Driver No 71 0.122 58 9 0.155 0
TTC9 TTC9 Q92623 Tetratricopeptide repeat protein 9A chr14 GO:0060348 Not Cancer Driver No 20 0.09 93 1 0.011 0
TULP3_ENST00000448120 TULP3 O75386 Tubby-related protein 3 chr12 GO:0060348 Not Cancer Driver No 66 0.149 218 29 0.133 0
VKORC1 VKORC1 Q9BQB6 Vitamin K epoxide reductase complex subunit 1 chr16 GO:0060348 Not Cancer Driver No 14 0.086 3 0 0.0 19
WNT1 WNT1 P04628 Proto-oncogene Wnt-1 chr12 GO:0060348 Not Cancer Driver No 29 0.078 25 0 0.0 8