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Total number of protein in "GO:0060170" GO term:  72

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
ADCY3_ENST00000260600 ADCY3 O60266 Adenylate cyclase type 3 chr2 GO:0060170 Not Cancer Driver No 135 0.118 185 18 0.097 0
ARL13B ARL13B Q3SXY8 ADP-ribosylation factor-like protein 13B chr3 GO:0060170 Not Cancer Driver No 62 0.145 251 40 0.159 3
BBS1 BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 protein chr11 GO:0060170 Not Cancer Driver No 69 0.116 99 14 0.141 12
BBS2 BBS2 Q9BXC9 Bardet-Biedl syndrome 2 protein chr16 GO:0060170 Not Cancer Driver No 90 0.125 76 16 0.211 20
BBS4 BBS4 Q96RK4 Bardet-Biedl syndrome 4 protein chr15 GO:0060170 Not Cancer Driver No 58 0.112 110 16 0.145 9
BBS5 BBS5 Q8N3I7 Bardet-Biedl syndrome 5 protein chr2 GO:0060170 Not Cancer Driver No 39 0.114 20 1 0.05 2
BBS7 BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 protein chr4 GO:0060170 Not Cancer Driver No 99 0.138 56 8 0.143 4
BBS9 BBS9 Q3SYG4 Protein PTHB1 chr7 GO:0060170 Not Cancer Driver No 152 0.171 103 23 0.223 1
CASK_ENST00000378163 CASK O14936 Peripheral plasma membrane protein CASK chrX GO:0060170 Not Cancer Driver No 118 0.127 285 45 0.158 4
CDHR1 CDHR1 Q96JP9 Cadherin-related family member 1 chr10 GO:0060170 Not Cancer Driver No 149 0.173 277 42 0.152 1
CLTB CLTB P09497 Clathrin light chain B chr5 GO:0060170 Not Cancer Driver No 33 0.144 193 28 0.145 0
CNGA1_ENST00000420489 CNGA1 P29973 cGMP-gated cation channel alpha-1 chr4 GO:0060170 Not Cancer Driver No 136 0.198 185 37 0.2 1
CNGA2 CNGA2 Q16280 Cyclic nucleotide-gated olfactory channel chrX GO:0060170 Not Cancer Driver No 159 0.239 161 33 0.205 0
CNGA4 CNGA4 Q8IV77 Cyclic nucleotide-gated cation channel alpha-4 chr11 GO:0060170 Not Cancer Driver No 132 0.23 79 13 0.165 0
CNGB1 CNGB1 Q14028 Cyclic nucleotide-gated cation channel beta-1 chr16 GO:0060170 Not Cancer Driver No 206 0.165 789 120 0.152 1
CYS1 CYS1 Q717R9 Cystin-1 chr2 GO:0060170 Not Cancer Driver No 8 0.051 156 8 0.051 0
DHRS3 DHRS3 O75911 Short-chain dehydrogenase/reductase 3 chr1 GO:0060170 Not Cancer Driver No 33 0.109 0 0 0.0 0
DRD1 DRD1 P21728 D(1A) dopamine receptor chr5 GO:0060170 Not Cancer Driver No 73 0.164 30 4 0.133 0
DRD2_ENST00000542968 DRD2 P14416 D(2) dopamine receptor chr11 GO:0060170 Not Cancer Driver No 127 0.287 124 45 0.363 0
DRD5 DRD5 P21918 D(1B) dopamine receptor chr4 GO:0060170 Not Cancer Driver No 172 0.361 29 18 0.621 0
EFCAB7 EFCAB7 A8K855 EF-hand calcium-binding domain-containing protein 7 chr1 GO:0060170 Not Cancer Driver No 78 0.124 97 17 0.175 0
EHD1_ENST00000359393 EHD1 Q9H4M9 EH domain-containing protein 1 chr11 GO:0060170 Not Cancer Driver No 72 0.135 90 12 0.133 0
EHD3 EHD3 Q9NZN3 EH domain-containing protein 3 chr2 GO:0060170 Not Cancer Driver No 104 0.194 77 18 0.234 0
EVC EVC P57679 Ellis-van Creveld syndrome protein chr4 GO:0060170 Not Cancer Driver No 143 0.144 373 60 0.161 4
EVC2 EVC2 Q86UK5 Limbin chr4 GO:0060170 Not Cancer Driver No 240 0.183 335 71 0.212 2
FFAR4_ENST00000371481 FFAR4 Q5NUL3 Free fatty acid receptor 4 chr10 GO:0060170 Not Cancer Driver No 47 0.13 0 0 0.0 0
GNAT1 GNAT1 P11488 Guanine nucleotide-binding protein G(t) subunit alpha-1 chr3 GO:0060170 Not Cancer Driver No 43 0.123 39 6 0.154 3
GNAT2 GNAT2 P19087 Guanine nucleotide-binding protein G(t) subunit alpha-2 chr1 GO:0060170 Not Cancer Driver No 38 0.107 44 7 0.159 0
GPI_ENST00000644934 GPI P06744 Glucose-6-phosphate isomerase chr19 GO:0060170 Not Cancer Driver No 77 0.138 73 11 0.151 24
GPR157 GPR157 Q5UAW9 G-protein coupled receptor 157 chr1 GO:0060170 Not Cancer Driver No 37 0.11 38 6 0.158 0
GPR161_ENST00000367835 GPR161 Q8N6U8 G-protein coupled receptor 161 chr1 GO:0060170 Not Cancer Driver No 84 0.159 108 16 0.148 0
GPR37L1 GPR37L1 O60883 G-protein coupled receptor 37-like 1 chr1 GO:0060170 Not Cancer Driver No 62 0.129 81 8 0.099 0
GUCY2D GUCY2D Q02846 Retinal guanylyl cyclase 1 chr17 GO:0060170 Not Cancer Driver No 138 0.125 205 34 0.166 32
HHIP HHIP Q96QV1 Hedgehog-interacting protein chr4 GO:0060170 Not Cancer Driver No 150 0.214 73 34 0.466 0
IQCE_ENST00000402050 IQCE Q6IPM2 IQ domain-containing protein E chr7 GO:0060170 Not Cancer Driver No 101 0.145 643 102 0.159 0
MCHR1 MCHR1 Q99705 Melanin-concentrating hormone receptor 1 chr22 GO:0060170 Not Cancer Driver No 64 0.152 100 12 0.12 0
MOSMO MOSMO Q8NHV5 Modulator of smoothened protein chr16 GO:0060170 Not Cancer Driver No 3 0.018 0 0 0.0 0
MXRA8_ENST00000309212 MXRA8 Q9BRK3 Matrix remodeling-associated protein 8 chr1 GO:0060170 Not Cancer Driver No 46 0.104 93 11 0.118 0
NAPEPLD NAPEPLD Q6IQ20 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D chr7 GO:0060170 Not Cancer Driver No 55 0.14 76 7 0.092 0
PDE6A PDE6A P16499 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha chr5 GO:0060170 Not Cancer Driver No 139 0.162 91 12 0.132 5
PDE6B PDE6B P35913 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta chr4 GO:0060170 Not Cancer Driver No 144 0.169 44 9 0.205 13
PDE6G PDE6G P18545 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma chr17 GO:0060170 Not Cancer Driver No 15 0.172 58 11 0.19 0
PDE6H PDE6H Q13956 Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma chr12 GO:0060170 Not Cancer Driver No 15 0.181 59 14 0.237 0
PHLPP2 PHLPP2 Q6ZVD8 PH domain leucine-rich repeat-containing protein phosphatase 2 chr16 GO:0060170 Not Cancer Driver No 157 0.119 309 37 0.12 0
PKD1 PKD1 P98161 Polycystin-1 chr16 GO:0060170 Not Cancer Driver No 393 0.091 690 66 0.096 92
PKD1L1 PKD1L1 Q8TDX9 Polycystic kidney disease protein 1-like 1 chr7 GO:0060170 Not Cancer Driver No 492 0.173 518 97 0.187 1
PKD2 PKD2 Q13563 Polycystin-2 chr4 GO:0060170 Not Cancer Driver No 113 0.117 375 35 0.093 10
PKD2L1 PKD2L1 Q9P0L9 Polycystic kidney disease 2-like 1 protein chr10 GO:0060170 Not Cancer Driver No 135 0.168 180 32 0.178 0
PRCD_ENST00000592014 PRCD Q00LT1 Photoreceptor disk component PRCD chr17 GO:0060170 Not Cancer Driver No 3 0.056 35 2 0.057 2
PROM1 PROM1 O43490 Prominin-1 chr4 GO:0060170 Not Cancer Driver No 94 0.109 76 9 0.118 3
PROM2_ENST00000403131 PROM2 Q8N271 Prominin-2 chr2 GO:0060170 Not Cancer Driver No 111 0.133 34 4 0.118 0
PTCH1 PTCH1 Q13635 Protein patched homolog 1 chr9 GO:0060170 Census, Compendium Yes 243 0.168 382 67 0.175 18
RHO RHO P08100 Rhodopsin chr3 GO:0060170 Not Cancer Driver No 68 0.195 18 3 0.167 69
ROM1 ROM1 Q03395 Rod outer segment membrane protein 1 chr11 GO:0060170 Not Cancer Driver No 41 0.117 26 4 0.154 0
SCNN1A_ENST00000228916 SCNN1A P37088 Amiloride-sensitive sodium channel subunit alpha chr12 GO:0060170 Not Cancer Driver No 73 0.109 146 21 0.144 5
SEPT2_ENST00000360051 SEPTIN2 Q15019 Septin-2 chr2 GO:0060170 Not Cancer Driver No 49 0.136 101 11 0.109 0
SHANK2_ENST00000601538 SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains protein 2 chr11 GO:0060170 Not Cancer Driver No 303 0.164 1379 262 0.19 0
SMO SMO Q99835 Smoothened homolog chr7 GO:0060170 Census, Compendium Yes 112 0.142 241 27 0.112 1
SNAP29 SNAP29 O95721 Synaptosomal-associated protein 29 chr22 GO:0060170 Not Cancer Driver No 21 0.081 246 20 0.081 0
SSTR3 SSTR3 P32745 Somatostatin receptor type 3 chr22 GO:0060170 Not Cancer Driver No 94 0.225 110 26 0.236 0
TAS2R4 TAS2R4 Q9NYW5 Taste receptor type 2 member 4 chr7 GO:0060170 Not Cancer Driver No 29 0.097 0 0 0.0 0
TAS2R43 TAS2R43 P59537 Taste receptor type 2 member 43 chr12 GO:0060170 Not Cancer Driver No 42 0.136 0 0 0.0 0
TAS2R46 TAS2R46 P59540 Taste receptor type 2 member 46 chr12 GO:0060170 Not Cancer Driver No 40 0.129 0 0 0.0 0
TCTN2 TCTN2 Q96GX1 Tectonic-2 chr12 GO:0060170 Not Cancer Driver No 75 0.108 23 2 0.087 0
TCTN3 TCTN3 Q6NUS6 Tectonic-3 chr10 GO:0060170 Not Cancer Driver No 45 0.074 71 8 0.113 1
TMEM17 TMEM17 Q86X19 Transmembrane protein 17 chr2 GO:0060170 Not Cancer Driver No 22 0.111 14 2 0.143 0
TMEM231 TMEM231 Q9H6L2 Transmembrane protein 231 chr16 GO:0060170 Not Cancer Driver No 15 0.047 16 1 0.062 2
TMEM67 TMEM67 Q5HYA8 Meckelin chr8 GO:0060170 Not Cancer Driver No 120 0.121 11 0 0.0 37
TSPEAR_ENST00000613245 TSPEAR Q8WU66 Thrombospondin-type laminin G domain and EAR repeat-containing protein chr21 GO:0060170 Not Cancer Driver No 131 0.196 7 1 0.143 0
TTC8_ENST00000338104 TTC8 Q8TAM2 Tetratricopeptide repeat protein 8 chr14 GO:0060170 Not Cancer Driver No 74 0.137 98 12 0.122 0
TXNDC15 TXNDC15 Q96J42 Thioredoxin domain-containing protein 15 chr5 GO:0060170 Not Cancer Driver No 36 0.1 137 15 0.109 0
UMOD_ENST00000302509 UMOD P07911 Uromodulin chr16 GO:0060170 Not Cancer Driver No 125 0.195 12 1 0.083 37