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 |