Total number of protein in "GO:0001750" 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA4 | ABCA4 | P78363 | Retinal-specific phospholipid-transporting ATPase ABCA4 | chr1 | GO:0001750 | Not Cancer Driver | No | 363 | 0.16 | 244 | 33 | 0.135 | 226 |
| ARR3 | ARR3 | P36575 | Arrestin-C | chrX | GO:0001750 | Not Cancer Driver | No | 52 | 0.134 | 63 | 7 | 0.111 | 0 |
| ATP1A4 | ATP1A4 | Q13733 | Sodium/potassium-transporting ATPase subunit alpha-4 | chr1 | GO:0001750 | Not Cancer Driver | No | 195 | 0.19 | 117 | 24 | 0.205 | 0 |
| ATP8A2 | ATP8A2 | Q9NTI2 | Phospholipid-transporting ATPase IB | chr13 | GO:0001750 | Not Cancer Driver | No | 236 | 0.199 | 78 | 14 | 0.179 | 1 |
| BBS4 | BBS4 | Q96RK4 | Bardet-Biedl syndrome 4 protein | chr15 | GO:0001750 | Not Cancer Driver | No | 58 | 0.112 | 110 | 16 | 0.145 | 9 |
| BBS7 | BBS7 | Q8IWZ6 | Bardet-Biedl syndrome 7 protein | chr4 | GO:0001750 | Not Cancer Driver | No | 99 | 0.138 | 56 | 8 | 0.143 | 4 |
| BSG | BSG | P35613 | Basigin | chr19 | GO:0001750 | Not Cancer Driver | No | 43 | 0.112 | 123 | 17 | 0.138 | 0 |
| CACNA1F | CACNA1F | O60840 | Voltage-dependent L-type calcium channel subunit alpha-1F | chrX | GO:0001750 | Not Cancer Driver | No | 284 | 0.144 | 530 | 78 | 0.147 | 20 |
| CCDC66 | CCDC66 | A2RUB6 | Coiled-coil domain-containing protein 66 | chr3 | GO:0001750 | Not Cancer Driver | No | 91 | 0.096 | 811 | 77 | 0.095 | 0 |
| CEP250 | CEP250 | Q9BV73 | Centrosome-associated protein CEP250 | chr20 | GO:0001750 | Not Cancer Driver | No | 250 | 0.102 | 1859 | 195 | 0.105 | 0 |
| CERKL | CERKL | Q49MI3 | Ceramide kinase-like protein | chr2 | GO:0001750 | Not Cancer Driver | No | 126 | 0.226 | 89 | 27 | 0.303 | 1 |
| CFAP410_ENST00000339818 | CFAP410 | O43822 | Cilia- and flagella-associated protein 410 | chr21 | GO:0001750 | Not Cancer Driver | No | 17 | 0.066 | 134 | 10 | 0.075 | 7 |
| CIB2 | CIB2 | O75838 | Calcium and integrin-binding family member 2 | chr15 | GO:0001750 | Not Cancer Driver | No | 25 | 0.134 | 7 | 0 | 0.0 | 5 |
| CNGB1 | CNGB1 | Q14028 | Cyclic nucleotide-gated cation channel beta-1 | chr16 | GO:0001750 | Not Cancer Driver | No | 206 | 0.165 | 789 | 120 | 0.152 | 1 |
| CNGB3 | CNGB3 | Q9NQW8 | Cyclic nucleotide-gated cation channel beta-3 | chr8 | GO:0001750 | Not Cancer Driver | No | 244 | 0.302 | 338 | 123 | 0.364 | 8 |
| CRB1 | CRB1 | P82279 | Protein crumbs homolog 1 | chr1 | GO:0001750 | Not Cancer Driver | No | 464 | 0.33 | 28 | 5 | 0.179 | 74 |
| EYS | EYS | Q5T1H1 | Protein eyes shut homolog | chr6 | GO:0001750 | Not Cancer Driver | No | 447 | 0.141 | 109 | 9 | 0.083 | 16 |
| GNA11 | GNA11 | P29992 | Guanine nucleotide-binding protein subunit alpha-11 | chr19 | GO:0001750 | Census, Compendium | Yes | 48 | 0.134 | 10 | 0 | 0.0 | 5 |
| GNAQ | GNAQ | P50148 | Guanine nucleotide-binding protein G(q) subunit alpha | chr9 | GO:0001750 | Census, Compendium | Yes | 57 | 0.159 | 14 | 1 | 0.071 | 1 |
| GNAT1 | GNAT1 | P11488 | Guanine nucleotide-binding protein G(t) subunit alpha-1 | chr3 | GO:0001750 | 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:0001750 | Not Cancer Driver | No | 38 | 0.107 | 44 | 7 | 0.159 | 0 |
| GNAT3 | GNAT3 | A8MTJ3 | Guanine nucleotide-binding protein G(t) subunit alpha-3 | chr7 | GO:0001750 | Not Cancer Driver | No | 61 | 0.172 | 38 | 6 | 0.158 | 0 |
| GUCA1A | GUCA1A | P43080 | Guanylyl cyclase-activating protein 1 | chr6 | GO:0001750 | Not Cancer Driver | No | 39 | 0.194 | 20 | 4 | 0.2 | 17 |
| GUCA1B | GUCA1B | Q9UMX6 | Guanylyl cyclase-activating protein 2 | chr6 | GO:0001750 | Not Cancer Driver | No | 26 | 0.13 | 2 | 0 | 0.0 | 1 |
| GUCY2D | GUCY2D | Q02846 | Retinal guanylyl cyclase 1 | chr17 | GO:0001750 | Not Cancer Driver | No | 138 | 0.125 | 205 | 34 | 0.166 | 32 |
| GUCY2F | GUCY2F | P51841 | Retinal guanylyl cyclase 2 | chrX | GO:0001750 | Not Cancer Driver | No | 230 | 0.208 | 88 | 15 | 0.17 | 0 |
| IFT140 | IFT140 | Q96RY7 | Intraflagellar transport protein 140 homolog | chr16 | GO:0001750 | Not Cancer Driver | No | 176 | 0.12 | 161 | 27 | 0.168 | 10 |
| IFT20_ENST00000395418 | IFT20 | Q8IY31 | Intraflagellar transport protein 20 homolog | chr17 | GO:0001750 | Not Cancer Driver | No | 11 | 0.083 | 0 | 0 | 0.0 | 0 |
| IMPG1 | IMPG1 | Q17R60 | Interphotoreceptor matrix proteoglycan 1 | chr6 | GO:0001750 | Not Cancer Driver | No | 238 | 0.299 | 359 | 92 | 0.256 | 1 |
| INHA | INHA | P05111 | Inhibin alpha chain | chr2 | GO:0001750 | Not Cancer Driver | No | 48 | 0.131 | 144 | 15 | 0.104 | 0 |
| IQCB1 | IQCB1 | Q15051 | IQ calmodulin-binding motif-containing protein 1 | chr3 | GO:0001750 | Not Cancer Driver | No | 72 | 0.12 | 88 | 8 | 0.091 | 0 |
| LYAR_ENST00000452476 | LYAR | Q9NX58 | Cell growth-regulating nucleolar protein | chr4 | GO:0001750 | Not Cancer Driver | No | 50 | 0.132 | 249 | 31 | 0.124 | 0 |
| MAK_ENST00000474039 | MAK | P20794 | Serine/threonine-protein kinase MAK | chr6 | GO:0001750 | Not Cancer Driver | No | 80 | 0.128 | 323 | 51 | 0.158 | 5 |
| MAP1B | MAP1B | P46821 | Microtubule-associated protein 1B | chr5 | GO:0001750 | Not Cancer Driver | No | 332 | 0.135 | 1947 | 278 | 0.143 | 0 |
| MERTK_ENST00000421804 | MERTK | Q12866 | Tyrosine-protein kinase Mer | chr2 | GO:0001750 | Not Cancer Driver | No | 175 | 0.175 | 159 | 31 | 0.195 | 3 |
| MYO7A | MYO7A | Q13402 | Unconventional myosin-VIIa | chr11 | GO:0001750 | Not Cancer Driver | No | 298 | 0.135 | 369 | 58 | 0.157 | 50 |
| MYRIP | MYRIP | Q8NFW9 | Rab effector MyRIP | chr3 | GO:0001750 | Not Cancer Driver | No | 133 | 0.155 | 599 | 95 | 0.159 | 0 |
| NXNL1 | NXNL1 | Q96CM4 | Nucleoredoxin-like protein 1 | chr19 | GO:0001750 | Not Cancer Driver | No | 27 | 0.127 | 50 | 2 | 0.04 | 0 |
| OCRL | OCRL | Q01968 | Inositol polyphosphate 5-phosphatase OCRL | chrX | GO:0001750 | Not Cancer Driver | No | 151 | 0.168 | 126 | 24 | 0.19 | 41 |
| OPN1LW | OPN1LW | P04000 | Long-wave-sensitive opsin 1 | chrX | GO:0001750 | Not Cancer Driver | No | 72 | 0.198 | 9 | 0 | 0.0 | 3 |
| OPN1MW | OPN1MW | P04001 | Medium-wave-sensitive opsin 1 | chrX | GO:0001750 | Not Cancer Driver | No | 10 | 0.027 | 6 | 0 | 0.0 | 5 |
| OPN1MW2 | OPN1MW2 | P0DN77 | Medium-wave-sensitive opsin 2 | chrX | GO:0001750 | Not Cancer Driver | No | 22 | 0.06 | 6 | 0 | 0.0 | 0 |
| OPN1SW | OPN1SW | P03999 | Short-wave-sensitive opsin 1 | chr7 | GO:0001750 | Not Cancer Driver | No | 65 | 0.187 | 20 | 1 | 0.05 | 4 |
| OPN3 | OPN3 | Q9H1Y3 | Opsin-3 | chr1 | GO:0001750 | Not Cancer Driver | No | 39 | 0.097 | 6 | 1 | 0.167 | 0 |
| PCARE | PCARE | A6NGG8 | Photoreceptor cilium actin regulator | chr2 | GO:0001750 | Not Cancer Driver | No | 216 | 0.168 | 1144 | 192 | 0.168 | 4 |
| PCDH15_ENST00000320301 | PCDH15 | Q96QU1 | Protocadherin-15 | chr10 | GO:0001750 | Not Cancer Driver | No | 808 | 0.413 | 686 | 272 | 0.397 | 4 |
| PDC | PDC | P20941 | Phosducin | chr1 | GO:0001750 | Not Cancer Driver | No | 26 | 0.106 | 91 | 14 | 0.154 | 0 |
| PEX6 | PEX6 | Q13608 | Peroxisome assembly factor 2 | chr6 | GO:0001750 | Not Cancer Driver | No | 72 | 0.073 | 177 | 9 | 0.051 | 11 |
| PIP4K2A | PIP4K2A | P48426 | Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha | chr10 | GO:0001750 | Not Cancer Driver | No | 56 | 0.138 | 123 | 15 | 0.122 | 0 |
| PPEF2 | PPEF2 | O14830 | Serine/threonine-protein phosphatase with EF-hands 2 | chr4 | GO:0001750 | Not Cancer Driver | No | 144 | 0.191 | 130 | 29 | 0.223 | 0 |
| PROM1 | PROM1 | O43490 | Prominin-1 | chr4 | GO:0001750 | Not Cancer Driver | No | 94 | 0.109 | 76 | 9 | 0.118 | 3 |
| PRPH2 | PRPH2 | P23942 | Peripherin-2 | chr6 | GO:0001750 | Not Cancer Driver | No | 54 | 0.156 | 35 | 2 | 0.057 | 44 |
| PTGS1 | PTGS1 | P23219 | Prostaglandin G/H synthase 1 | chr9 | GO:0001750 | Not Cancer Driver | No | 123 | 0.205 | 28 | 3 | 0.107 | 0 |
| RAB27A_ENST00000336787 | RAB27A | P51159 | Ras-related protein Rab-27A | chr15 | GO:0001750 | Not Cancer Driver | No | 25 | 0.113 | 15 | 4 | 0.267 | 3 |
| RCVRN | RCVRN | P35243 | Recoverin | chr17 | GO:0001750 | Not Cancer Driver | No | 37 | 0.185 | 24 | 5 | 0.208 | 0 |
| RD3 | RD3 | Q7Z3Z2 | Protein RD3 | chr1 | GO:0001750 | Not Cancer Driver | No | 46 | 0.236 | 75 | 21 | 0.28 | 0 |
| RGR | RGR | P47804 | RPE-retinal G protein-coupled receptor | chr10 | GO:0001750 | Not Cancer Driver | No | 42 | 0.144 | 6 | 3 | 0.5 | 1 |
| RGS9BP | RGS9BP | Q6ZS82 | Regulator of G-protein signaling 9-binding protein | chr19 | GO:0001750 | Not Cancer Driver | No | 16 | 0.068 | 22 | 1 | 0.045 | 0 |
| RHO | RHO | P08100 | Rhodopsin | chr3 | GO:0001750 | Not Cancer Driver | No | 68 | 0.195 | 18 | 3 | 0.167 | 69 |
| RP1 | RP1 | P56715 | Oxygen-regulated protein 1 | chr8 | GO:0001750 | Not Cancer Driver | No | 737 | 0.342 | 1215 | 441 | 0.363 | 6 |
| RP1L1 | RP1L1 | Q8IWN7 | Retinitis pigmentosa 1-like 1 protein | chr8 | GO:0001750 | Not Cancer Driver | No | 602 | 0.251 | 2194 | 553 | 0.252 | 2 |
| RPGR_ENST00000339363 | RPGR | Q92834 | X-linked retinitis pigmentosa GTPase regulator | chrX | GO:0001750 | Not Cancer Driver | No | 115 | 0.113 | 639 | 64 | 0.1 | 25 |
| RRH | RRH | O14718 | Visual pigment-like receptor peropsin | chr4 | GO:0001750 | Not Cancer Driver | No | 34 | 0.101 | 15 | 0 | 0.0 | 0 |
| SAG | SAG | P10523 | S-arrestin | chr2 | GO:0001750 | Not Cancer Driver | No | 70 | 0.173 | 102 | 11 | 0.108 | 0 |
| SHANK2_ENST00000601538 | SHANK2 | Q9UPX8 | SH3 and multiple ankyrin repeat domains protein 2 | chr11 | GO:0001750 | Not Cancer Driver | No | 303 | 0.164 | 1379 | 262 | 0.19 | 0 |
| SLC24A4 | SLC24A4 | Q8NFF2 | Sodium/potassium/calcium exchanger 4 | chr14 | GO:0001750 | Not Cancer Driver | No | 121 | 0.195 | 85 | 14 | 0.165 | 2 |
| SPATA7 | SPATA7 | Q9P0W8 | Spermatogenesis-associated protein 7 | chr14 | GO:0001750 | Not Cancer Driver | No | 89 | 0.149 | 408 | 70 | 0.172 | 0 |
| TMEM237 | TMEM237 | Q96Q45 | Transmembrane protein 237 | chr2 | GO:0001750 | Not Cancer Driver | No | 47 | 0.115 | 177 | 19 | 0.107 | 0 |
| TULP1 | TULP1 | O00294 | Tubby-related protein 1 | chr6 | GO:0001750 | Not Cancer Driver | No | 101 | 0.186 | 377 | 76 | 0.202 | 12 |
| USH1C_ENST00000318024 | USH1C | Q9Y6N9 | Harmonin | chr11 | GO:0001750 | Not Cancer Driver | No | 118 | 0.214 | 153 | 45 | 0.294 | 0 |
| VCAN | VCAN | P13611 | Versican core protein | chr5 | GO:0001750 | Not Cancer Driver | No | 647 | 0.191 | 2643 | 483 | 0.183 | 0 |
| WDR19 | WDR19 | Q8NEZ3 | WD repeat-containing protein 19 | chr4 | GO:0001750 | Not Cancer Driver | No | 117 | 0.087 | 19 | 0 | 0.0 | 11 |