Total number of protein in "GO:0045494" GO term: 44
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA4-201 | ABCA4 | P78363 | Retinal-specific phospholipid-transporting ATPase ABCA4 | chr1 | GO:0045494 | Not Cancer Driver | No | 272 | 0.1196656401231852 | 245 | 23 | 0.0101187857457105 | 205 |
| ADGRV1-201 | ADGRV1 | Q8WXG9 | Adhesion G-protein coupled receptor V1 | chr5 | GO:0045494 | Not Cancer Driver | No | 871 | 0.1381224230891214 | 499 | 64 | 0.0101490643831271 | 2 |
| ATP1B2-201 | ATP1B2 | P14415 | Sodium/potassium-transporting ATPase subunit beta-2 | chr17 | GO:0045494 | Not Cancer Driver | No | 25 | 0.0862068965517241 | 16 | 4 | 0.0137931034482758 | 0 |
| BBS1-201 | BBS1 | Q8NFJ9 | Bardet-Biedl syndrome 1 protein | chr11 | GO:0045494 | Not Cancer Driver | No | 52 | 0.087689713322091 | 100 | 9 | 0.0151770657672849 | 11 |
| BBS10-201 | BBS10 | Q8TAM1 | Bardet-Biedl syndrome 10 protein | chr12 | GO:0045494 | Not Cancer Driver | No | 46 | 0.0636237897648686 | 67 | 6 | 0.0082987551867219 | 23 |
| BBS12-201 | BBS12 | Q6ZW61 | Bardet-Biedl syndrome 12 protein | chr4 | GO:0045494 | Not Cancer Driver | No | 60 | 0.0845070422535211 | 34 | 2 | 0.0028169014084507 | 10 |
| BBS2-201 | BBS2 | Q9BXC9 | Bardet-Biedl syndrome 2 protein | chr16 | GO:0045494 | Not Cancer Driver | No | 60 | 0.0832177531206657 | 76 | 8 | 0.0110957004160887 | 20 |
| BBS4-201 | BBS4 | Q96RK4 | Bardet-Biedl syndrome 4 protein | chr15 | GO:0045494 | Not Cancer Driver | No | 44 | 0.0847784200385356 | 111 | 14 | 0.0269749518304431 | 9 |
| CDH23-201 | CDH23 | Q9H251 | Cadherin-23 | chr10 | GO:0045494 | Not Cancer Driver | No | 339 | 0.1010733452593917 | 680 | 64 | 0.0190816935002981 | 59 |
| CDHR1-206 | CDHR1 | Q96JP9 | Cadherin-related family member 1 | chr10 | GO:0045494 | Not Cancer Driver | No | 123 | 0.1431897555296856 | 278 | 33 | 0.0384167636786961 | 1 |
| CIB2-201 | CIB2 | O75838 | Calcium and integrin-binding family member 2 | chr15 | GO:0045494 | Not Cancer Driver | No | 21 | 0.1122994652406417 | 8 | 0 | 0.0 | 8 |
| CLCN3-208 | CLCN3 | P51790 | H(+)/Cl(-) exchange transporter 3 | chr4 | GO:0045494 | Not Cancer Driver | No | 67 | 0.0819070904645476 | 88 | 4 | 0.0048899755501222 | 7 |
| CLN8-201 | CLN8 | Q9UBY8 | Protein CLN8 | chr8 | GO:0045494 | Not Cancer Driver | No | 35 | 0.1223776223776223 | 16 | 3 | 0.0104895104895104 | 15 |
| CLRN1-202 | CLRN1 | P58418 | Clarin-1 | chr3 | GO:0045494 | Not Cancer Driver | No | 33 | 0.1422413793103448 | 0 | 0 | 0.0 | 8 |
| CNGB1-201 | CNGB1 | Q14028 | Cyclic nucleotide-gated cation channel beta-1 | chr16 | GO:0045494 | Not Cancer Driver | No | 156 | 0.1247002398081534 | 797 | 93 | 0.0743405275779376 | 1 |
| CRB1-203 | CRB1 | P82279 | Protein crumbs homolog 1 | chr1 | GO:0045494 | Not Cancer Driver | No | 364 | 0.2588904694167852 | 28 | 4 | 0.0028449502133712 | 78 |
| CRB2-202 | CRB2 | Q5IJ48 | Protein crumbs homolog 2 | chr9 | GO:0045494 | Not Cancer Driver | No | 109 | 0.0848249027237354 | 74 | 1 | 0.0007782101167315 | 5 |
| CROCC-201 | CROCC | Q5TZA2 | Rootletin | chr1 | GO:0045494 | Not Cancer Driver | No | 128 | 0.0634605850272682 | 1589 | 93 | 0.0461080813088745 | 0 |
| DRAM2-207 | DRAM2 | Q6UX65 | DNA damage-regulated autophagy modulator protein 2 | chr1 | GO:0045494 | Not Cancer Driver | No | 18 | 0.0676691729323308 | 0 | 0 | 0.0 | 3 |
| ENST00000419755 | BBS1 | Q8NFJ9 | Bardet-Biedl syndrome 1 protein | chr11 | GO:0045494 | Not Cancer Driver | No | 52 | 0.0825396825396825 | 132 | 7 | 0.0111111111111111 | 11 |
| ERCC6-201 | ERCC6 | Q03468 | DNA excision repair protein ERCC-6 | chr10 | GO:0045494 | Not Cancer Driver | No | 142 | 0.0951105157401205 | 837 | 82 | 0.0549229738780977 | 9 |
| ESRRB-208 | ESRRB | O95718 | Steroid hormone receptor ERR2 | chr14 | GO:0045494 | Not Cancer Driver | No | 71 | 0.1563876651982378 | 41 | 7 | 0.0154185022026431 | 4 |
| IQCB1-201 | IQCB1 | Q15051 | IQ calmodulin-binding motif-containing protein 1 | chr3 | GO:0045494 | Not Cancer Driver | No | 46 | 0.0769230769230769 | 89 | 6 | 0.0100334448160535 | 0 |
| LCA5-201 | LCA5 | Q86VQ0 | Lebercilin | chr6 | GO:0045494 | Not Cancer Driver | No | 67 | 0.0961262553802008 | 599 | 55 | 0.078909612625538 | 0 |
| MAK-201 | MAK | P20794 | Serine/threonine-protein kinase MAK | chr6 | GO:0045494 | Not Cancer Driver | No | 48 | 0.0770465489566613 | 324 | 30 | 0.0481540930979133 | 5 |
| MKKS-201 | MKKS | Q9NPJ1 | Molecular chaperone MKKS | chr20 | GO:0045494 | Not Cancer Driver | No | 35 | 0.0614035087719298 | 7 | 0 | 0.0 | 22 |
| NPHP3-201 | NPHP3 | Q7Z494 | Nephrocystin-3 | chr3 | GO:0045494 | Not Cancer Driver | No | 89 | 0.0669172932330827 | 250 | 24 | 0.0180451127819548 | 7 |
| NPHP4-201 | NPHP4 | O75161 | Nephrocystin-4 | chr1 | GO:0045494 | Not Cancer Driver | No | 137 | 0.0960729312762973 | 474 | 44 | 0.0308555399719495 | 17 |
| NXNL1-201 | NXNL1 | Q96CM4 | Nucleoredoxin-like protein 1 | chr19 | GO:0045494 | Not Cancer Driver | No | 16 | 0.0754716981132075 | 51 | 1 | 0.0047169811320754 | 0 |
| NXNL2-201 | NXNL2 | Q5VZ03 | Nucleoredoxin-like protein 2 | chr9 | GO:0045494 | Not Cancer Driver | No | 12 | 0.0769230769230769 | 0 | 0 | 0.0 | 0 |
| PCDH15-201 | PCDH15 | Q96QU1 | Protocadherin-15 | chr10 | GO:0045494 | Not Cancer Driver | No | 575 | 0.2941176470588235 | 690 | 155 | 0.0792838874680307 | 4 |
| PROM1-201 | PROM1 | O43490 | Prominin-1 | chr4 | GO:0045494 | Not Cancer Driver | No | 65 | 0.0751445086705202 | 76 | 6 | 0.006936416184971 | 3 |
| RDH12-203 | RDH12 | Q96NR8 | Retinol dehydrogenase 12 | chr14 | GO:0045494 | Not Cancer Driver | No | 31 | 0.0981012658227848 | 0 | 0 | 0.0 | 9 |
| RHO-201 | RHO | P08100 | Rhodopsin | chr3 | GO:0045494 | Not Cancer Driver | No | 50 | 0.1436781609195402 | 18 | 2 | 0.0057471264367816 | 50 |
| RP1-201 | RP1 | P56715 | Oxygen-regulated protein 1 | chr8 | GO:0045494 | Not Cancer Driver | No | 607 | 0.2815398886827458 | 1218 | 357 | 0.1655844155844155 | 6 |
| RP1L1-202 | RP1L1 | Q8IWN7 | Retinitis pigmentosa 1-like 1 protein | chr8 | GO:0045494 | Not Cancer Driver | No | 259 | 0.1079166666666666 | 2205 | 227 | 0.0945833333333333 | 2 |
| SLC2A1-203 | SLC2A1 | P11166 | Solute carrier family 2, facilitated glucose transporter member 1 | chr1 | GO:0045494 | Not Cancer Driver | No | 43 | 0.0873983739837398 | 13 | 2 | 0.0040650406504065 | 44 |
| SPATA7-203 | SPATA7 | Q9P0W8 | Spermatogenesis-associated protein 7 | chr14 | GO:0045494 | Not Cancer Driver | No | 59 | 0.0984974958263772 | 414 | 46 | 0.0767946577629382 | 0 |
| TUB-201 | TUB | P50607 | Tubby protein homolog | chr11 | GO:0045494 | Not Cancer Driver | No | 69 | 0.1363636363636363 | 360 | 43 | 0.0849802371541501 | 0 |
| TULP1-201 | TULP1 | O00294 | Tubby-related protein 1 | chr6 | GO:0045494 | Not Cancer Driver | No | 80 | 0.1476014760147601 | 379 | 56 | 0.1033210332103321 | 12 |
| USH1C-202 | USH1C | Q9Y6N9 | Harmonin | chr11 | GO:0045494 | Not Cancer Driver | No | 79 | 0.1431159420289855 | 154 | 32 | 0.0579710144927536 | 0 |
| USH1G-202 | USH1G | Q495M9 | pre-mRNA splicing regulator USH1G | chr17 | GO:0045494 | Not Cancer Driver | No | 61 | 0.1323210412147505 | 256 | 30 | 0.0650759219088937 | 3 |
| USH2A-201 | USH2A | O75445 | Usherin | chr1 | GO:0045494 | Not Cancer Driver | No | 1235 | 0.2374086889657824 | 780 | 195 | 0.0374855824682814 | 68 |
| USP45-208 | USP45 | Q70EL2 | Ubiquitin carboxyl-terminal hydrolase 45 | chr6 | GO:0045494 | Not Cancer Driver | No | 60 | 0.0737100737100737 | 277 | 20 | 0.0245700245700245 | 0 |