Total number of protein in "GO:0050896" GO term: 64
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS10-201 | BBS10 | Q8TAM1 | Bardet-Biedl syndrome 10 protein | chr12 | GO:0050896 | Not Cancer Driver | No | 46 | 0.0636237897648686 | 67 | 6 | 0.0082987551867219 | 23 |
BBS5-201 | BBS5 | Q8N3I7 | Bardet-Biedl syndrome 5 protein | chr2 | GO:0050896 | Not Cancer Driver | No | 24 | 0.0703812316715542 | 20 | 0 | 0.0 | 2 |
BBS9-201 | BBS9 | Q3SYG4 | Protein PTHB1 | chr7 | GO:0050896 | Not Cancer Driver | No | 128 | 0.1443066516347237 | 103 | 16 | 0.0180383314543404 | 1 |
BFSP2-201 | BFSP2 | Q13515 | Phakinin | chr3 | GO:0050896 | Not Cancer Driver | No | 62 | 0.1493975903614458 | 211 | 25 | 0.0602409638554216 | 1 |
CABP1-202 | CABP1 | Q9NZU7 | Calcium-binding protein 1 | chr12 | GO:0050896 | Not Cancer Driver | No | 23 | 0.0621621621621621 | 271 | 10 | 0.027027027027027 | 0 |
CALHM1-201 | CALHM1 | Q8IU99 | Calcium homeostasis modulator protein 1 | chr10 | GO:0050896 | Not Cancer Driver | No | 35 | 0.1011560693641618 | 76 | 8 | 0.0231213872832369 | 0 |
CALHM3-201 | CALHM3 | Q86XJ0 | Calcium homeostasis modulator protein 3 | chr10 | GO:0050896 | Not Cancer Driver | No | 8 | 0.0232558139534883 | 50 | 1 | 0.002906976744186 | 0 |
CDH23-201 | CDH23 | Q9H251 | Cadherin-23 | chr10 | GO:0050896 | Not Cancer Driver | No | 339 | 0.1010733452593917 | 680 | 64 | 0.0190816935002981 | 59 |
CLDN19-201 | CLDN19 | Q8N6F1 | Claudin-19 | chr1 | GO:0050896 | Not Cancer Driver | No | 21 | 0.09375 | 20 | 2 | 0.0089285714285714 | 3 |
CLIC5-201 | CLIC5 | Q9NZA1 | Chloride intracellular channel protein 5 | chr6 | GO:0050896 | Not Cancer Driver | No | 47 | 0.1146341463414634 | 206 | 21 | 0.0512195121951219 | 0 |
CLRN1-202 | CLRN1 | P58418 | Clarin-1 | chr3 | GO:0050896 | Not Cancer Driver | No | 33 | 0.1422413793103448 | 0 | 0 | 0.0 | 8 |
CNGA1-206 | CNGA1 | P29973 | cGMP-gated cation channel alpha-1 | chr4 | GO:0050896 | Not Cancer Driver | No | 81 | 0.1180758017492711 | 190 | 23 | 0.0335276967930029 | 1 |
CNGA2-201 | CNGA2 | Q16280 | Cyclic nucleotide-gated olfactory channel | chrX | GO:0050896 | Not Cancer Driver | No | 125 | 0.1882530120481927 | 161 | 31 | 0.0466867469879518 | 0 |
CNGA4-201 | CNGA4 | Q8IV77 | Cyclic nucleotide-gated cation channel alpha-4 | chr11 | GO:0050896 | Not Cancer Driver | No | 97 | 0.168695652173913 | 80 | 10 | 0.017391304347826 | 0 |
CNNM4-201 | CNNM4 | Q6P4Q7 | Metal transporter CNNM4 | chr2 | GO:0050896 | Not Cancer Driver | No | 82 | 0.1058064516129032 | 116 | 21 | 0.0270967741935483 | 4 |
CPLX3-201 | CPLX3 | Q8WVH0 | Complexin-3 | chr15 | GO:0050896 | Not Cancer Driver | No | 19 | 0.120253164556962 | 150 | 18 | 0.1139240506329113 | 0 |
CPLX4-201 | CPLX4 | Q7Z7G2 | Complexin-4 | chr18 | GO:0050896 | Not Cancer Driver | No | 26 | 0.1625 | 142 | 24 | 0.15 | 0 |
CRB2-202 | CRB2 | Q5IJ48 | Protein crumbs homolog 2 | chr9 | GO:0050896 | Not Cancer Driver | No | 109 | 0.0848249027237354 | 74 | 1 | 0.0007782101167315 | 5 |
CRX-201 | CRX | O43186 | Cone-rod homeobox protein | chr19 | GO:0050896 | Not Cancer Driver | No | 80 | 0.2675585284280936 | 207 | 56 | 0.1872909698996655 | 6 |
CRYBB2-201 | CRYBB2 | P43320 | Beta-crystallin B2 | chr22 | GO:0050896 | Not Cancer Driver | No | 36 | 0.1756097560975609 | 126 | 19 | 0.0926829268292682 | 0 |
CYP4V2-201 | CYP4V2 | Q6ZWL3 | Cytochrome P450 4V2 | chr4 | GO:0050896 | Not Cancer Driver | No | 44 | 0.0838095238095238 | 49 | 9 | 0.0171428571428571 | 9 |
FAM161A-203 | FAM161A | Q3B820 | Protein FAM161A | chr2 | GO:0050896 | Not Cancer Driver | No | 63 | 0.0954545454545454 | 516 | 48 | 0.0727272727272727 | 0 |
GFY-202 | GFY | I3L273 | Golgi-associated olfactory signaling regulator | chr19 | GO:0050896 | Not Cancer Driver | No | 0 | 0.0 | 433 | 0 | 0.0 | 0 |
HMCN2-207 | HMCN2 | Q8NDA2 | Hemicentin-2 | chr9 | GO:0050896 | Not Cancer Driver | No | 19 | 0.0037408938767473 | 1744 | 3 | 0.0005906674542232 | 0 |
HPS1-203 | HPS1 | Q92902 | BLOC-3 complex member HPS1 | chr10 | GO:0050896 | Not Cancer Driver | No | 56 | 0.08 | 154 | 13 | 0.0185714285714285 | 0 |
IRX5-202 | IRX5 | P78411 | Iroquois-class homeodomain protein IRX-5 | chr16 | GO:0050896 | Not Cancer Driver | No | 41 | 0.0848861283643892 | 360 | 30 | 0.062111801242236 | 2 |
KERA-201 | KERA | O60938 | Keratocan | chr12 | GO:0050896 | Not Cancer Driver | No | 66 | 0.1875 | 25 | 6 | 0.0170454545454545 | 2 |
LCN1-202 | LCN1 | P31025 | Lipocalin-1 | chr9 | GO:0050896 | Not Cancer Driver | No | 27 | 0.1534090909090909 | 69 | 13 | 0.0738636363636363 | 0 |
LCTL-207 | LCTL | Q6UWM7 | Lactase-like protein | chr15 | GO:0050896 | Not Cancer Driver | No | 62 | 0.109347442680776 | 17 | 3 | 0.0052910052910052 | 0 |
LRIT3-202 | LRIT3 | Q3SXY7 | Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 | chr4 | GO:0050896 | Not Cancer Driver | No | 64 | 0.0942562592047128 | 155 | 24 | 0.0353460972017673 | 2 |
MIP-204 | MIP | P30301 | Lens fiber major intrinsic protein | chr12 | GO:0050896 | Not Cancer Driver | No | 53 | 0.2015209125475285 | 20 | 1 | 0.0038022813688212 | 6 |
MYO3A-207 | MYO3A | Q8NEV4 | Myosin-IIIa | chr10 | GO:0050896 | Not Cancer Driver | No | 315 | 0.1949257425742574 | 555 | 121 | 0.0748762376237623 | 0 |
MYO3B-202 | MYO3B | Q8WXR4 | Myosin-IIIb | chr2 | GO:0050896 | Not Cancer Driver | No | 177 | 0.1319910514541387 | 311 | 45 | 0.0335570469798657 | 0 |
NRL-206 | NRL | P54845 | Neural retina-specific leucine zipper protein | chr14 | GO:0050896 | Not Cancer Driver | No | 14 | 0.0590717299578059 | 186 | 13 | 0.0548523206751054 | 6 |
NYX-202 | NYX | Q9GZU5 | Nyctalopin | chrX | GO:0050896 | Not Cancer Driver | No | 36 | 0.0756302521008403 | 42 | 3 | 0.0063025210084033 | 16 |
OBP2A-203 | OBP2A | Q9NY56 | Odorant-binding protein 2a | chr9 | GO:0050896 | Not Cancer Driver | No | 30 | 0.1764705882352941 | 22 | 1 | 0.0058823529411764 | 0 |
OPA3-201 | OPA3 | Q9H6K4 | Optic atrophy 3 protein | chr19 | GO:0050896 | Not Cancer Driver | No | 3 | 0.0167597765363128 | 44 | 0 | 0.0 | 2 |
PCARE-201 | PCARE | A6NGG8 | Photoreceptor cilium actin regulator | chr2 | GO:0050896 | Not Cancer Driver | No | 165 | 0.1281055900621118 | 1156 | 151 | 0.1172360248447205 | 4 |
PDE6D-201 | PDE6D | O43924 | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta | chr2 | GO:0050896 | Not Cancer Driver | No | 15 | 0.1 | 1 | 0 | 0.0 | 0 |
PDE6G-201 | PDE6G | P18545 | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | chr17 | GO:0050896 | Not Cancer Driver | No | 9 | 0.1034482758620689 | 58 | 8 | 0.0919540229885057 | 0 |
PDE6H-201 | PDE6H | Q13956 | Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | chr12 | GO:0050896 | Not Cancer Driver | No | 16 | 0.1927710843373494 | 60 | 15 | 0.180722891566265 | 0 |
PPT1-219 | PPT1 | P50897 | Palmitoyl-protein thioesterase 1 | chr1 | GO:0050896 | Not Cancer Driver | No | 27 | 0.088235294117647 | 0 | 0 | 0.0 | 22 |
PRCD-210 | PRCD | Q00LT1 | Photoreceptor disk component PRCD | chr17 | GO:0050896 | Not Cancer Driver | No | 3 | 0.0555555555555555 | 35 | 2 | 0.037037037037037 | 2 |
RAX2-201 | RAX2 | Q96IS3 | Retina and anterior neural fold homeobox protein 2 | chr19 | GO:0050896 | Not Cancer Driver | No | 7 | 0.0380434782608695 | 121 | 2 | 0.0108695652173913 | 2 |
RD3-203 | RD3 | Q7Z3Z2 | Protein RD3 | chr1 | GO:0050896 | Not Cancer Driver | No | 39 | 0.2 | 76 | 20 | 0.1025641025641025 | 0 |
RDH5-201 | RDH5 | Q92781 | Retinol dehydrogenase 5 | chr12 | GO:0050896 | Not Cancer Driver | No | 29 | 0.0911949685534591 | 0 | 0 | 0.0 | 19 |
RDH8-203 | RDH8 | Q9NYR8 | Retinol dehydrogenase 8 | chr19 | GO:0050896 | Not Cancer Driver | No | 65 | 0.2090032154340836 | 3 | 1 | 0.0032154340836012 | 0 |
RIMS1-216 | RIMS1 | Q86UR5 | Regulating synaptic membrane exocytosis protein 1 | chr6 | GO:0050896 | Not Cancer Driver | No | 329 | 0.1944444444444444 | 1318 | 247 | 0.1459810874704491 | 1 |
RLBP1-201 | RLBP1 | P12271 | Retinaldehyde-binding protein 1 | chr15 | GO:0050896 | Not Cancer Driver | No | 45 | 0.1419558359621451 | 72 | 13 | 0.0410094637223974 | 3 |
RPGR-201 | RPGR | Q92834 | X-linked retinitis pigmentosa GTPase regulator | chrX | GO:0050896 | Not Cancer Driver | No | 59 | 0.0578431372549019 | 643 | 29 | 0.0284313725490196 | 20 |
RPGRIP1-202 | RPGRIP1 | Q96KN7 | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 | chr14 | GO:0050896 | Not Cancer Driver | No | 142 | 0.1104199066874028 | 683 | 74 | 0.0575427682737169 | 6 |
SLC24A5-201 | SLC24A5 | Q71RS6 | Sodium/potassium/calcium exchanger 5 | chr15 | GO:0050896 | Not Cancer Driver | No | 51 | 0.102 | 7 | 1 | 0.002 | 0 |
SLC45A2-201 | SLC45A2 | Q9UMX9 | Membrane-associated transporter protein | chr5 | GO:0050896 | Not Cancer Driver | No | 91 | 0.1716981132075471 | 53 | 5 | 0.0094339622641509 | 20 |
SLC8B1-217 | SLC8B1 | Q6J4K2 | Mitochondrial sodium/calcium exchanger protein | chr12 | GO:0050896 | Not Cancer Driver | No | 55 | 0.0941780821917808 | 0 | 0 | 0.0 | 0 |
SPATA7-203 | SPATA7 | Q9P0W8 | Spermatogenesis-associated protein 7 | chr14 | GO:0050896 | Not Cancer Driver | No | 59 | 0.0984974958263772 | 414 | 46 | 0.0767946577629382 | 0 |
TACSTD2-201 | TACSTD2 | P09758 | Tumor-associated calcium signal transducer 2 | chr1 | GO:0050896 | Not Cancer Driver | No | 15 | 0.0464396284829721 | 28 | 1 | 0.0030959752321981 | 0 |
TGFBI-201 | TGFBI | Q15582 | Transforming growth factor-beta-induced protein ig-h3 | chr5 | GO:0050896 | Not Cancer Driver | No | 78 | 0.1142020497803806 | 58 | 13 | 0.0190336749633967 | 21 |
TUB-201 | TUB | P50607 | Tubby protein homolog | chr11 | GO:0050896 | Not Cancer Driver | No | 69 | 0.1363636363636363 | 360 | 43 | 0.0849802371541501 | 0 |
UGT2A1-201 | UGT2A1 | P0DTE4 | UDP-glucuronosyltransferase 2A1 | chr4 | GO:0050896 | Not Cancer Driver | No | 95 | 0.1802656546489563 | 4 | 0 | 0.0 | 0 |
USH2A-201 | USH2A | O75445 | Usherin | chr1 | GO:0050896 | Not Cancer Driver | No | 1235 | 0.2374086889657824 | 780 | 195 | 0.0374855824682814 | 68 |
VSX1-202 | VSX1 | Q9NZR4 | Visual system homeobox 1 | chr20 | GO:0050896 | Not Cancer Driver | No | 21 | 0.0575342465753424 | 269 | 18 | 0.0493150684931506 | 4 |
VSX2-201 | VSX2 | P58304 | Visual system homeobox 2 | chr14 | GO:0050896 | Not Cancer Driver | No | 34 | 0.0941828254847645 | 270 | 18 | 0.0498614958448753 | 4 |
WDR36-203 | WDR36 | Q8NI36 | WD repeat-containing protein 36 | chr5 | GO:0050896 | Not Cancer Driver | No | 82 | 0.0916201117318435 | 89 | 5 | 0.0055865921787709 | 2 |
ZNF513-201 | ZNF513 | Q8N8E2 | Zinc finger protein 513 | chr2 | GO:0050896 | Not Cancer Driver | No | 62 | 0.1146025878003696 | 294 | 40 | 0.0739371534195933 | 1 |