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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