O43186
PR
Gene name |
CRX (CORD2) |
Protein name |
Cone-rod homeobox protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1406 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O43186
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43186-F1 | Predicted | AlphaFoldDB |
348 variants for O43186
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs762715327 RCV001057955 CA9544358 |
3 | A>V | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406628612 RCV001323352 rs1211313175 |
4 | Y>C | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9544366 RCV001345352 rs146240568 |
8 | G>R | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000085993 rs62636512 RCV001073568 |
9 | P>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139340178 RCV000787830 RCV000280624 VAR_076956 RCV000401704 RCV000878021 RCV001087610 CA9544368 |
10 | H>D | Retinitis pigmentosa Cone-rod dystrophy 2 Retinitis pigmentosa (rp) Leber congenital amaurosis 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754630141 CA9544369 RCV001260906 |
10 | H>R | Usher syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002554773 RCV001075819 rs559181643 CA406628824 |
15 | A>P | Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886054544 RCV000341362 CA10652151 RCV000391648 RCV000298080 |
26 | M>I | Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA174095 rs193920917 RCV000149004 |
36 | P>H | Malignant tumor of prostate Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000504788 rs771450991 CA9544402 RCV001857203 |
40 | R>Q | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 7 (lca7) Retinal dystrophy Leber congenital amaurosis 7 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
COSM1394968 RCV001352999 RCV001075179 rs749738655 RCV001071559 CA9544401 |
40 | R>W | Cone-rod dystrophy 2 (cord2) Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 7 (lca7) large_intestine Cone-rod dystrophy 2 Retinal dystrophy Leber congenital amaurosis 7 [Ensembl, NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP |
|
RCV001059718 RCV001075469 VAR_007946 RCV000085990 RCV000007846 CA118791 rs61748436 |
41 | R>Q | Cone-rod dystrophy 2 (cord2) Leber congenital amaurosis 7 (lca7) Variant assessed as Somatic; impact. Cone-rod dystrophy 2 Retinal dystrophy Leber congenital amaurosis 7 RP [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs104894672 CA118790 RCV000007843 RCV001073396 RCV001386169 VAR_003750 RCV000085989 |
41 | R>W | Cone-rod dystrophy 2 (cord2) Leber congenital amaurosis 7 (lca7) Cone-rod dystrophy 2 Retinal dystrophy Leber congenital amaurosis 7 CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs863224863 COSM712137 CA278974 RCV001075515 RCV000197997 RCV002517299 VAR_067189 |
42 | E>K | lung Variant assessed as Somatic; impact. Retinal dystrophy Leber congenital amaurosis 7 LCA7; unknown pathological significance [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001869190 rs1437021651 RCV000787585 CA406629451 |
43 | R>C | Leber congenital amaurosis 7 (lca7) Cone-rod dystrophy Leber congenital amaurosis 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771736389 CA9544404 RCV001544775 RCV001228802 |
43 | R>H | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1437021651 RCV001352222 |
43 | R>S | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1939392843 RCV001198956 |
47 | T>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215027 rs1968116898 |
51 | L>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000085991 RCV001369855 rs61748437 CA227612 |
56 | A>T | Leber congenital amaurosis 7 (lca7) Leber congenital amaurosis 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001250591 rs1968117526 |
64 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs527236062 RCV000132604 CA270027 |
65 | D>H | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000297047 VAR_076957 rs61748438 RCV000085992 CA227614 RCV000990234 RCV000331407 RCV001135902 RCV001128897 RCV001087305 |
66 | V>I | Leber congenital amaurosis 1 Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001074637 CA9544418 RCV002531393 RCV000678552 rs771551785 |
69 | R>C | Retinitis pigmentosa Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001093247 COSM1202336 CA9544419 rs775073228 RCV001238013 |
69 | R>H | Leber congenital amaurosis 7 (lca7) large_intestine Leber congenital amaurosis 7 [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_003751 RCV001386170 RCV000007841 CA118789 rs104894671 RCV000085995 |
80 | E>A | Cone-rod dystrophy 2 (cord2) Cone-rod dystrophy 2 Leber congenital amaurosis 7 CORD2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104894671 RCV001073303 |
80 | E>G | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000085994 rs62654391 CA227617 RCV001854500 RCV001003002 |
80 | E>K | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1968160766 RCV001223743 |
86 | W>C | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207853 rs1968160841 |
87 | F>* | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968160874 RCV001342164 |
88 | K>E | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_063919 | 88 | K>N | LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm [UniProt] | Yes | UniProt |
|
RCV001320521 rs1001151383 RCV001532383 CA309212205 RCV001587340 |
88 | K>R | Retinitis pigmentosa Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1209634994 RCV001853674 CA406630283 RCV000520899 |
90 | R>Q | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000086364 rs104894673 RCV001244346 RCV001074643 COSM1681166 VAR_008714 CA118792 RCV000007847 |
90 | R>W | kidney Leber congenital amaurosis 7 (lca7) Retinal dystrophy Leber congenital amaurosis 7 LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA236030 rs786205521 RCV000171286 RCV001342675 RCV001257853 |
92 | A>T | Autosomal dominant retinitis pigmentosa Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751018117 CA406630343 RCV001879957 RCV001256189 |
98 | R>* | Retinitis pigmentosa Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074883 rs1968162133 |
105 | Q>* | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338120 rs1968162287 |
108 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860176 RCV000591774 CA9544469 rs760741667 |
111 | Q>R | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857421 CA227621 RCV000085998 rs61748439 |
112 | A>V | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750727986 VAR_076958 RCV001222808 CA9544473 |
115 | R>Q | Leber congenital amaurosis 7 RP; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001226434 rs1056691132 CA309212328 |
115 | R>W | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000373510 rs61748441 CA179944 RCV001082272 VAR_008282 RCV000286039 RCV000153123 RCV001258249 RCV000339186 RCV000086000 |
122 | G>D | Cone-rod dystrophy 2 (cord2) Retinitis pigmentosa Leber congenital amaurosis 7 (lca7) Cone-rod dystrophy 2 Central core myopathy Retinitis pigmentosa (rp) Leber congenital amaurosis 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9544476 rs755554804 RCV002066221 |
123 | T>A | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001075650 CA406630523 rs1311901864 |
126 | R>S | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1599991268 RCV000787586 |
128 | S>missing | Stargardt disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968164288 RCV001131567 RCV001131566 RCV001131565 |
134 | D>N | Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064797246 RCV000488002 RCV001202810 |
135 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211671 rs1968164438 |
140 | D>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968164899 RCV001341159 |
142 | Y>* | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61748442 RCV001131569 RCV001257854 RCV000787829 RCV000990235 RCV001131568 RCV001089193 CA227624 RCV000086001 |
142 | Y>C | Autosomal dominant retinitis pigmentosa Leber congenital amaurosis 1 Retinitis pigmentosa Cone-rod dystrophy 2 Retinitis pigmentosa (rp) Leber congenital amaurosis 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001075115 rs1968165008 |
144 | P>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205889 rs149300196 CA9544490 |
145 | P>S | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001379448 rs1968165080 RCV001073950 |
146 | L>missing | Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228949 rs1968165217 |
146 | L>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_007947 | 146 | L>del | LCA7 [UniProt] | Yes | UniProt |
|
rs1968165374 RCV001262103 |
148 | G>missing | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086003 RCV001247677 rs61748444 |
150 | S>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555801989 RCV000504684 |
150 | S>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864309706 RCV001208760 RCV000203264 CA339650 |
150 | S>* | Leber congenital amaurosis 7 (lca7) Benign concentric annular macular dystrophy Leber congenital amaurosis 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1968165665 RCV001250659 |
151 | G>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250660 rs1968165787 |
153 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558276 VAR_067190 RCV001131570 CA9544496 RCV001131571 rs763651232 RCV001132600 |
154 | T>A | Retinitis pigmentosa Leber congenital amaurosis 7 (lca7) Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002553971 rs753466818 RCV001065192 CA9544497 |
155 | T>M | Inborn genetic diseases Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000308806 rs61748445 VAR_007948 RCV000347317 RCV001081848 CA202718 RCV002498461 RCV000086004 RCV000178122 RCV000390414 |
158 | A>T | Cone-rod dystrophy 2 (cord2) Retinitis pigmentosa Leber congenital amaurosis 7 (lca7) Cone-rod dystrophy 2 Leber congenital amaurosis 7 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990236 rs1599991538 |
161 | S>missing | Leber congenital amaurosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318075 CA9544499 rs745628043 |
162 | I>T | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1968166379 RCV001250583 |
163 | W>* | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9544501 RCV002285462 RCV001242594 rs779912365 |
163 | W>R | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002555842 RCV001065467 rs1039194669 CA309212582 |
164 | S>N | Inborn genetic diseases Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1599991611 RCV000990237 RCV001233804 |
166 | A>* | Leber congenital amaurosis 1 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086005 RCV002274927 rs61748446 |
168 | E>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568626209 RCV000007842 |
168 | E>missing | Cone-rod dystrophy 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968166909 RCV001250584 RCV001879781 |
171 | L>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007848 rs281865515 RCV000086007 |
174 | A>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968167093 RCV002570426 RCV002287485 RCV001250585 |
175 | Q>* | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055824 RCV000086008 rs61748449 RCV002515745 |
177 | A>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968167603 RCV001250586 |
184 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1394970 RCV000369179 CA9544514 RCV000307457 RCV000615113 RCV000402156 rs147558800 RCV000955564 |
184 | P>L | Retinitis pigmentosa large_intestine Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568626289 RCV000735752 |
189 | A>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142111462 RCV002556891 RCV001135987 RCV001135988 RCV001135986 RCV001349508 |
189 | A>P | Retinitis pigmentosa Cone-rod dystrophy 2 Inborn genetic diseases Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086011 RCV001857422 rs61748452 |
191 | Y>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250587 rs1968168564 |
191 | Y>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9544523 rs774657041 RCV001213857 |
194 | T>N | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373497612 RCV001250588 |
195 | Y>* | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968169004 RCV001075865 |
196 | A>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002466710 RCV001925009 rs1968169100 |
197 | P>missing | Stargardt disease Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002563962 CA9544527 rs761290111 RCV001239949 |
197 | P>L | Variant assessed as Somatic; 4.713e-05 impact. Inborn genetic diseases Leber congenital amaurosis 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1968169272 RCV001347754 |
198 | A>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776232503 RCV001343143 CA9544529 |
198 | A>V | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1968169319 RCV001040835 RCV001073684 |
199 | S>missing | Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036303 RCV000225573 rs878853383 |
202 | C>missing | Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854501 rs281865516 RCV000007849 RCV000086015 |
206 | S>missing | Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1193377720 RCV001129009 RCV001129008 RCV001129010 CA406631276 |
206 | S>P | Retinitis pigmentosa Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001074100 rs1968170098 |
208 | Y>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324861 rs1968170166 |
209 | G>E | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000210309 rs869312175 |
216 | S>missing | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281865517 RCV000086016 RCV002274928 |
217 | G>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203269 RCV002517362 RCV001312312 rs864309707 |
221 | Y>missing | Benign concentric annular macular dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864309708 RCV001361118 RCV000203272 |
221 | Y>missing | Benign concentric annular macular dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064797247 RCV001865500 COSM368705 CA16621743 RCV001073867 RCV000487650 |
221 | Y>* | lung Leber congenital amaurosis 7 (lca7) Retinal dystrophy Leber congenital amaurosis 7 [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs756105390 RCV002536890 CA9544556 RCV000787587 |
228 | Q>H | Retinitis pigmentosa Retinitis pigmentosa (rp) Leber congenital amaurosis 7 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1968171338 RCV001862603 RCV001075242 |
229 | L>I | Retinal dystrophy Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257855 RCV001250589 rs786205630 RCV000171490 |
232 | P>missing | Autosomal dominant retinitis pigmentosa Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341176 rs1968172066 |
238 | S>Y | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990238 VAR_007949 RCV000086018 CA227644 RCV002505020 RCV001081597 RCV000597336 COSM243854 rs61748459 |
242 | V>M | Leber congenital amaurosis 1 Retinitis pigmentosa prostate Leber congenital amaurosis 7 CORD2 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300693 rs1968172289 |
244 | P>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406631694 rs1196719242 RCV001309174 |
247 | A>V | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001307244 RCV000086019 rs61749660 |
252 | S>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968173024 RCV002249668 RCV001067544 |
256 | Q>* | Cone-rod dystrophy 2 Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1968173864 RCV001250590 |
273 | T>missing | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241022 CA227647 RCV000086021 rs281865203 |
273 | T>M | Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406631879 rs1599992622 RCV000787588 |
276 | W>* | Stargardt disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000380030 rs886054547 CA10652152 RCV002521241 RCV000323112 RCV002521240 RCV000260824 |
286 | L>P | Retinitis pigmentosa Cone-rod dystrophy 2 Inborn genetic diseases Leber congenital amaurosis 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001074125 rs1968174829 |
291 | Q>H | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132605 rs527236063 CA270029 |
299 | L>F | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001029942 rs1599992745 CA406632165 |
300 | L>Q | Cone-rod dystrophy 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406628587 rs1229606751 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs150122798 CA9544360 |
4 | Y>H | No |
ClinGen ESP ExAC |
|
|
rs776868419 CA9544362 |
5 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458143033 CA406628656 |
5 | M>T | No |
ClinGen gnomAD |
|
|
rs145337312 CA9544361 |
5 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230960052 CA406628694 |
6 | N>S | No |
ClinGen gnomAD |
|
|
CA9544364 rs558522333 |
7 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9544363 rs762329875 |
7 | P>T | No |
ClinGen ExAC |
|
|
rs766003111 CA9544367 |
9 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs754630141 CA406628769 |
10 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9544370 rs767285003 |
12 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9544372 rs756039866 |
13 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9544371 rs752458888 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774344094 CA9544375 |
14 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9544373 rs777613986 |
14 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406628831 rs1318083411 |
15 | A>D | No |
ClinGen gnomAD |
|
|
CA9544376 rs559181643 |
15 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 21 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210601065 CA406629014 |
25 | L>M | No |
ClinGen gnomAD |
|
|
rs1236725891 CA406629023 |
25 | L>P | No |
ClinGen gnomAD |
|
|
CA9544380 rs781577708 |
28 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190997138 CA406629104 |
29 | A>V | No |
ClinGen TOPMed |
|
|
CA406629121 rs1453222875 |
31 | P>T | No |
ClinGen TOPMed |
|
|
rs748529936 CA9544398 |
34 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs139778328 CA406629361 |
34 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1360808512 CA406629369 |
35 | A>D | No |
ClinGen gnomAD |
|
|
CA9544400 rs778203784 |
35 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759088105 CA9544403 |
42 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9544406 rs760519102 |
44 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406629500 rs1203670123 |
47 | T>I | No |
ClinGen gnomAD |
|
|
rs765302774 CA406629505 |
48 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9544410 rs765302774 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9544409 rs761797993 |
48 | R>W | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 7 (lca7) [NCI-TCGA, Ensembl] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751665561 CA9544411 |
49 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755068966 CA9544412 |
50 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309209094 rs967929101 |
53 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406629582 rs1452594516 |
55 | E>G | No |
ClinGen gnomAD |
|
|
RCV000627476 rs1555801777 |
56 | A>missing | No |
ClinVar dbSNP |
|
|
rs756371710 CA9544414 |
58 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1405463340 CA406629621 |
59 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1405463340 CA406629619 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9544415 rs370973957 |
60 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1599985527 CA406629648 |
61 | T>I | No |
ClinGen Ensembl |
|
|
CA309209110 rs759987549 |
63 | Y>D | No |
ClinGen Ensembl |
|
|
CA406629673 rs1368658678 |
64 | P>A | No |
ClinGen gnomAD |
|
|
rs1368658678 CA406629671 |
64 | P>T | No |
ClinGen gnomAD |
|
|
CA9544417 rs145649717 |
68 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9544420 rs746588900 |
70 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206525536 CA406629740 |
71 | E>K | No |
ClinGen TOPMed |
|
|
CA9544422 rs776533441 |
72 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1568624864 CA406629793 |
75 | K>N | No |
ClinGen Ensembl |
|
|
rs1237040876 CA406629849 |
81 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs567952341 CA9544450 |
86 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599990781 CA406630276 |
89 | N>T | No |
ClinGen Ensembl |
|
|
CA9544452 rs750825795 |
92 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260495425 CA406630305 |
93 | K>E | No |
ClinGen gnomAD |
|
|
rs780656368 CA9544454 |
94 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA9544458 rs372219374 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA406630348 RCV000505016 rs1555801963 |
99 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 99 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171963902 CA406630356 |
100 | Q>* | No |
ClinGen gnomAD |
|
|
CA9544461 rs780853289 |
103 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367279087 CA406630390 |
104 | Q>H | No |
ClinGen TOPMed |
|
|
CA9544463 rs769592519 |
104 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568626010 CA406630404 |
106 | Q>R | No |
ClinGen Ensembl |
|
|
rs749148264 CA9544465 |
107 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770752727 CA406630410 |
107 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770752727 CA9544466 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568626020 CA406630414 |
108 | P>S | No |
ClinGen Ensembl |
|
|
rs1216141985 CA406630422 |
109 | G>A | No |
ClinGen gnomAD |
|
|
rs1170841415 CA406630420 |
109 | G>R | No |
ClinGen TOPMed |
|
|
rs61748439 CA9544470 |
112 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309890746 CA406630439 |
112 | A>P | No |
ClinGen gnomAD |
|
|
CA406630456 rs750727986 |
115 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599991109 CA406630466 |
117 | A>T | No |
ClinGen Ensembl |
|
|
rs61748440 RCV000085999 |
118 | K>missing | No |
ClinVar dbSNP |
|
|
rs1266328918 CA406630477 |
118 | K>N | No |
ClinGen TOPMed |
|
|
rs763430802 CA9544474 |
119 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763430802 CA406630481 |
119 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM998815 rs371847743 CA9544475 |
121 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406630500 rs61748441 |
122 | G>A | Cone-rod dystrophy 2 (cord2) Leber congenital amaurosis 7 (lca7) Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9544477 rs201969424 |
123 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1599991237 CA406630514 |
125 | P>S | No |
ClinGen Ensembl |
|
|
CA406630520 rs1299569341 |
126 | R>K | No |
ClinGen TOPMed |
|
|
RCV001093248 rs1968163788 |
127 | P>H | No |
ClinVar dbSNP |
|
|
rs777532293 CA9544480 |
127 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9544482 rs770828657 |
128 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1223082776 CA406630540 |
129 | T>I | No |
ClinGen gnomAD |
|
|
CA9544484 rs745750959 |
130 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467964146 CA406630564 |
133 | P>S | No |
ClinGen gnomAD |
|
|
CA309212394 rs926545617 |
134 | D>E | No |
ClinGen Ensembl |
|
|
CA309212396 rs572439956 |
135 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs572439956 CA10605693 RCV000266571 |
135 | P>T | No |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
|
CA9544488 rs769891038 |
138 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9544487 rs373934471 |
138 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9544489 rs373281561 |
139 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764073868 CA309212504 |
140 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
VAR_036438 CA406630618 COSM33441 rs1165723137 |
141 | S>F | Variant assessed as Somatic; 0.0 impact. breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
rs1599991412 CA406630636 |
143 | S>N | No |
ClinGen Ensembl |
|
|
RCV000086002 rs281865202 |
146 | L>missing | No |
ClinVar dbSNP |
|
|
CA406630669 rs1173779531 |
147 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9544493 rs760080266 |
148 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9544492 rs760080266 |
148 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568626126 CA406630676 |
148 | G>V | No |
ClinGen Ensembl |
|
|
rs1296846737 CA406630684 |
149 | P>S | No |
ClinGen gnomAD |
|
|
rs886044121 RCV000353578 |
150 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 151 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9544494 rs752233438 |
151 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599991507 CA406630732 |
154 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778724958 CA9544498 |
161 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1254761879 CA406630802 |
162 | I>F | No |
ClinGen TOPMed |
|
|
rs745628043 CA406630803 |
162 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs779912365 CA406630812 |
163 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406630843 rs1374032062 |
165 | P>L | No |
ClinGen TOPMed |
|
|
rs1189004931 CA406630849 |
166 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA309212584 rs988096506 |
166 | A>P | No |
ClinGen TOPMed |
|
|
RCV001268634 rs1968166700 |
168 | E>missing | No |
ClinVar dbSNP |
|
|
rs61748447 RCV000086006 |
169 | S>missing | No |
ClinVar dbSNP |
|
|
rs769984810 CA9544503 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9544504 rs773154643 |
171 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749575525 CA9544505 |
172 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9544506 rs771028537 |
174 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9544510 rs543243551 |
176 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406630961 rs1313125094 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9544509 rs543243551 |
176 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309212700 rs926713896 |
178 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9544511 rs369142479 |
178 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406631012 rs1254748729 |
180 | V>E | No |
ClinGen TOPMed |
|
|
RCV000086009 rs61748450 |
181 | A>missing | No |
ClinVar dbSNP |
|
|
CA406631017 rs1213974219 |
181 | A>S | No |
ClinGen gnomAD |
|
|
CA406631062 rs1484711166 |
185 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758125850 CA9544516 |
187 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599991797 CA406631072 |
187 | T>P | No |
ClinGen Ensembl |
|
|
rs142111462 CA406631088 |
189 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142111462 COSM712135 CA9544518 |
189 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9544519 rs754851169 |
189 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs151169551 CA9544520 RCV000658253 |
190 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9544521 rs749287257 |
192 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9544522 rs771206912 |
193 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs774657041 CA9544524 |
194 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000086013 rs61748454 |
196 | A>missing | No |
ClinVar dbSNP |
|
|
rs61748453 RCV000086012 |
196 | A>missing | No |
ClinVar dbSNP |
|
|
CA406631173 rs1372852556 |
196 | A>D | No |
ClinGen gnomAD |
|
|
CA309212788 rs1038108316 |
196 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1372852556 CA406631175 |
196 | A>V | No |
ClinGen gnomAD |
|
|
rs761290111 CA309212794 |
197 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776232503 CA406631189 |
198 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309212824 rs973897588 |
198 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1284959772 COSM3823518 CA406631200 |
200 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 202 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1751023 CA406631253 rs1366724943 |
203 | S>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1191600890 CA406631257 |
204 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9544534 rs751282380 COSM712134 |
206 | S>F | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9544536 rs376982187 |
207 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA309212845 rs992086011 |
209 | G>R | No |
ClinGen Ensembl |
|
|
rs559042370 CA9544537 COSM243853 |
211 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9544539 rs779129827 |
213 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA309212852 rs945404549 |
214 | Y>H | No |
ClinGen Ensembl |
|
|
rs1210026946 COSM998817 CA406631374 |
215 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 216 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9544542 COSM3422958 rs146869548 |
217 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9544544 rs769225000 |
219 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9544545 rs776939977 |
220 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769355351 CA9544547 COSM439883 |
222 | L>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9544548 rs772689018 |
222 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9544551 rs751392467 |
225 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs765976845 CA9544550 |
225 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406631513 rs1251453488 |
225 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765976845 CA309212970 |
225 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183477519 CA406631519 COSM439884 |
226 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1353839066 CA406631530 |
227 | P>T | No |
ClinGen gnomAD |
|
|
COSM354011 CA9544557 rs750495745 |
229 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1461832129 CA406631565 |
230 | G>R | No |
ClinGen gnomAD |
|
|
rs758720802 CA9544558 |
231 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9544560 rs567851258 |
232 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169097131 CA406631616 |
235 | S>N | No |
ClinGen TOPMed |
|
|
CA9544561 rs768972244 |
236 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs281865518 RCV000086017 |
237 | L>missing | No |
ClinVar dbSNP |
|
|
CA406631634 rs900654983 |
237 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs900654983 CA406631633 |
237 | L>I | No |
ClinGen TOPMed gnomAD |
|
| rs281865518 | 237 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900654983 CA309213014 |
237 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406631647 rs1568626440 |
239 | G>D | No |
ClinGen Ensembl |
|
|
rs781610314 CA9544562 |
240 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 241 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406631666 rs1481802456 |
243 | G>R | No |
ClinGen gnomAD |
|
|
RCV000521258 CA406631679 rs1555802042 |
245 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA406631708 rs1250320962 |
249 | S>F | No |
ClinGen gnomAD |
|
|
CA406631704 rs1257372366 |
249 | S>P | No |
ClinGen TOPMed |
|
|
CA309213086 rs1052016718 |
251 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 254 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9544566 rs770584409 |
254 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9544568 rs759221805 |
256 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775331194 CA9544570 |
259 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs370592248 CA9544572 COSM297562 |
260 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 260 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193965588 CA406631779 |
261 | Y>C | No |
ClinGen gnomAD |
|
|
CA309213111 rs932360918 |
262 | S>G | No |
ClinGen TOPMed |
|
|
rs281865519 RCV000086020 |
264 | V>missing | No |
ClinVar dbSNP |
|
|
CA9544574 rs138146799 |
264 | V>M | Leber congenital amaurosis 7 (lca7) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751790087 CA9544576 |
265 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1309761683 CA406631838 |
269 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406631852 rs1251039837 |
271 | D>E | No |
ClinGen gnomAD |
|
|
CA9544577 rs755208952 |
271 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781453718 CA9544578 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781453718 CA406631854 |
272 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1485816651 CA406631871 |
275 | T>A | No |
ClinGen gnomAD |
|
|
rs1186575304 CA406631875 |
275 | T>I | No |
ClinGen gnomAD |
|
|
rs1485816651 CA406631870 |
275 | T>S | No |
ClinGen gnomAD |
|
|
rs770494420 CA9544582 |
278 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9544583 rs773897663 |
279 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1426471689 CA406631905 |
280 | Y>N | No |
ClinGen TOPMed |
|
|
CA9544584 rs745553387 |
282 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA406631927 rs1175719007 |
283 | M>L | No |
ClinGen gnomAD |
|
|
CA406631931 rs1376261810 |
283 | M>R | No |
ClinGen gnomAD |
|
|
rs1555802058 RCV000593482 |
286 | L>missing | No |
ClinVar dbSNP |
|
|
rs995204794 CA309213175 |
289 | K>N | No |
ClinGen Ensembl |
|
|
CA406631989 rs1375628383 |
289 | K>R | No |
ClinGen TOPMed |
|
|
rs760493282 CA9544587 |
297 | Q>E | No |
ClinGen ExAC gnomAD |
3 associated diseases with O43186
[MIM: 613829]: Leber congenital amaurosis 7 (LCA7)
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:20513135, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:9792858, ECO:0000269|PubMed:9931337}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 120970]: Cone-rod dystrophy 2 (CORD2)
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:9390563, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 268000]: Retinitis pigmentosa (RP)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11139241, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:20513135, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:9792858, ECO:0000269|PubMed:9931337}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:9390563, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11139241, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for O43186
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Helix-turn-helix motif | 150 - 175 | IPR000047 |
| domain | Homeobox domain | 44 - 109 | IPR001356-1 |
| domain | Homeobox domain | 119 - 183 | IPR001356-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| leucine zipper domain binding | Binding to a leucine zipper domain, a protein secondary structure exhibiting a periodic repetition of leucine residues at every seventh position over a distance covering eight helical turns. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XSK0 | CRX | Cone-rod homeobox protein | Bos taurus (Bovine) | PR |
| Q8SQ03 | CRX | Cone-rod homeobox protein | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P32243 | OTX2 | Homeobox protein OTX2 | Homo sapiens (Human) | PR |
| P80206 | Otx2 | Homeobox protein OTX2 | Mus musculus (Mouse) | PR |
| O54751 | Crx | Cone-rod homeobox protein | Mus musculus (Mouse) | PR |
| Q6H6S3 | HOX24 | Homeobox-leucine zipper protein HOX24 | Oryza sativa subsp japonica (Rice) | PR |
| Q7XUJ5 | HOX22 | Homeobox-leucine zipper protein HOX22 | Oryza sativa subsp japonica (Rice) | PR |
| A3BYC1 | HOX25 | Homeobox-leucine zipper protein HOX25 | Oryza sativa subsp japonica (Rice) | PR |
| Q9M276 | ATHB-12 | Homeobox-leucine zipper protein ATHB-12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q28FN6 | otx2 | Homeobox protein OTX2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q91994 | otx1b | Homeobox protein OTX1 B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMAYMNPGPH | YSVNALALSG | PSVDLMHQAV | PYPSAPRKQR | RERTTFTRSQ | LEELEALFAK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TQYPDVYARE | EVALKINLPE | SRVQVWFKNR | RAKCRQQRQQ | QKQQQQPPGG | QAKARPAKRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGTSPRPSTD | VCPDPLGISD | SYSPPLPGPS | GSPTTAVATV | SIWSPASESP | LPEAQRAGLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ASGPSLTSAP | YAMTYAPASA | FCSSPSAYGS | PSSYFSGLDP | YLSPMVPQLG | GPALSPLSGP |
| 250 | 260 | 270 | 280 | 290 | |
| SVGPSLAQSP | TSLSGQSYGA | YSPVDSLEFK | DPTGTWKFTY | NPMDPLDYKD | QSAWKFQIL |