Q9UQ03
PR
Gene name |
CORO2B (KIAA0925) |
Protein name |
Coronin-2B |
Names |
Coronin-like protein C, Clipin-C, Protein FC96 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10391 |
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 Q9UQ03
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UQ03-F1 | Predicted | AlphaFoldDB |
337 variants for Q9UQ03
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003210171 rs267604301 CA272494423 |
359 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433902479 CA393213881 |
2 | T>I | No |
ClinGen TOPMed |
|
|
CA393213898 rs1351079320 |
4 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1323675916 CA393213904 |
4 | T>I | No |
ClinGen TOPMed |
|
|
rs1406406189 CA393213907 |
5 | K>E | No |
ClinGen TOPMed |
|
|
CA392989504 rs1265768158 |
6 | M>I | No |
ClinGen gnomAD |
|
|
CA7632371 rs777240660 |
9 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370083446 CA7632372 |
9 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777240660 CA392989520 |
9 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs371239183 CA7632373 |
10 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419556756 CA392989531 |
11 | Q>* | No |
ClinGen gnomAD |
|
|
CA7632376 rs766445795 |
11 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7632378 rs766059041 |
13 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767471997 CA7632379 |
13 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632380 rs767471997 |
13 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756020831 CA7632381 |
14 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272478759 rs946241969 |
18 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7632383 rs753567077 |
19 | N>S | No |
ClinGen ExAC |
|
|
rs1456329807 CA392989629 |
20 | V>I | No |
ClinGen Ensembl |
|
|
rs778385207 CA7632385 |
25 | A>T | No |
ClinGen ExAC |
|
|
CA392989711 rs1423882581 |
26 | N>S | No |
ClinGen TOPMed |
|
|
CA392989720 rs1186418952 |
27 | R>Q | No |
ClinGen TOPMed |
|
|
CA7632388 rs779692073 |
32 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771751077 CA7632387 |
32 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392989786 rs1306703881 |
32 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1295214701 CA392989826 |
35 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392989885 rs1320090184 |
39 | N>S | No |
ClinGen gnomAD |
|
|
rs773632149 CA7632391 |
42 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763171277 CA7632392 |
43 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs771205020 CA7632393 |
46 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7632394 rs574023568 |
47 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767629491 CA7632396 |
48 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144695697 CA7632400 |
51 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753693651 CA7632401 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756964492 CA7632402 |
55 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs147484943 CA7632404 |
56 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1377021598 CA392990126 |
58 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 60 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140464148 CA7632406 |
60 | A>T | Variant assessed as Somatic; 0.001004 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1309493364 CA392990164 |
60 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 63 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392990190 rs1410563970 |
63 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756704125 CA7632408 |
64 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA392990216 rs1341326288 |
65 | F>Y | No |
ClinGen gnomAD |
|
|
rs749693049 CA7632410 |
67 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392990244 rs1180844667 |
69 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392990258 rs528673262 |
71 | E>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA272478903 rs528673262 |
71 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1450958075 CA392990255 |
71 | E>K | No |
ClinGen gnomAD |
|
|
CA392990265 rs1389979477 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
CA392989244 rs1206343911 |
76 | I>T | No |
ClinGen gnomAD |
|
|
rs757765564 CA7632433 |
77 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273892968 CA392989254 |
78 | P>T | No |
ClinGen gnomAD |
|
|
rs1245380018 CA392989267 |
79 | N>K | No |
ClinGen gnomAD |
|
|
rs1224180923 CA392989263 |
79 | N>S | No |
ClinGen gnomAD |
|
|
CA7632435 rs746161427 |
82 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772291433 CA7632436 |
83 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA392989295 rs1471650274 |
84 | C>R | No |
ClinGen gnomAD |
|
|
CA392989302 rs1464771455 |
85 | G>S | No |
ClinGen TOPMed |
|
|
rs1596020572 CA392989320 |
87 | Q>R | No |
ClinGen Ensembl |
|
|
CA392989328 rs747203345 |
88 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747203345 CA7632438 |
88 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA392989329 rs1361113950 |
89 | N>H | No |
ClinGen TOPMed |
|
|
rs151208228 CA7632439 |
90 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776762543 CA7632440 |
94 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761723811 CA7632441 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1308545156 CA392989388 |
97 | P>S | No |
ClinGen gnomAD |
|
|
CA272481129 rs921792414 |
98 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392989405 rs1472311449 |
100 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs930434984 CA272481133 |
101 | N>S | No |
ClinGen Ensembl |
|
|
CA7632442 rs748810483 |
102 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392989427 rs1287187921 |
103 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1356568569 CA392989435 |
104 | A>S | No |
ClinGen gnomAD |
|
|
CA7632445 rs766159237 |
108 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751295241 CA7632446 |
110 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs907182514 | 111 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149965980 CA7632447 |
111 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7632467 rs752158574 |
113 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1435401613 CA392989576 |
113 | R>W | No |
ClinGen gnomAD |
|
|
rs760180049 CA7632468 |
115 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA392989650 rs763566862 |
118 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632469 rs763566862 |
118 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7632471 rs758897752 |
119 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278028261 CA392989673 |
120 | G>D | No |
ClinGen gnomAD |
|
|
CA392989669 rs1160224442 |
120 | G>R | No |
ClinGen TOPMed |
|
|
rs1412173142 CA392989682 CA392989680 |
121 | G>R | No |
ClinGen TOPMed |
|
|
CA392989717 rs535068266 |
124 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7632474 rs755169184 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632473 rs535068266 |
124 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs781428472 CA7632475 |
125 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs748209677 CA7632476 |
126 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529559150 CA7632477 |
127 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144874326 CA7632478 |
127 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457356153 CA392989792 |
129 | A>G | No |
ClinGen gnomAD |
|
|
rs1400832819 CA392989785 |
129 | A>T | No |
ClinGen gnomAD |
|
|
rs1457356153 CA392989794 |
129 | A>V | No |
ClinGen gnomAD |
|
|
rs997136790 CA272490875 |
132 | E>K | No |
ClinGen TOPMed |
|
|
CA7632482 rs370887038 |
134 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302425549 CA392989860 |
135 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA392989903 rs1274829318 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771643596 CA7632483 |
138 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs775165158 CA392989916 |
139 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7632484 rs775165158 |
139 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775165158 CA392989918 |
139 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373966319 CA272490883 |
141 | G>R | No |
ClinGen ESP |
|
|
CA7632485 rs760225918 |
143 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA392989961 rs760225918 |
143 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7632487 rs776119415 |
144 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1596032453 CA392989980 |
145 | W>G | No |
ClinGen Ensembl |
|
|
CA392990001 rs1596032458 |
146 | H>P | No |
ClinGen Ensembl |
|
|
CA392990031 rs1196634495 |
148 | T>I | No |
ClinGen gnomAD |
|
|
CA392990022 rs1596032482 |
148 | T>P | No |
ClinGen Ensembl |
|
|
CA7632488 rs577805684 |
150 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392990087 rs1409234484 |
153 | L>M | No |
ClinGen gnomAD |
|
|
rs1456395802 CA392990098 |
154 | F>L | No |
ClinGen gnomAD |
|
|
CA7632491 rs543637910 |
156 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA272490909 rs543637910 |
156 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA392990137 rs1323477089 |
157 | G>S | No |
ClinGen gnomAD |
|
|
CA392990168 rs1230243277 |
159 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1230243277 CA392990166 |
159 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA392990182 rs1286556773 |
160 | Y>D | No |
ClinGen gnomAD |
|
|
rs757369382 CA392990282 |
162 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs757369382 CA7632514 |
162 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1365648561 CA392990316 |
166 | N>K | No |
ClinGen gnomAD |
|
|
CA392990318 rs1596033160 |
167 | L>V | No |
ClinGen Ensembl |
|
|
CA7632515 rs778824885 |
168 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA392990328 rs1306864139 |
168 | D>E | No |
ClinGen gnomAD |
|
|
rs1018692431 CA272491319 |
169 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1210149937 CA392990353 |
172 | P>L | No |
ClinGen gnomAD |
|
|
CA392990351 rs1210149937 |
172 | P>Q | No |
ClinGen gnomAD |
|
|
rs779907122 CA272491325 |
180 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779907122 CA7632518 |
180 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187072658 CA392990412 |
181 | D>N | No |
ClinGen gnomAD |
|
|
CA392990424 rs1178953401 |
182 | V>A | No |
ClinGen TOPMed |
|
|
CA392990430 rs1419354649 |
183 | I>T | No |
ClinGen gnomAD |
|
|
rs768320498 CA7632520 |
185 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1417705876 CA392990452 |
186 | M>I | No |
ClinGen TOPMed |
|
|
CA392990449 rs1178272374 |
186 | M>T | No |
ClinGen gnomAD |
|
|
CA392990475 rs1469396130 |
189 | N>K | No |
ClinGen gnomAD |
|
|
rs529856440 CA7632522 |
190 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392990493 rs1268225858 |
192 | G>D | No |
ClinGen gnomAD |
|
|
rs1181252401 CA392990490 |
192 | G>S | No |
ClinGen TOPMed |
|
|
rs138122643 CA7632526 |
194 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7632528 rs761068115 |
196 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392990522 rs1268294926 |
197 | T>N | No |
ClinGen gnomAD |
|
|
rs560233315 CA7632530 |
198 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560233315 CA7632531 |
198 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 201 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489032579 CA392990546 |
201 | D>H | No |
ClinGen gnomAD |
|
|
rs758374401 CA7632534 |
205 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs192155851 CA272491374 |
205 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA272491387 rs926965860 |
210 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA392990618 rs1414406301 |
212 | G>C | No |
ClinGen gnomAD |
|
|
rs754809675 CA7632537 |
213 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA392990624 rs1317954287 |
213 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 215 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046692734 CA272492363 |
217 | E>A | No |
ClinGen TOPMed |
|
|
CA7632547 rs539164836 |
219 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392990681 rs1596034758 |
220 | C>Y | No |
ClinGen Ensembl |
|
|
CA392990699 rs1412962335 |
222 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272492371 rs932408551 |
222 | N>T | No |
ClinGen Ensembl |
|
|
CA272492376 rs1048141586 |
223 | H>N | No |
ClinGen Ensembl |
|
|
rs144987289 CA272492383 |
227 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA392990730 rs1405670533 |
227 | R>W | No |
ClinGen gnomAD |
|
|
CA392990773 rs1404291083 |
234 | M>V | No |
ClinGen gnomAD |
|
|
CA7632549 rs553808342 |
236 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036695628 CA272492390 |
236 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 237 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272492402 VAR_058323 rs17852400 |
238 | L>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7632552 rs766452912 |
239 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7632554 rs754897969 |
242 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1596034844 CA392990824 |
242 | V>G | No |
ClinGen Ensembl |
|
|
CA392990840 rs1596034849 |
245 | W>G | No |
ClinGen Ensembl |
|
|
rs781030685 CA7632555 |
248 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs752421094 CA7632556 |
249 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA272492418 rs939244449 |
250 | I>T | No |
ClinGen Ensembl |
|
|
rs755804205 CA7632557 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1245569872 CA392990900 |
254 | D>N | No |
ClinGen TOPMed |
|
|
CA7632580 rs143760855 |
257 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA272492757 rs908456925 |
259 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7632582 rs748662371 |
260 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA392990979 rs372424321 |
263 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221832244 CA392990982 |
264 | E>K | No |
ClinGen gnomAD |
|
|
CA392990989 rs1262672268 |
265 | E>Q | No |
ClinGen gnomAD |
|
|
CA7632584 rs773615801 |
269 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7632585 rs374424833 |
270 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920947018 CA272492803 |
277 | F>L | No |
ClinGen TOPMed |
|
|
CA392991102 rs1463852142 |
281 | D>E | No |
ClinGen TOPMed |
|
|
rs1422715772 CA392991123 |
284 | M>I | No |
ClinGen TOPMed |
|
|
CA392991128 rs1171259775 |
285 | L>F | No |
ClinGen TOPMed |
|
|
CA392991127 rs1171259775 |
285 | L>V | No |
ClinGen TOPMed |
|
|
rs765094121 CA7632614 |
296 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1291015819 CA392991212 |
296 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392991219 rs1331128787 |
297 | Y>C | No |
ClinGen TOPMed |
|
|
rs762684527 CA7632616 |
299 | E>D | No |
ClinGen ExAC |
|
|
rs1418170409 CA392991231 |
299 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1567018941 CA392991244 |
300 | I>M | No |
ClinGen Ensembl |
|
|
CA392991242 rs1187866784 |
300 | I>T | No |
ClinGen gnomAD |
|
|
rs1387448540 CA392991245 |
301 | S>G | No |
ClinGen gnomAD |
|
|
rs1422281890 CA392991249 |
301 | S>T | No |
ClinGen TOPMed |
|
|
CA7632618 rs751017249 |
303 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1431645483 CA392991271 |
304 | K>M | No |
ClinGen gnomAD |
|
|
rs1431645483 CA392991270 |
304 | K>R | No |
ClinGen gnomAD |
|
|
CA392991307 rs1476741205 |
309 | Y>* | No |
ClinGen TOPMed |
|
|
CA7632620 rs778291643 |
310 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754182653 CA7632621 |
311 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396791390 CA392991340 |
314 | R>C | No |
ClinGen gnomAD |
|
|
rs374173966 CA7632622 |
314 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596036073 CA392991344 |
315 | S>P | No |
ClinGen Ensembl |
|
|
VAR_035878 rs1314209013 CA392991366 |
318 | P>L | a colorectal cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
| TCGA novel | 318 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392991361 rs1243584644 |
318 | P>T | No |
ClinGen gnomAD |
|
|
CA392991379 rs1438249311 |
320 | K>R | No |
ClinGen TOPMed |
|
|
CA392991441 rs1185177643 |
328 | H>Y | No |
ClinGen gnomAD |
|
|
rs770517782 CA7632653 |
329 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1279783418 CA392991454 |
330 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759084887 CA7632656 |
333 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7632655 rs759084887 |
333 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA392991483 rs1404981906 |
335 | C>S | No |
ClinGen gnomAD |
|
|
rs765673646 CA7632659 |
336 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632660 rs750820786 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 339 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057294540 CA272494398 |
341 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7632661 rs758837711 |
342 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1489106126 CA392991575 |
348 | G>D | No |
ClinGen gnomAD |
|
|
CA272494406 rs948717225 |
351 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA272494413 rs899207694 |
353 | I>T | No |
ClinGen TOPMed |
|
|
CA392991619 rs1410445287 |
355 | M>I | No |
ClinGen gnomAD |
|
|
rs1454441066 CA392991624 |
356 | I>L | No |
ClinGen TOPMed |
|
|
rs781340309 CA392991629 |
357 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781340309 CA7632665 |
357 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632666 rs748183740 |
359 | R>W | No |
ClinGen ExAC |
|
| TCGA novel | 366 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392991714 rs776117758 |
368 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs776117758 CA7632695 |
368 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs143929028 CA272494607 |
371 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1275170816 CA392991747 |
372 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374708795 CA392991765 |
375 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392991771 rs1204074966 |
376 | E>G | No |
ClinGen gnomAD |
|
|
rs866802457 CA272494613 |
378 | A>V | No |
ClinGen Ensembl |
|
|
CA7632696 rs763525030 |
380 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596038953 CA392991799 |
381 | P>L | No |
ClinGen Ensembl |
|
|
CA272494619 rs982797504 |
381 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7632698 rs774805081 |
385 | L>R | No |
ClinGen ExAC |
|
| TCGA novel | 388 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392991857 rs1443965588 |
390 | R>* | No |
ClinGen gnomAD |
|
|
CA392991858 rs1168463453 |
390 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751301808 CA7632732 |
393 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192911584 CA392991892 |
394 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754650422 CA7632733 |
395 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA272494748 rs951036271 |
395 | M>T | No |
ClinGen TOPMed |
|
|
rs1196837181 CA392991931 |
399 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA392991929 rs1481167501 |
399 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780672019 CA392991936 |
400 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs780672019 CA7632734 |
400 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs372267861 CA272494767 |
401 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs372267861 CA392991941 |
401 | Y>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392991954 rs1383383198 |
403 | K>E | No |
ClinGen gnomAD |
|
|
CA392991965 rs1400602853 |
404 | S>C | No |
ClinGen gnomAD |
|
|
rs1304329881 CA392991987 |
407 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367515194 CA392991995 |
408 | V>A | No |
ClinGen gnomAD |
|
|
CA392992014 rs1204861633 |
411 | A>S | No |
ClinGen TOPMed |
|
|
CA7632736 rs376740273 |
413 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7632735 rs747801690 |
413 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632737 rs777320728 |
414 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA392992057 rs1281042948 |
417 | K>R | No |
ClinGen gnomAD |
|
|
rs746440309 CA7632740 |
418 | S>R | No |
ClinGen ExAC |
|
|
rs776010647 CA7632742 |
420 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1490677161 CA392992079 |
421 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769029859 CA7632744 |
422 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7632745 rs148459295 |
423 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7632746 rs561144802 |
423 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1346968001 CA392992101 |
424 | I>M | No |
ClinGen TOPMed |
|
|
rs1362399324 CA392992111 |
426 | L>V | No |
ClinGen gnomAD |
|
|
rs1305846211 CA392992127 |
428 | E>A | No |
ClinGen TOPMed |
|
|
rs540086736 CA272494810 |
429 | N>I | No |
ClinGen Ensembl |
|
|
rs765301537 CA392992140 |
430 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs765301537 CA7632748 |
430 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7632750 rs762895781 |
433 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs151010818 CA7632752 |
436 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464494480 CA392992190 |
437 | E>D | No |
ClinGen TOPMed |
|
|
rs555130626 CA7632783 |
440 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555130626 CA7632782 |
440 | R>Q | Variant assessed as Somatic; 9.326e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA393215137 rs1362587849 |
441 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1302124016 CA393215132 |
441 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748303629 CA393215157 |
444 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748303629 CA7632785 |
444 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632784 rs781425248 |
444 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272971078 rs575072892 |
447 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7632787 rs778014667 |
448 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7632789 rs749493485 |
450 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7632788 rs749493485 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393215199 rs1261771963 |
451 | R>G | No |
ClinGen gnomAD |
|
|
CA7632790 rs774406523 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393215200 rs1261771963 |
451 | R>W | No |
ClinGen gnomAD |
|
|
rs1208432203 CA393215218 |
454 | E>K | No |
ClinGen TOPMed |
|
|
CA393215227 rs759394054 |
455 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs759394054 CA7632791 |
455 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1431175121 CA393215243 |
457 | A>V | No |
ClinGen gnomAD |
|
|
rs540798094 CA393215244 |
458 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7632794 rs540798094 |
458 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763765611 CA7632795 |
458 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs763765611 CA393215247 |
458 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA272971080 rs199723216 |
459 | K>N | No |
ClinGen Ensembl |
|
|
CA393215250 rs1296329174 |
459 | K>Q | No |
ClinGen gnomAD |
|
|
CA7632796 rs566501865 |
462 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761554395 CA7632797 |
462 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7632798 rs143153155 |
463 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs532794983 CA7632800 |
464 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146678597 CA7632799 |
464 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596044176 CA393215297 |
466 | L>P | No |
ClinGen Ensembl |
|
|
rs1308115211 CA393215301 |
467 | Q>* | No |
ClinGen gnomAD |
|
|
rs1003732450 CA272971082 |
467 | Q>P | No |
ClinGen Ensembl |
|
|
rs1214254685 CA393215328 |
471 | K>R | No |
ClinGen gnomAD |
|
|
CA393215346 rs1567022281 |
473 | L>F | No |
ClinGen Ensembl |
|
|
rs1286010105 CA393215343 |
473 | L>S | No |
ClinGen gnomAD |
|
|
CA7632802 rs546189688 |
474 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs546189688 CA393215348 |
474 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1274742263 CA393215349 |
474 | R>H | No |
ClinGen TOPMed |
|
|
rs546189688 CA393215347 |
474 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266978935 CA393215361 |
476 | S>G | No |
ClinGen gnomAD |
|
|
rs377512463 CA7632804 |
477 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377512463 CA393215368 |
477 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1408427462 CA393215377 |
478 | K>R | No |
ClinGen gnomAD |
|
|
rs562497372 CA7632805 |
479 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7632806 rs140276049 |
480 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9UQ03
5 regional properties for Q9UQ03
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 73 - 125 | IPR001680-1 |
| repeat | WD40 repeat | 126 - 254 | IPR001680-2 |
| domain | Domain of unknown function DUF1899 | 10 - 75 | IPR015048 |
| conserved_site | WD40 repeat, conserved site | 103 - 117 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 153 - 167 | IPR019775-2 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| talin binding | Binding to a talin, a family of related cytoskeletal proteins that play a role in assembly of actin filaments and migration of various cell types. |
| vinculin binding | Binding to vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| negative regulation of cell-substrate adhesion | Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| negative regulation of establishment of protein localization | Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. |
| negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| positive regulation of establishment of protein localization | Any process that activates or increases the frequency, rate or extent of establishment of protein localization. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of cellular response to stress | Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). |
| regulation of glomerular filtration | Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06440 | CRN1 | Coronin-like protein | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P57737 | CORO7 | Coronin-7 | Homo sapiens (Human) | PR |
| Q9ULV4 | CORO1C | Coronin-1C | Homo sapiens (Human) | PR |
| Q6QEF8 | CORO6 | Coronin-6 | Homo sapiens (Human) | PR |
| Q9WUM4 | Coro1c | Coronin-1C | Mus musculus (Mouse) | PR |
| Q9WUM3 | Coro1b | Coronin-1B | Mus musculus (Mouse) | PR |
| Q920M5 | Coro6 | Coronin-6 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTVTKMSWRP | QYRSSKFRNV | YGKVANREHC | FDGIPITKNV | HDNHFCAVNT | RFLAIVTESA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGGSFLVIPL | EQTGRIEPNY | PKVCGHQGNV | LDIKWNPFID | NIIASCSEDT | SVRIWEIPEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GLKRNMTEAL | LELHGHSRRV | GLVEWHPTTN | NILFSAGYDY | KVLIWNLDVG | EPVKMIDCHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVILCMSFNT | DGSLLTTTCK | DKKLRVIEPR | SGRVLQEANC | KNHRVNRVVF | LGNMKRLLTT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GVSRWNTRQI | ALWDQEDLSM | PLIEEEIDGL | SGLLFPFYDA | DTHMLYLAGK | GDGNIRYYEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STEKPYLSYL | MEFRSPAPQK | GLGVMPKHGL | DVSACEVFRF | YKLVTLKGLI | EPISMIVPRR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SDSYQEDIYP | MTPGTEPALT | PDEWLGGINR | DPVLMSLKEG | YKKSSKMVFK | APIKEKKSVV |
| 430 | 440 | 450 | 460 | 470 | |
| VNGIDLLENV | PPRTENELLR | MFFRQQDEIR | RLKEELAQKD | IRIRQLQLEL | KNLRNSPKNC |