Q9UM11
PR
Gene name |
FZR1 |
Protein name |
Fizzy-related protein homolog |
Names |
Fzr, CDC20-like protein 1, Cdh1/Hct1 homolog, hCDH1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51343 |
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
278 variants for Q9UM11
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087872 | 187 | D>G | DEE109; loss-of-function variant affecting cell cycle regulation; unable to rescue aberrant cell cycle in FZR1-deficient mouse cortical cells; decreased protein levels in patient cells [UniProt] | Yes | UniProt |
|
TCGA novel VAR_087873 |
187 | D>N | Variant assessed as Somatic; impact. DEE109; fails to rescue neurodevelopmental defects in a Drosophila model system; does not affect nuclear localization [NCI-TCGA, UniProt] | Yes |
NCI-TCGA UniProt |
| VAR_087874 | 333 | N>K | DEE109; fails to rescue neurodevelopmental defects in a Drosophila model system; does not affect nuclear localization [UniProt] | Yes | UniProt |
|
CA9078077 rs749486120 |
3 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9078078 rs771143636 |
5 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1316114147 CA403325186 |
6 | E>K | No |
ClinGen gnomAD |
|
|
rs951021097 CA304376811 |
7 | R>Q | No |
ClinGen gnomAD |
|
|
CA9078079 rs371990144 |
7 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745991748 CA9078080 |
11 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772245619 CA9078081 |
11 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304376817 rs1016659941 |
13 | I>V | No |
ClinGen Ensembl |
|
|
CA9078082 rs375035740 |
14 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9078083 rs375035740 |
14 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403325237 rs945817176 |
15 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768911134 CA9078084 |
15 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304376827 rs945817176 |
15 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM474552 CA403325247 rs1160145563 |
16 | Q>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776991909 CA9078085 |
18 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403325277 rs1400087632 |
20 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9078087 rs765970647 |
21 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA403325287 rs1454715253 |
22 | P>A | No |
ClinGen gnomAD |
|
| rs371487179 | 23 | R>= | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9078088 rs369267353 |
23 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759089831 CA9078089 |
23 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403325332 rs1306607458 |
27 | M>T | No |
ClinGen gnomAD |
|
|
rs150420576 CA403325337 |
28 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770204091 CA9078124 |
28 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150420576 CA304378043 |
28 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs202131921 CA9078128 |
29 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9078127 rs202131921 |
29 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9078126 rs377200001 |
29 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9078130 rs768044432 |
32 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9078134 rs765125004 |
34 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA403325365 rs1213664354 |
34 | A>P | No |
ClinGen TOPMed |
|
|
CA9078133 rs765125004 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763294660 CA9078135 |
35 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1052945805 CA304378095 |
38 | V>A | No |
ClinGen gnomAD |
|
|
rs1274529465 CA403325389 |
38 | V>L | No |
ClinGen TOPMed |
|
|
rs766676061 CA9078136 |
39 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 42 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9078141 rs368356219 |
44 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1425769188 CA403325711 |
49 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304378111 rs868008980 |
54 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403325844 rs746625962 |
59 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746625962 CA9078146 |
59 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225766065 CA403325861 |
60 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768223395 | 65 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139197779 CA9078176 |
69 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139197779 CA9078175 |
69 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403326120 rs759834366 |
75 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759834366 CA9078177 |
75 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403326116 rs1265106596 |
75 | R>W | No |
ClinGen gnomAD |
|
|
CA403326151 rs1599783616 |
78 | K>T | No |
ClinGen Ensembl |
|
|
rs142885173 CA403326169 |
79 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146055485 CA304378249 |
80 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403326183 rs1599783630 |
81 | T>P | No |
ClinGen Ensembl |
|
|
rs374041533 CA9078181 |
84 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1200896420 CA403326237 |
85 | G>A | No |
ClinGen gnomAD |
|
|
rs754355403 CA9078182 |
85 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403326245 rs1432166598 |
86 | K>T | No |
ClinGen gnomAD |
|
|
rs777457646 CA9078208 |
88 | G>S | Variant assessed as Somatic; 4.766e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753239356 CA9078209 COSM1686278 |
88 | G>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1297236926 CA403326333 |
90 | A>D | No |
ClinGen gnomAD |
|
|
CA403326407 rs1342425757 |
96 | K>R | No |
ClinGen TOPMed |
|
|
CA9078213 rs771866008 |
103 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA403326481 rs1465019235 |
103 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403326509 rs1446224791 |
105 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403326510 rs1446224791 |
105 | E>Q | No |
ClinGen gnomAD |
|
|
rs1163667730 CA403326542 |
107 | V>L | No |
ClinGen gnomAD |
|
|
CA403326538 rs1163667730 |
107 | V>M | No |
ClinGen gnomAD |
|
|
CA9078215 rs747260291 |
110 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403326618 rs1323189428 |
112 | T>S | No |
ClinGen TOPMed |
|
|
rs1393174366 CA403326668 |
115 | R>C | No |
ClinGen TOPMed |
|
|
CA9078217 rs373146649 |
115 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393174366 CA403326664 |
115 | R>S | No |
ClinGen TOPMed |
|
|
rs769917168 CA9078219 |
116 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs773652238 CA9078220 |
116 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891620815 CA304378383 |
119 | P>H | No |
ClinGen TOPMed |
|
|
rs538723834 CA9078222 |
119 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1356219710 CA403326741 |
120 | S>F | No |
ClinGen gnomAD |
|
|
CA403326732 rs1426567806 |
120 | S>P | No |
ClinGen TOPMed |
|
|
rs567376375 CA9078223 |
121 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467964006 CA403326762 |
122 | P>S | No |
ClinGen TOPMed |
|
|
CA403326771 rs1329225043 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs1207630921 CA403326829 |
126 | G>D | No |
ClinGen gnomAD |
|
|
rs763704238 CA9078225 |
129 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1271042608 CA403327079 |
134 | T>I | No |
ClinGen gnomAD |
|
|
CA403327115 rs1199724138 |
136 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1568235906 CA403327116 |
136 | R>H | No |
ClinGen Ensembl |
|
|
CA403327137 rs1377262700 |
138 | S>G | No |
ClinGen gnomAD |
|
|
CA403327173 rs1477176504 |
139 | P>L | No |
ClinGen gnomAD |
|
|
CA304378796 rs962912288 |
140 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs972459532 CA304378799 |
141 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1393597379 CA403327220 |
142 | G>S | No |
ClinGen gnomAD |
|
|
CA9078261 rs775882980 |
144 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403327319 rs1230195026 |
147 | P>S | No |
ClinGen gnomAD |
|
|
CA403327399 rs1374334221 |
152 | P>L | No |
ClinGen gnomAD |
|
|
rs1267114241 CA403327391 |
152 | P>S | No |
ClinGen gnomAD |
|
|
rs201109329 CA9078267 |
153 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9078270 rs754880818 |
155 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs200311992 CA9078269 |
155 | N>S | No |
ClinGen TOPMed |
|
|
CA403327453 rs1190768831 |
156 | K>E | No |
ClinGen gnomAD |
|
|
CA9078304 rs770525245 |
162 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1564524 CA9078303 rs200022187 |
162 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs372570068 CA9078307 |
163 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760461120 CA9078309 COSM1392384 |
165 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs867630069 CA304379074 |
165 | R>W | No |
ClinGen Ensembl |
|
|
CA403327745 rs1286874273 |
166 | K>R | No |
ClinGen TOPMed |
|
|
CA9078310 rs764010712 |
169 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304379078 rs144842420 |
169 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403327797 rs144842420 |
169 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 171 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410591555 CA403327835 |
172 | S>A | No |
ClinGen gnomAD |
|
|
rs1471373235 CA403327839 |
172 | S>C | No |
ClinGen gnomAD |
|
|
CA403328015 rs1293528826 |
181 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 182 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308640029 CA403328046 |
183 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403328231 rs1232933129 |
191 | N>S | No |
ClinGen gnomAD |
|
|
rs1484284677 CA403328290 |
194 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251805158 CA403328346 |
196 | S>L | Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA304379102 rs894122966 COSM1583006 |
197 | S>F | meninges [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 199 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304379106 rs368437366 |
199 | N>S | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 204 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403328453 rs1599785881 |
207 | T>P | No |
ClinGen Ensembl |
|
|
rs967469604 CA304379107 |
209 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 216 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403328549 rs1599785904 |
216 | T>P | No |
ClinGen Ensembl |
|
|
rs1343813496 CA403323262 |
221 | R>Q | No |
ClinGen gnomAD |
|
|
CA403323259 rs1317988128 |
221 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 224 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9078355 rs147158939 |
227 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764538993 CA9078356 |
228 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403323327 rs1329345455 |
231 | S>L | No |
ClinGen gnomAD |
|
|
rs1568239317 CA403323348 |
235 | V>M | No |
ClinGen Ensembl |
|
|
rs1483002528 CA403323373 |
238 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287581370 CA403323409 |
242 | N>T | No |
ClinGen TOPMed |
|
|
rs913563071 CA304365849 |
244 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1362229957 CA403323425 |
245 | A>S | No |
ClinGen gnomAD |
|
|
CA403323428 rs1479148825 |
245 | A>V | No |
ClinGen gnomAD |
|
|
CA304365850 rs892509493 |
248 | T>A | No |
ClinGen Ensembl |
|
|
CA403323454 rs765576156 |
249 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403323459 rs1599792501 |
250 | K>R | No |
ClinGen Ensembl |
|
|
rs1371759175 CA403323478 |
253 | V>L | No |
ClinGen gnomAD |
|
|
rs1371759175 COSM1392389 CA403323477 |
253 | V>M | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1599792517 CA403323500 |
256 | W>G | No |
ClinGen Ensembl |
|
|
CA403323516 rs1332422715 |
258 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403323515 rs1332422715 |
258 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754635012 CA9078378 |
260 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140377183 CA304365856 |
266 | M>T | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1005802358 CA304365857 |
267 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403323603 rs1341425532 |
271 | T>A | No |
ClinGen gnomAD |
|
|
rs1195265864 CA403323606 |
271 | T>M | No |
ClinGen gnomAD |
|
|
rs992411575 CA304365859 |
273 | R>H | No |
ClinGen Ensembl |
|
|
CA9078380 rs752307097 |
274 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745701728 CA9078403 |
276 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403323645 rs1341046528 |
276 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403323651 rs1332861145 |
278 | A>T | No |
ClinGen gnomAD |
|
|
rs1261588912 CA403323663 |
279 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | W>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203796398 CA403323679 |
281 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403323694 rs1599792873 |
283 | Q>H | No |
ClinGen Ensembl |
|
|
rs748622718 CA9078409 |
285 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599792903 CA403323732 |
290 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 291 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9078413 rs766840993 |
291 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9078414 rs202153731 |
292 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403323762 rs1414096791 |
294 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403323760 rs1255744202 |
294 | L>V | No |
ClinGen TOPMed |
|
|
rs1312286596 CA403323773 |
296 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760310599 CA9078415 |
298 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763545974 CA9078416 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403323798 rs763545974 |
299 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200584048 CA9078417 |
300 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1227171022 CA403323806 |
301 | P>A | No |
ClinGen TOPMed |
|
|
CA304365869 rs910031954 |
301 | P>L | No |
ClinGen TOPMed |
|
|
CA403323814 rs1258167627 |
302 | P>L | No |
ClinGen gnomAD |
|
|
rs1210784568 CA403323832 |
305 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868064252 CA304365870 |
307 | R>Q | No |
ClinGen TOPMed |
|
|
CA9078421 rs758199150 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403323847 rs1249327818 |
308 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403323846 rs1177329604 |
308 | R>W | No |
ClinGen gnomAD |
|
|
rs747222804 CA9078423 |
311 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755176269 CA9078424 |
315 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs781251060 CA9078425 |
316 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403323925 rs1298840490 |
320 | K>R | No |
ClinGen gnomAD |
|
|
rs1372820976 CA403323937 |
321 | W>C | No |
ClinGen gnomAD |
|
|
rs1389905125 CA403323950 |
324 | D>N | No |
ClinGen gnomAD |
|
|
CA403323958 rs1161608350 |
325 | H>N | No |
ClinGen TOPMed |
|
|
rs1349045152 CA403323966 |
326 | Q>* | No |
ClinGen gnomAD |
|
|
CA403323986 rs773917396 |
329 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9078428 rs773917396 |
329 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304365935 rs902360884 |
342 | H>Q | No |
ClinGen TOPMed |
|
|
rs772310062 CA9078452 |
342 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776358889 CA9078453 |
343 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs776358889 CA403324096 |
343 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA9078455 rs769320935 |
344 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1172815624 CA403324107 |
345 | L>P | No |
ClinGen gnomAD |
|
|
rs1231086900 CA403324112 |
346 | S>N | No |
ClinGen gnomAD |
|
|
rs762426128 CA9078458 |
348 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9078457 rs762426128 COSM994819 |
348 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9078460 rs368048244 |
350 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752977280 CA9078462 |
352 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599793637 CA403324166 |
354 | H>P | No |
ClinGen Ensembl |
|
|
rs1453955780 CA403324164 |
354 | H>Y | No |
ClinGen TOPMed |
|
|
rs371550562 CA9078469 |
362 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371550562 CA9078468 |
362 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403324238 rs1343907939 |
365 | P>L | No |
ClinGen gnomAD |
|
|
CA403324244 rs1417163360 |
366 | H>R | No |
ClinGen gnomAD |
|
|
CA403324264 rs1354267714 |
369 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs972485489 CA304365937 |
372 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 373 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304365939 rs866983572 |
376 | G>D | No |
ClinGen Ensembl |
|
| rs1350973455 | 376 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256800016 CA403324328 |
380 | R>C | No |
ClinGen gnomAD |
|
|
CA403324349 rs1485366651 |
383 | R>C | No |
ClinGen gnomAD |
|
|
CA403324352 rs1241668087 |
383 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770335520 CA9078475 |
387 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1158286685 CA403324395 |
389 | T>I | No |
ClinGen gnomAD |
|
|
CA403324427 rs1437032816 |
394 | Q>H | No |
ClinGen gnomAD |
|
|
rs11542322 CA304365940 |
395 | C>R | No |
ClinGen Ensembl |
|
|
rs1174782457 CA403324437 |
396 | I>V | No |
ClinGen gnomAD |
|
|
COSM1524762 CA403324456 rs1412327723 |
398 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 403 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403324495 rs1357788894 |
404 | N>S | No |
ClinGen TOPMed |
|
|
rs1291918470 CA403324516 |
407 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403324546 rs1277472524 |
411 | A>V | No |
ClinGen gnomAD |
|
|
rs757368401 CA9078483 |
412 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765625037 CA9078523 |
432 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA403324712 rs1207308236 |
434 | T>A | No |
ClinGen gnomAD |
|
|
rs1442687365 CA403324725 |
436 | V>M | No |
ClinGen TOPMed |
|
|
rs753055653 CA9078526 |
440 | T>N | No |
ClinGen ExAC |
|
|
rs778499709 CA9078528 |
443 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1475281091 CA403324785 |
445 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779667517 CA9078531 |
446 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453727412 CA403324828 |
450 | A>V | No |
ClinGen gnomAD |
|
|
rs565432686 CA304366151 |
451 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1012728735 CA304366150 |
451 | M>T | No |
ClinGen TOPMed |
|
|
rs1357486523 CA403324830 |
451 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 457 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 460 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403324895 rs1313794048 |
461 | G>S | No |
ClinGen TOPMed |
|
|
rs904484402 CA304366153 |
465 | E>K | No |
ClinGen TOPMed |
|
|
CA403324968 rs1190101490 |
471 | N>S | No |
ClinGen Ensembl |
|
|
rs772182014 CA9078560 |
472 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9078562 rs761201993 |
474 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1304426 CA9078563 rs376637192 |
477 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs543420977 COSM1207723 CA9078564 |
477 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9078565 COSM1711610 rs762237038 |
478 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403325011 rs1467911204 |
478 | S>P | No |
ClinGen gnomAD |
|
|
rs762237038 CA304366154 |
478 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751242023 CA9078567 |
479 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs987124387 CA304366155 |
482 | K>R | No |
ClinGen TOPMed |
|
|
rs200327045 CA304366156 |
483 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764162901 CA403325065 |
484 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9078592 rs753765691 |
485 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1441144502 CA403325070 |
485 | S>C | No |
ClinGen gnomAD |
|
|
rs1441144502 CA403325069 |
485 | S>F | No |
ClinGen gnomAD |
|
|
CA403325080 rs1168315113 |
487 | S>A | No |
ClinGen TOPMed |
|
|
rs757060869 CA9078593 |
487 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs375479536 CA9078595 |
490 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1487338135 CA403325109 |
492 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472596606 CA403325138 COSM123293 |
496 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA403325137 rs1258445080 |
496 | R>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9UM11
1 regional properties for Q9UM11
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Signal transduction response regulator, receiver domain | 10 - 147 | IPR001789 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| anaphase-promoting complex | A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| anaphase-promoting complex binding | Binding to an anaphase-promoting complex. A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. |
| ubiquitin ligase activator activity | Binds to and increases the activity of a ubiquitin ligase. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| anaphase-promoting complex-dependent catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| lens fiber cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities. |
| mitotic G2 DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. |
| negative regulation of cellular senescence | Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence. |
| positive regulation of anaphase-promoting complex-dependent catabolic process | Any process that activates or increases the frequency, rate or extent of anaphase-promoting complex-dependent catabolic process. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of ubiquitin protein ligase activity | Any process that activates or increases the frequency, rate or extent of ubiquitin protein ligase activity. |
| protein K11-linked ubiquitination | A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains. |
| regulation of meiotic cell cycle | Any process that modulates the rate or extent of progression through the meiotic cell cycle. |
| regulation of meiotic nuclear division | Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q960N3 | cort | Protein cortex | Drosophila melanogaster (Fruit fly) | PR |
| Q12834 | CDC20 | Cell division cycle protein 20 homolog | Homo sapiens (Human) | PR |
| Q9JJ66 | Cdc20 | Cell division cycle protein 20 homolog | Mus musculus (Mouse) | PR |
| Q9R1K5 | Fzr1 | Fizzy-related protein homolog | Mus musculus (Mouse) | PR |
| Q62623 | Cdc20 | Cell division cycle protein 20 homolog | Rattus norvegicus (Rat) | PR |
| Q8LPL5 | FZR3 | Protein FIZZY-RELATED 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDQDYERRLL | RQIVIQNENT | MPRVTEMRRT | LTPASSPVSS | PSKHGDRFIP | SRAGANWSVN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FHRINENEKS | PSQNRKAKDA | TSDNGKDGLA | YSALLKNELL | GAGIEKVQDP | QTEDRRLQPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPEKKGLFTY | SLSTKRSSPD | DGNDVSPYSL | SPVSNKSQKL | LRSPRKPTRK | ISKIPFKVLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| APELQDDFYL | NLVDWSSLNV | LSVGLGTCVY | LWSACTSQVT | RLCDLSVEGD | SVTSVGWSER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GNLVAVGTHK | GFVQIWDAAA | GKKLSMLEGH | TARVGALAWN | AEQLSSGSRD | RMILQRDIRT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPLQSERRLQ | GHRQEVCGLK | WSTDHQLLAS | GGNDNKLLVW | NHSSLSPVQQ | YTEHLAAVKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IAWSPHQHGL | LASGGGTADR | CIRFWNTLTG | QPLQCIDTGS | QVCNLAWSKH | ANELVSTHGY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SQNQILVWKY | PSLTQVAKLT | GHSYRVLYLA | MSPDGEAIVT | GAGDETLRFW | NVFSKTRSTK |
| 490 | |||||
| VKWESVSVLN | LFTRIR |