P24864
PR
Gene name |
CCNE1 (CCNE) |
Protein name |
G1/S-specific cyclin-E1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:898 |
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
10 structures for P24864
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1W98 | X-ray | 215 A | B | 96-378 | PDB |
| 5L2W | X-ray | 280 A | B | 96-378 | PDB |
| 7KJS | X-ray | 219 A | B | 96-378 | PDB |
| 7XQK | X-ray | 225 A | B | 96-378 | PDB |
| 8H4R | X-ray | 275 A | B | 96-378 | PDB |
| 8H6P | X-ray | 244 A | B | 103-373 | PDB |
| 8H6T | X-ray | 300 A | B | 102-373 | PDB |
| 8VQ3 | X-ray | 184 A | B | 96-378 | PDB |
| 8VQ4 | X-ray | 190 A | B | 96-378 | PDB |
| AF-P24864-F1 | Predicted | AlphaFoldDB |
282 variants for P24864
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA405260898 rs1599594280 |
2 | P>L | No |
ClinGen Ensembl |
|
|
CA307135774 rs995865961 |
2 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA307135775 rs1014086924 |
5 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405260928 rs1392000524 |
7 | E>K | No |
ClinGen TOPMed |
|
|
rs1284831314 CA405260937 |
8 | R>P | No |
ClinGen gnomAD |
|
|
rs1284831314 CA405260936 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
CA307135776 rs765558494 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377233800 CA9352090 |
9 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA307135788 rs377233800 |
9 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1242761919 CA405260960 |
10 | A>V | No |
ClinGen TOPMed |
|
|
rs1357182033 CA405260971 |
12 | E>K | No |
ClinGen gnomAD |
|
|
CA405260981 rs1244850159 |
13 | R>Q | No |
ClinGen gnomAD |
|
|
rs752180309 CA9352094 |
16 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352095 rs752180309 |
16 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305959499 CA405261013 |
18 | E>K | No |
ClinGen TOPMed |
|
|
rs1469198229 CA405261023 |
19 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA405261024 rs1469198229 |
19 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749906913 CA9352097 |
19 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405261028 rs1409795988 |
20 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405261034 rs1275105376 |
21 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9352099 rs779694639 |
21 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs578227778 CA307135790 |
22 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9352100 rs749045990 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405261042 COSM474498 rs578227778 |
22 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs778672861 CA9352102 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9352104 rs771972554 |
25 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405261065 rs1250060364 |
26 | A>S | No |
ClinGen TOPMed |
|
|
CA9352105 rs776712074 |
27 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776712074 CA405261070 |
27 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352106 rs745919586 |
27 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745919586 CA405261071 |
27 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352107 rs145289511 |
28 | S>F | No |
ClinGen ESP ExAC |
|
|
CA405261089 rs1205916639 |
30 | K>R | No |
ClinGen gnomAD |
|
|
CA405261093 rs1443126704 |
31 | R>G | No |
ClinGen gnomAD |
|
|
CA405261108 rs1437724105 |
33 | A>T | No |
ClinGen gnomAD |
|
|
CA405261112 rs1186891855 |
33 | A>V | No |
ClinGen gnomAD |
|
|
rs763083338 CA9352109 |
34 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9352110 rs369751087 |
35 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405261127 rs1355673586 |
36 | T>A | No |
ClinGen TOPMed |
|
|
CA405261129 rs1472595244 |
36 | T>N | No |
ClinGen gnomAD |
|
|
rs774836905 CA9352111 |
37 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405261132 rs774836905 |
37 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772724283 CA9352140 |
38 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1225643119 CA405261171 |
41 | D>N | No |
ClinGen gnomAD |
|
|
CA405261176 rs1280453007 |
41 | D>V | No |
ClinGen TOPMed |
|
|
rs146376659 CA405261183 |
42 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352142 rs146376659 |
42 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759252695 CA9352145 |
43 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765951124 CA9352143 |
43 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765951124 CA9352144 |
43 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1490679833 CA405261196 |
44 | E>D | No |
ClinGen gnomAD |
|
|
rs764828115 CA9352146 |
46 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405261223 rs1260554501 COSM994394 |
48 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA405261234 rs1426540908 |
49 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA405261237 rs1195034768 |
50 | D>H | No |
ClinGen gnomAD |
|
|
CA405261236 rs1195034768 |
50 | D>N | No |
ClinGen gnomAD |
|
|
CA405261235 rs1195034768 |
50 | D>Y | No |
ClinGen gnomAD |
|
|
rs1225873654 CA405261245 |
51 | R>K | No |
ClinGen gnomAD |
|
|
rs879397969 CA405261253 |
52 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs879397969 CA307135804 |
52 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs35886256 CA9352148 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363796932 CA405261277 |
56 | Q>* | No |
ClinGen gnomAD |
|
|
CA405261300 rs1384503695 |
59 | S>N | No |
ClinGen gnomAD |
|
|
rs1298185322 CA405261305 |
60 | Q>K | No |
ClinGen gnomAD |
|
|
CA405261458 rs1161685345 |
61 | P>T | No |
ClinGen gnomAD |
|
|
rs374431756 CA405261506 |
63 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9352173 rs779134402 |
63 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141877912 CA9352175 |
64 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9352176 rs778224499 |
64 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201174024 CA9352177 |
65 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771474736 CA9352178 |
66 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776946024 CA9352179 |
68 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405261574 rs1288643920 |
68 | C>W | No |
ClinGen gnomAD |
|
|
CA405261568 rs776946024 |
68 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998966219 CA307136313 |
69 | A>V | No |
ClinGen Ensembl |
|
|
CA9352180 rs746361520 |
70 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769333246 CA9352181 |
71 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9352183 rs762615251 |
73 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9352185 rs774197405 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1184407047 CA405261698 |
78 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9352187 rs767327617 |
79 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240513553 CA405261712 |
79 | D>N | No |
ClinGen TOPMed |
|
|
rs756093210 CA9352189 |
81 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1292366571 CA405261781 |
82 | D>G | No |
ClinGen TOPMed |
|
|
CA9352190 rs147120845 |
83 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777793550 CA9352193 |
85 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758728524 CA9352192 |
85 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1232451679 CA405261853 |
88 | P>R | No |
ClinGen gnomAD |
|
|
rs1431148904 CA405261858 |
89 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352194 rs747414395 |
91 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA405261898 rs1344543517 |
91 | T>M | No |
ClinGen gnomAD |
|
|
CA9352198 rs770236821 |
95 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352197 COSM48272 rs574899763 |
95 | R>W | lung urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs867465231 CA307136316 |
98 | A>V | No |
ClinGen Ensembl |
|
|
rs775011048 CA9352199 |
99 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352201 rs141027304 |
101 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368948662 CA405262058 |
103 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368948662 CA9352202 |
103 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1490189851 CA405262083 |
104 | P>L | No |
ClinGen gnomAD |
|
|
rs771807268 CA9352204 |
105 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599599505 CA405262108 |
107 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904766205 CA307136327 |
111 | A>G | No |
ClinGen TOPMed |
|
|
CA9352230 rs201199358 |
116 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9352232 rs767658103 |
118 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1568368859 CA405262418 |
122 | N>D | No |
ClinGen Ensembl |
|
|
rs1315717726 CA405262445 |
123 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200523129 CA9352234 |
130 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336059359 CA405262500 |
131 | Q>E | No |
ClinGen gnomAD |
|
|
CA405262522 rs1357714062 |
134 | L>I | No |
ClinGen Ensembl |
|
|
CA405262548 rs1599599743 |
137 | H>P | No |
ClinGen Ensembl |
|
|
CA405262551 rs1324823402 |
137 | H>Q | No |
ClinGen TOPMed |
|
|
CA307136328 rs973067352 |
139 | L>P | No |
ClinGen TOPMed |
|
|
CA405262579 rs1286018059 |
142 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405262580 rs1286018059 |
142 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA307136329 rs918480017 |
142 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1315133523 CA405262586 |
143 | K>R | No |
ClinGen gnomAD |
|
|
CA405262594 rs1357077075 |
144 | M>T | No |
ClinGen gnomAD |
|
|
rs113246237 CA9352237 |
147 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352239 rs747657093 |
153 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs778311875 CA9352238 |
153 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9352259 rs752164684 |
155 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9352261 rs777419186 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1306252772 CA405263373 |
159 | Y>C | No |
ClinGen gnomAD |
|
|
rs1372700367 CA405263381 |
160 | K>R | No |
ClinGen gnomAD |
|
|
CA9352264 rs781162822 |
162 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9352265 rs138463303 |
164 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA405263448 rs1368666276 |
170 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA405263489 rs1352565996 |
175 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9352268 rs372635299 |
178 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA307136725 rs761652754 |
187 | L>V | No |
ClinGen Ensembl |
|
| rs1165447822 | 188 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405263600 rs1221326568 |
191 | I>T | No |
ClinGen gnomAD |
|
|
rs760913241 CA9352271 |
193 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199263662 CA405263674 |
202 | L>R | No |
ClinGen gnomAD |
|
|
CA9352290 rs149261350 |
206 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534391061 CA9352289 |
206 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9352291 rs747029180 |
207 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771158585 CA9352292 |
209 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs571092461 CA9352293 |
209 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352295 rs770236070 |
211 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA405263753 rs1292984158 |
212 | Q>H | No |
ClinGen TOPMed |
|
|
CA9352296 COSM1200155 rs146187350 |
214 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA405263771 rs1483549705 |
215 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405263807 rs1245069996 |
220 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA881271868 rs1439885543 |
221 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259738407 CA405263811 |
221 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9352299 rs751127659 |
224 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1462598632 CA405263861 |
228 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1034996209 CA307136828 |
229 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1460807723 CA405263906 |
231 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405263926 rs1254177499 |
232 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766930038 CA9352301 |
232 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA307136830 rs34609353 |
233 | I>M | No |
ClinGen TOPMed |
|
|
CA307136831 rs868405846 |
234 | M>I | No |
ClinGen TOPMed |
|
|
rs750127967 CA9352302 |
235 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA405264077 rs1568371142 |
238 | K>T | No |
ClinGen Ensembl |
|
|
CA405264110 rs1411284279 |
240 | R>C | No |
ClinGen gnomAD |
|
|
rs146040933 CA9352329 |
240 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299928139 CA405264145 |
242 | S>N | No |
ClinGen TOPMed |
|
|
rs1217245270 CA405264176 |
245 | T>S | No |
ClinGen gnomAD |
|
|
rs1430110442 CA405264185 |
246 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1303375022 CA405264192 |
247 | V>M | No |
ClinGen gnomAD |
|
|
rs1312700382 CA405264230 |
250 | L>M | No |
ClinGen gnomAD |
|
|
CA405264258 rs1286820236 |
251 | N>K | No |
ClinGen TOPMed |
|
|
rs1363636644 CA405264256 |
251 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947197915 CA307136841 |
254 | M>I | No |
ClinGen Ensembl |
|
|
rs1418732142 CA405264285 |
254 | M>L | No |
ClinGen TOPMed |
|
|
rs745896656 CA9352330 |
254 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9352332 rs780481546 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9352331 rs780422969 |
258 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307136843 rs991552541 |
260 | N>D | No |
ClinGen TOPMed |
|
|
CA9352334 rs61750863 |
260 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405264421 rs1427947159 |
263 | H>R | No |
ClinGen gnomAD |
|
|
CA405264415 rs1378454959 |
263 | H>Y | No |
ClinGen gnomAD |
|
|
CA9352335 rs150760804 |
266 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189673443 CA9352338 |
268 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9352337 rs189673443 |
268 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9352339 rs760050164 |
269 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405264590 rs765901803 |
275 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405264601 rs1295061842 |
276 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs550305011 CA307136844 |
279 | A>V | No |
ClinGen 1000Genomes |
|
|
CA9352359 rs776097311 |
281 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9352361 rs764831974 |
282 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs775361688 CA9352363 |
283 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs201564787 CA307136850 |
284 | L>P | No |
ClinGen 1000Genomes |
|
|
CA405264722 rs1352102312 |
288 | D>H | No |
ClinGen Ensembl |
|
|
rs1208466533 CA405264741 |
290 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9352364 rs762712656 |
290 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763943099 CA9352365 |
291 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA405264766 rs1466631417 |
294 | F>Y | No |
ClinGen gnomAD |
|
|
CA9352366 rs139792204 |
295 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405264791 rs1249477312 |
298 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405264811 rs1196239973 |
301 | A>S | No |
ClinGen TOPMed |
|
|
CA405264820 rs1449890888 |
302 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9352370 rs369422968 |
305 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9352371 rs779222474 |
308 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231827332 CA405264872 |
310 | S>C | No |
ClinGen TOPMed |
|
|
rs1231827332 CA405264873 |
310 | S>Y | No |
ClinGen TOPMed |
|
|
rs752953807 CA9352372 |
312 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs758760456 CA9352373 |
313 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1333385090 CA405264911 |
315 | K>N | No |
ClinGen gnomAD |
|
|
CA405264939 rs1399940029 |
318 | G>A | No |
ClinGen gnomAD |
|
|
CA9352374 rs778173124 |
318 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252378705 CA405264964 |
321 | W>C | No |
ClinGen Ensembl |
|
|
rs1023028166 CA307136855 |
321 | W>R | No |
ClinGen TOPMed |
|
|
rs757767972 CA9352394 |
323 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405264988 rs1286644454 |
325 | E>K | No |
ClinGen gnomAD |
|
|
rs544560032 CA9352395 |
328 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746367838 CA307136856 |
329 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405265034 rs1280438075 |
331 | M>L | No |
ClinGen gnomAD |
|
|
rs769332791 CA9352397 |
332 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA405265045 rs769332791 |
332 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253496863 CA405265056 |
334 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405265071 rs1599604412 |
336 | M>I | No |
ClinGen Ensembl |
|
|
rs748914866 COSM1392408 CA9352399 |
336 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768311443 CA9352400 |
338 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA405265086 rs1375913707 |
339 | R>G | No |
ClinGen gnomAD |
|
|
rs1375913707 CA405265087 |
339 | R>W | No |
ClinGen gnomAD |
|
|
rs200042616 CA9352401 |
341 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395798003 CA405265108 |
342 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405265122 rs1306461910 |
344 | S>P | No |
ClinGen gnomAD |
|
|
rs773352937 CA9352404 |
345 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405265147 rs1392404768 |
348 | H>D | No |
ClinGen gnomAD |
|
|
rs760662828 CA9352405 |
348 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1056559593 CA307136857 |
350 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9352406 rs377334228 |
351 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405265174 rs1304746106 |
352 | V>F | No |
ClinGen gnomAD |
|
|
CA405265172 rs1304746106 |
352 | V>I | No |
ClinGen gnomAD |
|
|
COSM439172 CA405265178 rs1225502237 |
353 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1276415127 CA405265200 |
356 | D>N | No |
ClinGen gnomAD |
|
|
CA405265219 rs1386011056 |
358 | H>Q | No |
ClinGen TOPMed |
|
|
rs751936036 CA9352410 |
358 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208809143 CA405265222 |
359 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307136859 rs748789990 |
360 | I>V | No |
ClinGen Ensembl |
|
|
CA9352412 rs767834371 |
364 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9352413 rs750976115 |
366 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756562829 CA9352414 |
367 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405265303 rs1448987129 |
370 | L>R | No |
ClinGen gnomAD |
|
|
CA405265332 rs1568372322 |
373 | A>T | No |
ClinGen Ensembl |
|
|
rs368180317 CA9352434 COSM3742882 |
374 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754580480 CA9352435 |
375 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9352436 rs778537865 |
377 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405265364 rs1463404926 |
378 | A>S | No |
ClinGen gnomAD |
|
|
CA9352439 rs758079121 |
379 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352438 rs747856215 |
379 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777743353 CA9352440 |
382 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776690668 CA9352443 |
389 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9352446 rs774365725 |
391 | S>R | No |
ClinGen ExAC |
|
|
rs184647504 CA9352445 |
391 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762053632 CA9352447 |
393 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9352448 rs772211604 |
394 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9352449 rs773575462 |
394 | L>P | No |
ClinGen ExAC |
|
|
rs766646576 CA9352451 |
395 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9352455 rs764865470 |
400 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9352454 rs764865470 |
400 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027875778 CA307136986 |
400 | G>V | No |
ClinGen Ensembl |
|
|
CA405265518 rs1254403211 |
402 | K>N | No |
ClinGen gnomAD |
|
|
CA9352457 rs777510598 |
406 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA307136987 rs926232732 |
406 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM186227 rs147896943 CA9352459 |
407 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751159799 CA9352458 |
407 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs141578348 CA9352461 COSM186228 |
410 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with P24864
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cyclin E1-CDK2 complex | A protein complex consisting of cyclin E1 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner. |
| cyclin-dependent protein kinase holoenzyme complex | Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclin-dependent protein serine/threonine kinase regulator activity | Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| homologous chromosome pairing at meiosis | The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
| mitotic cell cycle phase transition | The cell cycle process by which a cell commits to entering the next mitotic cell cycle phase. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of mesenchymal stem cell proliferation | Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell proliferation. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20438 | CLN2 | G1/S-specific cyclin CLN2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P24869 | CLB2 | G2/mitotic-specific cyclin-2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P41002 | CCNF | Cyclin-F | Homo sapiens (Human) | PR |
| O95067 | CCNB2 | G2/mitotic-specific cyclin-B2 | Homo sapiens (Human) | PR |
| P30279 | CCND2 | G1/S-specific cyclin-D2 | Homo sapiens (Human) | PR |
| Q6ZMN8 | CCNI2 | Cyclin-I2 | Homo sapiens (Human) | PR |
| Q61457 | Ccne1 | G1/S-specific cyclin-E1 | Mus musculus (Mouse) | PR |
| Q10PQ9 | SDS | Cyclin-SDS-like | Oryza sativa subsp japonica (Rice) | PR |
| Q0JIF2 | CYCB1-1 | Cyclin-B1-1 | Oryza sativa subsp japonica (Rice) | PR |
| Q10Q62 | CYCF3-2 | Putative cyclin-F3-2 | Oryza sativa subsp japonica (Rice) | PR |
| O48790 | CYCB1-4 | Cyclin-B1-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A0MEB5 | CYCA3-3 | Cyclin-A3-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMH5 | CYCA3-1 | Putative cyclin-A3-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PFW3 | SDS | Cyclin-SDS | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C6A9 | CYCA3-2 | Cyclin-A3-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P47794 | ccne1 | G1/S-specific cyclin-E1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRERRERDA | KERDTMKEDG | GAEFSARSRK | RKANVTVFLQ | DPDEEMAKID | RTARDQCGSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PWDNNAVCAD | PCSLIPTPDK | EDDDRVYPNS | TCKPRIIAPS | RGSPLPVLSW | ANREEVWKIM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNKEKTYLRD | QHFLEQHPLL | QPKMRAILLD | WLMEVCEVYK | LHRETFYLAQ | DFFDRYMATQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ENVVKTLLQL | IGISSLFIAA | KLEEIYPPKL | HQFAYVTDGA | CSGDEILTME | LMIMKALKWR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSPLTIVSWL | NVYMQVAYLN | DLHEVLLPQY | PQQIFIQIAE | LLDLCVLDVD | CLEFPYGILA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASALYHFSSS | ELMQKVSGYQ | WCDIENCVKW | MVPFAMVIRE | TGSSKLKHFR | GVADEDAHNI |
| 370 | 380 | 390 | 400 | ||
| QTHRDSLDLL | DKARAKKAML | SEQNRASPLP | SGLLTPPQSG | KKQSSGPEMA |