Q6ZMN8
PR
Gene name |
CCNI2 |
Protein name |
Cyclin-I2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:645121 |
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 Q6ZMN8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZMN8-F1 | Predicted | AlphaFoldDB |
290 variants for Q6ZMN8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1175194045 CA360969868 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA360969873 rs1403839750 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA3406556 rs545836847 |
3 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360969910 rs1366068631 |
7 | L>F | No |
ClinGen gnomAD |
|
|
CA127280492 rs749584594 |
7 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749584594 CA3406557 |
7 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201976686 CA3406558 |
8 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868736961 CA127280512 |
9 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772146159 CA127280536 |
10 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3406560 rs748295286 |
10 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1561723581 CA360969961 |
11 | P>Q | No |
ClinGen Ensembl |
|
|
rs1460614129 CA360969959 |
11 | P>S | No |
ClinGen TOPMed |
|
|
rs1245651320 CA360969981 |
13 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA127280538 rs893648030 |
13 | S>N | No |
ClinGen TOPMed |
|
|
CA360969985 rs893648030 |
13 | S>T | No |
ClinGen TOPMed |
|
|
rs1191711801 CA360970039 |
17 | S>C | No |
ClinGen TOPMed |
|
|
rs1248102204 CA360970072 |
19 | V>F | No |
ClinGen gnomAD |
|
|
CA360970082 rs1190400953 |
20 | Q>* | No |
ClinGen gnomAD |
|
|
rs1194189909 CA360970088 |
20 | Q>R | No |
ClinGen gnomAD |
|
|
CA127280546 rs1042346189 |
22 | P>A | No |
ClinGen TOPMed |
|
|
rs544540912 CA3406563 |
25 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360970157 rs1159876868 |
25 | R>H | No |
ClinGen gnomAD |
|
|
rs1400223857 CA360970166 |
26 | P>H | No |
ClinGen gnomAD |
|
|
rs1400223857 CA360970170 |
26 | P>L | No |
ClinGen gnomAD |
|
|
rs1389404161 CA360970165 |
26 | P>S | No |
ClinGen gnomAD |
|
|
rs1316407690 CA360970175 |
27 | G>S | No |
ClinGen gnomAD |
|
|
CA360970200 rs1437529192 |
29 | G>D | No |
ClinGen gnomAD |
|
|
rs913397292 CA127280555 |
29 | G>S | No |
ClinGen TOPMed |
|
|
CA360970204 rs1358841098 |
30 | L>M | No |
ClinGen gnomAD |
|
|
rs1283008150 CA360970209 |
30 | L>P | No |
ClinGen gnomAD |
|
|
CA3406564 rs771022573 |
31 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1302503968 CA360970254 |
33 | T>R | No |
ClinGen TOPMed |
|
|
rs998841162 CA127280562 |
35 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 36 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA127280577 rs945819022 |
36 | G>D | No |
ClinGen TOPMed |
|
|
rs759226295 CA3406566 |
39 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360970319 rs759226295 |
39 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3406567 rs769825016 |
41 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA127280591 rs1030368944 |
44 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA127280596 rs890532395 |
45 | E>* | No |
ClinGen TOPMed gnomAD |
|
| rs1451822015 | 45 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA127280602 rs1007644149 |
46 | A>D | No |
ClinGen Ensembl |
|
|
rs1266485094 CA360970421 |
47 | P>A | No |
ClinGen gnomAD |
|
|
CA127280606 rs1050062160 |
50 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360970454 rs1050062160 |
50 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 52 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360970510 rs1469640817 |
54 | S>I | No |
ClinGen gnomAD |
|
|
CA3406569 rs762915699 |
56 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3406570 rs182050188 |
57 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360970540 rs1406147297 |
57 | P>S | No |
ClinGen gnomAD |
|
|
rs751064167 CA360970560 |
60 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs751064167 CA3406571 |
60 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3406572 rs761557750 |
62 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127280622 rs761557750 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335669277 CA360970598 |
63 | G>A | No |
ClinGen gnomAD |
|
|
rs767054697 CA3406573 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356501498 CA360970622 |
65 | A>V | No |
ClinGen gnomAD |
|
|
CA360970637 rs1289187725 |
66 | S>F | No |
ClinGen gnomAD |
|
|
CA360970643 rs1193082895 |
67 | L>F | No |
ClinGen TOPMed |
|
|
CA360970648 rs1343959338 |
67 | L>R | No |
ClinGen gnomAD |
|
|
CA360970691 rs1250877344 |
70 | A>V | No |
ClinGen gnomAD |
|
|
CA360970708 rs1189597001 |
72 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360970712 rs1485722841 |
72 | A>V | No |
ClinGen TOPMed |
|
|
CA360970725 rs1217511933 |
73 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360970736 rs1473184381 |
74 | V>A | No |
ClinGen gnomAD |
|
|
rs560447120 CA3406575 |
74 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360970756 rs1280318854 |
76 | V>L | No |
ClinGen TOPMed |
|
|
rs1561723883 CA360970767 |
77 | R>G | No |
ClinGen Ensembl |
|
|
CA360970769 rs1232905178 |
77 | R>Q | No |
ClinGen TOPMed |
|
|
CA360970779 rs1163093694 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs1024410863 CA127280642 |
79 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1431921844 CA360970791 |
79 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1380193828 CA360970807 |
80 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs570865198 CA360970817 |
81 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570865198 CA360970816 |
81 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396273637 CA360970810 |
81 | G>S | No |
ClinGen gnomAD |
|
|
rs570865198 CA3406576 |
81 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs879941016 CA127280648 |
82 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1340509323 CA360970841 |
83 | A>V | No |
ClinGen gnomAD |
|
|
CA360970847 rs1451288197 |
84 | P>S | No |
ClinGen gnomAD |
|
|
rs981740825 CA127280662 CA360970868 |
86 | G>R | No |
ClinGen TOPMed |
|
|
CA127280672 rs552604379 |
89 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3406577 rs753218309 |
90 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_043471 CA3406578 rs803056 |
91 | A>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs803056 CA360970902 |
91 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202067843 CA360970906 |
91 | A>V | No |
ClinGen gnomAD |
|
|
rs1443014644 CA360970909 |
92 | V>F | No |
ClinGen gnomAD |
|
|
CA3406581 rs771229469 |
94 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA360970922 rs771229469 |
94 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA360970919 rs1451521254 |
94 | A>T | No |
ClinGen gnomAD |
|
|
CA3406584 rs769478980 |
95 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3406583 rs6897725 |
95 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360970927 rs769478980 |
95 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127280735 rs913430247 |
97 | P>R | No |
ClinGen TOPMed |
|
|
CA360970954 rs568352168 |
98 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1366790836 CA360970980 |
100 | A>V | No |
ClinGen gnomAD |
|
|
rs1306559210 CA360970997 |
102 | R>L | No |
ClinGen TOPMed |
|
|
rs1224665447 CA360970993 |
102 | R>W | No |
ClinGen TOPMed |
|
|
rs1435302413 CA360971009 |
103 | P>L | No |
ClinGen gnomAD |
|
|
rs946219281 CA127280754 |
103 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA127280772 rs1042273000 |
104 | A>T | No |
ClinGen gnomAD |
|
|
CA360971053 rs1324401404 |
107 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1275280275 CA360971060 |
108 | R>H | No |
ClinGen gnomAD |
|
|
rs933932444 CA127280786 |
110 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360971087 rs933932444 |
110 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA127280784 rs923061368 |
110 | P>S | No |
ClinGen TOPMed |
|
|
CA360971091 rs1261306892 |
111 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360971107 rs1466329851 |
112 | N>S | No |
ClinGen gnomAD |
|
|
CA360971158 rs1261306246 |
116 | D>N | No |
ClinGen gnomAD |
|
|
rs931692334 CA127280787 |
117 | L>V | No |
ClinGen TOPMed |
|
|
rs890476605 CA360971189 CA127280790 |
118 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA127280789 rs1051725362 |
118 | D>V | No |
ClinGen Ensembl |
|
|
rs1201446494 CA360971200 |
119 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1378644556 CA360971205 |
119 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868721014 CA127280796 |
120 | R>G | No |
ClinGen Ensembl |
|
|
CA360971215 rs1183420359 |
120 | R>H | No |
ClinGen TOPMed |
|
|
CA127280800 rs867378211 |
121 | R>K | No |
ClinGen Ensembl |
|
|
rs1352186324 CA360971223 |
121 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1457313620 CA360971308 |
128 | L>M | No |
ClinGen gnomAD |
|
|
CA360971319 rs1249121034 COSM1619450 |
129 | A>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3406586 rs763005380 |
131 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA127280818 rs887438943 |
132 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360971367 rs1344689144 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1006177020 CA127280825 |
135 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1036268551 CA127280833 |
135 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3406588 rs774045281 |
137 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286092751 CA360971397 |
137 | W>R | No |
ClinGen gnomAD |
|
|
CA3406590 rs767268514 |
140 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360971425 rs1581114364 |
141 | K>R | No |
ClinGen Ensembl |
|
|
CA360971432 rs1581114375 |
142 | P>L | No |
ClinGen Ensembl |
|
|
rs1485014228 CA360971431 |
142 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771494425 CA3406612 |
145 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA127281539 rs955143191 |
149 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760273104 CA3406615 |
149 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360971523 rs1177182052 |
153 | V>L | No |
ClinGen gnomAD |
|
|
CA127281549 rs1020325510 |
154 | V>E | No |
ClinGen TOPMed |
|
|
CA360971556 rs1581114907 |
158 | L>P | No |
ClinGen Ensembl |
|
|
CA127281557 rs986651033 |
159 | R>W | No |
ClinGen gnomAD |
|
|
rs1412115758 CA360971563 |
160 | L>F | No |
ClinGen gnomAD |
|
|
CA127281560 rs577214104 |
160 | L>H | No |
ClinGen 1000Genomes |
|
|
CA360971571 rs1398855005 |
161 | Q>R | No |
ClinGen TOPMed |
|
|
rs1384242376 CA360971584 |
163 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | Y>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3406618 rs189368533 |
166 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116622403 CA3406617 |
166 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360971623 rs1370985322 |
168 | Q>H | No |
ClinGen gnomAD |
|
|
rs1455654914 CA360971626 |
169 | S>P | No |
ClinGen TOPMed |
|
|
CA3406620 rs752015260 |
171 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030984147 CA127281591 |
172 | N>K | No |
ClinGen TOPMed |
|
|
rs767518495 CA3406622 |
175 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA360971672 rs1397873361 |
176 | T>I | No |
ClinGen gnomAD |
|
|
rs750476771 CA3406623 |
177 | I>N | No |
ClinGen ExAC |
|
|
rs780401710 CA3406625 |
180 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201156649 CA360971695 |
180 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201156649 COSM1619452 CA3406626 |
180 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1281737432 CA360971720 |
184 | S>L | No |
ClinGen TOPMed |
|
|
rs1308464615 CA360971723 |
185 | V>M | No |
ClinGen gnomAD |
|
|
CA3406645 rs754125940 |
189 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899577717 CA127282135 |
190 | K>R | No |
ClinGen Ensembl |
|
|
rs1184555245 CA360971776 |
191 | Y>H | No |
ClinGen gnomAD |
|
|
rs1427053899 CA360971797 |
194 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373566408 CA3406647 |
195 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360971816 rs1445084369 |
197 | I>V | No |
ClinGen TOPMed |
|
|
CA3406648 rs747941084 |
198 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3406650 rs777749134 |
201 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346003196 CA360971847 |
202 | L>V | No |
ClinGen gnomAD |
|
|
rs770435493 CA3406652 |
203 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs548714263 CA3406654 |
205 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3406659 rs762217239 |
209 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1229683296 CA360971899 |
210 | E>K | No |
ClinGen gnomAD |
|
|
rs144622226 CA3406676 |
215 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160573936 CA360972063 |
217 | K>E | No |
ClinGen TOPMed |
|
|
CA3406677 rs748825033 |
217 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3406678 rs772498235 |
221 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA360972126 rs1438061308 |
222 | H>R | No |
ClinGen TOPMed |
|
|
rs768924657 CA3406679 |
223 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360972150 COSM3826730 rs1192078740 |
224 | G>D | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA360972161 rs1175636263 |
225 | S>C | No |
ClinGen gnomAD |
|
|
CA360972170 rs1489690336 |
226 | D>G | No |
ClinGen TOPMed |
|
|
CA3406680 rs761293144 |
226 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771530528 CA3406681 |
227 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs201743940 CA127283116 |
228 | S>F | No |
ClinGen 1000Genomes |
|
|
CA3406682 rs776897282 |
229 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs979892286 CA127283160 |
230 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs979892286 CA360972207 |
230 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs147866489 CA3406685 |
234 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763975535 CA3406687 |
235 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3406686 rs573601371 |
235 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1305863986 CA360972255 |
235 | M>V | No |
ClinGen TOPMed |
|
|
CA127283188 rs374553544 |
239 | I>L | No |
ClinGen Ensembl |
|
|
CA360972344 rs767783085 |
243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3406688 rs767783085 |
243 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141664835 CA3406689 |
247 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA127283198 rs913173702 |
248 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1242760155 CA360972414 |
249 | I>T | No |
ClinGen gnomAD |
|
|
CA3406691 rs749993881 |
251 | T>M | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774280984 CA3406693 |
252 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3406695 rs754544747 |
253 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360972450 rs1245082766 |
254 | D>Y | No |
ClinGen gnomAD |
|
|
rs138375376 CA3406697 |
255 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778319161 CA3406696 |
255 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127283241 rs901219415 |
256 | L>F | No |
ClinGen Ensembl |
|
|
CA360972465 rs1383726515 |
256 | L>V | No |
ClinGen gnomAD |
|
|
CA360972475 rs1476593986 |
257 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3406698 rs771620191 |
258 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3406724 rs200114738 |
260 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs761957678 CA3406725 |
261 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs78904826 CA127284041 |
267 | W>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs78904826 CA360972659 |
267 | W>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3406726 rs767320935 |
267 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3406727 rs115692489 |
268 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3406728 rs760705615 |
269 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1303594606 CA360972671 |
269 | H>Q | No |
ClinGen gnomAD |
|
|
CA3406729 rs199927703 |
270 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3406731 rs759108150 |
272 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs115152193 CA3406730 |
272 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764769439 CA3406732 |
273 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260368208 CA360972719 |
277 | R>K | No |
ClinGen gnomAD |
|
|
rs1196597398 CA360972729 |
278 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3406736 rs750725957 |
280 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360972755 rs1490322828 |
282 | H>Y | No |
ClinGen gnomAD |
|
|
rs780414471 CA3406739 COSM1200165 |
283 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA127284140 rs780414471 |
283 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3406742 rs376378013 |
284 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360972771 rs1283273425 |
284 | A>V | No |
ClinGen TOPMed |
|
|
rs748399608 CA3406743 |
286 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360972793 rs1422617646 |
288 | R>G | No |
ClinGen gnomAD |
|
|
CA360972818 rs1375543897 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
CA360972832 rs1392049458 |
292 | H>Q | No |
ClinGen gnomAD |
|
|
rs1581122175 CA360972833 |
293 | C>R | No |
ClinGen Ensembl |
|
|
rs1374949678 CA360972845 |
294 | M>T | No |
ClinGen gnomAD |
|
|
CA3406746 rs760371108 |
295 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341188935 CA360972858 |
296 | G>D | No |
ClinGen TOPMed |
|
|
CA127284205 rs973245890 |
303 | K>N | No |
ClinGen Ensembl |
|
|
CA127284207 rs919625405 |
304 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360972920 rs919625405 |
304 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360972924 rs1359214157 |
304 | G>V | No |
ClinGen gnomAD |
|
|
rs776433041 CA3406748 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360972954 rs1481277580 |
309 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1446064985 CA360972991 |
313 | T>I | No |
ClinGen gnomAD |
|
|
rs553274041 CA127284226 |
315 | E>D | No |
ClinGen 1000Genomes |
|
|
rs952500171 CA127284220 |
315 | E>Q | No |
ClinGen TOPMed |
|
|
rs368331115 CA127284233 |
316 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs918702721 CA360973016 |
317 | E>A | No |
ClinGen TOPMed |
|
|
CA127284245 rs918702721 |
317 | E>G | No |
ClinGen TOPMed |
|
|
rs1247997104 CA360973026 |
318 | R>S | No |
ClinGen gnomAD |
|
|
rs1384341209 CA360973047 |
321 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360973055 rs1355025840 |
322 | G>D | No |
ClinGen gnomAD |
|
|
CA360973052 rs1172375028 |
322 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs538880792 CA3406752 |
323 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360973070 rs1581122503 |
324 | C>G | No |
ClinGen Ensembl |
|
|
rs1045930570 CA360973076 |
325 | A>P | No |
ClinGen gnomAD |
|
|
rs1045930570 CA127284268 |
325 | A>T | No |
ClinGen gnomAD |
|
|
rs1454744552 CA360973086 |
326 | P>L | No |
ClinGen gnomAD |
|
|
rs1315998224 CA360973090 |
327 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1315998224 CA360973088 |
327 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382419182 CA360973102 |
328 | S>F | No |
ClinGen gnomAD |
|
|
CA127284756 rs1050189401 |
336 | V>F | No |
ClinGen TOPMed |
|
|
rs773880710 CA3406774 |
337 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs763875512 CA3406773 |
337 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270943368 CA360973184 |
339 | M>T | No |
ClinGen gnomAD |
|
|
CA360973194 rs1371504711 |
340 | Q>R | No |
ClinGen TOPMed |
|
|
CA3406776 rs113053342 |
342 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113053342 CA3406775 |
342 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1202181807 CA360973217 |
343 | C>* | No |
ClinGen TOPMed |
|
|
CA3406777 rs754169827 |
343 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558879471 CA3406778 |
345 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765718590 CA3406779 |
345 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs182870915 CA3406780 |
346 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360973246 rs1267572677 |
348 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1267572677 CA360973247 |
348 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1346094240 CA360973258 |
349 | M>I | No |
ClinGen gnomAD |
|
|
CA360973253 rs1195817677 |
349 | M>V | No |
ClinGen TOPMed |
|
|
CA360973265 rs1399799247 |
350 | Q>R | No |
ClinGen gnomAD |
|
|
rs1267944542 CA360973270 |
351 | Q>E | No |
ClinGen TOPMed |
|
|
CA3406783 rs747214441 |
354 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1364908842 CA360973313 |
357 | S>* | No |
ClinGen gnomAD |
|
|
rs115198828 CA3406784 |
357 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360973346 rs1316823301 |
362 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360973363 rs1329482862 |
364 | F>L | No |
ClinGen TOPMed |
|
|
CA127284842 rs558681312 |
364 | F>S | No |
ClinGen TOPMed |
|
|
CA127284852 rs1016120286 |
369 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1016120286 CA360973392 |
369 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360973391 rs1016120286 |
369 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360973397 rs1293717342 |
370 | N>E | No |
ClinGen gnomAD |
No associated diseases with Q6ZMN8
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
1 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mitotic cell cycle phase transition | The cell cycle process by which a cell commits to entering the next mitotic cell cycle phase. |
| 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. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39963 | CCNB3 | G2/mitotic-specific cyclin-B3 | Gallus gallus (Chicken) | PR |
| P24864 | CCNE1 | G1/S-specific cyclin-E1 | Homo sapiens (Human) | 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 |
| Q0JIF2 | CYCB1-1 | Cyclin-B1-1 | Oryza sativa subsp japonica (Rice) | PR |
| Q10PQ9 | SDS | Cyclin-SDS-like | Oryza sativa subsp japonica (Rice) | PR |
| Q10QA2 | CYCD5-3 | Cyclin-D5-3 | Oryza sativa subsp japonica (Rice) | PR |
| Q1PFW3 | SDS | Cyclin-SDS | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48790 | CYCB1-4 | Cyclin-B1-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SN11 | CYCD3-3 | Cyclin-D3-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0WQN9 | CYCD4-2 | Cyclin-D4-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZM0 | CYCD7-1 | Putative cyclin-D7-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LGA1 | CYCD4-1 | Cyclin-D4-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGAQLPPQ | PSSSEVSAVQ | SPGGRPGAGL | EETALGVPLP | PSPGEAPLPR | SNRSRCPGTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QPGAASLHAA | SAAVPVRPRR | GTAPAGKTAD | AVPAAAPEQA | PRPAPQSRKP | RNLEGDLDER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLLCHLQLAQ | DREARLWRGG | KPQDEICDAF | EEVVLWLLRL | QNTFYFSQST | FNLALTIFGR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLISVKVKEK | YLHCATITSL | RLAAKVNEEE | EFIPQVKDFT | KHYGSDYSPN | ELLRMELAIL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DRLHWDLYIG | TPLDFLTIFH | ALVVLSWPHV | LELLPQRNPS | LHVASLTRQL | QHCMAGHQLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QFKGSTLALV | IITLELERLM | PGWCAPISDL | LKKAQVGDMQ | YSCCKELVMQ | QLRSLQSSSC |
| TDNFVSPAN |