Q02156
SS
Gene name |
PRKCE (PKCE) |
Protein name |
Protein kinase C epsilon type |
Names |
EC 2.7.11.13 , nPKC-epsilon |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5581 |
EC number |
2.7.11.13: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
Akt is a serine/threonine kinase that belongs to a group of proteins called the AGC superfamily. It is involved in various biological responses through the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway. Akt2, in particular, is regulated by different regions of the protein.<br>The N-terminal PH domain of Akt2 plays a regulatory role in its activation. Phosphorylation of Ser474 in the C-terminal regulatory domain is also necessary for full activation of Akt2. These modifications help activate the kinase and enable it to carry out its functions.<br>The linker region between the N-lobe and C-lobe of Akt2 occupies the ATP binding site. Additionally, the activation loop within Akt2 aids in autoinhibition by blocking the binding of peptide substrates, while still allowing access to the ATP binding site.
Autoinhibitory domains (AIDs)
Target domain |
354-737 (Kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
549-572 (Activation loop from InterPro)
Target domain |
408-668 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
549-572 (Activation loop from InterPro)
Target domain |
408-668 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Huang X et al. (2003) "Crystal structure of an inactive Akt2 kinase domain", Structure (London, England : 1993), 11, 21-30
- Truebestein L et al. (2021) "Structure of autoinhibited Akt1 reveals mechanism of PIP(3)-mediated activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Lučić I et al. (2018) "Conformational sampling of membranes by Akt controls its activation and inactivation", Proceedings of the National Academy of Sciences of the United States of America, 115, E3940-E3949
Autoinhibited structure
Activated structure
3 structures for Q02156
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2WH0 | X-ray | 225 A | Q/R | 342-372 | PDB |
| 5LIH | X-ray | 325 A | F/G | 149-164 | PDB |
| AF-Q02156-F1 | Predicted | AlphaFoldDB |
401 variants for Q02156
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 6 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346806412 rs1476120417 |
10 | I>V | No |
ClinGen gnomAD |
|
|
CA346806441 rs1553369874 |
14 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 17 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748113490 CA1643750 |
19 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1643755 rs776771757 |
25 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759740746 CA1643756 |
26 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770090330 CA1643757 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1643760 rs764740581 |
31 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1643759 rs536386524 |
31 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752108942 CA1643761 |
33 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765856949 CA1643763 |
34 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346806598 rs1345511001 |
39 | D>H | No |
ClinGen gnomAD |
|
|
CA346806607 rs1324772831 |
40 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1643765 rs61762792 |
43 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752535470 CA1643767 |
49 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs764962119 CA1643766 |
49 | S>P | No |
ClinGen ExAC |
|
|
CA346806675 rs752535470 |
49 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA47088572 rs866552500 |
52 | G>D | No |
ClinGen gnomAD |
|
|
rs866552500 CA346806709 |
52 | G>V | No |
ClinGen gnomAD |
|
|
rs1195168657 CA346806751 |
56 | T>I | No |
ClinGen gnomAD |
|
|
CA346806790 rs1395263160 |
59 | K>R | No |
ClinGen gnomAD |
|
|
CA346806817 rs1158289181 |
61 | N>S | No |
ClinGen gnomAD |
|
|
CA47088573 rs907068009 |
62 | S>N | No |
ClinGen TOPMed |
|
|
CA346806847 rs1383451769 |
64 | A>T | No |
ClinGen gnomAD |
|
|
rs1226690363 CA346806854 |
64 | A>V | No |
ClinGen gnomAD |
|
|
rs1403008214 CA346806875 |
66 | H>Q | No |
ClinGen gnomAD |
|
|
rs370692952 CA47088575 |
67 | D>E | No |
ClinGen ESP |
|
|
rs1321799222 CA346806877 |
67 | D>Y | No |
ClinGen gnomAD |
|
|
rs1393882807 CA346806924 |
70 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746931927 CA1643770 |
72 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1643772 rs781295699 |
74 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs770107040 CA1643774 |
78 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA346807022 rs1352570045 |
78 | K>M | No |
ClinGen gnomAD |
|
|
CA346807080 rs1466771376 |
86 | D>E | No |
ClinGen gnomAD |
|
|
CA346807086 rs1214975544 |
87 | A>V | No |
ClinGen gnomAD |
|
|
CA346807087 rs1267621300 |
88 | P>S | No |
ClinGen gnomAD |
|
|
rs775012697 CA1643778 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA346807169 rs1459969276 |
99 | T>I | No |
ClinGen gnomAD |
|
|
CA1643780 rs765836867 |
99 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 99 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167109151 CA346807199 |
103 | E>D | No |
ClinGen gnomAD |
|
|
CA1643781 rs776156915 |
107 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA346807232 rs1465483189 |
108 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346807244 rs1410156178 |
110 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346807253 rs1332509436 |
111 | R>L | No |
ClinGen gnomAD |
|
|
CA1643783 rs764979167 |
115 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346806804 rs1392273881 |
124 | R>S | No |
ClinGen gnomAD |
|
|
rs1488520108 CA346806906 |
131 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346806944 rs1467365418 |
133 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346806942 rs1467365418 |
133 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1643810 rs754144461 |
134 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297022354 CA346806966 COSM442947 |
135 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1643813 rs181734185 |
136 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346806970 rs181734185 |
136 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346807679 rs1297223009 |
139 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771932545 CA1643840 |
140 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA47132430 rs370312689 |
143 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772834505 CA1643841 COSM32963 VAR_035466 |
143 | E>K | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA346807716 rs1232767035 |
144 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760523978 CA1643842 |
144 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144454815 CA1643843 |
145 | R>C | Variant assessed as Somatic; 8.557e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1643844 rs776704604 |
145 | R>H | Variant assessed as Somatic; 8.559e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1232470131 CA346807748 |
149 | E>D | No |
ClinGen gnomAD |
|
|
rs765170809 CA1643846 |
150 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752964225 CA1643847 COSM48690 |
150 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752964225 CA1643848 |
150 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1643851 rs199790008 |
152 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751913256 CA1643850 |
152 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405418536 CA346807769 |
153 | P>L | No |
ClinGen gnomAD |
|
|
CA1643852 rs781709485 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA346807782 rs1352359034 |
155 | K>R | No |
ClinGen gnomAD |
|
|
CA346807787 rs1470650959 |
156 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1574085961 CA346807795 |
157 | Q>R | No |
ClinGen Ensembl |
|
| rs869061504 | 159 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 159 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 159 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346807811 rs1414785255 |
160 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747860089 CA1643856 |
162 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs950818717 CA47132434 |
164 | V>G | No |
ClinGen Ensembl |
|
|
rs1272568148 CA346807849 |
166 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47132435 rs983848526 |
167 | V>G | No |
ClinGen Ensembl |
|
|
CA346807865 rs1574086081 |
168 | N>T | No |
ClinGen Ensembl |
|
|
rs1275178273 CA346807872 |
169 | G>D | No |
ClinGen gnomAD |
|
|
CA1643859 rs571523668 |
169 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346807911 rs1225886287 |
174 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1225886287 CA346807912 |
174 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs866148370 CA47132436 |
177 | L>F | No |
ClinGen Ensembl |
|
|
rs966862357 CA346807934 |
178 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA346807957 rs1472857456 |
181 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766862275 CA1643892 |
193 | V>F | No |
ClinGen ExAC |
|
|
CA346808070 rs1276454009 |
195 | G>A | No |
ClinGen gnomAD |
|
|
rs1345446290 CA346808113 |
201 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957679933 CA47132964 |
207 | V>M | No |
ClinGen TOPMed |
|
|
rs570929334 CA1643920 |
208 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346808193 rs1338273606 |
211 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47132965 rs774811515 |
215 | L>F | No |
ClinGen Ensembl |
|
|
rs1273011220 CA346808231 |
216 | I>T | No |
ClinGen gnomAD |
|
|
rs1466676036 CA346808235 |
217 | I>V | No |
ClinGen TOPMed |
|
|
rs372792564 CA1643925 |
226 | Q>H | No |
ClinGen ESP ExAC |
|
|
rs773434296 CA1643924 |
226 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346808301 rs1422166578 |
226 | Q>R | No |
ClinGen gnomAD |
|
|
rs1189642073 CA346808308 |
227 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1643927 rs777002359 |
228 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA47132966 rs933993732 |
228 | T>S | No |
ClinGen Ensembl |
|
|
rs1308958497 CA346808318 |
229 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1643929 rs765882131 |
230 | D>E | No |
ClinGen ExAC |
|
|
rs1372235727 CA346808322 |
230 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776131358 COSM361209 CA1643930 |
231 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA346808364 rs1574116937 |
234 | S>Y | No |
ClinGen Ensembl |
|
|
rs1320927580 CA346808377 |
236 | R>Q | No |
ClinGen TOPMed |
|
|
rs1250155041 CA346808394 |
238 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757276934 CA1643960 |
241 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA346808418 rs1433761543 |
242 | P>T | No |
ClinGen TOPMed |
|
|
rs770318085 CA346808451 |
246 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746022435 CA1643962 COSM268443 |
246 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1643963 rs770318085 |
246 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388726033 CA346808454 |
247 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1388726033 CA346808453 |
247 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346808472 rs1457130427 |
249 | N>S | No |
ClinGen gnomAD |
|
|
rs760292238 CA1643968 |
258 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346808557 rs1329893766 |
261 | S>Y | No |
ClinGen gnomAD |
|
|
CA346808584 rs1210254842 |
265 | G>A | No |
ClinGen TOPMed |
|
|
CA47133577 rs924773684 |
266 | L>P | No |
ClinGen TOPMed |
|
|
CA346808600 rs1184220025 COSM267864 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA346808599 rs759149125 |
268 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA346808618 rs1404195027 |
271 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47135878 rs904855630 |
282 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1644006 rs372163409 |
282 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248666676 CA346804883 |
283 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1644007 rs562877061 |
285 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375525974 CA1644008 |
286 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1644010 rs748855513 |
290 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574180397 CA346804930 |
291 | N>H | No |
ClinGen Ensembl |
|
|
rs950073404 CA47135880 |
293 | G>E | No |
ClinGen Ensembl |
|
|
CA346804969 rs1574180447 |
296 | A>G | No |
ClinGen Ensembl |
|
|
CA47135882 rs1009284111 |
301 | K>R | No |
ClinGen TOPMed |
|
|
CA346805008 rs1574180528 |
302 | V>G | No |
ClinGen Ensembl |
|
|
CA346805023 rs1217458277 |
305 | D>Y | Variant assessed as Somatic; 8.565e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1574180599 CA346805032 |
306 | L>P | No |
ClinGen Ensembl |
|
|
rs761639222 CA1644013 |
308 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760852796 CA1644016 |
314 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284783378 CA346805089 |
315 | N>S | No |
ClinGen TOPMed |
|
|
CA1644019 rs755105893 |
317 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644020 rs755105893 |
317 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427785856 CA346805115 |
319 | R>K | No |
ClinGen gnomAD |
|
|
rs1286328414 CA346805156 |
323 | L>V | No |
ClinGen gnomAD |
|
|
CA1644037 rs759628868 |
327 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752947620 CA1644039 |
328 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1644041 rs764404950 |
330 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211257482 CA346805199 |
330 | P>S | No |
ClinGen gnomAD |
|
|
rs752085950 CA1644042 |
332 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644043 rs55989965 VAR_042307 |
333 | A>V | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
| TCGA novel | 334 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439639042 CA346805246 |
337 | S>L | No |
ClinGen gnomAD |
|
|
rs754499080 CA1644046 |
339 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778444844 CA1644047 |
342 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs747771090 CA1644048 |
343 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs575191825 CA346805283 |
343 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575191825 CA1644049 |
343 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543962581 CA346805296 |
345 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1391882478 CA346805322 |
350 | S>P | No |
ClinGen gnomAD |
|
|
CA346805325 rs1333000604 |
350 | S>Y | No |
ClinGen gnomAD |
|
|
CA346805339 rs1315247451 |
352 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346805414 rs1239559919 |
360 | E>D | No |
ClinGen gnomAD |
|
|
CA1644071 rs770831489 |
361 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA47136646 rs1021067534 |
361 | N>T | No |
ClinGen TOPMed |
|
|
CA346805430 rs377738383 |
363 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470679952 CA346805435 |
363 | I>M | No |
ClinGen gnomAD |
|
|
rs377738383 CA1644072 |
363 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1644074 rs769788896 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745748020 CA1644073 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455355273 CA346805440 |
365 | K>E | No |
ClinGen gnomAD |
|
|
CA346805450 rs1364552766 |
366 | A>G | No |
ClinGen gnomAD |
|
|
rs775690980 CA1644075 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346805459 rs1558951149 |
368 | S>T | No |
ClinGen Ensembl |
|
|
CA346805468 rs1301202682 |
369 | F>Y | No |
ClinGen gnomAD |
|
|
rs1329915953 CA346805486 |
371 | N>S | No |
ClinGen gnomAD |
|
|
rs1225882041 CA346805489 |
372 | R>G | No |
ClinGen gnomAD |
|
|
COSM48691 rs1284044655 CA346805491 |
372 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA47136647 rs778652349 |
373 | G>V | No |
ClinGen Ensembl |
|
|
CA1644079 rs774543192 |
377 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774543192 CA1644078 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346805524 rs1262668088 |
377 | R>W | No |
ClinGen gnomAD |
|
|
CA47136648 rs761193718 |
379 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644082 rs761193718 |
379 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644083 rs766773185 |
379 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471296586 CA346805539 |
380 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1644085 rs757977090 |
381 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763892538 CA47136650 |
382 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644086 rs763892538 |
382 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751195190 CA1644087 |
383 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919285181 CA47136651 |
384 | G>A | No |
ClinGen TOPMed |
|
|
rs1364069630 CA346805559 |
384 | G>S | No |
ClinGen gnomAD |
|
|
CA1644088 rs76794341 |
388 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55767130 CA346805595 |
389 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_042308 rs55767130 CA1644089 |
389 | P>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1317812827 CA346805599 |
390 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346805597 rs756120190 |
390 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1644091 rs756120190 |
390 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1244330646 CA346805601 |
391 | E>K | No |
ClinGen gnomAD |
|
|
rs564684748 CA1644094 |
394 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774561622 CA1644095 |
396 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1195797422 CA346805637 |
396 | R>W | No |
ClinGen TOPMed |
|
|
rs748331807 CA1644096 |
398 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs748331807 CA346805648 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1260447194 CA346805665 |
400 | A>D | No |
ClinGen TOPMed |
|
|
rs772347149 CA1644097 |
402 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1644098 rs773673004 |
402 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346805677 rs773673004 |
402 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644099 rs773673004 |
402 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747827782 CA47136655 |
406 | D>N | No |
ClinGen Ensembl |
|
|
rs777265139 CA1644101 |
406 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1644102 rs762562237 |
407 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs77951226 CA1644103 |
409 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751285147 CA1644104 |
409 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs896389267 CA47136656 |
412 | K>E | No |
ClinGen TOPMed |
|
|
CA346805738 rs1440636636 |
412 | K>T | No |
ClinGen gnomAD |
|
|
rs1260510298 CA346805743 |
413 | V>M | No |
ClinGen TOPMed |
|
|
CA1644105 rs756883396 |
416 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371809831 CA1644130 |
423 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346805824 rs1408348010 |
423 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 427 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758391020 CA1644131 |
427 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346805864 rs1432549928 |
428 | K>N | No |
ClinGen gnomAD |
|
|
rs1343244492 CA346805862 |
428 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747132781 CA1644133 |
430 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771452653 CA1644134 |
431 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1644135 rs781647297 |
432 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344652659 CA346805913 |
436 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753671660 CA1644144 COSM1021154 |
443 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 448 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158706327 CA346806014 |
450 | V>M | No |
ClinGen gnomAD |
|
|
rs200955184 CA1644147 |
451 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433969896 CA346806042 |
454 | M>V | No |
ClinGen TOPMed |
|
|
CA47136975 rs988291214 |
459 | I>M | No |
ClinGen TOPMed |
|
|
rs1349062225 CA346806092 |
461 | A>T | No |
ClinGen gnomAD |
|
|
CA1644150 rs539391725 |
464 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1644151 rs373332822 |
464 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346806109 rs539391725 |
464 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1426779992 CA346806133 |
467 | P>L | No |
ClinGen TOPMed |
|
|
CA1644152 rs781562735 |
467 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022914809 CA47136977 |
468 | Y>F | No |
ClinGen TOPMed |
|
|
rs1243127095 CA346806163 |
472 | L>F | No |
ClinGen TOPMed |
|
|
CA1644157 rs771638100 |
474 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644156 rs749723199 |
474 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346806192 rs1220942470 |
476 | F>Y | No |
ClinGen gnomAD |
|
|
rs77678548 CA47136978 |
478 | T>S | No |
ClinGen Ensembl |
|
|
rs1204342282 CA346806212 |
479 | K>Q | No |
ClinGen TOPMed |
|
|
rs1574432898 CA346807314 |
480 | D>A | No |
ClinGen Ensembl |
|
|
rs200783710 CA47146860 |
480 | D>N | No |
ClinGen 1000Genomes |
|
|
rs377213484 CA1644214 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1644215 rs558301002 |
481 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs558301002 CA346807321 |
481 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1267193829 CA346807324 |
482 | L>F | No |
ClinGen gnomAD |
|
|
CA346807330 rs1177040451 |
483 | F>L | No |
ClinGen TOPMed |
|
|
CA47146861 rs867371505 |
484 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1644217 rs750000109 |
485 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1334280073 CA346807370 |
488 | Y>C | No |
ClinGen TOPMed |
|
|
rs1486045366 CA346807374 |
489 | V>I | No |
ClinGen gnomAD |
|
|
CA1644218 rs755593871 |
490 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 493 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346807439 rs1331198814 |
498 | I>V | No |
ClinGen TOPMed |
|
|
rs1304555744 CA346807455 |
500 | R>C | No |
ClinGen TOPMed |
|
|
rs748930507 CA1644220 |
500 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778903736 CA1644222 |
502 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747925548 CA1644223 |
505 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644224 rs772204990 |
506 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1644225 rs773271544 |
507 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644226 rs773271544 |
507 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346807503 rs1393087603 |
508 | R>C | No |
ClinGen TOPMed |
|
|
CA1644227 rs74990336 |
510 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346807515 rs1407286859 |
510 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV001198560 CA346807524 rs765421914 |
511 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1644229 rs759750884 |
511 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1644233 rs764641910 |
516 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA47146862 rs957147236 |
517 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs75624882 CA1644234 COSM298774 |
518 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1178577615 CA346807584 |
521 | M>T | No |
ClinGen gnomAD |
|
|
rs1143691 CA346807612 |
524 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA47146863 rs1039893437 |
526 | H>Y | No |
ClinGen Ensembl |
|
|
CA346807632 rs1258913083 |
527 | G>E | No |
ClinGen TOPMed |
|
|
rs778707122 CA1644239 |
529 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462948372 CA346808747 |
543 | E>Q | No |
ClinGen gnomAD |
|
|
CA346808761 rs1305695972 |
545 | H>D | No |
ClinGen TOPMed |
|
|
CA1644268 rs372485088 |
546 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346808852 rs1424457375 |
557 | G>E | No |
ClinGen gnomAD |
|
|
rs1312604129 CA346808875 |
561 | G>S | No |
ClinGen TOPMed |
|
|
rs1451501804 CA346808879 |
561 | G>V | No |
ClinGen TOPMed |
|
|
CA47154472 rs763000434 |
562 | V>M | No |
ClinGen Ensembl |
|
|
VAR_042309 CA1644273 rs34077350 |
563 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764797858 CA1644277 |
565 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748562237 CA1644290 |
578 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs771538481 CA1644294 |
586 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576600661 CA1644297 |
592 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1574606888 CA346809119 |
595 | V>G | No |
ClinGen Ensembl |
|
|
CA1644298 rs751112970 |
597 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1553363925 RCV000523596 CA346809141 |
599 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1179096460 CA346809169 |
602 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1644300 rs767169103 |
603 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346809225 rs1250330005 |
610 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 610 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 612 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 612 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955990200 CA47155167 |
613 | D>V | No |
ClinGen Ensembl |
|
|
rs1574607036 CA346809260 |
615 | L>V | No |
ClinGen Ensembl |
|
|
CA1644306 rs754958846 |
623 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1644304 rs774629128 |
623 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346809321 rs1310509472 |
624 | V>M | No |
ClinGen gnomAD |
|
|
CA1644307 rs748275197 |
626 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA47155169 rs778840515 |
627 | P>A | No |
ClinGen Ensembl |
|
|
CA47155170 rs969718785 |
628 | V>F | No |
ClinGen Ensembl |
|
|
rs1574607171 CA346809393 |
634 | A>V | No |
ClinGen Ensembl |
|
|
rs772506210 CA1644308 |
636 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1644342 rs746319284 |
643 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1446404436 CA346809487 |
646 | P>S | No |
ClinGen gnomAD |
|
|
CA346809485 rs1446404436 |
646 | P>T | No |
ClinGen gnomAD |
|
|
rs747691198 CA1644345 |
647 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199622971 CA1644344 |
647 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771680739 CA1644346 |
651 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1644348 VAR_050559 RCV000961400 rs35777875 |
654 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs917287747 CA47156188 COSM1021158 |
655 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1644350 rs776568801 |
656 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038171753 CA47156190 |
656 | Q>P | No |
ClinGen Ensembl |
|
|
rs1342461880 CA346809555 |
657 | N>S | No |
ClinGen gnomAD |
|
|
rs1282715106 CA346809565 |
659 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346809576 rs1321719130 |
660 | D>G | No |
ClinGen gnomAD |
|
|
CA47156191 rs936054894 |
660 | D>H | No |
ClinGen TOPMed |
|
|
CA346809582 rs758489766 |
661 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs370654499 CA1644353 |
661 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758489766 CA1644354 |
661 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346809598 rs571168471 |
663 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200660975 CA1644356 |
664 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 667 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 669 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1644358 rs781724228 |
671 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs891028429 CA47156192 |
672 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1644360 rs756649262 |
681 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644361 rs375195421 |
682 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA346809772 rs1363074103 |
688 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780881206 CA1644384 |
692 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47159327 rs760248499 |
695 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346809874 rs1312749028 |
700 | Q>E | No |
ClinGen gnomAD |
|
|
CA1644385 rs745661580 |
701 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775321308 CA1644387 |
704 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1250265961 CA346809902 |
704 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1644390 rs774638997 |
708 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1644392 rs767867302 |
710 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1644393 rs372429367 |
711 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1574699705 CA346809945 |
711 | L>P | No |
ClinGen Ensembl |
|
|
CA47159328 rs372429367 |
711 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346809950 rs1464285768 |
712 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346809951 rs1464285768 |
712 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs199755252 CA346809947 |
712 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1644394 rs199755252 |
712 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346809958 rs552161849 |
713 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755515582 CA1644397 |
714 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1644396 rs201250848 |
714 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346809960 rs201250848 |
714 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751125974 CA1644399 |
715 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779384761 CA1644398 |
715 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346809969 rs751125974 |
715 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294256395 CA346810015 |
722 | Q>E | No |
ClinGen gnomAD |
|
|
CA1644400 rs369626182 |
723 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 724 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1644401 rs780711112 |
726 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1644402 rs745492152 |
727 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs745492152 CA47159329 |
727 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1399624263 CA346810052 |
727 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 728 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1644403 rs769499415 |
730 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1644404 rs779947914 |
732 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1644405 rs749092183 |
732 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 733 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484553222 CA346810098 |
734 | D>H | No |
ClinGen gnomAD |
|
|
CA1644406 rs768772518 |
736 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA346810120 rs1261168633 |
737 | P>S | No |
ClinGen gnomAD |
No associated diseases with Q02156
4 regional properties for Q02156
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.13 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell periphery | The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. |
| 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| 14-3-3 protein binding | Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections |
| actin monomer binding | Binding to monomeric actin, also known as G-actin. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diacylglycerol-dependent serine/threonine kinase activity | Catalysis of the reaction |
| diacylglycerol-dependent, calcium-independent serine/threonine kinase activity | Catalysis of the reaction |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| ethanol binding | Binding to ethanol, CH(3)-CH(2)-OH. |
| metal ion binding | Binding to a metal ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| signaling receptor activator activity | The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. |
41 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| 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. |
| cell-substrate adhesion | The attachment of a cell to the underlying substrate via adhesion molecules. |
| cellular response to ethanol | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| cellular response to hypoxia | Any process that results in 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 lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to prostaglandin E stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a prostagladin E stimulus. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
| insulin secretion | The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| lipopolysaccharide-mediated signaling pathway | The series of molecular signals initiated by the binding of a lipopolysaccharide (LPS) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Lipopolysaccharides are major components of the outer membrane of Gram-negative bacteria, making them prime targets for recognition by the immune system. |
| locomotory exploration behavior | The specific movement from place to place of an organism in response to a novel environment. |
| macrophage activation involved in immune response | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers |
| mucus secretion | The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. |
| negative regulation of protein ubiquitination | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| negative regulation of sodium ion transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transporter activity. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
| positive regulation of canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of cell-substrate adhesion | Any process that increases 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. |
| positive regulation of cellular glucuronidation | Any process that activates or increases the frequency, rate or extent of cellular glucuronidation. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
| positive regulation of fibroblast migration | Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of lipid catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of mucus secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| positive regulation of synaptic transmission, GABAergic | Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
| positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of insulin secretion involved in cellular response to glucose stimulus | Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
| regulation of peptidyl-tyrosine phosphorylation | Any process that modulates the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| regulation of release of sequestered calcium ion into cytosol | Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria. |
| response to morphine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| synaptic transmission, GABAergic | The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| TRAM-dependent toll-like receptor 4 signaling pathway | The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TRAM adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P24583 | PKC1 | Protein kinase C-like 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | SS |
| A1A4I4 | PKN1 | Serine/threonine-protein kinase N1 | Bos taurus (Bovine) | SS |
| P05126 | PRKCB | Protein kinase C beta type | Bos taurus (Bovine) | SS |
| A1Z7T0 | Pkn | Serine/threonine-protein kinase N | Drosophila melanogaster (Fruit fly) | SS |
| P83099 | Pkcdelta | Putative protein kinase C delta type homolog | Drosophila melanogaster (Fruit fly) | PR |
| P05130 | Pkc53E | Protein kinase C, brain isozyme | Drosophila melanogaster (Fruit fly) | SS |
| P13677 | inaC | Protein kinase C, eye isozyme | Drosophila melanogaster (Fruit fly) | SS |
| Q96LW2 | RSKR | Ribosomal protein S6 kinase-related protein | Homo sapiens (Human) | PR |
| Q6P5Z2 | PKN3 | Serine/threonine-protein kinase N3 | Homo sapiens (Human) | SS |
| O15530 | PDPK1 | 3-phosphoinositide-dependent protein kinase 1 | Homo sapiens (Human) | EV |
| Q05513 | PRKCZ | Protein kinase C zeta type | Homo sapiens (Human) | SS |
| P41743 | PRKCI | Protein kinase C iota type | Homo sapiens (Human) | EV |
| Q16512 | PKN1 | Serine/threonine-protein kinase N1 | Homo sapiens (Human) | EV |
| Q16513 | PKN2 | Serine/threonine-protein kinase N2 | Homo sapiens (Human) | EV |
| P24723 | PRKCH | Protein kinase C eta type | Homo sapiens (Human) | SS |
| Q04759 | PRKCQ | Protein kinase C theta type | Homo sapiens (Human) | PR |
| Q05655 | PRKCD | Protein kinase C delta type | Homo sapiens (Human) | SS |
| P17252 | PRKCA | Protein kinase C alpha type | Homo sapiens (Human) | EV |
| P05129 | PRKCG | Protein kinase C gamma type | Homo sapiens (Human) | SS |
| P05771 | PRKCB | Protein kinase C beta type | Homo sapiens (Human) | SS |
| P31751 | AKT2 | RAC-beta serine/threonine-protein kinase | Homo sapiens (Human) | EV SS |
| P31749 | AKT1 | RAC-alpha serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| Q9Y243 | AKT3 | RAC-gamma serine/threonine-protein kinase | Homo sapiens (Human) | SS |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
| O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
| Q15208 | STK38 | Serine/threonine-protein kinase 38 | Homo sapiens (Human) | EV |
| Q9Y2H1 | STK38L | Serine/threonine-protein kinase 38-like | Homo sapiens (Human) | EV |
| Q6A1A2 | PDPK2P | Putative 3-phosphoinositide-dependent protein kinase 2 | Homo sapiens (Human) | PR |
| P70268 | Pkn1 | Serine/threonine-protein kinase N1 | Mus musculus (Mouse) | SS |
| Q02111 | Prkcq | Protein kinase C theta type | Mus musculus (Mouse) | PR |
| Q8BWW9 | Pkn2 | Serine/threonine-protein kinase N2 | Mus musculus (Mouse) | SS |
| Q8K045 | Pkn3 | Serine/threonine-protein kinase N3 | Mus musculus (Mouse) | SS |
| P28867 | Prkcd | Protein kinase C delta type | Mus musculus (Mouse) | PR |
| P16054 | Prkce | Protein kinase C epsilon type | Mus musculus (Mouse) | PR |
| P23298 | Prkch | Protein kinase C eta type | Mus musculus (Mouse) | PR |
| P63318 | Prkcg | Protein kinase C gamma type | Mus musculus (Mouse) | SS |
| P68404 | Prkcb | Protein kinase C beta type | Mus musculus (Mouse) | SS |
| Q63433 | Pkn1 | Serine/threonine-protein kinase N1 | Rattus norvegicus (Rat) | SS |
| P09215 | Prkcd | Protein kinase C delta type | Rattus norvegicus (Rat) | PR |
| O08874 | Pkn2 | Serine/threonine-protein kinase N2 | Rattus norvegicus (Rat) | SS |
| Q64617 | Prkch | Protein kinase C eta type | Rattus norvegicus (Rat) | PR |
| P63319 | Prkcg | Protein kinase C gamma type | Rattus norvegicus (Rat) | SS |
| P09216 | Prkce | Protein kinase C epsilon type | Rattus norvegicus (Rat) | PR |
| P34722 | tpa-1 | Protein kinase C-like 1 | Caenorhabditis elegans | PR |
| P90980 | pkc-2 | Protein kinase C-like 2 | Caenorhabditis elegans | SS |
| Q9SUA3 | D6PKL1 | Serine/threonine-protein kinase D6PKL1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A7MBL8 | pkn2 | Serine/threonine-protein kinase N2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY24 | prkcbb | Protein kinase C beta type | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVVFNGLLKI | KICEAVSLKP | TAWSLRHAVG | PRPQTFLLDP | YIALNVDDSR | IGQTATKQKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NSPAWHDEFV | TDVCNGRKIE | LAVFHDAPIG | YDDFVANCTI | QFEELLQNGS | RHFEDWIDLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEGRVYVIID | LSGSSGEAPK | DNEERVFRER | MRPRKRQGAV | RRRVHQVNGH | KFMATYLRQP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TYCSHCRDFI | WGVIGKQGYQ | CQVCTCVVHK | RCHELIITKC | AGLKKQETPD | QVGSQRFSVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MPHKFGIHNY | KVPTFCDHCG | SLLWGLLRQG | LQCKVCKMNV | HRRCETNVAP | NCGVDARGIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KVLADLGVTP | DKITNSGQRR | KKLIAGAESP | QPASGSSPSE | EDRSKSAPTS | PCDQEIKELE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NNIRKALSFD | NRGEEHRAAS | SPDGQLMSPG | ENGEVRQGQA | KRLGLDEFNF | IKVLGKGSFG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KVMLAELKGK | DEVYAVKVLK | KDVILQDDDV | DCTMTEKRIL | ALARKHPYLT | QLYCCFQTKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLFFVMEYVN | GGDLMFQIQR | SRKFDEPRSR | FYAAEVTSAL | MFLHQHGVIY | RDLKLDNILL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DAEGHCKLAD | FGMCKEGILN | GVTTTTFCGT | PDYIAPEILQ | ELEYGPSVDW | WALGVLMYEM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MAGQPPFEAD | NEDDLFESIL | HDDVLYPVWL | SKEAVSILKA | FMTKNPHKRL | GCVASQNGED |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AIKQHPFFKE | IDWVLLEQKK | IKPPFKPRIK | TKRDVNNFDQ | DFTREEPVLT | LVDEAIVKQI |
| 730 | |||||
| NQEEFKGFSY | FGEDLMP |