P07093
PR
Gene name |
SERPINE2 (PI7, PN1) |
Protein name |
Glia-derived nexin |
Names |
GDN, Peptidase inhibitor 7, PI-7, Protease nexin 1, PN-1, Protease nexin I, Serpin E2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5270 |
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
3 structures for P07093
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4DY0 | X-ray | 235 A | A/B | 20-398 | PDB |
| 4DY7 | X-ray | 280 A | C/F | 20-398 | PDB |
| AF-P07093-F1 | Predicted | AlphaFoldDB |
286 variants for P07093
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351127588 rs1440188753 |
2 | N>S | No |
ClinGen gnomAD |
|
|
rs750680619 CA66490370 |
3 | W>* | No |
ClinGen Ensembl |
|
|
rs750680619 CA351127566 |
3 | W>C | No |
ClinGen Ensembl |
|
|
rs1574829951 CA351127564 |
4 | H>Y | No |
ClinGen Ensembl |
|
|
CA351127528 rs560021887 |
7 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560021887 CA2139513 |
7 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764371762 CA66490369 |
8 | F>L | No |
ClinGen Ensembl |
|
|
CA2139512 rs368053492 |
8 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770021482 CA2139511 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs770021482 CA351127481 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2139510 COSM1591893 COSM1017097 rs373891026 |
14 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs757420721 CA66490367 |
15 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139507 COSM40581 rs368896299 |
16 | P>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351127414 rs1364701637 |
18 | I>T | No |
ClinGen TOPMed |
|
|
rs778968466 CA2139506 |
18 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754873967 CA351127385 |
20 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66490366 rs370304769 |
20 | S>P | No |
ClinGen ESP gnomAD |
|
|
CA2139505 rs754873967 |
20 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749069197 CA2139504 |
22 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2139503 rs144076616 |
23 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351127338 rs1414341507 |
24 | P>S | No |
ClinGen gnomAD |
|
|
rs1559206863 CA351127323 |
26 | S>P | No |
ClinGen Ensembl |
|
|
CA351127300 rs1471795770 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA66490365 rs377330114 |
32 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs767005897 CA2139500 |
34 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751041382 CA2139498 |
36 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955367114 CA66490364 |
38 | V>I | No |
ClinGen Ensembl |
|
|
CA2139496 rs141166054 |
40 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274659435 CA351127127 |
42 | I>T | No |
ClinGen TOPMed |
|
|
rs765749824 CA2139494 |
42 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1017095 rs560184424 COSM1591895 CA2139492 |
45 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1481348475 CA351127047 |
47 | P>A | No |
ClinGen TOPMed |
|
|
CA2139490 rs760781229 |
47 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975424066 CA66490362 |
48 | H>P | No |
ClinGen Ensembl |
|
|
CA351127031 rs1297133283 |
48 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66490361 VAR_051955 rs3795875 |
51 | I>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1325321167 CA351126963 |
51 | I>N | No |
ClinGen gnomAD |
|
|
rs1350225270 CA351126972 |
51 | I>V | No |
ClinGen gnomAD |
|
|
rs1364833292 CA351126949 |
52 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351126955 rs1364833292 |
52 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351126939 rs1169153905 |
53 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1225301 rs769638840 CA2139485 COSM1225302 |
59 | A>V | Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1198008432 CA351126807 |
60 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs756905399 CA2139482 |
60 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA351126811 rs1198008432 |
60 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2139480 rs777172901 |
61 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA66490359 rs11548973 |
62 | L>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34078713 CA2139479 |
64 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351126733 rs1559206708 |
65 | L>I | No |
ClinGen Ensembl |
|
|
rs137962225 CA66490358 |
66 | Q>H | No |
ClinGen ESP |
|
|
rs1275895191 CA351126690 |
67 | L>P | No |
ClinGen gnomAD |
|
|
rs765692891 CA2139478 |
69 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2139477 rs765692891 |
69 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760037493 CA2139476 COSM1225303 COSM1225304 |
69 | A>V | large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351126649 rs760828083 |
70 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139474 rs766666359 |
70 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139472 rs138954857 |
71 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351126645 rs138954857 |
71 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2139471 rs138954857 |
71 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762939421 CA2139470 |
75 | K>* | No |
ClinGen ExAC |
|
|
rs1317492898 CA351126521 |
77 | L>V | No |
ClinGen gnomAD |
|
|
rs769734047 CA2139468 |
78 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351126490 rs1308548783 |
79 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351126472 rs1574829576 |
80 | V>G | No |
ClinGen Ensembl |
|
|
rs536057805 CA2139467 |
80 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759587862 CA2139464 |
84 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351126395 rs1574829544 |
84 | G>V | No |
ClinGen Ensembl |
|
|
rs1189106460 CA351126389 |
85 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1574826415 CA351125376 |
87 | G>E | No |
ClinGen Ensembl |
|
|
CA2139444 rs569599231 |
88 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326826783 CA351125342 |
89 | G>D | No |
ClinGen gnomAD |
|
|
rs1306201727 CA351125289 |
91 | I>M | No |
ClinGen gnomAD |
|
|
rs1412660144 CA351125207 |
95 | I>M | No |
ClinGen TOPMed |
|
|
CA2139443 rs747597085 |
97 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351125119 rs374860468 |
99 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139441 rs755518142 |
100 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66489947 rs952641627 |
107 | I>N | No |
ClinGen TOPMed |
|
|
CA351124970 rs952641627 |
107 | I>T | No |
ClinGen TOPMed |
|
|
CA2139439 rs780561200 |
107 | I>V | No |
ClinGen ExAC |
|
|
CA2139438 rs756488727 |
110 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA66489946 rs1026753737 |
111 | A>T | No |
ClinGen TOPMed |
|
|
CA2139437 rs750809369 |
112 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767565536 CA2139436 |
113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1574826287 CA351124887 |
114 | V>G | No |
ClinGen Ensembl |
|
|
COSM76383 COSM1405856 rs549448679 CA2139434 |
114 | V>M | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs80250480 CA66489945 |
116 | V>F | No |
ClinGen gnomAD |
|
|
rs80250480 CA351124867 |
116 | V>I | No |
ClinGen gnomAD |
|
|
CA2139433 rs764210709 |
117 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759441644 CA2139432 |
118 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759441644 CA66489944 |
118 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450184748 CA351124837 |
118 | N>Y | No |
ClinGen gnomAD |
|
|
CA2139431 rs776620099 |
119 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139430 rs766183421 |
121 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351124753 rs1259982474 |
124 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760330307 CA2139429 COSM1692062 COSM1692063 |
125 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351124739 rs760330307 |
125 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323386193 CA351124709 |
127 | V>G | No |
ClinGen gnomAD |
|
|
CA66489943 rs1025782911 |
129 | R>G | No |
ClinGen Ensembl |
|
|
rs773065520 COSM1017093 CA351124666 COSM1591897 |
130 | N>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773065520 CA2139428 |
130 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41484545 CA66489942 |
135 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351124597 rs1299357014 |
135 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1559204320 CA351124580 |
136 | C>F | No |
ClinGen Ensembl |
|
|
rs11548971 COSM1531134 CA351124588 COSM1531135 |
136 | C>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs11548971 CA66489941 |
136 | C>S | No |
ClinGen TOPMed |
|
|
CA66489940 rs993924445 |
137 | E>D | No |
ClinGen Ensembl |
|
|
CA2139426 rs137914245 |
139 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2139427 rs771586525 |
139 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2139425 rs773966382 |
141 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351124508 rs1405144392 |
142 | N>S | No |
ClinGen TOPMed |
|
|
CA351124497 rs1307583164 |
143 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2139423 rs749800355 |
145 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139421 rs756645831 |
148 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66489938 rs1006691368 |
152 | S>A | No |
ClinGen Ensembl |
|
|
rs1281848930 CA351124311 |
155 | A>V | No |
ClinGen TOPMed |
|
|
CA2139418 rs757400864 |
160 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144110162 CA2139416 |
162 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs758535269 CA2139415 |
163 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2139397 rs571988678 |
167 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350817804 rs1327449063 |
169 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM210181 rs1164433881 CA350817779 |
173 | L>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs896036539 CA65917087 |
174 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2139394 rs779074791 |
176 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752681369 CA2139395 |
176 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326546112 CA350817756 |
177 | V>L | No |
ClinGen TOPMed |
|
|
rs1326546112 CA350817757 |
177 | V>M | No |
ClinGen TOPMed |
|
|
CA2139392 rs750438753 |
181 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139391 rs767199589 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763798124 CA2139388 |
184 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350817711 rs201689138 |
184 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201689138 CA2139389 |
184 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350817713 rs201689138 |
184 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350817699 rs1559200378 |
185 | N>T | No |
ClinGen Ensembl |
|
|
rs1048080122 CA65917049 |
186 | A>T | No |
ClinGen Ensembl |
|
|
CA2139385 rs769388610 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2139384 rs759958034 |
189 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350817637 rs1277431278 |
190 | K>E | No |
ClinGen TOPMed |
|
|
rs931038233 CA65917005 |
190 | K>R | No |
ClinGen TOPMed |
|
|
CA350817627 rs1046071393 |
191 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1046071393 CA65917001 |
191 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2139382 rs771441062 |
196 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368930499 CA2139383 |
196 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs918355276 CA65916979 |
199 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 202 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_036027 | 204 | K>N | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs748439893 CA2139378 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2139376 rs778851444 |
205 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461475289 CA350817431 |
206 | T>A | No |
ClinGen TOPMed |
|
|
rs1469604205 CA350817414 |
207 | F>S | No |
ClinGen gnomAD |
|
|
rs375757013 CA2139374 |
208 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375757013 CA350817401 |
208 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781209525 CA2139373 |
209 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61742368 CA65916948 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA350817377 rs1574819889 |
210 | A>G | No |
ClinGen Ensembl |
|
|
rs141535304 CA65916944 |
211 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141535304 CA2139372 |
211 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141535304 CA350817371 |
211 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2139369 rs200432767 |
212 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139370 rs200432767 |
212 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574819843 CA350817350 |
213 | K>E | No |
ClinGen Ensembl |
|
|
CA350817329 rs1357622711 |
214 | S>F | No |
ClinGen gnomAD |
|
|
CA350817338 rs1574819835 |
214 | S>T | No |
ClinGen Ensembl |
|
|
CA2139368 rs752463334 |
215 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139367 rs764641421 |
216 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA350817289 rs1574819794 |
218 | P>S | No |
ClinGen Ensembl |
|
|
rs1298593564 CA350817229 |
222 | Q>H | No |
ClinGen gnomAD |
|
|
CA2139366 rs759029222 |
224 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2139364 rs766836069 |
225 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760240429 CA65916903 |
226 | F>L | No |
ClinGen gnomAD |
|
|
CA350817186 rs761195431 CA2139363 |
226 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs142288134 CA2139362 |
227 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350817181 rs1204670877 |
227 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1466216106 CA350816053 COSM1591900 COSM1017090 |
230 | S>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2139345 rs140484096 |
231 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2139343 rs200107409 |
232 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139342 rs200107409 |
232 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139341 rs199864365 |
235 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350815885 rs1272553706 |
236 | D>V | No |
ClinGen gnomAD |
|
|
rs749520872 CA2139340 |
238 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1432206719 COSM3426140 COSM3426139 CA350815773 |
241 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1221493467 CA350815742 |
243 | E>A | No |
ClinGen gnomAD |
|
|
CA350815702 rs1308567017 |
247 | H>L | No |
ClinGen gnomAD |
|
|
rs746930910 CA2139337 |
248 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2139336 rs777796522 |
251 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65913053 rs946295262 |
252 | S>R | No |
ClinGen TOPMed |
|
|
rs948972728 CA65913041 |
254 | L>Q | No |
ClinGen Ensembl |
|
|
rs1429143064 CA350815580 |
255 | I>L | No |
ClinGen TOPMed |
|
|
rs1413250718 CA350815524 |
258 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2139330 rs757630998 |
260 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350815453 rs1232420403 |
261 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2139328 rs755560613 |
263 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142141077 CA2139326 |
264 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749936513 CA2139327 |
264 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762249058 CA2139325 |
265 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764404573 CA2139323 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775914764 CA350815292 |
268 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139322 rs763261842 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350815235 rs1334292924 |
270 | P>S | No |
ClinGen gnomAD |
|
|
CA65913007 rs986514257 |
271 | H>R | No |
ClinGen Ensembl |
|
|
CA2139318 rs776882947 |
272 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139319 rs776882947 |
272 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772001820 CA2139316 |
274 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2139315 rs748089179 |
275 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748089179 CA350815117 |
275 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | T>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139313 rs768391659 |
277 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350814987 rs1460688754 |
281 | M>I | No |
ClinGen gnomAD |
|
|
rs1261135830 CA350814947 |
282 | S>R | No |
ClinGen gnomAD |
|
|
rs1217720025 CA350814938 |
283 | I>F | No |
ClinGen gnomAD |
|
|
rs374156672 CA65912976 |
283 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2139309 rs749885578 |
284 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2139311 rs144411014 |
284 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144411014 CA2139310 |
284 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350814872 rs1350793049 |
287 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 287 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139308 rs186094760 |
291 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757749393 CA2139307 |
292 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA350814755 rs1290957168 |
294 | P>R | No |
ClinGen gnomAD |
|
|
rs201889925 CA2139286 |
298 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2139284 rs759005594 |
301 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA350814265 rs1252697259 |
304 | L>W | No |
ClinGen gnomAD |
|
|
rs1362107084 CA350814257 |
305 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65911840 rs755224716 |
306 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs754076799 CA2139279 |
307 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 307 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139274 rs762926554 |
317 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775234165 CA2139273 |
323 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350814123 rs1189922647 |
325 | A>S | No |
ClinGen gnomAD |
|
|
COSM1326389 COSM1326388 rs1559193488 CA350813960 |
330 | G>E | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2139263 rs181909764 |
331 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375922962 CA2139262 |
331 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA65911070 rs201423559 |
333 | N>H | No |
ClinGen 1000Genomes |
|
|
CA2139260 rs766470170 |
336 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2139258 rs750443540 |
338 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139259 rs777147287 |
338 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338953321 CA350813816 |
338 | H>Y | No |
ClinGen gnomAD |
|
|
rs767623229 CA2139257 |
341 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1470448549 CA350813716 |
343 | A>T | No |
ClinGen gnomAD |
|
|
rs1178972269 CA350813692 |
345 | I>V | No |
ClinGen gnomAD |
|
|
rs1418002764 CA350813577 |
353 | K>T | No |
ClinGen gnomAD |
|
|
rs1478868896 CA350813568 |
354 | A>T | No |
ClinGen TOPMed |
|
|
CA350813532 rs1385000568 |
357 | A>P | No |
ClinGen gnomAD |
|
|
CA2139251 rs770441905 |
358 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760425336 CA2139250 |
359 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350813056 rs1159466174 |
361 | I>S | No |
ClinGen TOPMed |
|
|
CA2139229 rs761364395 |
361 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574804994 CA350812951 |
367 | S>L | No |
ClinGen Ensembl |
|
|
rs1455206313 CA350812874 |
372 | I>L | No |
ClinGen TOPMed |
|
|
CA2139227 rs370057042 |
373 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350812844 rs1490641997 |
374 | D>N | No |
ClinGen gnomAD |
|
|
rs780277461 CA2139225 |
376 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770252146 CA2139224 |
379 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2139222 rs781324477 |
382 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2139221 rs757503754 COSM1225299 COSM1225300 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350812660 rs1346010186 |
383 | H>R | No |
ClinGen gnomAD |
|
|
rs751592497 CA2139220 |
383 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199680465 CA2139219 |
385 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754841115 CA2139218 |
386 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1470499051 CA350812503 |
387 | G>D | No |
ClinGen gnomAD |
|
|
rs1408818939 CA350812493 |
388 | A>S | No |
ClinGen gnomAD |
|
|
CA350812483 rs1174858925 |
389 | V>M | No |
ClinGen gnomAD |
|
|
CA2139203 rs149268336 |
392 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350812440 rs1559190640 |
394 | Q>R | No |
ClinGen Ensembl |
|
|
CA350812430 rs1468672924 |
395 | I>M | No |
ClinGen gnomAD |
|
|
CA350812423 rs1464950738 |
396 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2139201 rs1553541436 |
398 | P>L | No |
ClinGen Ensembl |
No associated diseases with P07093
No regional properties for P07093
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P07093 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| extrinsic component of external side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its external surface, but not integrated into the hydrophobic region. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| platelet alpha granule | A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycosaminoglycan binding | Binding to a glycan (polysaccharide) containing a substantial proportion of aminomonosaccharide residues. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
27 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cerebellar granular layer morphogenesis | The process in which the anatomical structure of the cerebellar granular layer is generated and organized. The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer. |
| detection of mechanical stimulus involved in sensory perception | The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception. |
| innervation | The process in which a nerve invades a tissue and makes functional synaptic connection within the tissue. |
| long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
| mating plug formation | The deposition of a plug of sperm or other gelatinous material into the opening of the vulva by a male at the termination of copulation. Probably acts to prevent subsequent matings by other males. |
| negative regulation of blood coagulation | Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
| negative regulation of phosphatidylinositol 3-kinase signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| negative regulation of plasminogen activation | Any process that decreases the rate, frequency or extent of plasminogen activation. Plasminogen activation is the process in which plasminogen is processed to plasmin. |
| negative regulation of platelet aggregation | Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. |
| negative regulation of protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process. |
| negative regulation of protein processing | Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. |
| negative regulation of proteolysis | Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| negative regulation of sodium ion transport | Any process that decreases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| positive regulation of astrocyte differentiation | Any process that activates or increases the frequency, rate or extent of astrocyte differentiation. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| regulation of timing of cell differentiation | The process controlling the activation and/or rate at which relatively unspecialized cells acquire specialized features. Any process that modulates the rate, frequency or extent of the XXX at a consistent predetermined time point during its development. |
| secretion by cell | The controlled release of a substance by a cell. |
| secretory granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. |
| seminal vesicle epithelium development | The progression of the seminal vesicle epithelium over time, from its formation to the mature structure. |
35 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N2I2 | SERPINA5 | Plasma serine protease inhibitor | Bos taurus (Bovine) | PR |
| P41361 | SERPINC1 | Antithrombin-III | Bos taurus (Bovine) | PR |
| A6QPQ2 | SERPINA3-8 | Serpin A3-8 | Bos taurus (Bovine) | PR |
| A2I7N1 | SERPINA3-5 | Serpin A3-5 | Bos taurus (Bovine) | PR |
| Q1JPB0 | SERPINB1 | Leukocyte elastase inhibitor | Bos taurus (Bovine) | PR |
| P13909 | SERPINE1 | Plasminogen activator inhibitor 1 | Bos taurus (Bovine) | PR |
| Q9TTE1 | SERPINA3-1 | Serpin A3-1 | Bos taurus (Bovine) | PR |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | PR |
| P01008 | SERPINC1 | Antithrombin-III | Homo sapiens (Human) | PR |
| P05121 | SERPINE1 | Plasminogen activator inhibitor 1 | Homo sapiens (Human) | PR |
| P08697 | SERPINF2 | Alpha-2-antiplasmin | Homo sapiens (Human) | PR |
| P05155 | SERPING1 | Plasma protease C1 inhibitor | Homo sapiens (Human) | PR |
| Q86WD7 | SERPINA9 | Serpin A9 | Homo sapiens (Human) | PR |
| P01011 | SERPINA3 | Alpha-1-antichymotrypsin | Homo sapiens (Human) | PR |
| Q9UK55 | SERPINA10 | Protein Z-dependent protease inhibitor | Homo sapiens (Human) | PR |
| Q96P15 | SERPINB11 | Serpin B11 | Homo sapiens (Human) | PR |
| Q5SV42 | Serpinb1c | Leukocyte elastase inhibitor C | Mus musculus (Mouse) | PR |
| Q8CDC0 | Serpinb13 | Serpin B13 | Mus musculus (Mouse) | PR |
| P22777 | Serpine1 | Plasminogen activator inhibitor 1 | Mus musculus (Mouse) | PR |
| Q5I2A0 | Serpina3g | Serine protease inhibitor A3G | Mus musculus (Mouse) | PR |
| Q9JK88 | Serpini2 | Serpin I2 | Mus musculus (Mouse) | PR |
| P12388 | Serpinb2 | Plasminogen activator inhibitor 2, macrophage | Mus musculus (Mouse) | PR |
| P32261 | Serpinc1 | Antithrombin-III | Mus musculus (Mouse) | PR |
| Q9D154 | Serpinb1a | Leukocyte elastase inhibitor A | Mus musculus (Mouse) | PR |
| Q8BYY9 | Serpina3b | Serine protease inhibitor A3B | Mus musculus (Mouse) | PR |
| Q80X76 | Serpina3f | Serine protease inhibitor A3F | Mus musculus (Mouse) | PR |
| Q07235 | Serpine2 | Glia-derived nexin | Mus musculus (Mouse) | PR |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | Rattus norvegicus (Rat) | PR |
| P05545 | Serpina3k | Serine protease inhibitor A3K | Rattus norvegicus (Rat) | PR |
| Q62975 | Serpina10 | Protein Z-dependent protease inhibitor | Rattus norvegicus (Rat) | PR |
| P07092 | Serpine2 | Glia-derived nexin | Rattus norvegicus (Rat) | PR |
| Q9ZQR6 | At2g14540 | Serpin-Z2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1T7 | At3g45220 | Serpin-Z4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48706 | At2g26390 | Serpin-Z3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNWHLPLFLL | ASVTLPSICS | HFNPLSLEEL | GSNTGIQVFN | QIVKSRPHDN | IVISPHGIAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLGMLQLGAD | GRTKKQLAMV | MRYGVNGVGK | ILKKINKAIV | SKKNKDIVTV | ANAVFVKNAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EIEVPFVTRN | KDVFQCEVRN | VNFEDPASAC | DSINAWVKNE | TRDMIDNLLS | PDLIDGVLTR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVLVNAVYFK | GLWKSRFQPE | NTKKRTFVAA | DGKSYQVPML | AQLSVFRCGS | TSAPNDLWYN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FIELPYHGES | ISMLIALPTE | SSTPLSAIIP | HISTKTIDSW | MSIMVPKRVQ | VILPKFTAVA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QTDLKEPLKV | LGITDMFDSS | KANFAKITTG | SENLHVSHIL | QKAKIEVSED | GTKASAATTA |
| 370 | 380 | 390 | |||
| ILIARSSPPW | FIVDRPFLFF | IRHNPTGAVL | FMGQINKP |