P23219
PR
Gene name |
PTGS1 |
Protein name |
Prostaglandin G/H synthase 1 |
Names |
Cyclooxygenase-1, COX-1, Prostaglandin H2 synthase 1, PGH synthase 1, PGHS-1, PHS 1, Prostaglandin-endoperoxide synthase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5742 |
EC number |
1.14.99.1: Miscellaneous |
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
2 structures for P23219
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6Y3C | X-ray | 336 A | A | 24-599 | PDB |
| AF-P23219-F1 | Predicted | AlphaFoldDB |
526 variants for P23219
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5224605 rs766413646 |
2 | S>G | No |
ClinGen ExAC |
|
|
CA5224606 rs774361014 |
2 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901122141 CA199473289 |
3 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759503469 CA5224625 |
4 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224624 rs759503469 |
4 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224627 rs760588922 |
6 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775139027 CA5224626 |
6 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1461068137 CA374777135 |
7 | L>P | No |
ClinGen gnomAD |
|
|
rs142176470 CA374777150 |
8 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374777145 rs1236913 |
8 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386738321 CA199473409 |
8 | W>P | No |
ClinGen Ensembl |
|
|
VAR_013451 rs1236913 CA5224629 |
8 | W>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5224630 rs142176470 |
8 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374777182 rs1588113229 |
9 | F>V | No |
ClinGen Ensembl |
|
|
rs1229003096 CA374777237 |
11 | L>P | No |
ClinGen gnomAD |
|
|
CA5224631 rs764688472 |
11 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224633 rs749977121 |
12 | F>L | No |
ClinGen ExAC |
|
|
rs1355212728 CA374777329 |
14 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs534752292 RCV000882385 |
15 | L>missing | No |
ClinVar dbSNP |
|
|
CA199473432 rs200490358 |
15 | L>P | No |
ClinGen Ensembl |
|
|
rs755456571 CA5224634 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1468784224 CA374777352 |
16 | L>P | No |
ClinGen gnomAD |
|
|
VAR_013452 CA5224636 rs3842787 COSM3763594 |
17 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA374777387 rs1354484385 |
18 | P>L | No |
ClinGen TOPMed |
|
|
rs1474919628 CA374777413 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs749470434 CA5224639 |
21 | V>A | No |
ClinGen ExAC |
|
|
rs200727971 CA5224638 |
21 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200727971 CA199473462 |
21 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374777503 rs779101761 |
24 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224641 rs779101761 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319551177 CA374777517 |
25 | D>H | No |
ClinGen gnomAD |
|
|
rs1319551177 CA374777523 |
25 | D>Y | No |
ClinGen gnomAD |
|
|
rs775435311 CA5224644 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775435311 CA5224645 |
26 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA374777576 rs1294785777 |
27 | G>A | No |
ClinGen gnomAD |
|
|
CA374777572 rs1294785777 |
27 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776323463 CA5224647 |
30 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA374777633 rs776323463 |
30 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA374777642 rs1486810977 |
31 | P>Q | No |
ClinGen gnomAD |
|
|
rs201358635 CA199473494 |
31 | P>T | No |
ClinGen Ensembl |
|
|
CA5224679 rs780151632 |
34 | P>L | No |
ClinGen ExAC |
|
|
CA374778788 rs146798706 |
37 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754929199 CA5224681 |
38 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1341497045 CA374778789 |
38 | Y>N | No |
ClinGen TOPMed |
|
|
rs866976183 CA199476694 |
39 | P>L | No |
ClinGen Ensembl |
|
|
rs1355943489 CA374778806 |
40 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748082558 CA5224683 |
45 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769519064 CA5224684 |
46 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA5224685 rs368356508 |
48 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145719684 CA5224686 |
48 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374778871 rs201276316 |
50 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs201276316 CA5224689 |
50 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201276316 CA5224688 |
50 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA374778885 rs1588123639 |
52 | D>A | No |
ClinGen Ensembl |
|
|
CA374778898 rs767143547 |
53 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5224691 rs3842789 VAR_019161 COSM203052 |
53 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5224690 rs767143547 |
53 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5224692 rs762435435 |
55 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765660071 CA5224693 |
59 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1588123685 CA374778988 |
59 | T>P | No |
ClinGen Ensembl |
|
|
CA374778997 rs1485800508 |
60 | R>C | No |
ClinGen gnomAD |
|
|
rs200993905 CA5224695 |
60 | R>H | Variant assessed as Somatic; 4.721e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA199476740 rs200993905 |
60 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374779009 rs1166179022 |
61 | T>A | No |
ClinGen TOPMed |
|
|
CA374779011 rs201806874 |
61 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5224696 rs201806874 |
61 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754946174 CA5224698 |
62 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781262401 CA5224699 |
63 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5224701 rs199631305 |
65 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199476758 rs202069102 |
68 | C>G | No |
ClinGen gnomAD |
|
|
CA5224703 rs749083530 |
69 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs530984736 CA5224726 |
71 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5224704 rs143357990 |
71 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200851241 CA5224727 |
72 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199477084 rs201623077 |
74 | W>* | No |
ClinGen Ensembl |
|
|
rs1235555836 CA374779251 |
74 | W>G | No |
ClinGen gnomAD |
|
|
CA374779271 rs1433965237 |
75 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1564133596 CA374779301 |
77 | L>H | No |
ClinGen Ensembl |
|
|
rs201201408 CA374779311 |
78 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201201408 CA5224729 |
78 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1459818 CA5224728 COSM76110 rs181947887 |
78 | R>W | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5224732 rs202202847 |
82 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5224731 rs374417599 |
82 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs570181723 CA5224733 |
83 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374779387 rs1281575509 |
84 | S>R | No |
ClinGen gnomAD |
|
|
rs774902601 CA199477110 |
85 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5224734 rs774902601 |
85 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5224735 rs759721849 |
86 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA199477134 rs370137933 |
89 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs1349486095 CA374779440 |
90 | F>C | No |
ClinGen gnomAD |
|
|
rs752758224 CA5224738 |
92 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1282806042 CA374779451 |
92 | L>P | No |
ClinGen TOPMed |
|
|
rs1435665295 CA374779453 |
93 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1352297092 CA374779463 |
94 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374779461 rs1206379293 |
94 | H>Y | No |
ClinGen gnomAD |
|
|
CA5224741 rs753672636 |
95 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5224742 rs200494275 |
96 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224744 rs185497478 |
96 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224743 rs185497478 |
96 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201321920 COSM1624503 CA5224746 |
97 | W>* | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201321920 CA5224747 |
97 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758111962 CA5224745 |
97 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1408353678 CA374779504 |
100 | E>D | No |
ClinGen gnomAD |
|
|
CA374779510 rs1412713473 |
101 | F>S | No |
ClinGen TOPMed |
|
|
rs189207093 CA374779515 |
102 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189207093 CA5224748 |
102 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374779520 rs1401551468 |
103 | N>H | No |
ClinGen gnomAD |
|
|
CA374779536 rs1440603985 |
105 | T>I | No |
ClinGen gnomAD |
|
|
CA199477182 rs200837579 |
108 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5224750 rs5787 |
108 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1016323395 CA199477193 |
109 | E>D | No |
ClinGen TOPMed |
|
|
CA199477189 rs1006330625 |
109 | E>K | No |
ClinGen TOPMed |
|
|
CA374779569 rs1320749717 |
110 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575538701 CA5224751 |
111 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1156905767 CA374779580 |
112 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5224753 rs759948709 |
112 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5224754 rs200028534 |
113 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5224755 rs775618916 |
113 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374779587 rs775618916 |
113 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA199477205 rs200028534 |
113 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294196498 CA374779608 |
117 | T>K | No |
ClinGen TOPMed |
|
|
CA199477388 COSM403495 rs117122585 |
119 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754563323 CA5224783 |
119 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224782 rs117122585 |
119 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778096193 CA199477404 |
121 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5224784 rs767254405 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA374779664 rs1355711160 |
125 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147795437 CA199477417 |
126 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA374779679 rs1207199723 |
127 | P>H | No |
ClinGen TOPMed |
|
|
rs1186152883 CA374779687 |
128 | T>I | No |
ClinGen gnomAD |
|
| rs779702921 | 128 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954849919 CA199477439 |
134 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5224790 rs202111485 |
136 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564134381 CA374779750 |
137 | S>I | No |
ClinGen Ensembl |
|
|
CA5224793 rs201463029 |
138 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs137938866 CA5224792 |
138 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768757555 CA5224794 |
139 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006117739 CA199477470 |
139 | E>K | No |
ClinGen Ensembl |
|
|
rs1318856680 CA374779770 |
140 | S>Y | No |
ClinGen TOPMed |
|
|
rs769870166 CA5224798 |
141 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs542535309 CA199477497 |
142 | S>F | No |
ClinGen 1000Genomes |
|
|
rs368871343 CA5224800 |
143 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1013587209 CA199477509 |
144 | V>M | No |
ClinGen gnomAD |
|
|
rs771040023 CA5224801 |
148 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374779828 rs1379029876 |
149 | R>C | No |
ClinGen gnomAD |
|
|
COSM284357 rs10306140 CA5224802 |
149 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs10306140 CA199477517 VAR_019162 |
149 | R>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs10306140 CA5224803 |
149 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465507375 CA374779858 |
154 | V>G | No |
ClinGen TOPMed |
|
|
CA5224804 rs767216209 |
156 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs969506010 CA199477542 |
156 | K>T | No |
ClinGen Ensembl |
|
|
CA5224805 rs147131934 |
157 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374779896 rs1208057929 |
160 | T>I | No |
ClinGen gnomAD |
|
|
rs1436650713 CA374779893 |
160 | T>S | No |
ClinGen gnomAD |
|
|
CA5224806 rs760264793 |
161 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201412045 CA199477555 |
162 | M>I | No |
ClinGen Ensembl |
|
|
CA374779907 rs1195588804 |
162 | M>T | No |
ClinGen gnomAD |
|
|
CA374779904 rs1483666446 |
162 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5224807 rs139521520 |
164 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758897801 CA5224809 |
165 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA374780373 rs1272870519 |
169 | Q>E | No |
ClinGen gnomAD |
|
|
rs778206736 CA5224837 |
171 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5224838 rs749523355 |
172 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757344876 CA5224839 |
175 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1588128795 CA374780468 |
177 | A>V | No |
ClinGen Ensembl |
|
|
rs745776199 CA5224841 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224842 COSM1104823 rs202052201 |
178 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745776199 CA374780473 |
178 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224843 rs775345298 |
179 | R>C | No |
ClinGen ExAC TOPMed |
|
|
COSM1222468 rs199832794 CA5224844 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768447613 CA5224845 |
180 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224847 rs761476597 |
183 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5224848 VAR_056663 rs3842792 |
185 | K>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 187 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296358400 CA374780619 |
188 | P>A | No |
ClinGen gnomAD |
|
|
CA374780627 rs1342618257 |
188 | P>R | No |
ClinGen gnomAD |
|
|
CA199478771 rs907158454 |
189 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs577686184 CA5224849 |
190 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767966650 CA5224851 |
191 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374780677 rs1291264280 |
191 | Q>R | No |
ClinGen gnomAD |
|
|
rs1588128940 CA374780694 |
192 | G>D | No |
ClinGen Ensembl |
|
|
rs201523045 CA5224852 |
192 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224853 rs756477134 |
194 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199478835 rs955299223 |
195 | L>F | No |
ClinGen Ensembl |
|
|
CA199478840 rs1006732326 |
195 | L>P | No |
ClinGen Ensembl |
|
|
COSM2154325 CA5224854 rs764562846 |
198 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754062599 CA5224855 |
199 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA374780829 rs1186843369 |
200 | F>L | No |
ClinGen gnomAD |
|
|
rs200351496 CA5224856 |
204 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199478847 rs974162445 |
205 | T>I | No |
ClinGen Ensembl |
|
|
rs1407184368 CA374780918 |
206 | H>L | No |
ClinGen gnomAD |
|
|
CA374780917 rs1407184368 |
206 | H>R | No |
ClinGen gnomAD |
|
|
rs779031650 CA5224857 |
206 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374781011 rs1485738779 |
211 | T>A | No |
ClinGen TOPMed |
|
|
rs560833355 CA5224858 |
212 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251062591 CA374781086 |
215 | M>I | No |
ClinGen gnomAD |
|
|
CA374781099 rs377116298 |
217 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA199478863 rs369988194 |
217 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369988194 CA5224860 |
217 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199478862 rs377116298 |
217 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA199478858 rs377116298 |
217 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA199478867 rs199508392 |
220 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374781154 rs746963818 |
222 | A>G | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 222 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450665882 CA374781146 |
222 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5224861 rs746963818 |
222 | A>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 224 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200565417 CA199478870 |
225 | H>R | No |
ClinGen Ensembl |
|
|
rs866392396 CA199478887 |
226 | G>R | No |
ClinGen Ensembl |
|
|
CA5224883 rs777223987 |
229 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs3842795 CA374781266 |
230 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3842795 CA5224885 |
230 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374781288 rs1196657420 |
232 | I>V | No |
ClinGen gnomAD |
|
|
rs999646380 CA199479043 |
233 | Y>F | No |
ClinGen Ensembl |
|
|
rs777134473 CA5224889 CA374781319 |
236 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769346973 CA5224888 |
236 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5224890 rs5789 VAR_019163 |
237 | L>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1271246756 CA374781335 |
239 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201247583 CA5224891 |
239 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201831027 CA5224892 |
240 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA199479062 rs200973395 |
243 | L>P | No |
ClinGen Ensembl |
|
|
CA5224897 rs200413675 |
244 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224896 rs201936137 |
244 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752635419 CA5224898 |
245 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931337125 CA199479078 |
246 | F>Y | No |
ClinGen TOPMed |
|
|
CA5224899 rs755806957 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs61757787 CA5224900 |
248 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61757787 CA199479102 |
248 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1241518531 CA374781388 |
248 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1238249297 CA374781396 |
249 | G>E | No |
ClinGen TOPMed |
|
|
rs748847805 CA374781413 |
252 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs748847805 CA5224901 |
252 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs538442576 CA199479123 |
254 | Q>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA374781676 rs1351651607 |
255 | V>M | No |
ClinGen gnomAD |
|
|
rs773437469 CA5224934 |
256 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992777872 CA374781706 |
257 | D>N | No |
ClinGen gnomAD |
|
|
rs992777872 CA199487428 |
257 | D>Y | No |
ClinGen gnomAD |
|
|
CA199487431 rs867325721 |
258 | G>R | No |
ClinGen Ensembl |
|
|
rs139956360 CA5224935 |
259 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5224936 rs771287763 |
261 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs199629964 CA5224937 |
262 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374781836 rs1588132536 |
263 | P>H | No |
ClinGen Ensembl |
|
|
CA5224940 rs775676489 |
264 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224943 rs151025665 |
266 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5224942 rs200090968 |
266 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757063530 CA5224944 |
267 | E>K | No |
ClinGen ExAC |
|
|
rs765149612 CA5224945 |
268 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224947 rs758165104 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA199487526 rs201574310 |
271 | L>F | No |
ClinGen 1000Genomes |
|
|
rs746589741 CA5224949 |
272 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs199965305 CA5224951 |
273 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756576489 CA5224950 |
273 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201244156 CA5224952 |
274 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774725068 CA5224954 |
275 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs202218991 CA5224956 |
276 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200024359 CA5224957 |
276 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200825574 CA199487548 |
279 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5224960 rs201651122 |
280 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201651122 CA5224961 |
280 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1222459160 CA374782080 |
281 | Q>R | No |
ClinGen TOPMed |
|
|
CA5224963 rs750293213 |
282 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766125245 CA5224965 |
284 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751174178 CA5224966 |
287 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1292860855 CA374782184 |
289 | E>Q | No |
ClinGen gnomAD |
|
|
rs1367041659 CA374782263 |
295 | P>L | No |
ClinGen gnomAD |
|
|
rs1218412685 CA374782304 |
298 | M>I | No |
ClinGen gnomAD |
|
|
CA5224969 rs754302638 |
298 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200209212 CA5224970 |
302 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224973 rs141015838 |
304 | W>* | No |
ClinGen ESP ExAC |
|
|
rs780267925 CA5224974 |
306 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs60893133 CA5224975 COSM1459823 |
306 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA199487655 rs60893133 |
306 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374782390 rs1192381052 |
307 | E>* | No |
ClinGen gnomAD |
|
|
rs1477254696 CA374782401 |
308 | H>Y | No |
ClinGen gnomAD |
|
|
rs200336506 CA5224978 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201325322 CA5224979 |
310 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5224980 rs200721326 |
313 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA374782433 rs941053201 |
313 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA199487695 rs941053201 |
313 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5224982 rs534966394 |
314 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5224983 rs751171591 |
317 | A>V | No |
ClinGen ExAC |
|
|
rs201374825 CA5224986 |
318 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224985 rs759138174 |
318 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199487735 rs201316771 |
319 | H>L | No |
ClinGen Ensembl |
|
|
CA374782468 rs1399690917 |
319 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5224992 rs780314550 |
321 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200834586 CA5224993 |
323 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320384776 CA374782496 |
323 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748308378 CA5224996 |
324 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374782547 rs543848883 |
330 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5224999 COSM2150934 rs543848883 |
330 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5225000 rs201808321 |
332 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5225001 rs201808321 |
332 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978684239 CA199487779 |
332 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374782581 rs1425553917 |
336 | I>T | No |
ClinGen gnomAD |
|
|
rs145832816 CA374782910 |
338 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374782914 rs770451161 |
339 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA199489502 rs770451161 |
339 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770451161 CA374782917 |
339 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313769659 CA374782943 |
340 | I>M | No |
ClinGen gnomAD |
|
|
rs3842799 VAR_056664 CA5225027 |
341 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200953830 CA5225028 |
344 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237507833 CA374783009 |
344 | I>V | No |
ClinGen gnomAD |
|
|
rs796503758 CA199489527 |
345 | E>G | No |
ClinGen gnomAD |
|
|
COSM1459824 rs1234735937 CA374783028 |
345 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1234735937 CA374783030 |
345 | E>Q | No |
ClinGen gnomAD |
|
|
rs766866338 CA5225031 |
346 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537966176 CA5225030 |
346 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201795484 CA374783082 |
347 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199489556 rs34025875 |
348 | V>E | No |
ClinGen Ensembl |
|
|
rs199920809 CA199489554 |
348 | V>M | No |
ClinGen Ensembl |
|
|
rs755242638 CA5225033 |
352 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs893235391 COSM1554017 CA199489564 |
357 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1400018778 CA374783257 |
357 | Q>K | No |
ClinGen gnomAD |
|
|
VAR_013453 rs5791 CA199489568 |
359 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs199941262 CA199489569 |
361 | D>E | No |
ClinGen 1000Genomes |
|
|
rs777974312 CA5225037 |
367 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202234148 CA5225036 |
367 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199489581 rs898928989 |
368 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374783413 rs1309870814 |
369 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5225039 rs749385976 |
373 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5225040 rs757213251 |
373 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757213251 CA5225041 |
373 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374783486 rs1315825691 |
374 | N>K | No |
ClinGen gnomAD |
|
|
CA5225042 rs745829594 |
375 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1459825 rs1273597287 CA374783490 |
375 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1273597287 CA374783493 |
375 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374783515 rs1305962442 |
376 | I>T | No |
ClinGen gnomAD |
|
|
rs200451116 CA199489593 |
378 | M>L | No |
ClinGen gnomAD |
|
|
CA374783538 rs1198174544 |
378 | M>R | No |
ClinGen gnomAD |
|
|
CA374783529 rs200451116 |
378 | M>V | No |
ClinGen gnomAD |
|
|
rs201913038 CA5225045 |
381 | N>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA199489608 rs201487422 |
382 | H>R | No |
ClinGen Ensembl |
|
|
CA5225046 rs773784546 |
385 | H>R | No |
ClinGen ExAC |
|
|
CA199489631 rs1033598858 |
388 | P>R | No |
ClinGen gnomAD |
|
| rs778554144 | 389 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5225049 rs761165659 |
389 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769362378 CA5225050 |
391 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774674911 CA5225051 |
393 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1329211275 CA374783772 |
396 | V>L | No |
ClinGen TOPMed |
|
|
CA5225052 rs544792959 |
397 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201936698 CA374783808 |
399 | Q>P | No |
ClinGen gnomAD |
|
|
rs201936698 CA199489667 |
399 | Q>R | No |
ClinGen gnomAD |
|
|
CA5225053 rs767959516 |
400 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA5225055 rs753157503 |
401 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5225056 COSM218977 rs200616613 |
404 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200616613 CA199489691 |
404 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374783890 rs1270724737 |
406 | F>C | No |
ClinGen gnomAD |
|
|
rs754094508 CA5225058 |
409 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287884037 CA374783932 |
410 | T>S | No |
ClinGen gnomAD |
|
|
CA374784003 rs1223551673 |
414 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374783996 rs1464867823 |
414 | V>M | No |
ClinGen TOPMed |
|
|
CA374784028 rs1262695164 |
416 | Y>C | No |
ClinGen gnomAD |
|
|
CA374784022 rs1564142940 |
416 | Y>H | No |
ClinGen Ensembl |
|
|
CA374784054 rs1205896659 |
418 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374784085 rs1477059027 COSM607463 |
420 | A>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs139319631 CA374784093 |
421 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374147760 CA374784138 |
424 | A>S | No |
ClinGen gnomAD |
|
|
rs1374147760 CA374784134 |
424 | A>T | No |
ClinGen gnomAD |
|
|
rs144055980 CA5225061 |
425 | F>S | No |
ClinGen ESP ExAC |
|
|
CA374784151 rs1472797755 |
425 | F>V | No |
ClinGen gnomAD |
|
|
rs1453311290 CA374784165 |
426 | S>P | No |
ClinGen gnomAD |
|
|
CA5225062 rs758379805 |
427 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144142084 CA5225063 |
427 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144142084 CA374784184 |
427 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201253577 CA5225064 |
428 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 428 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5225065 rs768447556 |
429 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs10985630 CA199489775 |
430 | A>V | No |
ClinGen Ensembl |
|
|
CA199489805 rs371818443 |
432 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374784249 rs371818443 |
432 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225067 rs371818443 |
432 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374784244 rs1199607496 |
432 | R>W | No |
ClinGen TOPMed |
|
|
rs1377938676 CA374784660 |
433 | I>T | No |
ClinGen gnomAD |
|
|
rs143030223 CA5225079 |
434 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5225080 rs201552344 |
435 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225081 rs751514710 |
436 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374784690 rs1383364119 |
438 | N>I | No |
ClinGen gnomAD |
|
|
CA199491851 rs1013695541 |
439 | M>I | No |
ClinGen TOPMed |
|
|
rs781075207 CA5225083 COSM1104828 |
439 | M>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5225082 rs754721873 |
439 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1026557269 CA199491860 |
440 | D>A | No |
ClinGen TOPMed |
|
|
CA374784716 rs1588141594 |
440 | D>E | No |
ClinGen Ensembl |
|
|
CA199491865 rs922186878 |
441 | H>R | No |
ClinGen gnomAD |
|
|
CA5225085 rs200049829 |
442 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588141623 CA374784738 |
442 | H>Y | No |
ClinGen Ensembl |
|
|
VAR_013454 CA199491881 rs5792 |
443 | I>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs200856477 CA199491887 |
445 | H>L | No |
ClinGen Ensembl |
|
|
rs1261502092 CA374784785 |
445 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs186089151 CA5225086 |
448 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748870472 CA5225087 |
449 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs77027063 COSM3952303 CA199491899 |
449 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1371451731 CA374784821 |
449 | D>N | No |
ClinGen Ensembl |
|
|
rs1462203829 CA374784851 |
451 | I>F | No |
ClinGen gnomAD |
|
|
CA5225088 rs770569428 |
452 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374784903 rs1235877514 |
455 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776082208 CA5225089 |
455 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235877514 CA374784905 |
455 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA374784915 rs1376665437 |
456 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747538111 CA5225090 |
457 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202077552 CA5225093 |
458 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5225091 COSM369454 rs201622021 |
458 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1564145887 CA374784974 |
460 | Q>R | No |
ClinGen Ensembl |
|
|
CA374785019 rs1378013115 |
463 | N>S | No |
ClinGen TOPMed |
|
|
CA5225095 rs200149499 |
466 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225096 rs762967410 |
466 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200149499 CA5225094 |
466 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs5793 CA199491956 |
467 | K>E | No |
ClinGen Ensembl |
|
|
rs1308012947 CA374785088 |
468 | R>K | No |
ClinGen gnomAD |
|
|
rs202202331 CA199491962 |
471 | M>T | No |
ClinGen Ensembl |
|
|
CA199491959 rs201169549 |
471 | M>V | No |
ClinGen gnomAD |
|
|
CA374785145 rs1330672296 |
472 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374785159 rs1222076748 |
473 | P>T | No |
ClinGen gnomAD |
|
|
rs1016563469 CA199491972 |
474 | Y>H | No |
ClinGen TOPMed |
|
|
CA5225097 rs766471508 |
475 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA374785221 rs1250076225 |
477 | F>S | No |
ClinGen gnomAD |
|
|
VAR_028017 rs5794 CA5225100 |
481 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1026348451 CA199493279 |
482 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764002862 CA5225122 |
483 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA374785510 rs1305615443 |
483 | E>G | No |
ClinGen TOPMed |
|
|
CA5225123 rs753499997 |
484 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356670240 CA374785523 |
485 | E>A | No |
ClinGen gnomAD |
|
|
rs1365802832 CA374785521 |
485 | E>Q | No |
ClinGen TOPMed |
|
|
CA5225124 rs757008796 |
486 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374785532 rs1247480517 |
486 | M>T | No |
ClinGen gnomAD |
|
|
rs1487722775 CA374785541 |
487 | A>V | No |
ClinGen gnomAD |
|
|
CA199493292 rs971134486 |
489 | E>K | No |
ClinGen Ensembl |
|
|
CA374785582 rs1471982931 |
493 | L>S | No |
ClinGen TOPMed |
|
|
CA374785589 rs1365921984 |
494 | Y>C | No |
ClinGen TOPMed |
|
|
rs745438240 CA5225126 |
497 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200550102 CA5225127 |
499 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5225130 rs770158186 |
504 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374785666 rs1564148694 |
505 | G>A | No |
ClinGen Ensembl |
|
|
CA199493314 rs368538672 |
507 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA199493321 rs201964215 |
515 | S>P | No |
ClinGen Ensembl |
|
|
CA374785737 rs1302806115 |
516 | I>V | No |
ClinGen gnomAD |
|
|
CA199493323 rs915395645 |
517 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs915395645 CA374785746 |
517 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374785771 rs1352321780 |
521 | M>L | No |
ClinGen gnomAD |
|
|
CA5225132 rs368573797 |
521 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225133 rs199886942 |
522 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5225134 rs201356005 |
523 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201812915 CA5225135 |
524 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA374785803 rs1403280214 |
525 | G>V | No |
ClinGen TOPMed |
|
|
rs373931629 CA5225136 |
526 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA199493351 rs200975278 |
527 | P>H | No |
ClinGen Ensembl |
|
|
CA199493348 rs145989297 |
527 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145989297 CA5225137 |
527 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866722757 CA199493355 COSM1686096 |
529 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA374785827 rs1184126734 |
530 | L>F | No |
ClinGen gnomAD |
|
|
CA5225138 rs137963114 |
531 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5225139 rs763949437 |
532 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA199493368 rs201947942 |
532 | G>V | No |
ClinGen Ensembl |
|
|
CA374785852 rs1489045261 |
534 | L>R | No |
ClinGen gnomAD |
|
|
CA5225140 rs200460276 |
535 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199493385 COSM110478 rs146883047 |
537 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA199493379 rs201184369 |
537 | P>T | No |
ClinGen Ensembl |
|
|
rs1401653841 CA374785876 |
538 | I>M | No |
ClinGen gnomAD |
|
|
CA5225142 rs202195652 |
539 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs202195652 CA199493391 |
539 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5225145 rs757880106 |
540 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757880106 CA5225144 |
540 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5225146 COSM289107 rs753219685 |
541 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1196962987 CA374785895 |
542 | E>A | No |
ClinGen TOPMed |
|
|
rs778094724 CA5225148 |
543 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5225150 rs562053731 |
544 | W>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs200295924 CA5225151 |
546 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374785930 rs1205494988 |
547 | S>G | No |
ClinGen TOPMed |
|
|
rs775470716 CA5225154 |
551 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5225156 rs199842281 |
552 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374785972 rs1433740420 |
553 | V>A | No |
ClinGen TOPMed |
|
|
rs1433740420 CA374785973 |
553 | V>G | No |
ClinGen TOPMed |
|
|
CA374785969 rs1202443510 |
553 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374785968 rs1202443510 |
553 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1470667063 CA374785979 |
554 | G>A | No |
ClinGen gnomAD |
|
|
CA199493464 rs143433344 |
557 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225159 rs201061676 |
557 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5225158 rs143433344 |
557 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201084893 CA5225160 COSM1263322 |
560 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA199493487 rs201003047 |
562 | T>I | No |
ClinGen Ensembl |
|
|
CA5225162 rs765893652 |
567 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330375990 CA374786065 |
568 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5225163 rs751086028 |
569 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA199493506 rs201486676 |
571 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201486676 CA5225165 |
571 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1554013 rs199627452 CA5225166 |
572 | K>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277491951 CA374786102 |
574 | C>Y | No |
ClinGen gnomAD |
|
|
rs377391709 CA5225167 |
575 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5225168 rs533328230 |
577 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs267602117 CA5225169 |
578 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1003968567 CA199493530 |
580 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5225170 rs200664060 |
580 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201836968 COSM1330750 CA5225171 |
582 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs920517405 CA199493531 |
582 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200742375 CA199493541 |
584 | A>P | No |
ClinGen TOPMed |
|
|
rs200742375 CA374786161 |
584 | A>S | No |
ClinGen TOPMed |
|
|
rs560719076 CA5225173 |
584 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1237745930 CA374786165 |
585 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1474752028 CA374786167 |
585 | S>N | No |
ClinGen gnomAD |
|
|
rs1170116574 CA374786185 |
587 | D>V | No |
ClinGen gnomAD |
|
|
CA374786196 rs1258368286 |
589 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5225174 rs776662441 |
590 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374786208 rs1423400795 |
591 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374786211 rs1300938986 |
591 | A>V | No |
ClinGen gnomAD |
|
|
rs201753794 CA5225175 |
593 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769682753 CA5225176 |
594 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199493567 rs1022456315 |
594 | R>Q | No |
ClinGen gnomAD |
|
|
rs772933961 CA5225177 |
596 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374786241 rs1340193221 |
597 | T>A | No |
ClinGen TOPMed gnomAD |
No associated diseases with P23219
5 regional properties for P23219
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DNA-directed DNA polymerase X | 185 - 574 | IPR002054 |
| domain | DNA polymerase beta-like, N-terminal domain | 188 - 254 | IPR010996 |
| binding_site | DNA polymerase family X, binding site | 356 - 375 | IPR019843 |
| domain | DNA polymerase beta, palm domain | 327 - 406 | IPR028207 |
| domain | DNA polymerase beta, thumb domain | 516 - 574 | IPR029398 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.99.1 | Miscellaneous |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| metal ion binding | Binding to a metal ion. |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor. |
| peroxidase activity | Catalysis of the reaction: a donor + a peroxide = an oxidized donor + 2 H2O. |
| prostaglandin-endoperoxide synthase activity | Catalysis of the reaction: arachidonate + donor-H2 + 2 O2 = prostaglandin H2 + acceptor + H2O. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cyclooxygenase pathway | The chemical reactions and pathways by which prostaglandins are formed from arachidonic acid, and in which prostaglandin-endoperoxide synthase (cyclooxygenase) catalyzes the committed step in the conversion of arachidonic acid to the prostaglandin-endoperoxides PGG2 and PGH2. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| prostaglandin biosynthetic process | The chemical reactions and pathways resulting in the formation of prostaglandins, any of a group of biologically active metabolites which contain a cyclopentane ring. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| response to oxidative stress | 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O62664 | PTGS1 | Prostaglandin G/H synthase 1 | Bos taurus (Bovine) | PR |
| Q8HZR1 | PTGS1 | Prostaglandin G/H synthase 1 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| Q9UPX0 | IGSF9B | Protein turtle homolog B | Homo sapiens (Human) | PR |
| P35354 | PTGS2 | Prostaglandin G/H synthase 2 | Homo sapiens (Human) | PR |
| Q05769 | Ptgs2 | Prostaglandin G/H synthase 2 | Mus musculus (Mouse) | PR |
| P22437 | Ptgs1 | Prostaglandin G/H synthase 1 | Mus musculus (Mouse) | PR |
| Q9C9U3 | DOX2 | Alpha-dioxygenase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRSLLLWFL | LFLLLLPPLP | VLLADPGAPT | PVNPCCYYPC | QHQGICVRFG | LDRYQCDCTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TGYSGPNCTI | PGLWTWLRNS | LRPSPSFTHF | LLTHGRWFWE | FVNATFIREM | LMRLVLTVRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLIPSPPTYN | SAHDYISWES | FSNVSYYTRI | LPSVPKDCPT | PMGTKGKKQL | PDAQLLARRF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLRRKFIPDP | QGTNLMFAFF | AQHFTHQFFK | TSGKMGPGFT | KALGHGVDLG | HIYGDNLERQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YQLRLFKDGK | LKYQVLDGEM | YPPSVEEAPV | LMHYPRGIPP | QSQMAVGQEV | FGLLPGLMLY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ATLWLREHNR | VCDLLKAEHP | TWGDEQLFQT | TRLILIGETI | KIVIEEYVQQ | LSGYFLQLKF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DPELLFGVQF | QYRNRIAMEF | NHLYHWHPLM | PDSFKVGSQE | YSYEQFLFNT | SMLVDYGVEA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVDAFSRQIA | GRIGGGRNMD | HHILHVAVDV | IRESREMRLQ | PFNEYRKRFG | MKPYTSFQEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VGEKEMAAEL | EELYGDIDAL | EFYPGLLLEK | CHPNSIFGES | MIEIGAPFSL | KGLLGNPICS |
| 550 | 560 | 570 | 580 | 590 | |
| PEYWKPSTFG | GEVGFNIVKT | ATLKKLVCLN | TKTCPYVSFR | VPDASQDDGP | AVERPSTEL |