P28039
PR
Gene name |
AOAH |
Protein name |
Acyloxyacyl hydrolase |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:313 |
EC number |
3.1.1.77: Carboxylic ester hydrolases |
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 P28039
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5W78 | X-ray | 227 A | PDB | ||
| 5W7C | X-ray | 223 A | PDB | ||
| AF-P28039-F1 | Predicted | AlphaFoldDB |
452 variants for P28039
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA367271263 rs1465586777 |
2 | Q>R | No |
ClinGen gnomAD |
|
|
rs894934797 CA157324620 |
3 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4220981 rs369740145 |
3 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4220980 rs201562489 |
4 | P>H | No |
ClinGen 1000Genomes ExAC |
|
|
CA367271249 rs1411704878 |
5 | W>R | No |
ClinGen gnomAD |
|
|
CA367271235 rs1207416113 CA367271234 |
6 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4220979 rs775298148 |
7 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1056392655 CA157324619 |
8 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4220978 rs769533119 |
9 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776587292 CA4220976 |
10 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4220975 rs144897559 |
11 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220974 rs144897559 |
11 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294305059 CA367271191 |
14 | F>L | No |
ClinGen TOPMed |
|
|
rs763470621 CA367271175 |
17 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755435529 CA4220968 |
22 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220966 rs200795608 |
23 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199803601 CA4220964 |
24 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs995221460 CA157324618 |
25 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1456116174 CA367271125 |
26 | A>T | No |
ClinGen gnomAD |
|
|
rs763476268 CA4220963 |
27 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs2228410 CA4220961 |
28 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220960 rs2228410 VAR_050663 |
28 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759390376 CA4220959 |
29 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184957073 CA367271092 |
30 | Q>H | No |
ClinGen gnomAD |
|
|
CA4220957 rs142388741 |
31 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4220958 rs776393602 |
31 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA367271082 rs1189867820 |
32 | R>S | No |
ClinGen gnomAD |
|
|
rs73346026 CA4220956 |
33 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773372318 CA4220955 |
34 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1358194611 CA367271068 |
35 | L>I | No |
ClinGen gnomAD |
|
|
CA367271067 rs1358194611 |
35 | L>V | No |
ClinGen gnomAD |
|
|
rs779347007 CA4220953 |
36 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779347007 CA4220952 |
36 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366116407 CA367271056 |
37 | N>Y | No |
ClinGen gnomAD |
|
|
rs1432928726 CA367271050 |
38 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756680496 CA4220948 |
41 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294277931 CA367215534 |
43 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 45 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4220918 rs750221911 |
48 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750221911 CA4220917 |
48 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761777280 CA4220915 |
50 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4220914 rs774604203 |
51 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4220913 rs769160335 |
53 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763107359 CA4220912 |
54 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220911 rs775617917 |
56 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763594533 CA157128801 |
59 | N>D | No |
ClinGen Ensembl |
|
|
CA4220909 rs746274093 |
60 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220910 rs746274093 |
60 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148515077 CA4220908 |
61 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs367967496 CA4220906 |
63 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220905 rs778415643 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471898461 CA367215399 |
65 | S>L | No |
ClinGen gnomAD |
|
|
CA4220903 rs753356397 |
66 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367768983 CA4220902 |
67 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367215385 rs1266748084 |
67 | E>D | No |
ClinGen gnomAD |
|
|
CA4220901 rs200019293 |
69 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290230813 CA367215364 |
71 | S>G | No |
ClinGen gnomAD |
|
|
rs1345421171 CA367215361 |
71 | S>N | No |
ClinGen TOPMed |
|
|
rs1380044444 CA367215353 |
72 | Y>C | No |
ClinGen gnomAD |
|
|
CA4220899 rs767380677 |
72 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA367215354 rs1380044444 |
72 | Y>S | No |
ClinGen gnomAD |
|
|
rs371757400 CA4220898 |
74 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs865942125 CA157128678 |
74 | P>T | No |
ClinGen Ensembl |
|
|
rs1322152769 CA367215318 |
75 | E>D | No |
ClinGen TOPMed |
|
|
rs1365389146 CA367215311 |
76 | K>N | No |
ClinGen TOPMed |
|
|
CA4220878 rs758294905 |
78 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1431777685 CA367215292 |
79 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs752722213 CA4220877 |
79 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA367215272 rs1371410199 |
82 | T>I | No |
ClinGen gnomAD |
|
|
rs1169755801 CA367215268 |
83 | C>Y | No |
ClinGen gnomAD |
|
|
CA367215261 rs1306322102 |
84 | Y>N | No |
ClinGen TOPMed |
|
|
rs765316463 CA4220876 |
87 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197761047 CA367215225 |
89 | K>T | No |
ClinGen gnomAD |
|
|
rs1490281282 CA367215204 |
92 | S>A | No |
ClinGen gnomAD |
|
|
CA367215199 rs1267800979 |
93 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1267800979 CA367215200 |
93 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1267800979 CA367215198 |
93 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA367215184 rs1205439413 |
95 | I>V | No |
ClinGen gnomAD |
|
|
CA4220875 rs759698731 |
96 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1256640387 CA367215146 |
99 | S>G | No |
ClinGen gnomAD |
|
|
CA4220853 rs766644181 |
99 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220851 rs760821326 |
100 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1306528837 CA367215136 |
100 | A>V | No |
ClinGen gnomAD |
|
|
CA4220850 rs542375083 |
104 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA157109332 rs756451335 |
108 | C>R | No |
ClinGen Ensembl |
|
|
rs767874208 CA4220849 |
109 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1469763241 CA367215070 |
110 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367215071 rs1469763241 |
110 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762062924 CA367215062 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4220848 rs762062924 |
111 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774966685 CA4220846 |
112 | E>V | No |
ClinGen ExAC |
|
|
rs753124536 CA157109315 |
113 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769043690 CA4220844 |
115 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1584051177 CA367215031 |
115 | K>N | No |
ClinGen Ensembl |
|
|
CA4220842 rs776226053 |
118 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220843 rs776226053 |
118 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367215007 rs1310700733 |
119 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770708714 CA4220841 |
120 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367214993 rs777448004 |
121 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777448004 CA4220839 |
121 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4220840 rs746617975 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA367214983 rs1268653146 |
123 | C>G | No |
ClinGen gnomAD |
|
|
rs747864480 CA4220837 |
123 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs576582231 CA4220836 |
124 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1260424567 CA367214974 |
124 | H>R | No |
ClinGen gnomAD |
|
|
rs1348254035 CA367214976 |
124 | H>Y | No |
ClinGen gnomAD |
|
|
rs1323683158 CA367214967 |
125 | L>P | No |
ClinGen gnomAD |
|
|
rs754857236 CA4220835 |
126 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753921146 CA4220834 |
128 | L>P | No |
ClinGen ExAC |
|
|
rs1451971008 CA367214942 |
129 | P>L | No |
ClinGen gnomAD |
|
|
CA4220815 rs759933828 |
131 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs927879417 CA157094955 |
135 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367212867 rs1428113958 |
135 | F>S | No |
ClinGen TOPMed |
|
|
CA4220814 rs779944998 |
138 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756227405 CA4220813 |
139 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4220811 rs745947175 |
142 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs148208589 CA157094949 |
147 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367212787 rs1267122680 |
147 | S>T | No |
ClinGen gnomAD |
|
|
rs148208589 CA4220809 |
147 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367212784 rs1275232173 |
148 | P>A | No |
ClinGen gnomAD |
|
|
CA4220808 rs751961165 |
148 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367212774 rs1275936384 |
149 | I>M | No |
ClinGen gnomAD |
|
|
rs758993630 CA4220806 |
150 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1962101 CA4220778 |
153 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1457551847 CA367208802 |
154 | R>G | No |
ClinGen gnomAD |
|
|
rs1410510167 CA367208783 |
156 | G>D | No |
ClinGen gnomAD |
|
|
CA367208742 rs1175693835 |
162 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749952482 CA4220777 |
163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286166553 CA367208727 |
165 | L>* | No |
ClinGen TOPMed |
|
|
rs1460406087 CA367208719 |
166 | A>G | No |
ClinGen gnomAD |
|
|
rs3735384 CA4220774 VAR_020133 |
166 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367208718 rs1460406087 |
166 | A>V | No |
ClinGen gnomAD |
|
|
CA367208673 rs1562640867 |
172 | I>T | No |
ClinGen Ensembl |
|
|
CA4220770 rs775209756 |
174 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367208660 rs775209756 |
174 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781583135 CA4220743 |
176 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4220742 rs772428489 |
178 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs755310453 CA4220741 |
178 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467996125 CA367207499 |
178 | Q>L | No |
ClinGen TOPMed |
|
|
CA4220740 rs200327644 |
179 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768941742 CA4220739 |
183 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4220738 rs749660774 |
186 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1430844123 CA367207354 |
188 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4220735 rs146107333 |
192 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220734 rs777229484 |
193 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756142076 CA4220710 |
197 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220711 rs766158004 |
197 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 198 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4220708 rs767558385 |
201 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4220705 rs373491776 |
202 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367207120 rs373491776 |
202 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220704 rs373491776 |
202 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200865415 CA4220706 |
202 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1416939696 CA367207110 |
203 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA157126041 rs1056892437 CA367207117 |
203 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA367207111 rs1416939696 |
203 | G>V | No |
ClinGen TOPMed |
|
|
CA4220703 rs775744453 |
204 | R>G | No |
ClinGen ExAC TOPMed |
|
|
CA367207084 rs1446833696 |
205 | D>E | No |
ClinGen gnomAD |
|
|
CA367207069 rs1420447078 |
207 | N>D | No |
ClinGen gnomAD |
|
|
rs1247831875 CA367207046 |
209 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs115316750 CA4220701 |
210 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202089348 CA4220699 |
211 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367207014 rs1322553771 |
212 | S>A | No |
ClinGen gnomAD |
|
|
rs1322553771 CA367207016 |
212 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157126008 rs897251974 |
215 | P>L | No |
ClinGen Ensembl |
|
|
CA367206963 rs1315298983 |
217 | R>K | No |
ClinGen gnomAD |
|
|
CA4220697 rs778418726 |
218 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs781096802 CA4220673 |
219 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367206562 rs1161076515 |
222 | W>G | No |
ClinGen gnomAD |
|
|
CA4220671 rs139199176 |
225 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157125120 rs938305138 |
229 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs928117310 CA157125119 |
230 | C>Y | No |
ClinGen TOPMed |
|
|
rs755213742 CA4220649 |
235 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1317791920 CA367206175 |
235 | G>S | No |
ClinGen gnomAD |
|
|
CA367206160 rs1225695763 |
236 | V>A | No |
ClinGen gnomAD |
|
|
CA4220647 rs766556440 |
237 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766556440 CA367206155 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4220646 rs756559735 |
238 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs768074623 CA4220644 |
240 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA157123332 rs768074623 |
240 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367206106 rs1450260769 |
241 | G>A | No |
ClinGen TOPMed |
|
|
CA157123326 rs921773398 |
242 | V>A | No |
ClinGen Ensembl |
|
|
CA157123327 rs745447415 |
242 | V>I | No |
ClinGen Ensembl |
|
|
CA4220643 rs80187893 |
243 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1409802994 CA367206079 |
244 | Y>C | No |
ClinGen TOPMed |
|
|
CA367206047 rs963341216 |
246 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA157123289 rs757027136 |
248 | F>L | No |
ClinGen Ensembl |
|
|
rs372013469 CA4220619 |
251 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372013469 CA4220620 |
251 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367205722 rs1285898465 |
253 | Q>* | No |
ClinGen gnomAD |
|
|
CA4220618 rs57549546 |
254 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766056088 CA4220617 |
257 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367205697 rs1252821339 |
257 | I>V | No |
ClinGen TOPMed |
|
|
rs1162093209 CA367205679 |
259 | L>F | No |
ClinGen TOPMed |
|
|
CA4220614 rs760203324 |
263 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs143040096 CA367205650 |
264 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143040096 CA4220613 |
264 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220612 VAR_033513 rs3735386 |
266 | A>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs930175521 CA157121770 |
267 | H>R | No |
ClinGen TOPMed |
|
|
rs747906234 CA4220611 |
267 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367205628 rs1366300121 |
268 | F>S | No |
ClinGen gnomAD |
|
|
rs183046097 CA4220610 |
269 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4220609 rs768523499 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749375045 CA4220608 |
271 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367205600 rs1279431077 |
273 | E>K | No |
ClinGen gnomAD |
|
|
CA157121744 rs971834807 |
274 | W>C | No |
ClinGen TOPMed |
|
|
CA4220606 rs756383676 |
274 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1583952734 CA367205584 |
275 | I>L | No |
ClinGen Ensembl |
|
|
CA4220605 rs746127690 |
276 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs960341212 CA157121718 |
277 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374472476 CA4220603 |
278 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220601 rs577974988 |
280 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769753660 CA4220568 |
283 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA367203038 rs1464268298 |
285 | F>V | No |
ClinGen gnomAD |
|
|
rs1376696070 CA367202963 |
286 | I>T | No |
ClinGen gnomAD |
|
|
CA157105252 rs1052900395 |
287 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4220566 rs146981086 |
287 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220567 rs146981086 |
287 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220565 rs771313575 |
289 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747182253 CA4220564 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4220561 rs768307327 |
295 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220562 rs772606211 |
295 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220559 rs755456110 |
296 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377277672 CA367202746 |
297 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351606088 CA367202760 |
297 | D>N | No |
ClinGen gnomAD |
|
|
CA4220558 rs377277672 |
297 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372927648 CA4220556 |
298 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs532074352 CA367202660 |
301 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532074352 CA4220555 |
301 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 302 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4220553 rs758244202 |
303 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220552 rs752475489 |
303 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758244202 CA157105127 |
303 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220550 rs369539683 |
304 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776599837 CA4220548 |
305 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4220546 rs778396908 |
310 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA4220545 rs760808169 |
311 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1020659296 CA157105067 |
312 | V>L | No |
ClinGen Ensembl |
|
|
rs200179795 CA157095211 |
314 | I>F | No |
ClinGen Ensembl |
|
|
CA4220528 rs145235413 |
317 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220527 rs773369283 |
318 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA157095204 rs1041794205 |
319 | I>V | No |
ClinGen Ensembl |
|
|
rs150438169 CA157095200 |
322 | R>C | Variant assessed as Somatic; 4.676e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150438169 CA367199451 |
322 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220524 rs375296715 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375296715 CA4220525 |
322 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150438169 CA4220526 |
322 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220523 rs769102806 |
323 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA367199435 rs1332327386 |
323 | L>S | No |
ClinGen gnomAD |
|
|
CA367199415 rs1397084568 |
324 | W>* | No |
ClinGen gnomAD |
|
|
rs368813922 CA4220522 |
324 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 326 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776031951 CA4220521 |
326 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA4220520 rs140505331 |
327 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220519 rs151240312 |
329 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367199345 rs1177439206 |
329 | C>Y | No |
ClinGen gnomAD |
|
|
CA4220518 rs777229386 |
333 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs777229386 CA157095173 |
333 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1197214531 CA367199252 |
335 | Q>* | No |
ClinGen gnomAD |
|
|
CA4220516 rs747887261 |
340 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024281458 CA157095152 |
340 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs943492558 CA157130573 |
341 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs775761869 CA4220500 |
345 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4220499 rs770312641 |
345 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367211860 rs1352043608 |
346 | N>I | No |
ClinGen Ensembl |
|
|
rs771656372 CA4220496 |
351 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367211823 rs1338991123 |
351 | I>M | No |
ClinGen gnomAD |
|
|
CA157130523 rs368151055 |
353 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs376175306 CA157129598 |
354 | L>S | No |
ClinGen ESP TOPMed |
|
|
rs1384692004 CA367211789 |
355 | S>P | No |
ClinGen TOPMed |
|
|
rs557822538 CA4220480 |
356 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs889945103 CA157129581 |
356 | R>T | No |
ClinGen Ensembl |
|
|
CA367211773 rs1342576127 |
357 | N>K | No |
ClinGen gnomAD |
|
|
rs753087173 CA4220479 |
357 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296475702 CA367211748 |
359 | V>A | No |
ClinGen gnomAD |
|
|
CA4220476 rs777265627 |
361 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777265627 CA4220477 |
361 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761402187 CA4220474 |
362 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1286391128 CA367211697 |
363 | P>S | No |
ClinGen TOPMed |
|
|
CA4220472 rs565644339 |
364 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1562557378 CA367211680 |
364 | A>V | No |
ClinGen Ensembl |
|
|
CA367211674 rs1477972924 |
365 | I>V | No |
ClinGen gnomAD |
|
|
rs78005813 CA4220470 |
366 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220469 rs769777414 |
367 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251468787 CA367211654 |
367 | I>V | No |
ClinGen TOPMed |
|
|
rs1479887834 CA367211628 |
368 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs781200360 CA4220467 |
370 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367211613 rs781200360 |
370 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144383001 CA4220466 |
371 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367211583 rs1218988618 |
372 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA157129470 rs754540294 |
375 | V>G | No |
ClinGen Ensembl |
|
|
rs747140145 CA157129485 |
375 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747140145 CA4220465 |
375 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4220463 rs144889476 |
377 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA157129455 rs972321824 |
377 | S>R | No |
ClinGen TOPMed |
|
| rs866563358 | 378 | G>= | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549563115 CA4220462 |
378 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs953251530 CA157122738 |
380 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200437512 CA4220438 |
380 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1583769916 CA367210641 |
381 | D>A | No |
ClinGen Ensembl |
|
|
CA367210642 rs1359356114 |
381 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4220437 rs377250798 |
382 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367210618 rs1583769895 |
383 | V>A | No |
ClinGen Ensembl |
|
|
rs1393885627 CA367210607 |
384 | P>R | No |
ClinGen gnomAD |
|
|
CA4220434 rs752184445 |
386 | M>I | No |
ClinGen ExAC |
|
|
rs1254361737 CA367210585 |
386 | M>R | No |
ClinGen Ensembl |
|
|
rs765010456 CA4220433 |
387 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157122663 rs929014710 |
390 | E>K | No |
ClinGen Ensembl |
|
|
rs759056561 CA367210540 |
392 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220432 rs759056561 |
392 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306137370 CA367210536 |
393 | Y>S | No |
ClinGen Ensembl |
|
|
rs776320571 CA4220431 |
395 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760519168 CA4220429 |
396 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190128100 CA367210513 |
397 | M>L | No |
ClinGen TOPMed |
|
|
CA4220428 rs773194603 |
397 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4220425 rs778926511 |
400 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA367210484 rs1309049284 |
401 | K>T | No |
ClinGen gnomAD |
|
|
rs1473396067 CA367210472 |
402 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583769588 CA367210447 |
406 | H>P | No |
ClinGen Ensembl |
|
|
CA4220422 rs749523052 |
407 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367210436 rs1583769551 |
408 | P>L | No |
ClinGen Ensembl |
|
|
rs756492790 CA4220420 |
409 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA367210431 rs1461754229 |
409 | N>S | No |
ClinGen TOPMed |
|
|
CA367210409 rs1583769512 |
412 | H>P | No |
ClinGen Ensembl |
|
|
CA367210403 rs1421064363 |
413 | V>F | No |
ClinGen gnomAD |
|
|
CA367210394 rs1562549498 |
414 | I>S | No |
ClinGen Ensembl |
|
|
CA4220418 rs149792324 |
415 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367210383 rs1378394084 |
416 | Y>C | No |
ClinGen gnomAD |
|
|
rs757795394 CA4220417 |
416 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220415 rs376436261 |
419 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257945250 CA367210362 |
419 | P>L | No |
ClinGen gnomAD |
|
|
CA367210346 rs1490273048 |
422 | T>A | No |
ClinGen gnomAD |
|
|
CA157122531 rs550416911 |
422 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550416911 CA4220413 |
422 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157122534 rs550416911 |
422 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367210332 rs1287961831 |
424 | L>P | No |
ClinGen TOPMed |
|
|
CA4220412 rs766043790 |
426 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220411 rs760403749 |
429 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs140099559 CA4220410 |
431 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220409 rs772029792 |
431 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA367210282 rs140099559 |
431 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220408 rs761689958 |
432 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1205807920 CA367210278 |
432 | Y>N | No |
ClinGen TOPMed |
|
|
CA4220407 rs774251193 |
436 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA157114497 rs774886556 |
436 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761565533 CA4220388 |
437 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4220387 rs774329037 |
437 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1435484340 CA367209087 |
439 | N>K | No |
ClinGen gnomAD |
|
|
CA4220386 rs764032835 |
440 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367209074 rs1458506058 |
441 | D>V | No |
ClinGen gnomAD |
|
|
CA367209067 rs1260346143 |
442 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762946125 CA4220384 |
442 | M>V | No |
ClinGen ExAC |
|
|
rs775598838 CA4220383 |
444 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs769927659 CA4220382 |
445 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs746137257 CA4220381 |
445 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367209043 rs1562540172 |
446 | Q>P | No |
ClinGen Ensembl |
|
|
rs546013102 CA4220380 |
449 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4220379 rs771485493 |
450 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747368097 CA367208977 |
455 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220364 rs371233935 |
461 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220363 rs371233935 |
461 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203480719 CA367208919 |
462 | W>* | No |
ClinGen gnomAD |
|
|
rs1233515408 CA367208920 |
462 | W>L | No |
ClinGen gnomAD |
|
|
CA4220362 rs771223490 |
462 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4220361 rs747386590 |
464 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4220360 rs150499149 |
468 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335122733 CA367208867 |
470 | R>Q | No |
ClinGen gnomAD |
|
|
rs374388494 CA4220358 |
470 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779258732 CA4220357 |
473 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755689312 CA4220356 |
474 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008826961 CA157114215 |
475 | E>D | No |
ClinGen TOPMed |
|
|
CA367208439 rs1157570242 |
477 | A>T | No |
ClinGen gnomAD |
|
|
rs1038123642 CA157112219 |
478 | E>G | No |
ClinGen Ensembl |
|
|
rs1400584372 CA367208426 |
478 | E>K | No |
ClinGen gnomAD |
|
|
CA4220337 rs762081334 |
479 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1312800767 CA367208350 |
483 | T>I | No |
ClinGen TOPMed |
|
|
CA367208345 rs769083461 |
484 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369755245 CA157112188 |
485 | K>R | No |
ClinGen Ensembl |
|
|
CA367208286 rs1583740557 |
488 | A>P | No |
ClinGen Ensembl |
|
|
CA367208272 rs1173274751 |
488 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367208236 rs1213600076 |
491 | E>G | No |
ClinGen gnomAD |
|
|
CA367208211 rs1446327517 |
493 | F>V | No |
ClinGen gnomAD |
|
|
rs1290395407 CA367208188 |
495 | N>D | No |
ClinGen gnomAD |
|
|
rs746710569 CA4220329 |
497 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220328 rs777283337 |
498 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752379207 CA4220326 |
500 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370204463 CA4220327 |
500 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779001546 CA4220325 |
501 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420960377 CA367208079 |
502 | D>V | No |
ClinGen TOPMed |
|
|
rs754930395 CA4220324 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA367208046 rs1350951558 |
504 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753997460 CA4220323 |
506 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220321 rs760640919 |
507 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1459305395 CA367205975 |
510 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1459305395 CA367205982 |
510 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367205927 rs1398851326 |
513 | Q>E | No |
ClinGen TOPMed |
|
|
CA4220300 rs780137978 |
516 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312870052 CA367205861 |
516 | G>S | No |
ClinGen gnomAD |
|
|
CA4220297 rs147438510 |
517 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220298 rs147438510 |
517 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757372053 CA4220296 |
519 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367205825 rs1449456681 |
521 | Q>* | No |
ClinGen gnomAD |
|
|
CA4220295 rs142229348 |
522 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367205807 rs776031901 |
524 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4220292 rs776031901 |
524 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA157104943 rs896206611 |
526 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4220290 rs760239433 |
527 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4220291 rs367550364 |
527 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4220288 rs202126000 |
530 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4220289 rs772560359 |
530 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176869562 CA367205761 |
531 | P>S | No |
ClinGen gnomAD |
|
|
rs200467205 CA4220287 |
532 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4220285 rs200308661 |
533 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA367203831 rs751048144 |
535 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220250 rs751048144 |
535 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763520293 CA367203706 |
540 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763520293 CA4220249 |
540 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA157096854 rs947919574 |
541 | D>G | No |
ClinGen TOPMed |
|
|
CA367203686 rs1583695068 |
541 | D>H | No |
ClinGen Ensembl |
|
|
rs1301054817 CA367203590 |
544 | W>* | No |
ClinGen gnomAD |
|
|
rs560388299 CA157096852 |
544 | W>R | No |
ClinGen Ensembl |
|
|
rs769544365 CA4220246 |
546 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs187957676 CA4220247 |
546 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1331147446 CA367203511 |
547 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759358575 CA4220245 |
548 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776443004 CA4220244 |
548 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747121157 CA4220242 |
550 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138811821 CA367203353 |
551 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4220241 rs138811821 CA4220240 |
551 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367203346 rs1261669220 |
552 | P>A | No |
ClinGen TOPMed |
|
|
rs942231604 CA157096783 |
555 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs976755285 CA157096777 |
556 | G>R | No |
ClinGen Ensembl |
|
|
rs966011608 CA157096768 |
557 | K>E | No |
ClinGen Ensembl |
|
|
rs748413588 CA4220239 |
558 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367203145 rs1440707835 |
559 | N>I | No |
ClinGen gnomAD |
|
|
CA4220238 rs370724845 |
560 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367203107 rs370724845 |
560 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 563 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs938725182 CA157096723 |
563 | P>S | No |
ClinGen TOPMed |
|
|
CA367202942 rs1210965442 |
565 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780432735 CA4220234 |
571 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780432735 CA367202672 |
571 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4220232 rs750942616 |
574 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P28039
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.77 | Carboxylic ester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| 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. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyloxyacyl hydrolase activity | Catalysis of the reaction: 3-(acyloxy)acyl group of bacterial toxin = 3-hydroxyacyl group of bacterial toxin + a fatty acid. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| lipopolysaccharide catabolic process | The chemical reactions and pathways resulting in the breakdown of lipopolysaccharides, any of a group of related, structurally complex components of the outer membrane of Gram-negative bacteria. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQSPWKILTV | APLFLLLSLQ | SSASPANDDQ | SRPSLSNGHT | CVGCVLVVSV | IEQLAQVHNS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TVQASMERLC | SYLPEKLFLK | TTCYLVIDKF | GSDIIKLLSA | DMNADVVCHT | LEFCKQNTGQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLCHLYPLPK | ETWKFTLQKA | RQIVKKSPIL | KYSRSGSDIC | SLPVLAKICQ | KIKLAMEQSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PFKDVDSDKY | SVFPTLRGYH | WRGRDCNDSD | ESVYPGRRPN | NWDVHQDSNC | NGIWGVDPKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GVPYEKKFCE | GSQPRGIILL | GDSAGAHFHI | SPEWITASQM | SLNSFINLPT | ALTNELDWPQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSGATGFLDS | TVGIKEKSIY | LRLWKRNHCN | HRDYQNISRN | GASSRNLKKF | IESLSRNKVL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DYPAIVIYAM | IGNDVCSGKS | DPVPAMTTPE | KLYSNVMQTL | KHLNSHLPNG | SHVILYGLPD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GTFLWDNLHN | RYHPLGQLNK | DMTYAQLYSF | LNCLQVSPCH | GWMSSNKTLR | TLTSERAEQL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNTLKKIAAS | EKFTNFNLFY | MDFAFHEIIQ | EWQKRGGQPW | QLIEPVDGFH | PNEVALLLLA |
| 550 | 560 | 570 | |||
| DHFWKKVQLQ | WPQILGKENP | FNPQIKQVFG | DQGGH |