Q9NQZ7
Gene name |
ENTPD7 (LALP1) |
Protein name |
Ectonucleoside triphosphate diphosphohydrolase 7 |
Names |
NTPDase 7, Lysosomal apyrase-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57089 |
EC number |
3.6.1.15: In phosphorus-containing anhydrides |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NQZ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NQZ7-F1 | Predicted | AlphaFoldDB |
473 variants for Q9NQZ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs550879549 CA5641465 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5641466 rs768540983 |
3 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195847902 CA378084344 |
3 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5641496 rs772305050 |
5 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641495 rs772305050 |
5 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5641497 rs201964022 |
8 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368414215 CA212790896 |
10 | C>R | No |
ClinGen Ensembl |
|
|
CA5641500 rs759820848 |
14 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1325261360 CA378086988 |
16 | F>L | No |
ClinGen gnomAD |
|
|
rs1204367405 CA378087004 |
17 | T>P | No |
ClinGen TOPMed |
|
|
rs765731958 CA5641501 |
17 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA212790929 rs936575752 |
18 | V>A | No |
ClinGen gnomAD |
|
|
CA5641503 rs763499616 |
19 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1484743292 CA378087035 |
20 | T>A | No |
ClinGen TOPMed |
|
|
rs376539042 CA5641504 |
20 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314828676 CA378087075 |
21 | V>A | No |
ClinGen gnomAD |
|
|
rs755748626 CA5641506 |
22 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641508 rs753602972 |
26 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143637078 CA5641509 |
26 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5641510 rs143637078 |
26 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM913771 rs748017544 CA5641511 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1024519460 CA212790964 |
28 | R>W | No |
ClinGen TOPMed |
|
|
rs35229854 CA5641513 |
29 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1416634918 CA378087212 |
30 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5641515 rs147747082 |
32 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378087268 rs147747082 |
32 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA212791006 rs930137089 |
35 | F>Y | No |
ClinGen Ensembl |
|
|
CA5641519 rs770032562 |
44 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641518 rs150267092 |
44 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378087591 rs775962695 |
47 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378087595 COSM1716982 rs1373596700 |
47 | I>T | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5641520 rs775962695 |
47 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM913772 CA378087653 rs1319466916 |
50 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA378087685 rs1214083170 |
51 | H>R | No |
ClinGen TOPMed |
|
|
rs139286607 CA5641524 |
51 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442605450 CA378087716 |
52 | W>C | No |
ClinGen gnomAD |
|
|
rs1211296721 CA378087731 |
53 | S>N | No |
ClinGen gnomAD |
|
|
CA5641526 rs766015292 |
57 | P>R | No |
ClinGen ExAC |
|
|
rs370286436 CA5641527 |
58 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5641528 rs370286436 |
58 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641529 rs61729539 |
58 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758400449 CA5641531 |
61 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777855779 CA5641532 |
61 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641534 rs756362966 |
63 | E>K | Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1177981868 CA378087953 |
64 | R>K | No |
ClinGen gnomAD |
|
|
CA378091080 rs1286958548 |
64 | R>S | No |
ClinGen gnomAD |
|
|
CA5641549 rs764070287 |
65 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641550 rs751516229 |
68 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs751516229 CA378091140 |
68 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs757258139 CA5641551 |
68 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378091146 rs1362406037 |
69 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1398826044 CA378091191 |
74 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1398826044 CA378091190 |
74 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5641554 rs756231191 |
77 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA378091232 rs1300869156 |
77 | T>S | No |
ClinGen gnomAD |
|
|
CA378091236 rs1234061955 |
78 | E>K | No |
ClinGen gnomAD |
|
|
CA378091304 rs1442187370 |
82 | L>V | No |
ClinGen TOPMed |
|
|
rs780260445 CA5641555 |
85 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA212801900 rs372561364 |
87 | V>A | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 88 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1203832221 | 88 | V>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223831549 CA378091429 |
90 | C>R | No |
ClinGen gnomAD |
|
|
rs749614688 CA5641556 |
90 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1590043456 CA378091455 |
93 | S>R | No |
ClinGen Ensembl |
|
|
CA378091452 rs1179042193 |
93 | S>T | No |
ClinGen gnomAD |
|
|
rs775993892 CA5641561 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199591970 CA5641560 |
96 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590043504 TCGA novel CA378091472 |
97 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs200759032 CA212801942 |
99 | V>L | No |
ClinGen gnomAD |
|
|
CA5641564 CA378091557 COSM74520 rs764753437 |
108 | N>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA5641565 rs775301582 |
110 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA212801958 rs1004447088 |
111 | D>N | No |
ClinGen Ensembl |
|
|
rs1480297817 CA378091588 |
113 | L>P | No |
ClinGen TOPMed |
|
|
rs763947377 CA5641567 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641568 rs751466685 |
116 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5641570 rs767501634 |
121 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767501634 CA378091644 |
121 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368620286 CA5641571 |
121 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368620286 CA5641572 |
121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780203334 CA5641573 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307142921 CA378091698 |
126 | V>M | No |
ClinGen TOPMed |
|
|
CA378091730 rs1240250312 |
128 | K>E | No |
ClinGen gnomAD |
|
|
rs1305138457 CA378091792 |
132 | P>T | No |
ClinGen TOPMed |
|
|
rs562711164 CA212802013 |
133 | G>* | No |
ClinGen Ensembl |
|
|
rs761468163 CA5641605 |
133 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1564630192 CA378092053 |
136 | A>V | No |
ClinGen Ensembl |
|
|
CA378092132 rs1324923427 |
140 | T>A | No |
ClinGen gnomAD |
|
|
CA212802270 rs1014921447 |
141 | P>T | No |
ClinGen TOPMed |
|
|
rs772921610 CA5641607 |
143 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5641608 rs760658234 |
145 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs61742499 CA212802300 |
145 | S>R | No |
ClinGen Ensembl |
|
|
rs1440297930 CA378092269 |
146 | D>N | No |
ClinGen TOPMed |
|
|
rs759251122 CA5641609 |
146 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759619517 CA5641611 |
147 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA5641610 rs776636403 |
147 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5641612 rs765391236 |
148 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187782502 CA378092352 |
149 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs765221261 CA5641613 COSM913773 |
149 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA378092396 rs1426420430 |
150 | P>L | No |
ClinGen TOPMed |
|
|
rs1268985332 CA378092503 |
153 | S>R | No |
ClinGen TOPMed |
|
|
rs1028414398 CA212802332 |
155 | A>T | No |
ClinGen Ensembl |
|
|
CA378092605 rs1317011908 |
156 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1199205503 CA378092650 |
158 | H>P | No |
ClinGen gnomAD |
|
|
CA378092669 rs1437015705 |
159 | V>M | No |
ClinGen gnomAD |
|
|
rs757780814 CA5641617 |
160 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5641616 rs751925424 |
160 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748766209 CA5641619 |
161 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA378092857 rs1201145553 |
164 | H>Q | No |
ClinGen TOPMed |
|
|
CA5641620 rs754559411 |
165 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1340659907 CA378092895 |
166 | E>D | No |
ClinGen TOPMed |
|
|
rs778338201 CA5641621 |
167 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1251154639 CA378092917 |
169 | L>F | No |
ClinGen TOPMed |
|
|
CA5641622 rs747805629 |
170 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590043827 CA378092963 |
176 | G>S | No |
ClinGen Ensembl |
|
|
CA5641624 rs773050855 |
177 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378092967 rs773050855 |
177 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378092977 rs1233767551 |
178 | R>K | No |
ClinGen TOPMed |
|
|
CA5641625 rs139519525 |
179 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212802427 rs267602335 |
181 | P>S | No |
ClinGen Ensembl |
|
|
rs1481191608 CA378094399 |
185 | Q>* | No |
ClinGen gnomAD |
|
|
CA378094456 rs370666357 |
188 | I>L | No |
ClinGen ESP gnomAD |
|
|
CA212805600 rs370666357 |
188 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1418951146 CA378094491 |
190 | A>T | No |
ClinGen gnomAD |
|
|
CA5641648 rs770686860 |
191 | D>N | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378094521 rs1420026688 |
192 | L>I | No |
ClinGen gnomAD |
|
|
rs928190238 CA212805639 |
192 | L>Q | No |
ClinGen TOPMed |
|
|
rs776446713 CA5641649 |
195 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164546473 CA378094579 |
196 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA378094599 rs1355307487 |
197 | P>L | No |
ClinGen gnomAD |
|
|
rs991002328 CA212805648 |
198 | L>M | No |
ClinGen TOPMed |
|
|
CA5641652 rs775580618 |
199 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372544199 CA378094621 |
199 | E>K | No |
ClinGen gnomAD |
|
|
CA378094641 rs201287793 |
200 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201287793 CA5641653 |
200 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1332107844 CA378094650 |
201 | D>N | No |
ClinGen gnomAD |
|
|
CA212805695 rs200454165 |
203 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA378094682 rs200454165 |
203 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 206 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409638737 CA378094730 |
206 | Q>P | No |
ClinGen TOPMed |
|
|
CA378094744 rs1207090942 |
207 | S>Y | No |
ClinGen gnomAD |
|
|
rs1564631619 CA378094774 |
209 | A>V | No |
ClinGen Ensembl |
|
|
rs1231473196 CA378094778 |
210 | E>Q | No |
ClinGen gnomAD |
|
|
CA5641656 rs756734808 |
211 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5641655 rs756734808 |
211 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1189350097 CA378094835 |
214 | G>E | No |
ClinGen gnomAD |
|
|
rs767963453 CA5641657 |
217 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310163276 CA378095057 |
218 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5641670 rs749339786 |
219 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762122699 CA5641673 |
221 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772483140 CA5641674 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433961243 CA378095108 |
222 | W>L | No |
ClinGen gnomAD |
|
|
rs773655463 CA5641675 |
222 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760954750 CA5641676 |
223 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766872009 CA5641677 |
224 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs562789603 CA5641679 |
226 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641678 rs754327990 |
226 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641680 rs763586639 |
231 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751125972 CA5641681 |
232 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5641682 rs756842180 |
233 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1421340165 CA378096320 |
234 | H>Y | No |
ClinGen TOPMed |
|
|
rs1285562150 CA378096355 |
235 | E>G | No |
ClinGen gnomAD |
|
|
rs1158052179 CA378096377 |
236 | D>V | No |
ClinGen TOPMed |
|
|
CA212806998 rs756817450 |
237 | E>K | No |
ClinGen Ensembl |
|
|
CA378096422 rs1267520706 |
238 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1590049356 CA378096418 |
238 | S>T | No |
ClinGen Ensembl |
|
|
CA378096433 rs1167033345 |
240 | A>D | No |
ClinGen TOPMed |
|
|
rs555177484 CA5641698 |
240 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1182213173 CA378096489 |
248 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378096494 rs1196342307 |
249 | G>E | No |
ClinGen gnomAD |
|
|
CA5641703 rs767106170 |
250 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641702 rs761342650 |
250 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1590049398 CA378096500 |
251 | R>G | No |
ClinGen Ensembl |
|
| rs1418033504 | 252 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755830723 CA212808266 |
253 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641705 rs755830723 |
253 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378096523 rs1590049418 |
254 | V>G | No |
ClinGen Ensembl |
|
|
rs753724661 CA5641707 |
256 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329904442 CA378096548 |
258 | D>E | No |
ClinGen gnomAD |
|
|
CA378096545 rs1483302579 |
258 | D>G | No |
ClinGen TOPMed |
|
|
CA5641708 rs754816498 |
259 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs748202130 CA5641710 |
261 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378096572 rs758575613 |
262 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5641711 rs758575613 |
262 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778053103 CA5641712 |
263 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5641713 rs747188963 |
264 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435866095 CA378096603 |
267 | A>V | No |
ClinGen gnomAD |
|
|
CA212808303 rs1041614029 |
268 | Y>C | No |
ClinGen TOPMed |
|
|
rs369321164 CA5641716 |
269 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378096659 rs1328874098 |
271 | P>L | No |
ClinGen TOPMed |
|
|
rs770245006 CA5641717 |
271 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5641719 rs763499551 |
272 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA378096706 rs1462127474 |
274 | T>N | No |
ClinGen gnomAD |
|
|
CA5641721 VAR_030287 rs11190245 |
276 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378096736 rs1331939448 |
276 | V>I | No |
ClinGen gnomAD |
|
|
rs771682518 CA212808310 |
277 | L>F | No |
ClinGen Ensembl |
|
|
rs1408556136 CA378096781 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs772845848 CA5641722 |
279 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760237478 CA5641743 |
284 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs772540029 CA5641742 |
284 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5641744 rs770452082 |
286 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1349967872 CA378097294 |
287 | I>T | No |
ClinGen gnomAD |
|
|
rs776370975 CA5641746 |
289 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378097345 rs1205442940 |
291 | E>D | No |
ClinGen TOPMed |
|
|
CA5641747 rs759313528 |
292 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641749 rs752609712 |
297 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1018738513 CA212813229 |
299 | Q>* | No |
ClinGen Ensembl |
|
|
rs369563076 CA5641750 |
300 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378097473 rs764094290 |
301 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5641751 rs764094290 |
301 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1352393566 CA378097534 |
304 | V>G | No |
ClinGen TOPMed |
|
|
rs987855333 CA212813237 |
304 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174634561 CA378097581 |
306 | R>S | No |
ClinGen gnomAD |
|
|
rs757378688 CA5641753 |
307 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1021265840 CA212813260 |
311 | T>I | No |
ClinGen TOPMed |
|
|
CA378097681 rs1021265840 |
311 | T>N | No |
ClinGen TOPMed |
|
|
rs1590054413 CA378097723 |
314 | G>R | No |
ClinGen Ensembl |
|
|
CA378097774 rs1300551269 |
316 | G>E | No |
ClinGen gnomAD |
|
|
CA5641759 rs139305536 |
316 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1240586164 CA378097849 |
320 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1240586164 CA378097855 |
320 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746457576 CA5641762 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641761 rs202230145 |
321 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641763 rs770456537 |
323 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200492698 CA5641764 |
323 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs769580214 CA5641766 COSM199803 |
325 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5641767 rs775354653 |
328 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA212813355 rs112158716 |
329 | L>P | No |
ClinGen Ensembl |
|
|
CA5641768 rs762868906 |
330 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs763886692 CA5641769 |
331 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011275865 CA212813372 |
333 | L>F | No |
ClinGen TOPMed |
|
|
rs1438479522 CA378098050 |
333 | L>P | No |
ClinGen gnomAD |
|
|
rs761695011 CA5641771 |
334 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs146820785 CA212813390 |
337 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378098120 rs1393139221 |
337 | R>K | No |
ClinGen gnomAD |
|
|
CA212814372 rs74152718 CA5641790 |
338 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378098419 rs1207022289 |
341 | Q>E | No |
ClinGen gnomAD |
|
|
CA5641791 rs768465011 |
341 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5641792 rs375306396 |
343 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5641793 rs761796742 |
346 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5641794 rs187682149 |
346 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs922426015 CA212814398 |
346 | S>R | No |
ClinGen Ensembl |
|
|
CA5641795 rs771551376 |
347 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766541754 CA378098459 |
348 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766541754 CA5641797 |
348 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166435382 CA378098502 |
354 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298123332 CA378098531 |
358 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs903292723 CA212814412 |
359 | G>E | No |
ClinGen Ensembl |
|
|
rs61738505 CA5641799 |
360 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378098549 rs765633795 |
362 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5641800 rs765633795 |
362 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA212814429 rs78883140 |
363 | V>G | No |
ClinGen Ensembl |
|
|
rs1356984913 CA378098555 |
363 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA378098563 rs1446618805 |
364 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5641802 rs753065700 |
365 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5641804 rs778451819 |
366 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212814472 COSM536877 rs972834758 |
367 | N>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1402054677 CA378098587 |
368 | S>G | No |
ClinGen TOPMed |
|
|
CA5641805 rs200556307 |
371 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5641806 rs760320524 |
372 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768250675 CA5641808 |
374 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209459742 COSM1504288 CA378098628 |
374 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 376 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242942064 CA378098647 |
377 | G>E | No |
ClinGen gnomAD |
|
|
rs1013589692 CA212814495 |
378 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378098679 rs1389401722 |
382 | C>G | No |
ClinGen gnomAD |
|
|
rs1564635515 CA378098687 |
383 | G>R | No |
ClinGen Ensembl |
|
|
CA5641811 CA5641810 rs747900647 |
385 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs774137952 CA5641809 |
385 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378098699 rs1454538091 |
385 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378098715 rs773157675 CA5641813 |
387 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413438647 CA378098716 |
388 | P>T | No |
ClinGen gnomAD |
|
|
rs1185449007 CA378098740 |
392 | R>C | No |
ClinGen TOPMed |
|
|
rs759793937 CA5641816 COSM3686465 |
392 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs986723325 CA212814533 |
393 | S>C | No |
ClinGen TOPMed |
|
|
CA378098752 rs1364988564 |
394 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378098751 rs1364988564 |
394 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5641819 rs372846468 |
395 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590058456 CA378098756 |
395 | T>P | No |
ClinGen Ensembl |
|
|
CA5641818 rs372846468 |
395 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1343436492 CA378098762 |
396 | S>C | No |
ClinGen gnomAD |
|
|
CA5641820 rs557257815 |
399 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752079975 CA5641821 |
401 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754592693 CA5641825 |
403 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs778461277 CA5641826 |
403 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753300933 CA5641824 |
403 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195217552 CA378098866 |
404 | Y>* | No |
ClinGen gnomAD |
|
|
rs747927998 CA5641827 |
404 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378098855 rs747927998 |
404 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368809171 CA5641828 |
406 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378098886 rs1244932933 |
406 | S>T | No |
ClinGen gnomAD |
|
|
rs776719484 CA378098921 |
408 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641831 rs770917437 |
408 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs146917199 CA5641830 |
408 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378098925 rs1394716596 |
409 | D>N | No |
ClinGen gnomAD |
|
|
CA378098984 rs1325881704 |
412 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM913778 rs759561702 CA5641833 |
414 | E>K | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5641836 rs141762300 |
417 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5641838 rs764542399 |
419 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641840 rs762345381 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA378099117 rs1590058657 |
421 | F>V | No |
ClinGen Ensembl |
|
|
CA378099140 rs1590058678 |
423 | Y>F | No |
ClinGen Ensembl |
|
|
rs753340088 CA5641842 |
424 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182506905 CA378099172 |
428 | V>M | No |
ClinGen gnomAD |
|
|
rs555052941 CA5641845 |
430 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641846 rs778524683 |
430 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752266858 CA5641847 |
432 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5641848 rs758101413 |
434 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641849 rs374494342 COSM913779 |
434 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378099260 rs1197931722 |
435 | Y>C | No |
ClinGen TOPMed |
|
|
rs770792937 CA5641851 |
435 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1250990140 CA378099301 |
437 | G>E | No |
ClinGen TOPMed |
|
|
rs879255416 RCV000239159 |
438 | P>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 442 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212814684 rs781507848 |
443 | A>T | No |
ClinGen Ensembl |
|
|
rs781027538 CA5641853 |
443 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5641854 rs183633106 |
444 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769743709 CA5641855 |
445 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751195367 CA5641887 |
448 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378099539 rs1564636535 |
448 | C>G | No |
ClinGen Ensembl |
|
|
CA378099565 rs1247572317 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs1362830144 CA378099569 |
452 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1362830144 CA378099571 |
452 | W>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182321152 CA5641889 |
453 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs182321152 CA5641890 |
453 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378099584 rs1590062270 |
454 | V>G | No |
ClinGen Ensembl |
|
|
rs1313831605 CA378099579 |
454 | V>I | No |
ClinGen gnomAD |
|
|
rs1230451286 CA378099588 |
455 | L>P | No |
ClinGen gnomAD |
|
|
rs147079897 CA212815834 |
457 | Q>* | No |
ClinGen ESP TOPMed |
|
|
rs1254834466 COSM3806242 CA378099617 |
459 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1350759097 CA378099636 |
462 | G>C | No |
ClinGen gnomAD |
|
|
CA378099634 rs1350759097 |
462 | G>S | No |
ClinGen gnomAD |
|
|
rs1463853923 CA378099663 |
466 | S>* | No |
ClinGen gnomAD |
|
|
rs1370606547 CA378099673 |
467 | H>Q | No |
ClinGen TOPMed |
|
|
rs749340512 CA5641893 |
469 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378099687 rs1308033746 |
470 | E>K | No |
ClinGen TOPMed |
|
|
rs572960933 CA5641894 |
471 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5641896 rs138037225 |
472 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5641895 rs138037225 |
472 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378099702 rs1197367688 |
472 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779129729 CA5641915 |
475 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5641917 rs758489093 |
480 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641920 rs771309093 |
482 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs747292114 CA5641919 |
482 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219778509 CA378099789 |
483 | M>V | No |
ClinGen gnomAD |
|
|
CA5641921 rs781598552 |
485 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA378099817 rs1483632428 |
486 | V>D | No |
ClinGen gnomAD |
|
|
CA5641922 rs746373610 |
487 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA378099829 rs1372200616 |
488 | H>Q | No |
ClinGen TOPMed |
|
|
CA5641923 rs538030904 |
488 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5641924 rs773795882 |
492 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771584461 CA5641926 |
494 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1230933537 CA378099870 |
494 | P>H | No |
ClinGen TOPMed |
|
|
CA5641927 rs772888761 |
495 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641928 rs760293342 |
496 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA212816865 rs1027956125 |
501 | R>G | No |
ClinGen gnomAD |
|
|
rs1465827116 CA378099915 |
501 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378099914 rs1027956125 |
501 | R>W | No |
ClinGen gnomAD |
|
|
CA5641930 rs556343062 |
502 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5641929 rs556343062 |
502 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378099935 rs1431624299 |
504 | Q>H | No |
ClinGen gnomAD |
|
|
rs759476991 CA5641931 |
505 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378099942 rs1369457717 |
506 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378099940 rs1369457717 |
506 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5641933 rs373982470 |
507 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 507 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758532534 CA5641934 |
508 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777769000 CA5641935 |
508 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs751797515 CA5641936 |
509 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5641937 rs377697566 |
509 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378099985 rs1235689604 |
513 | W>R | No |
ClinGen TOPMed |
|
|
rs138413355 COSM1345231 CA5641938 |
514 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1590064929 CA378100002 |
515 | L>R | No |
ClinGen Ensembl |
|
|
rs770239059 CA5641940 |
518 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1014848301 CA212816937 |
520 | Y>C | No |
ClinGen TOPMed |
|
|
rs749800930 CA5641943 |
523 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5641944 rs201017032 |
523 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378100053 rs1395505713 |
524 | F>S | No |
ClinGen TOPMed |
|
|
rs1248477072 CA378100052 |
524 | F>V | No |
ClinGen gnomAD |
|
|
CA5641946 rs377604794 |
526 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5641965 rs746528122 |
531 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374555068 CA5641963 |
531 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378100210 rs1439222277 |
533 | E>D | No |
ClinGen TOPMed |
|
|
CA378100215 rs1237709425 |
534 | G>D | No |
ClinGen gnomAD |
|
|
rs553461931 CA5641967 |
536 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553461931 CA5641966 |
536 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5641969 rs745552200 |
536 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641968 rs745552200 |
536 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775220542 CA5641970 |
537 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs146275364 CA5641971 |
539 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437880447 CA378100247 |
540 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs368485625 CA5641972 |
540 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA378100250 rs1423361028 |
541 | S>G | No |
ClinGen gnomAD |
|
|
CA5641973 rs774442084 |
543 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200282153 CA5641974 |
544 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM239711 rs767625155 CA5641975 |
544 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA378100280 rs1289247058 |
545 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1331419393 CA378100282 |
545 | L>P | No |
ClinGen gnomAD |
|
|
rs1289247058 CA378100279 |
545 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378100298 rs1267339709 |
548 | V>I | No |
ClinGen gnomAD |
|
|
CA378100306 rs1451950847 |
549 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5641978 rs756384852 |
552 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756384852 CA5641977 |
552 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641979 rs754156188 |
553 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755454118 CA5641980 |
554 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs779307564 CA5641981 |
556 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746475001 CA5641982 |
558 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745515190 CA5641985 |
560 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5641984 rs371471210 |
560 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5641983 rs371471210 |
560 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5641986 rs769340182 |
561 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA378100390 rs1564638138 |
562 | L>P | No |
ClinGen Ensembl |
|
|
rs749062328 CA5641988 |
563 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5641991 rs761788182 |
565 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs774126376 CA5641990 |
565 | I>V | No |
ClinGen ExAC |
|
|
rs772125485 CA5641992 |
566 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5641993 rs773346573 |
568 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA378100421 rs1590067658 |
568 | Y>S | No |
ClinGen Ensembl |
|
|
rs1456133920 CA378100432 |
570 | L>V | No |
ClinGen TOPMed |
|
|
rs183766876 CA378100438 |
571 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA212817900 rs183766876 |
571 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs760817453 CA5641994 |
571 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA378100439 rs766522075 |
572 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5641997 rs754180109 |
573 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754180109 CA5641996 |
573 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5641998 rs61738520 COSM536874 |
573 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA212817903 rs61738520 |
573 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181065342 CA378100447 |
574 | R>* | No |
ClinGen gnomAD |
|
|
CA212817909 rs1013401025 |
574 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378100458 rs1165308056 |
576 | H>D | No |
ClinGen gnomAD |
|
|
rs1412273073 CA378100460 |
576 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378100463 rs1590067748 |
576 | H>Q | No |
ClinGen Ensembl |
|
|
rs1412273073 CA378100462 |
576 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753230686 CA5641999 |
578 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378100475 rs200214468 |
578 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5642000 rs200214468 |
578 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA212817923 rs200382880 |
579 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs780786120 CA5642001 |
581 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780786120 CA378100489 |
581 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642002 rs150584095 |
581 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378100509 rs1380703981 |
584 | A>V | No |
ClinGen TOPMed |
|
|
rs1037673510 CA212817946 |
587 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378100537 rs1229116834 |
589 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA378100538 rs1229116834 |
589 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378100555 rs1276652517 |
591 | L>P | No |
ClinGen gnomAD |
|
|
CA212817961 rs200840103 |
592 | E>* | No |
ClinGen TOPMed |
|
|
rs200840103 CA378100557 COSM3790393 |
592 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA378100560 rs1590067866 |
592 | E>V | No |
ClinGen Ensembl |
|
|
CA378100575 rs1262029724 |
594 | V>G | No |
ClinGen Ensembl |
|
|
rs1590067875 CA378100583 |
595 | V>G | No |
ClinGen Ensembl |
|
|
CA378100595 rs1256442141 |
597 | M>I | No |
ClinGen gnomAD |
|
|
CA5642005 rs201253967 |
597 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378100591 rs1482637651 |
597 | M>V | No |
ClinGen TOPMed |
|
|
rs768314051 CA5642006 |
598 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378100606 rs1184961124 |
599 | G>R | No |
ClinGen gnomAD |
|
|
CA5642007 rs778738545 |
600 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778738545 CA5642008 |
600 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5642010 rs773217072 |
603 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5642011 rs760691867 |
604 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760691867 CA5642012 |
604 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9NQZ7
No regional properties for Q9NQZ7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NQZ7 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.1.15 | In phosphorus-containing anhydrides |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| 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. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| CTPase activity | Catalysis of the reaction: CTP + H2O = CDP + H+ + phosphate. May or may not be coupled to another reaction. |
| GDP phosphatase activity | Catalysis of the reaction: GDP + H2O = GMP + phosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| metal ion binding | Binding to a metal ion. |
| nucleoside diphosphate phosphatase activity | Catalysis of the reaction: a nucleoside diphosphate + H2O = a nucleoside monophosphate + phosphate. |
| ribonucleoside triphosphate phosphatase activity | Catalysis of the reaction: a ribonucleoside triphosphate + H2O = a ribonucleoside diphosphate + H+ + phosphate. |
| UDP phosphatase activity | Catalysis of the reaction: UDP + H2O = UMP + phosphate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| CTP catabolic process | The chemical reactions and pathways resulting in the breakdown of CTP, cytidine 5'-triphosphate. |
| GTP metabolic process | The chemical reactions and pathways involving GTP, guanosine triphosphate. |
| nucleobase-containing small molecule catabolic process | The chemical reactions and pathways resulting in the breakdown of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. |
| nucleoside diphosphate catabolic process | The chemical reactions and pathways resulting in the breakdown of a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. |
| regulation of immune response | Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. |
| T-helper 17 cell differentiation | The process in which a relatively unspecialized T cell acquires the specialized features of a T-helper 17 (Th17) cell. A Th17 cell is a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17. |
| UDP catabolic process | The chemical reactions and pathways resulting in the breakdown of UDP, uridine (5'-)diphosphate. |
| UTP catabolic process | The chemical reactions and pathways resulting in the breakdown of UTP, uridine (5'-)triphosphate. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P55772 | Entpd1 | Ectonucleoside triphosphate diphosphohydrolase 1 | Mus musculus (Mouse) | PR |
| Q3TCT4 | Entpd7 | Ectonucleoside triphosphate diphosphohydrolase 7 | Mus musculus (Mouse) | PR |
| P97687 | Entpd1 | Ectonucleoside triphosphate diphosphohydrolase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARISFSYLC | PASWYFTVPT | VSPFLRQRVA | FLGLFFISCL | LLLMLIIDFR | HWSASLPRDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QYERYLARVG | ELEATDTEDP | NLNYGLVVDC | GSSGSRIFVY | FWPRHNGNPH | DLLDIKQMRD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RNSQPVVKKI | KPGISAMADT | PEHASDYLRP | LLSFAAAHVP | VKKHKETPLY | ILCTAGMRLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PERKQLAILA | DLVKDLPLEF | DFLFSQSQAE | VISGKQEGVY | AWIGINFVLG | RFDHEDESDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EATQELAAGR | RRTVGILDMG | GASLQIAYEV | PTSTSVLPAK | QEEAAKILLA | EFNLGCDVQH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEHVYRVYVT | TFLGFGGNFA | RQRYEDLVLN | ETLNKNRLLG | QKTGLSPDNP | FLDPCLPVGL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDVVERNSQV | LHVRGRGDWV | SCGAMLSPLL | ARSNTSQASL | NGIYQSPIDF | NNSEFYGFSE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FFYCTEDVLR | IGGRYHGPTF | AKAAQDYCGM | AWSVLTQRFK | NGLFSSHADE | HRLKYQCFKS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AWMYQVLHEG | FHFPYDYPNL | RTAQLVYDRE | VQWTLGAILY | KTRFLPLRDL | RQEGVRQAHG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SWFRLSFVYN | HYLFFACILV | VLLAIFLYLL | RLRRIHHRQT | RASAPLDLLW | LEEVVPMMGV |
| QVGP |