Q9NW82
PR
Gene name |
WDR70 |
Protein name |
WD repeat-containing protein 70 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55100 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9NW82
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6ZYM | EM | 340 A | p | 1-654 | PDB |
| 7A5P | EM | 500 A | p | 1-654 | PDB |
| AF-Q9NW82-F1 | Predicted | AlphaFoldDB |
438 variants for Q9NW82
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3240530 rs747865663 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3240531 rs771823178 |
3 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359528340 rs771823178 |
3 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359528339 rs771823178 |
3 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240534 rs574131159 |
4 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574131159 CA359528344 |
4 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3240533 rs760410149 |
4 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1251202735 CA359528347 |
5 | G>R | No |
ClinGen gnomAD |
|
|
rs776444993 CA3240535 |
6 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA359528367 rs1248854280 |
7 | S>G | No |
ClinGen gnomAD |
|
|
CA359528383 rs1474602507 |
8 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759673295 CA3240536 |
9 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204999779 CA359528496 |
10 | T>I | No |
ClinGen gnomAD |
|
|
CA3240570 rs549822170 |
14 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549822170 CA3240569 |
14 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3240574 rs535598828 |
17 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3240575 rs535598828 |
17 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359528679 rs1372746007 |
17 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761981506 CA3240576 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3240579 rs761062481 |
22 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1042444423 CA117112838 |
25 | M>V | No |
ClinGen TOPMed |
|
|
CA359528736 rs1310812215 |
26 | G>S | No |
ClinGen gnomAD |
|
|
rs1243097968 CA359528749 |
28 | T>A | No |
ClinGen TOPMed |
|
|
rs1581235725 CA359528762 |
30 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777088441 CA3240599 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA117114012 rs569699002 |
35 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA359528956 rs569699002 |
35 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3240601 rs368242222 |
36 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145123201 CA3240602 |
37 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 40 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430800698 CA359529044 |
42 | M>T | No |
ClinGen TOPMed |
|
|
rs533004999 CA117114057 |
42 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1394300067 CA359529066 |
45 | Q>* | No |
ClinGen gnomAD |
|
|
CA117114073 rs11542435 |
45 | Q>R | No |
ClinGen Ensembl |
|
|
CA359529077 rs1238234916 |
46 | T>I | No |
ClinGen gnomAD |
|
|
CA117114086 rs745395175 |
47 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3240603 rs745395175 |
47 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs772078372 CA117114095 |
47 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772078372 CA359529078 |
47 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1482451668 CA359529082 |
48 | R>K | No |
ClinGen TOPMed |
|
|
CA3240604 rs767219148 |
50 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1282058656 CA359529095 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs1211071024 CA359529100 |
51 | V>M | No |
ClinGen TOPMed |
|
|
rs201422988 CA3240605 |
54 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359529122 rs201422988 |
54 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240606 rs755971348 |
55 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359529127 rs755971348 |
55 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780037250 CA359529128 |
55 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780037250 CA3240607 |
55 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359529150 rs1171494253 |
59 | E>Q | No |
ClinGen gnomAD |
|
|
rs1199852516 CA359529171 |
60 | A>T | No |
ClinGen TOPMed |
|
|
rs371273924 CA3240629 |
61 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560315842 CA117121069 |
62 | E>A | No |
ClinGen 1000Genomes |
|
|
rs560315842 CA117121089 |
62 | E>V | No |
ClinGen 1000Genomes |
|
|
rs752741154 CA3240631 |
64 | E>D | No |
ClinGen ExAC |
|
|
rs1053768151 CA117121091 |
64 | E>K | No |
ClinGen Ensembl |
|
|
CA3240632 rs758439049 |
65 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359529210 rs1223589229 |
66 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs892556006 CA117121096 |
67 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359529219 rs1258775115 |
67 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777876910 CA3240633 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA359529273 rs1213346478 |
74 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359529294 rs1181412515 |
77 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA117121148 rs1051562116 |
80 | I>T | No |
ClinGen TOPMed |
|
|
CA3240638 rs746160216 |
81 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359529324 rs1581244695 |
81 | E>K | No |
ClinGen Ensembl |
|
|
rs770250316 CA3240639 |
82 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1275930268 CA359529353 |
86 | R>G | No |
ClinGen TOPMed |
|
|
CA3240641 rs371503084 |
88 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117121182 rs371503084 |
88 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771687733 CA3240643 |
91 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3240644 rs772800279 |
92 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117121202 rs545784095 |
93 | C>G | No |
ClinGen Ensembl |
|
|
rs1412479201 CA359529423 |
96 | S>L | No |
ClinGen gnomAD |
|
|
CA117121204 rs893837268 |
97 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1218882605 CA359529457 |
100 | D>Y | No |
ClinGen gnomAD |
|
|
rs76862043 CA3240665 |
101 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1419485796 CA359529487 |
104 | S>N | No |
ClinGen TOPMed |
|
|
CA117124332 rs956199494 |
105 | E>G | No |
ClinGen gnomAD |
|
|
CA359529493 rs1314133524 |
105 | E>Q | No |
ClinGen gnomAD |
|
|
CA3240666 rs760209253 |
106 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359529500 rs760209253 |
106 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458611534 CA359529506 |
107 | E>K | No |
ClinGen gnomAD |
|
|
CA3240667 rs369203926 |
108 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240668 rs776147147 |
109 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3240670 rs565349459 |
111 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3240669 rs759279236 |
111 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1561836434 CA359529549 |
113 | S>Y | No |
ClinGen Ensembl |
|
|
CA3240672 rs752492254 |
114 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240673 rs762737997 |
115 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1466102342 CA359529560 |
115 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359529561 rs1466102342 |
115 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs763960960 CA3240674 |
117 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240675 rs61742650 |
119 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240677 rs767675142 |
121 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359529612 rs1257541175 |
123 | P>S | No |
ClinGen gnomAD |
|
|
CA359529617 rs970163407 |
124 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs970163407 CA117124374 |
124 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 129 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550910664 CA3240679 |
132 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1232774105 CA359529694 |
135 | E>K | No |
ClinGen gnomAD |
|
|
rs756312345 CA3240680 |
136 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780170467 CA3240681 |
137 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA359529717 rs1222850670 |
138 | I>V | No |
ClinGen gnomAD |
|
|
CA117124403 rs952544636 |
140 | G>D | No |
ClinGen Ensembl |
|
|
rs755410821 CA3240683 |
140 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562929446 CA117124407 |
146 | L>V | No |
ClinGen gnomAD |
|
|
CA3240690 rs779554328 |
152 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422315760 CA359529819 |
153 | A>E | No |
ClinGen gnomAD |
|
|
CA359529825 rs1259572019 |
154 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs140696000 CA3240691 |
154 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117124464 rs777294595 |
155 | E>G | No |
ClinGen Ensembl |
|
|
rs1404683655 CA359529836 |
156 | E>K | No |
ClinGen gnomAD |
|
|
rs562824970 CA117124478 |
157 | E>A | No |
ClinGen 1000Genomes |
|
|
CA117124480 rs530293828 |
158 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1323981634 CA359529853 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA3240697 rs770319249 |
159 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA117124485 rs908465800 |
159 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776154781 CA3240698 |
161 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341329866 CA359529885 |
162 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359517076 rs1452620761 |
167 | V>F | No |
ClinGen TOPMed |
|
|
CA117091710 rs377754044 |
168 | H>R | No |
ClinGen gnomAD |
|
|
CA3240713 rs754175235 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240714 rs200769709 |
171 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 175 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359517448 rs1380612210 |
176 | I>V | No |
ClinGen gnomAD |
|
|
CA3240717 rs571718846 |
177 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3240721 rs775119460 |
179 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359517633 rs1375401727 |
181 | G>S | No |
ClinGen gnomAD |
|
|
rs1446623699 CA359517641 |
181 | G>V | No |
ClinGen gnomAD |
|
|
rs1231498778 CA359517699 |
184 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs771823659 CA359519057 |
185 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771823659 CA3240747 |
185 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA359519094 rs1228391956 |
186 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359519223 rs1201808414 |
191 | D>H | No |
ClinGen gnomAD |
|
|
CA359519282 rs1421728818 |
192 | P>S | No |
ClinGen gnomAD |
|
|
CA3240748 rs773200440 |
195 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA117094293 rs780378364 |
195 | A>V | No |
ClinGen Ensembl |
|
|
CA359519370 rs1171474342 |
196 | R>C | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359519423 rs1403160507 |
198 | V>A | No |
ClinGen gnomAD |
|
|
CA3240750 rs771115412 |
204 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240752 rs145897756 |
205 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA117094329 rs923470266 |
207 | K>T | No |
ClinGen TOPMed |
|
|
rs763371456 CA3240755 |
213 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA359519741 rs1440704708 |
215 | D>G | No |
ClinGen TOPMed |
|
|
CA3240756 rs764406341 |
215 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3240757 rs752081386 |
216 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781688034 CA3240759 |
218 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA359519764 rs1406001763 |
219 | K>E | No |
ClinGen TOPMed |
|
|
rs753279677 CA3240760 |
219 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA117094356 rs112033041 COSM1288947 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200523361 CA359519808 |
223 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200523361 CA3240761 |
223 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3240763 rs747825120 |
225 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421661428 CA359519845 |
226 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA117094381 rs910808800 |
226 | P>H | No |
ClinGen TOPMed |
|
|
CA359519888 rs1248355142 |
229 | C>G | No |
ClinGen TOPMed |
|
|
CA359610882 rs1247329027 |
230 | H>R | No |
ClinGen TOPMed |
|
|
rs1375817340 CA359610899 |
232 | I>M | No |
ClinGen gnomAD |
|
|
CA359610906 rs1240580074 |
233 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746719843 CA3240787 |
234 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3240788 rs138513979 |
236 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117456315 rs972159670 |
238 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368440280 CA3240792 |
242 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240791 rs769971527 |
242 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749416336 CA3240793 |
244 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA359610992 rs768694503 |
246 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768694503 CA3240794 |
246 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174752513 CA359610999 |
247 | V>A | No |
ClinGen gnomAD |
|
|
CA3240795 rs774647806 |
247 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 248 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359611026 rs1329290744 |
251 | S>F | No |
ClinGen gnomAD |
|
|
rs1442736133 CA359611066 |
257 | D>N | No |
ClinGen gnomAD |
|
|
CA3240798 rs773681482 |
261 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761221964 CA3240799 |
263 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1213049493 CA359611114 |
264 | M>V | No |
ClinGen gnomAD |
|
|
rs752111530 CA3240801 |
267 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1196801900 CA359611166 |
271 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458596611 CA359611184 |
273 | I>V | No |
ClinGen gnomAD |
|
|
rs900833189 CA117456318 |
275 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 275 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468695596 CA359611215 |
277 | A>G | No |
ClinGen gnomAD |
|
|
CA117456319 rs186444056 |
278 | N>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1475720059 CA359611446 |
283 | T>R | No |
ClinGen gnomAD |
|
|
CA359611449 rs1178072686 |
284 | A>P | No |
ClinGen TOPMed |
|
|
CA359611450 rs1178072686 |
284 | A>S | No |
ClinGen TOPMed |
|
|
CA117459866 rs865830763 |
285 | M>V | No |
ClinGen Ensembl |
|
|
rs1245440173 CA359611472 |
287 | H>R | No |
ClinGen TOPMed |
|
|
CA359611555 COSM1067839 rs1443439522 |
299 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1398310542 CA359611603 |
305 | D>G | No |
ClinGen gnomAD |
|
|
rs1335519650 CA359611607 |
306 | A>T | No |
ClinGen TOPMed |
|
|
rs779842399 CA3240829 COSM186970 |
306 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359610478 rs1177768056 |
307 | T>N | No |
ClinGen gnomAD |
|
|
CA3240858 rs141732552 |
310 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3240859 rs190825810 |
313 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117469655 rs868313266 |
316 | P>S | No |
ClinGen gnomAD |
|
|
rs868313266 CA359610537 |
316 | P>T | No |
ClinGen gnomAD |
|
|
rs896087569 CA117469657 |
321 | S>G | No |
ClinGen gnomAD |
|
|
CA359610574 rs896087569 |
321 | S>R | No |
ClinGen gnomAD |
|
|
rs757536236 CA3240860 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA117469658 rs887683427 |
326 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA359610613 rs1412950114 |
327 | T>A | No |
ClinGen TOPMed |
|
|
CA3240861 rs781569527 |
327 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359610612 rs1412950114 |
327 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3240862 rs147202732 |
328 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240863 rs147202732 |
328 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203711846 CA359610619 |
328 | M>V | No |
ClinGen gnomAD |
|
|
rs1456373008 CA359610637 |
330 | G>V | No |
ClinGen gnomAD |
|
|
CA359610660 rs1250894222 |
334 | I>L | No |
ClinGen gnomAD |
|
|
rs1013091709 CA117469659 |
336 | T>A | No |
ClinGen TOPMed |
|
|
CA359610680 rs1329490899 |
337 | T>A | No |
ClinGen TOPMed |
|
|
rs771775540 CA3240866 |
337 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA359610687 rs1369081954 |
338 | C>S | No |
ClinGen TOPMed |
|
|
rs1217035354 CA359610685 |
338 | C>S | No |
ClinGen TOPMed |
|
|
rs1178675399 CA359610692 |
339 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3240870 rs776450132 |
340 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3240872 rs765105186 |
341 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359610713 rs1321219279 COSM1067842 |
342 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 344 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117469660 rs994796016 |
346 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758438802 CA3240874 |
347 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1389753541 CA359610746 |
347 | I>V | No |
ClinGen TOPMed |
|
|
CA3240875 rs764204659 |
348 | A>T | No |
ClinGen ExAC |
|
|
rs1175962837 CA359610759 |
349 | A>V | No |
ClinGen TOPMed |
|
|
rs757458510 CA3240877 |
350 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240878 rs781273633 |
351 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1561920145 COSM4141800 CA359610780 |
352 | Q>H | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs142842817 CA117469662 |
355 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3240879 rs142842817 |
355 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1162819984 CA359610802 |
356 | I>L | No |
ClinGen gnomAD |
|
|
rs1475014927 CA359610808 |
356 | I>M | No |
ClinGen TOPMed |
|
|
CA359610836 rs1246092337 |
360 | D>N | No |
ClinGen TOPMed |
|
|
CA3240880 rs756604099 |
361 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240882 rs780702254 |
361 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3240881 rs780702254 |
361 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA359610860 rs771687684 |
364 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117469663 rs772766551 |
364 | T>I | No |
ClinGen Ensembl |
|
|
rs771687684 CA3240883 |
364 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998225214 CA117480079 |
368 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359611798 rs1462741115 |
369 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1051102822 CA117480080 |
370 | H>R | No |
ClinGen Ensembl |
|
|
CA359611823 rs1202647667 |
371 | Y>C | No |
ClinGen TOPMed |
|
|
rs768579304 CA3240912 |
371 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323925153 CA359611856 |
374 | A>T | No |
ClinGen TOPMed |
|
|
CA359611866 rs1351903395 |
375 | H>Y | No |
ClinGen Ensembl |
|
|
rs1310572497 CA359611890 |
376 | D>E | No |
ClinGen gnomAD |
|
|
rs761947995 CA3240914 |
377 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs181883179 CA3240916 |
378 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760932644 CA3240917 |
378 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs891140467 CA117480081 |
380 | D>A | No |
ClinGen TOPMed |
|
|
CA3240918 rs766741592 |
380 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754191516 CA3240919 |
381 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359611944 rs1480124659 |
382 | S>F | No |
ClinGen gnomAD |
|
|
COSM347761 CA359611961 rs201460694 |
384 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201460694 CA3240922 |
384 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3240924 rs780516679 |
386 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA359611975 rs780516679 |
386 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs149992208 CA3240926 |
388 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3240927 rs779693545 |
389 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300160997 CA359612000 |
390 | G>R | No |
ClinGen gnomAD |
|
|
CA117480082 rs1020635417 |
390 | G>V | No |
ClinGen Ensembl |
|
|
rs749067997 CA3240928 |
391 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768402049 CA3240929 |
391 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359612018 rs1217295980 |
393 | L>F | No |
ClinGen gnomAD |
|
|
CA3240931 rs761705532 |
393 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs760844628 CA3240934 |
396 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766653864 CA3240935 |
396 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359612037 rs1461547768 |
397 | G>R | No |
ClinGen TOPMed |
|
|
CA359612059 rs1477099606 |
398 | G>D | No |
ClinGen TOPMed |
|
|
rs1280440062 CA359612044 |
398 | G>R | No |
ClinGen TOPMed |
|
|
CA359612070 rs575834539 |
400 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3240953 rs575834539 |
400 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359612111 rs1188054430 |
405 | W>* | No |
ClinGen gnomAD |
|
|
CA359612119 rs563080695 |
406 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3240954 rs773298005 |
406 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1164504284 CA359612130 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3240957 rs771205515 |
411 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA117480419 rs939890839 |
412 | K>* | No |
ClinGen Ensembl |
|
|
rs1215676076 CA359612160 |
412 | K>I | No |
ClinGen TOPMed |
|
|
rs775648345 CA3240961 |
413 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240960 COSM1270423 rs759624934 |
413 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3240959 rs759624934 |
413 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1186755 rs764570360 CA3240963 |
417 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752126505 CA3240964 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs143707270 CA117480420 |
418 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3240966 rs765923466 |
419 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA359612223 rs373713057 CA3240968 |
423 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3240967 rs753359545 |
423 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA359612226 TCGA novel rs1241175400 |
424 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1029194834 CA117480421 |
425 | P>A | No |
ClinGen TOPMed |
|
|
rs1394723525 CA359612301 COSM117752 |
432 | S>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1327816878 CA359612332 |
436 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771436366 CA3240991 |
438 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751409490 CA3240993 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA359612378 rs1223986645 |
444 | I>V | No |
ClinGen gnomAD |
|
|
CA359612384 rs1337248910 |
445 | Q>E | No |
ClinGen gnomAD |
|
|
rs757224681 CA3240994 |
446 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757224681 CA359612393 |
446 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745915096 CA3240996 |
448 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA359612403 rs781303226 |
448 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3240995 rs781303226 |
448 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387420854 CA359612415 |
450 | S>R | No |
ClinGen TOPMed |
|
|
CA3240997 rs769958146 |
451 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359612440 rs1179269697 |
453 | L>P | No |
ClinGen gnomAD |
|
|
CA359612446 rs1371816599 |
454 | V>A | No |
ClinGen gnomAD |
|
|
rs1461855854 CA359612452 |
455 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780135704 CA3240999 |
457 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1396772163 CA359612472 |
458 | R>C | No |
ClinGen gnomAD |
|
|
CA3241000 rs768879291 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3241001 rs774631003 |
460 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3241002 rs762195386 |
461 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3241003 rs772517168 |
462 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA359612502 rs1160757865 |
463 | R>G | No |
ClinGen TOPMed |
|
|
rs572793662 CA3241004 |
463 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758935578 CA3241005 |
464 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA117480629 rs1051639296 |
466 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA117480630 rs370221103 |
467 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA3241008 rs200178044 |
467 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3241009 rs763874112 |
471 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 471 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751354291 | 472 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117480631 rs1051154580 |
472 | A>G | No |
ClinGen TOPMed |
|
|
CA359612565 rs1051154580 |
472 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA359612581 rs1384235921 |
473 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA359612594 rs1385788909 |
475 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3241026 rs749065113 |
476 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581526168 CA359612601 |
476 | R>H | No |
ClinGen Ensembl |
|
|
rs756397555 CA117482478 |
478 | L>P | No |
ClinGen Ensembl |
|
|
CA117482479 rs770666576 |
483 | L>M | No |
ClinGen Ensembl |
|
|
rs375947968 CA117482480 |
484 | N>Y | No |
ClinGen Ensembl |
|
|
CA3241028 rs367661013 |
486 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359612677 rs1289414446 |
487 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 493 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3241030 rs750199934 |
497 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA359612749 rs1344702184 |
498 | Y>F | No |
ClinGen TOPMed |
|
|
CA359612759 rs112595440 |
499 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1025010080 CA117482484 |
501 | P>R | No |
ClinGen Ensembl |
|
|
CA117482485 rs370563617 |
502 | N>S | No |
ClinGen ESP |
|
|
CA117482486 rs904910585 |
504 | S>G | No |
ClinGen Ensembl |
|
|
CA359612796 rs1316449509 |
505 | Q>* | No |
ClinGen gnomAD |
|
|
CA117482629 rs888383774 |
508 | A>G | No |
ClinGen Ensembl |
|
|
CA3241053 rs755043955 |
512 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1373112833 CA359612856 |
512 | V>M | No |
ClinGen TOPMed |
|
|
rs1479156876 CA359612863 |
513 | V>F | No |
ClinGen gnomAD |
|
|
rs1198653063 CA359612883 |
516 | Q>* | No |
ClinGen gnomAD |
|
|
CA3241055 rs77730443 |
517 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3241056 rs77730443 |
517 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3241054 rs776851427 |
517 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241058 rs777885499 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419658634 CA359612964 |
528 | D>E | No |
ClinGen gnomAD |
|
|
CA117482631 rs1015707130 |
528 | D>H | No |
ClinGen Ensembl |
|
|
rs1300755333 CA359612970 |
529 | Y>C | No |
ClinGen TOPMed |
|
|
CA359612975 rs1430601790 |
530 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 530 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359612976 rs1430601790 |
530 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359613009 rs1486098186 |
533 | P>L | No |
ClinGen TOPMed |
|
|
CA3241079 rs750822480 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 537 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3241080 rs756649180 |
538 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780728685 CA3241081 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747671366 CA3241082 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241083 rs756805874 |
542 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777475551 CA3241084 |
543 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359613071 rs1318318832 |
543 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA359613084 rs990467989 |
545 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs990467989 CA117482813 |
545 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1581528945 CA359613083 |
545 | R>W | No |
ClinGen Ensembl |
|
|
CA359613105 rs1335061052 |
548 | R>S | No |
ClinGen gnomAD |
|
|
rs1243547509 CA359613128 |
552 | E>* | No |
ClinGen gnomAD |
|
|
rs1284403467 CA359613138 |
553 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1284403467 CA359613137 |
553 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776337222 CA359613150 |
554 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1329716561 CA359613160 |
556 | L>V | No |
ClinGen gnomAD |
|
|
CA117482814 rs914454199 COSM3947494 |
561 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA359613195 rs914454199 |
561 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200662850 CA3241091 |
562 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA359613281 rs1473600122 |
573 | R>C | No |
ClinGen gnomAD |
|
|
CA359613282 rs1197941595 |
573 | R>H | No |
ClinGen gnomAD |
|
|
CA117483006 rs916615406 |
576 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359613329 rs1296262432 |
581 | G>R | No |
ClinGen TOPMed |
|
|
rs1401727785 CA359613337 |
582 | G>A | No |
ClinGen TOPMed |
|
|
rs1480819693 CA359613333 |
582 | G>S | No |
ClinGen gnomAD |
|
|
CA3241111 rs774255129 |
584 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1178685766 CA359613355 |
585 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359613366 rs767825868 |
587 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241113 rs767825868 |
587 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241114 rs773608595 |
592 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359613439 rs1275585136 |
598 | D>N | No |
ClinGen gnomAD |
|
|
CA359613441 rs1275585136 |
598 | D>Y | No |
ClinGen gnomAD |
|
|
CA359613476 rs1220334819 |
602 | P>L | No |
ClinGen gnomAD |
|
|
rs1474479310 CA359613480 COSM3776683 |
603 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs113200066 CA117483009 |
603 | R>W | No |
ClinGen gnomAD |
|
|
CA3241118 rs755371468 |
605 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3241119 rs765801273 |
608 | R>C | Variant assessed as Somatic; 9.25e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1254777280 CA359613510 |
608 | R>H | No |
ClinGen TOPMed |
|
|
CA117483011 rs1028916375 |
611 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 612 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 613 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750981503 CA117483012 |
615 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA359613554 rs1581530436 |
615 | D>N | No |
ClinGen Ensembl |
|
|
rs201256518 CA117483013 |
616 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA117483014 rs779295595 |
616 | S>N | No |
ClinGen Ensembl |
|
|
CA117485682 rs61746860 |
627 | T>A | No |
ClinGen Ensembl |
|
|
rs371127187 CA3241136 |
628 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1247064196 CA359611658 |
632 | M>V | No |
ClinGen gnomAD |
|
|
CA3241138 rs756749969 |
634 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241137 rs753273451 |
634 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 634 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 634 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359611678 rs1209778766 |
635 | Q>* | No |
ClinGen gnomAD |
|
|
CA3241139 rs766959000 |
640 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 641 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749940806 CA3241140 |
642 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA359611736 rs755725947 |
643 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3241141 rs755725947 |
643 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779778577 CA3241142 |
644 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749015220 CA3241143 |
645 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359611807 rs1581551023 |
647 | P>A | No |
ClinGen Ensembl |
|
|
CA3241145 rs150309892 |
649 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1325583693 CA359611864 |
650 | K>Q | No |
ClinGen TOPMed |
|
|
rs778712197 CA3241146 |
652 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3241147 rs748152964 |
652 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9NW82
6 regional properties for Q9NW82
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 171 - 210 | IPR001680-1 |
| repeat | WD40 repeat | 217 - 257 | IPR001680-2 |
| repeat | WD40 repeat | 269 - 321 | IPR001680-3 |
| repeat | WD40 repeat | 321 - 360 | IPR001680-4 |
| repeat | WD40 repeat | 364 - 408 | IPR001680-5 |
| repeat | WD40 repeat | 460 - 499 | IPR001680-6 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of DNA double-strand break processing | Any process that modulates the frequency, rate or extent of DNA double-strand break processing. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LB0 | WDR70 | WD repeat-containing protein 70 | Bos taurus (Bovine) | PR |
| Q9W1J3 | CG5543 | Gastrulation defective protein 1 homolog | Drosophila melanogaster (Fruit fly) | PR |
| Q3TWF6 | Wdr70 | WD repeat-containing protein 70 | Mus musculus (Mouse) | PR |
| Q5EB92 | Wdr70 | WD repeat-containing protein 70 | Rattus norvegicus (Rat) | PR |
| Q0VA16 | wdr70 | WD repeat-containing protein 70 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERSGPSEVT | GSDASGPDPQ | LAVTMGFTGF | GKKARTFDLE | AMFEQTRRTA | VERSRKTLEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REKEEEMNRE | KELRRQNEDI | EPTSSRSNVV | RDCSKSSSRD | TSSSESEQSS | DSSDDELIGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLPPKMVGKP | VNFMEEDILG | PLPPPLNEEE | EEAEEEEEEE | EEEENPVHKI | PDSHEITLKH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTKTVSALGL | DPSGARLVTG | GYDYDVKFWD | FAGMDASFKA | FRSLQPCECH | QIKSLQYSNT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GDMILVVSGS | SQAKVIDRDG | FEVMECIKGD | QYIVDMANTK | GHTAMLHTGS | WHPKIKGEFM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TCSNDATVRT | WEVENPKKQK | SVFKPRTMQG | KKVIPTTCTY | SRDGNLIAAA | CQNGSIQIWD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RNLTVHPKFH | YKQAHDSGTD | TSCVTFSYDG | NVLASRGGDD | SLKLWDIRQF | NKPLFSASGL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PTMFPMTDCC | FSPDDKLIVT | GTSIQRGCGS | GKLVFFERRT | FQRVYEIDIT | DASVVRCLWH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PKLNQIMVGT | GNGLAKVYYD | PNKSQRGAKL | CVVKTQRKAK | QAETLTQDYI | ITPHALPMFR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EPRQRSTRKQ | LEKDRLDPLK | SHKPEPPVAG | PGRGGRVGTH | GGTLSSYIVK | NIALDKTDDS |
| 610 | 620 | 630 | 640 | 650 | |
| NPREAILRHA | KAAEDSPYWV | SPAYSKTQPK | TMFAQVESDD | EEAKNEPEWK | KRKI |