Q96FK6
Gene name |
WDR89 (C14orf150, MSTP050) |
Protein name |
WD repeat-containing protein 89 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:112840 |
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
1 structures for Q96FK6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96FK6-F1 | Predicted | AlphaFoldDB |
294 variants for Q96FK6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA390114158 rs1318497582 |
4 | I>F | No |
ClinGen gnomAD |
|
|
rs200143998 CA262476395 |
4 | I>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs750241514 CA7218703 |
4 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390114159 rs1318497582 |
4 | I>V | No |
ClinGen gnomAD |
|
|
CA7218702 rs764994750 |
5 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA390114146 rs1378370767 |
6 | E>* | No |
ClinGen gnomAD |
|
|
CA7218700 rs753811409 |
9 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764140916 CA7218699 |
13 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1450813879 CA390114092 |
14 | V>F | No |
ClinGen gnomAD |
|
|
rs760824874 CA7218698 |
16 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1247642766 CA390114042 |
21 | K>R | No |
ClinGen gnomAD |
|
|
CA7218696 rs767886112 |
23 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390114029 rs1187840836 |
23 | P>S | No |
ClinGen TOPMed |
|
|
rs1473513160 CA390114025 |
24 | T>P | No |
ClinGen TOPMed |
|
|
CA7218694 CA7218695 rs774900502 |
25 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
rs775556998 CA7218693 |
25 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA390114005 rs1291347600 |
27 | L>F | No |
ClinGen gnomAD |
|
|
CA390114007 rs1291347600 |
27 | L>V | No |
ClinGen gnomAD |
|
|
CA7218692 rs771389100 |
29 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA390113979 rs1158024560 |
31 | T>A | No |
ClinGen gnomAD |
|
|
CA7218690 rs749824511 COSM553514 |
36 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA390113949 rs749824511 |
36 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935362687 CA262476393 |
37 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7218687 rs746532791 |
38 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs924037812 CA262476392 |
40 | E>K | No |
ClinGen Ensembl |
|
|
rs758096970 CA7218685 |
41 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA262476391 rs369057434 |
42 | L>V | No |
ClinGen gnomAD |
|
|
CA262476389 rs946840690 |
47 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778748751 CA7218683 |
51 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145676848 CA7218682 |
52 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753521763 CA7218681 |
53 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs368471602 CA7218679 |
56 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764100265 CA7218680 |
56 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs901666396 CA262476386 |
57 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs11559174 CA262476385 |
58 | E>G | No |
ClinGen Ensembl |
|
|
rs759875833 CA7218676 |
62 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390113778 rs767678927 |
62 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767678927 CA7218677 |
62 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200681506 CA7218673 |
64 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262476382 rs990207864 |
64 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773382192 CA7218672 |
67 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1170062591 CA390113737 |
68 | G>V | No |
ClinGen TOPMed |
|
|
rs74383752 CA262476381 |
70 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1404269796 CA390113714 |
72 | L>H | No |
ClinGen TOPMed |
|
|
CA7218669 rs775021483 |
74 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1466124751 CA390113702 |
74 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75569502 CA262476379 |
77 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA262476378 rs962037015 |
78 | F>C | No |
ClinGen Ensembl |
|
|
CA390113638 rs1468744898 |
79 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1468744898 CA390113636 |
79 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745579304 CA7218667 |
80 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1433225460 CA390113618 |
81 | S>P | No |
ClinGen TOPMed |
|
|
rs778552613 CA7218666 |
82 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473655000 CA390113586 |
83 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7218664 rs756794878 |
84 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7218662 rs140159540 |
86 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390113534 rs940317302 |
87 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA262476375 rs940317302 |
87 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA262476374 rs918064794 |
88 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777385564 CA7218661 |
88 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA614738533 rs1322810511 |
89 | C>* | No |
ClinGen gnomAD |
|
|
rs992348595 CA262476373 |
89 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1595013008 CA390113454 |
93 | T>I | No |
ClinGen Ensembl |
|
|
rs1006352832 CA262476371 |
95 | K>E | No |
ClinGen gnomAD |
|
|
rs752646441 CA7218659 |
96 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262476369 rs968117645 |
98 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs944955056 CA262476368 |
100 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769328267 CA7218658 |
100 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7218657 rs755092203 |
101 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390113337 rs1262476077 |
103 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1009886361 CA262476367 |
103 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 104 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751630935 CA7218656 |
105 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 105 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201238690 CA7218654 |
112 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201238690 CA262476365 |
112 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389667413 CA390113185 |
113 | Y>C | No |
ClinGen TOPMed |
|
|
rs1386421939 CA390113173 |
114 | P>S | No |
ClinGen TOPMed |
|
|
CA262476362 rs867110082 |
115 | S>A | No |
ClinGen Ensembl |
|
|
CA7218650 rs762450286 |
116 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218651 rs762450286 |
116 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459180736 CA390113136 |
117 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA262476360 rs1049802936 |
120 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA262476361 rs889833191 |
120 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390113077 rs1416039138 |
121 | F>C | No |
ClinGen gnomAD |
|
|
rs759055176 CA7218647 |
124 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7218646 rs773812709 |
125 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390113021 rs1566788038 |
126 | N>T | No |
ClinGen Ensembl |
|
|
rs1210317344 CA390113013 |
127 | D>G | No |
ClinGen gnomAD |
|
|
rs1424360120 CA390113015 |
127 | D>H | No |
ClinGen Ensembl |
|
|
rs1023719305 CA262476358 |
128 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390112978 rs770642898 |
132 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218643 rs770642898 COSM553515 |
132 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1309876605 CA390112965 |
134 | T>I | No |
ClinGen gnomAD |
|
|
rs1244615193 CA390112960 |
135 | E>* | No |
ClinGen gnomAD |
|
|
CA390112958 rs1268201266 |
135 | E>G | No |
ClinGen TOPMed |
|
|
CA7218641 rs148702795 |
136 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7218639 rs748151073 |
139 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1383237011 CA390112933 |
139 | D>N | No |
ClinGen gnomAD |
|
|
CA390112926 rs1181133678 |
140 | D>Y | No |
ClinGen TOPMed |
|
|
CA7218637 COSM956881 rs568191399 |
141 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs182117567 CA7218636 |
144 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145041046 CA7218635 |
145 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390112880 rs1190406827 |
146 | W>* | No |
ClinGen gnomAD |
|
|
rs1390908091 CA390112882 |
146 | W>L | No |
ClinGen gnomAD |
|
|
rs1465350616 CA390112886 |
146 | W>R | No |
ClinGen gnomAD |
|
|
rs149880774 CA7218633 |
149 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765693183 CA7218632 |
150 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1289164369 CA390112855 |
150 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764619523 CA7218629 |
156 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7218630 rs754138741 |
156 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764619523 CA390112811 |
156 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs528213124 CA262476355 |
160 | D>V | No |
ClinGen 1000Genomes |
|
|
CA7218628 rs761125927 |
161 | S>L | No |
ClinGen ExAC |
|
|
CA7218626 rs770313000 |
162 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA262476354 rs749358111 |
163 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749358111 CA7218625 |
163 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390112763 rs1369938997 |
164 | A>V | No |
ClinGen gnomAD |
|
|
rs769427475 CA7218623 |
165 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1307738382 CA390112762 |
165 | Y>N | No |
ClinGen TOPMed |
|
|
CA7218622 rs747960741 |
166 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs781092628 CA7218621 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1595012563 CA390112734 |
169 | H>R | No |
ClinGen Ensembl |
|
|
CA7218620 rs768735877 |
170 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218619 rs746920533 |
172 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA390112696 rs1288479538 |
174 | T>I | No |
ClinGen TOPMed |
|
|
CA390112697 rs1288479538 |
174 | T>S | No |
ClinGen TOPMed |
|
|
rs780247394 CA7218618 |
177 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218617 rs758395247 |
177 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1434716533 CA390112663 |
179 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780342333 CA262476352 |
180 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376554740 CA7218616 |
183 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390112631 rs1204184387 |
184 | N>S | No |
ClinGen TOPMed |
|
|
rs572281010 CA7218615 |
185 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483213368 CA390112624 |
185 | M>R | No |
ClinGen gnomAD |
|
|
rs572281010 CA7218614 |
185 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276152718 CA390112619 |
186 | V>L | No |
ClinGen gnomAD |
|
|
CA390112607 rs1337954010 |
188 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7218612 rs764423387 |
189 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753135459 CA7218610 |
190 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7218611 rs370460278 |
190 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404562749 CA390112588 |
191 | S>F | No |
ClinGen gnomAD |
|
|
rs558790163 CA7218609 |
194 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762381683 CA7218608 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772710618 CA7218607 |
199 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218605 rs1555373501 |
200 | I>T | No |
ClinGen Ensembl |
|
|
CA390112528 rs1566787747 |
201 | N>D | No |
ClinGen Ensembl |
|
|
rs1566787741 CA390112523 |
201 | N>K | No |
ClinGen Ensembl |
|
|
rs1412265660 CA390112525 |
201 | N>S | No |
ClinGen TOPMed |
|
|
CA390112517 rs1555373499 |
202 | I>T | No |
ClinGen Ensembl |
|
|
CA390112506 rs1309201247 |
204 | N>D | No |
ClinGen TOPMed |
|
|
rs765012400 CA7218604 |
204 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761507652 CA7218603 |
205 | E>K | No |
ClinGen ExAC |
|
|
rs1426929235 CA390112492 |
206 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776617300 CA7218602 |
210 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1393811235 CA390112453 |
212 | T>A | No |
ClinGen TOPMed |
|
|
rs768567956 CA7218601 |
215 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA262476349 rs147383587 |
216 | I>S | No |
ClinGen ESP |
|
|
rs138997693 CA7218600 |
216 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374715164 CA7218599 |
220 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7218598 rs771981347 |
222 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390112370 rs1261584321 |
224 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1595012320 CA390112366 |
225 | S>A | No |
ClinGen Ensembl |
|
|
CA7218597 rs745968925 |
225 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1373979816 CA390112358 |
226 | G>V | No |
ClinGen gnomAD |
|
|
rs1595012310 CA390112356 |
227 | K>E | No |
ClinGen Ensembl |
|
|
rs1343999819 CA390112346 |
228 | G>D | No |
ClinGen TOPMed |
|
|
CA390112334 rs1205559013 |
229 | Y>* | No |
ClinGen TOPMed |
|
|
CA7218595 rs551757796 |
232 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7218593 rs531940599 |
232 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7218592 rs756454182 |
235 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA390112296 rs756454182 |
235 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753044102 CA262476348 |
236 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767911526 CA7218590 |
236 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390112287 rs767911526 |
236 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753044102 CA7218591 |
236 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218589 rs750610048 |
237 | H>D | No |
ClinGen ExAC |
|
|
CA390112274 rs1258332498 |
238 | D>G | No |
ClinGen TOPMed |
|
|
CA390112234 rs984476162 |
243 | W>* | No |
ClinGen gnomAD |
|
|
rs984476162 CA262476346 |
243 | W>C | No |
ClinGen gnomAD |
|
|
CA7218587 rs764816447 |
248 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156424807 CA390112199 |
248 | H>Y | No |
ClinGen gnomAD |
|
|
CA390112188 rs1189023699 |
250 | D>H | No |
ClinGen gnomAD |
|
|
rs1241855476 CA390112154 |
254 | P>L | No |
ClinGen gnomAD |
|
|
rs776410645 CA7218585 |
255 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218583 rs760393455 |
257 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775316974 CA7218582 |
257 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775316974 CA390112139 |
257 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202102295 CA262476344 |
263 | V>I | No |
ClinGen gnomAD |
|
|
rs1380429407 CA390112088 |
265 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770997597 CA7218578 |
268 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs140383002 CA7218577 |
269 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147523002 CA262476343 |
275 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA7218576 rs777981551 |
276 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200689505 CA262476342 |
276 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390111993 rs1566787566 |
278 | I>T | No |
ClinGen Ensembl |
|
|
rs143165130 CA7218575 |
279 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390111989 rs1277647565 |
279 | G>S | No |
ClinGen TOPMed |
|
|
CA7218574 rs748490107 |
280 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7218573 rs781569591 |
281 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752074989 CA7218571 |
282 | Y>H | No |
ClinGen ExAC |
|
| TCGA novel | 283 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212119686 CA390111940 |
286 | T>R | No |
ClinGen TOPMed |
|
|
rs778623681 CA7218570 |
287 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA390111930 rs1384109763 |
288 | T>A | No |
ClinGen gnomAD |
|
|
rs1450705425 CA390111922 |
289 | L>S | No |
ClinGen gnomAD |
|
|
rs1244193578 CA390111915 |
290 | H>P | No |
ClinGen gnomAD |
|
|
CA7218568 rs753332841 |
291 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763872055 CA7218567 |
292 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566787525 CA390111899 |
293 | G>R | No |
ClinGen Ensembl |
|
|
CA390111889 rs1290890640 |
294 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390111886 rs1224765834 |
295 | T>A | No |
ClinGen gnomAD |
|
|
CA390111873 rs1357333903 |
297 | K>Q | No |
ClinGen gnomAD |
|
|
rs148379805 CA7218565 |
298 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 299 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541626796 CA7218561 |
307 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1429793227 CA390111780 |
309 | G>E | No |
ClinGen gnomAD |
|
|
CA7218560 rs143334972 |
312 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7218559 rs774253682 |
312 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390111761 rs1422410741 |
313 | V>L | No |
ClinGen gnomAD |
|
|
CA390111748 rs1358038416 |
315 | S>G | No |
ClinGen gnomAD |
|
|
COSM553518 rs1263101419 CA390111743 |
315 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs950244789 CA262476341 |
318 | G>R | No |
ClinGen TOPMed |
|
|
CA7218557 rs367918227 |
319 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390111722 rs1422291845 |
319 | G>R | No |
ClinGen gnomAD |
|
|
CA390111705 rs141157376 |
321 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7218556 rs141157376 |
321 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1595011915 CA390111699 |
322 | A>V | No |
ClinGen Ensembl |
|
|
rs1201830923 CA390111698 |
323 | T>A | No |
ClinGen gnomAD |
|
|
CA262476339 rs889868982 |
323 | T>I | No |
ClinGen TOPMed |
|
|
CA7218555 rs769929699 COSM1740090 |
325 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7218554 rs188415224 |
325 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390111678 rs1390468504 |
326 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 327 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595011887 CA390111665 |
328 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 330 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7218553 rs200346449 |
331 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390111636 rs1430993797 |
332 | Q>R | No |
ClinGen TOPMed |
|
|
CA7218550 rs780712409 |
337 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758936068 CA7218549 |
339 | G>R | No |
ClinGen ExAC TOPMed |
|
| rs1444279086 | 340 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390111585 rs1345421570 |
340 | G>R | No |
ClinGen gnomAD |
|
|
CA7218547 rs777402670 |
343 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390111455 rs1566787402 |
350 | P>S | No |
ClinGen Ensembl |
|
|
CA390111424 rs1356749798 |
353 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 353 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390111421 rs1356749798 |
353 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs571324018 CA7218543 |
354 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218542 rs759385278 |
355 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390111360 rs1179036021 |
358 | T>A | No |
ClinGen gnomAD |
|
|
rs201297563 CA262476336 |
358 | T>R | No |
ClinGen 1000Genomes |
|
|
CA262476335 rs202032576 |
359 | K>R | No |
ClinGen 1000Genomes |
|
|
CA390111341 rs1566787378 |
360 | K>E | No |
ClinGen Ensembl |
|
| rs1566787367 | 360 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566787366 COSM168068 TCGA novel CA390111317 |
361 | E>D | Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated Ensembl |
|
CA390111329 rs1388874515 |
361 | E>K | No |
ClinGen gnomAD |
|
|
rs1479546173 CA390111312 |
362 | S>C | No |
ClinGen gnomAD |
|
|
rs1216745206 CA390111308 |
362 | S>N | No |
ClinGen TOPMed |
|
|
rs369959005 CA262476333 |
363 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7218539 rs369959005 |
363 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390111263 rs1454408190 |
365 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390111247 rs1193237153 |
366 | A>S | No |
ClinGen TOPMed |
|
|
rs762826018 CA7218538 |
366 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7218536 rs769884640 |
368 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7218537 rs769884640 |
368 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138166073 CA7218535 |
369 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390111203 rs1439462814 |
370 | H>L | No |
ClinGen gnomAD |
|
|
CA390111193 rs371589367 |
371 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262476332 rs545435704 |
372 | R>* | No |
ClinGen gnomAD |
|
|
CA7218533 rs368654685 |
372 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA390111184 rs1595011629 |
373 | V>A | No |
ClinGen Ensembl |
|
|
rs775949617 CA7218531 |
374 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576477902 CA7218530 |
374 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390111161 rs1264870883 |
376 | H>Q | No |
ClinGen gnomAD |
|
|
rs777219589 CA7218528 |
376 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7218529 rs746348481 |
376 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1297161822 CA390111156 |
377 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7218527 rs755640808 |
377 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs140633404 CA7218526 |
378 | N>S | No |
ClinGen ESP ExAC |
|
|
rs780897713 CA390111092 |
381 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1339050283 CA390111068 |
383 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390111056 rs1468598295 |
384 | R>K | No |
ClinGen gnomAD |
|
|
rs1595011561 CA390110993 |
388 | Q>W | No |
ClinGen Ensembl |
No associated diseases with Q96FK6
No regional properties for Q96FK6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96FK6 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53962 | YNL035C | Uncharacterized WD repeat-containing protein YNL035C | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3ZBK1 | WDR89 | WD repeat-containing protein 89 | Bos taurus (Bovine) | PR |
| Q9D0R9 | Wdr89 | WD repeat-containing protein 89 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEKIEEQFAN | LHIVKCSLGT | KEPTYLLGID | TSKTVQAGKE | NLVAVLCSNG | SIRIYDKERL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVLREFSGYP | GLLNGVRFAN | SCDSVYSACT | DGTVKCWDAR | VAREKPVQLF | KGYPSNIFIS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FDINCNDHII | CAGTEKVDDD | ALLVFWDARM | NSQNLSTTKD | SLGAYSETHS | DDVTQVRFHP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SNPNMVVSGS | SDGLVNVFDI | NIDNEEDALV | TTCNSISSVS | CIGWSGKGYK | QIYCMTHDEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FYWWDLNHLD | TDEPVTRLNI | QDVREVVNMK | EDALDYLIGG | LYHEKTDTLH | VIGGTNKGRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HLMNCSMSGL | THVTSLQGGH | AATVRSFCWN | VQDDSLLTGG | EDAQLLLWKP | GAIEKTFTKK |
| 370 | 380 | ||||
| ESMKIASSVH | QRVRVHSNDS | YKRRKKQ |