Q9NX65
PR
Gene name |
ZSCAN32 (ZNF434, HCCS5) |
Protein name |
Zinc finger and SCAN domain-containing protein 32 |
Names |
Human cervical cancer suppressor gene 5 protein, HCCS-5, Zinc finger protein 434 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54925 |
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 Q9NX65
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NX65-F1 | Predicted | AlphaFoldDB |
644 variants for Q9NX65
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1268287578 CA394483334 |
5 | V>M | No |
ClinGen gnomAD |
|
|
rs759868985 CA7862311 |
6 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329016703 CA394483291 |
7 | S>T | No |
ClinGen gnomAD |
|
|
rs576123377 CA276921070 |
8 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1385347907 CA394483234 |
9 | E>D | No |
ClinGen gnomAD |
|
|
rs766865113 CA7862309 |
9 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276921055 rs766865113 |
9 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763381605 CA7862308 |
11 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs901891397 CA394483211 |
11 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs901891397 CA276921040 |
11 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394483180 rs1567328725 |
12 | P>L | No |
ClinGen Ensembl |
|
|
rs1039220832 CA276921018 |
12 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394483169 rs1169137921 |
13 | S>Y | No |
ClinGen TOPMed |
|
|
CA394483156 rs1466342565 |
14 | S>A | No |
ClinGen gnomAD |
|
|
rs1007706818 CA276921003 |
14 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1567328650 CA394483129 |
15 | N>S | No |
ClinGen Ensembl |
|
|
rs1196302341 CA394483062 |
19 | T>I | No |
ClinGen gnomAD |
|
|
rs140432239 CA394483061 |
20 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140432239 CA7862307 |
20 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760946411 CA7862306 |
21 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295378108 CA394483040 |
22 | Q>* | No |
ClinGen TOPMed |
|
|
CA394483033 rs1567328590 |
22 | Q>L | No |
ClinGen Ensembl |
|
|
CA276920996 rs531516132 |
23 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA276920986 rs201123105 |
23 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs531516132 CA394483020 |
23 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA276920974 rs898612892 |
25 | A>P | No |
ClinGen gnomAD |
|
|
rs1038446261 CA276920964 |
26 | L>F | No |
ClinGen Ensembl |
|
|
CA394482966 rs1346108721 |
27 | Q>* | No |
ClinGen gnomAD |
|
|
rs1255837884 CA394482946 |
27 | Q>H | No |
ClinGen gnomAD |
|
|
CA394482961 rs1275244621 |
27 | Q>R | No |
ClinGen TOPMed |
|
|
rs1012462587 CA394482942 |
28 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1012462587 CA276920952 |
28 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA276920947 rs895310409 |
28 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7862305 rs748350796 |
29 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394482887 rs1363142419 |
30 | S>N | No |
ClinGen gnomAD |
|
|
CA394482862 rs757682885 |
32 | D>H | No |
ClinGen gnomAD |
|
|
CA276920927 rs757682885 |
32 | D>N | No |
ClinGen gnomAD |
|
|
CA276920914 rs1057001431 |
34 | E>K | No |
ClinGen gnomAD |
|
|
CA276920911 rs924165664 |
35 | A>S | No |
ClinGen Ensembl |
|
|
CA394482775 rs1431409137 |
36 | S>F | No |
ClinGen gnomAD |
|
|
rs1041377937 CA276920909 |
37 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1041377937 CA394482765 |
37 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768623278 CA394482762 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768623278 CA7862303 |
37 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276920904 rs945701908 |
38 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7862302 rs746789548 |
39 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276920901 rs989855613 |
39 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394482665 rs1231502914 |
42 | Q>H | No |
ClinGen TOPMed |
|
|
rs1256086157 CA394482626 |
45 | Y>C | No |
ClinGen gnomAD |
|
|
rs758417124 CA7862300 |
46 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344794722 CA394482601 |
46 | Q>L | No |
ClinGen gnomAD |
|
|
rs941185294 CA276920872 |
50 | G>A | No |
ClinGen TOPMed |
|
|
CA394482524 rs1340134685 |
51 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777388904 CA7862295 |
52 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767737560 CA7862297 |
52 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778312012 CA7862298 |
52 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567328102 CA394482483 |
53 | E>A | No |
ClinGen Ensembl |
|
|
CA394482415 rs1411380391 |
56 | S>G | No |
ClinGen gnomAD |
|
|
rs76097082 CA7862294 |
56 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761970280 CA7862292 |
59 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA276920832 rs1026738665 |
59 | W>S | No |
ClinGen TOPMed |
|
|
CA394482283 rs1415310844 |
61 | L>F | No |
ClinGen gnomAD |
|
|
rs976039717 CA276920827 |
62 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1472181011 CA394482256 |
62 | C>R | No |
ClinGen gnomAD |
|
|
rs976039717 CA394482252 |
62 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394482182 rs1186450438 |
65 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1253073681 CA394482135 |
66 | L>P | No |
ClinGen gnomAD |
|
|
rs1375355010 CA394482128 |
67 | R>G | No |
ClinGen TOPMed |
|
|
CA394482115 rs1176698433 |
67 | R>S | No |
ClinGen Ensembl |
|
|
CA276920817 rs562482481 |
68 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276920822 rs562482481 |
68 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394482048 rs1292298142 |
70 | T>I | No |
ClinGen gnomAD |
|
|
rs553651109 CA276920809 |
71 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA276920799 rs367962404 |
72 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765274928 CA7862288 |
72 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA276920794 rs754280423 |
73 | K>E | No |
ClinGen Ensembl |
|
|
CA276920781 rs962702942 |
76 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276920779 rs1017066104 |
78 | E>D | No |
ClinGen Ensembl |
|
|
CA276920757 rs893294026 |
81 | V>I | No |
ClinGen TOPMed |
|
|
CA394481748 rs1407775523 |
84 | Q>* | No |
ClinGen gnomAD |
|
|
CA394481742 rs1567327670 |
84 | Q>L | No |
ClinGen Ensembl |
|
|
CA394481695 rs1323842071 |
87 | T>N | No |
ClinGen gnomAD |
|
|
CA394481676 rs1163400668 |
88 | I>M | No |
ClinGen gnomAD |
|
|
CA394481681 rs1388007681 |
88 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276920739 rs759567094 |
88 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394481664 rs1473891962 CA394481662 |
89 | L>F | No |
ClinGen gnomAD |
|
|
CA394481658 rs1413362334 |
90 | P>S | No |
ClinGen gnomAD |
|
|
rs1217484831 CA394481636 |
91 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7862286 CA276920698 rs27241 |
92 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1181829308 CA394481626 |
92 | E>K | No |
ClinGen gnomAD |
|
|
CA394481568 rs1222653384 |
96 | W>G | No |
ClinGen gnomAD |
|
|
rs146754503 CA394481547 CA7862285 |
97 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146754503 CA7862284 |
97 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775442594 CA7862283 |
98 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287897853 CA394481498 |
99 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs771949158 CA7862282 |
100 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862281 rs745829028 |
101 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA394481440 rs1375785409 |
101 | H>L | No |
ClinGen TOPMed |
|
|
rs1375785409 CA394481449 |
101 | H>P | No |
ClinGen TOPMed |
|
|
CA394481406 rs902793914 |
104 | N>D | No |
ClinGen Ensembl |
|
|
rs902793914 CA276920670 |
104 | N>H | No |
ClinGen Ensembl |
|
|
rs778884561 CA7862280 |
104 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862278 rs748824112 |
105 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394481388 rs1231840765 |
105 | G>V | No |
ClinGen TOPMed |
|
|
CA7862275 rs752296430 |
106 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs552573948 CA7862276 |
106 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596236508 CA394481314 |
109 | V>M | No |
ClinGen Ensembl |
|
|
rs1389970645 CA394481298 |
110 | A>T | No |
ClinGen gnomAD |
|
|
rs1427747482 CA394481262 |
112 | V>A | No |
ClinGen gnomAD |
|
|
CA7862272 rs758758096 |
112 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191992817 CA394481251 |
113 | E>K | No |
ClinGen gnomAD |
|
|
CA276920648 rs538734661 |
115 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA276920633 rs976092148 |
116 | Q>E | No |
ClinGen TOPMed |
|
|
CA7862270 rs765762661 |
118 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1426458867 CA394481124 |
119 | P>R | No |
ClinGen TOPMed |
|
|
rs550369135 CA7862269 |
121 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394481067 rs1313707283 |
122 | Q>H | No |
ClinGen gnomAD |
|
|
rs1484580728 CA394480337 |
123 | V>F | No |
ClinGen gnomAD |
|
|
rs1279252952 CA394480328 |
124 | L>V | No |
ClinGen TOPMed |
|
|
rs572875233 CA276918522 |
125 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572875233 CA7862261 |
125 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862260 rs770904271 |
126 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA394480279 rs1318054909 |
127 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA276918518 rs890402774 |
128 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs980104055 CA276918513 |
129 | D>G | No |
ClinGen Ensembl |
|
|
CA394480228 rs1292898423 |
129 | D>N | No |
ClinGen gnomAD |
|
|
CA394480188 rs369512600 CA394480190 |
130 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7862259 rs749120545 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA394480170 rs749120545 |
131 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs934019772 CA276918507 |
132 | V>A | No |
ClinGen TOPMed |
|
|
CA276918508 rs775193743 |
132 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394479645 rs1310052146 |
133 | L>F | No |
ClinGen gnomAD |
|
|
rs1430716076 CA394479496 |
139 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394479502 rs1396210592 |
139 | P>S | No |
ClinGen TOPMed |
|
|
CA394479468 rs1168332945 |
141 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394479450 rs1425666818 |
142 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA276918504 rs769359748 |
143 | T>N | No |
ClinGen Ensembl |
|
|
CA276918499 rs769359748 |
143 | T>S | No |
ClinGen Ensembl |
|
|
CA394479357 rs1414377637 |
146 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394479330 rs1347550868 |
148 | R>S | No |
ClinGen TOPMed |
|
|
CA394479340 rs1596223787 |
148 | R>T | No |
ClinGen Ensembl |
|
|
CA394479306 rs1224353877 |
149 | S>F | No |
ClinGen TOPMed |
|
|
CA276918494 rs899839727 |
150 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394479245 rs1474087720 |
152 | K>* | No |
ClinGen gnomAD |
|
|
CA394479201 rs1274975259 |
154 | E>G | No |
ClinGen TOPMed |
|
|
CA7862258 rs777286694 |
154 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394479191 rs1205414290 |
155 | V>F | No |
ClinGen gnomAD |
|
|
rs992978998 CA276918487 |
156 | Q>R | No |
ClinGen Ensembl |
|
|
rs557099657 CA7862257 |
160 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394479089 rs1482489052 |
160 | P>T | No |
ClinGen gnomAD |
|
|
rs537181491 CA276918472 |
162 | F>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA276918476 rs745385272 |
162 | F>L | No |
ClinGen gnomAD |
|
|
CA7862256 rs747838818 |
162 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs199951446 CA276918467 |
164 | G>* | No |
ClinGen Ensembl |
|
|
rs1040072517 CA276918466 |
165 | S>* | No |
ClinGen TOPMed |
|
|
CA394478965 rs1290661449 |
166 | Q>R | No |
ClinGen gnomAD |
|
|
CA394478944 rs1410834336 |
167 | S>T | No |
ClinGen gnomAD |
|
|
rs1288480093 CA394478912 |
169 | H>N | No |
ClinGen Ensembl |
|
|
rs1296691704 CA394478880 |
170 | Q>* | No |
ClinGen gnomAD |
|
|
CA394478827 rs1567321276 |
172 | P>R | No |
ClinGen Ensembl |
|
|
rs1350584153 CA394478764 |
174 | E>D | No |
ClinGen gnomAD |
|
|
CA394478724 rs1370895033 |
176 | S>L | No |
ClinGen gnomAD |
|
|
rs953962512 CA394477472 |
180 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs953962512 CA276914555 |
180 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs370450805 CA7862246 |
182 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201240534 CA394477362 |
183 | Q>R | No |
ClinGen gnomAD |
|
|
rs117689911 CA394477336 |
184 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117689911 CA7862245 |
184 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394477310 rs1438737157 |
185 | P>T | No |
ClinGen gnomAD |
|
|
rs1596463017 CA394477230 |
187 | N>T | No |
ClinGen Ensembl |
|
|
rs1321103213 CA394477135 |
190 | Q>R | No |
ClinGen gnomAD |
|
|
CA276914538 rs914075264 |
191 | N>K | No |
ClinGen TOPMed |
|
|
rs759608545 CA7862244 |
194 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394476912 rs745972005 |
195 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394476897 rs1172622485 |
196 | D>N | No |
ClinGen Ensembl |
|
|
CA394476839 rs1466388649 |
197 | Q>* | No |
ClinGen gnomAD |
|
|
CA394476842 rs1466388649 |
197 | Q>E | No |
ClinGen gnomAD |
|
|
rs1256285854 CA394476815 |
198 | E>Q | No |
ClinGen gnomAD |
|
|
rs1171420521 CA394476632 |
202 | V>M | No |
ClinGen gnomAD |
|
|
rs879155783 CA276914533 |
204 | W>R | No |
ClinGen Ensembl |
|
|
rs936968359 CA276914529 |
205 | T>I | No |
ClinGen gnomAD |
|
|
CA394476481 rs1390325823 |
206 | A>V | No |
ClinGen gnomAD |
|
|
CA394476471 rs1189763673 |
207 | G>R | No |
ClinGen gnomAD |
|
|
rs1202499159 CA394476384 |
209 | Q>H | No |
ClinGen gnomAD |
|
|
rs1260270866 CA394476386 |
209 | Q>R | No |
ClinGen gnomAD |
|
|
CA7862230 rs749856037 |
211 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1354571629 CA394476193 |
213 | M>T | No |
ClinGen gnomAD |
|
|
CA7862229 rs778406948 |
214 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394476186 rs778406948 |
214 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756325936 CA7862228 COSM73436 |
214 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394476183 rs778406948 |
214 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752826162 CA7862227 |
215 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA394476081 rs1228954658 |
218 | A>D | No |
ClinGen TOPMed |
|
|
CA394476047 rs1214226466 |
219 | V>E | No |
ClinGen TOPMed |
|
|
CA276914391 rs906152803 |
219 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs906152803 CA394476050 |
219 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392304344 CA394476023 |
220 | S>F | No |
ClinGen gnomAD |
|
|
CA7862224 rs751691627 |
221 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA276914390 rs931517966 |
222 | C>Y | No |
ClinGen TOPMed |
|
|
CA394475919 rs1417788183 |
223 | Q>H | No |
ClinGen gnomAD |
|
|
rs373934197 CA7862223 |
224 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs910840789 CA276914385 CA394475782 |
227 | M>I | No |
ClinGen gnomAD |
|
|
rs1473532486 CA394475808 |
227 | M>V | No |
ClinGen TOPMed |
|
|
rs1436151132 CA394475733 |
229 | P>L | No |
ClinGen gnomAD |
|
|
rs773192543 CA7862221 |
230 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA276914350 rs776134054 |
232 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7862218 rs776134054 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394475644 rs1333990750 |
233 | Q>K | No |
ClinGen gnomAD |
|
|
CA394475635 rs768005417 |
233 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs768005417 CA7862217 |
233 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs774979414 CA7862215 |
234 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201633341 CA394475605 |
234 | R>T | No |
ClinGen gnomAD |
|
|
rs1278555271 CA394475586 |
235 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394475530 rs1439652170 |
237 | Y>* | No |
ClinGen gnomAD |
|
|
rs760714615 CA7862213 |
237 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA276914337 rs912297896 |
237 | Y>C | No |
ClinGen TOPMed |
|
|
CA276914329 rs922282834 |
238 | R>G | No |
ClinGen TOPMed |
|
|
CA394475494 rs1284793183 |
239 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771380607 CA7862212 |
239 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1284793183 CA394475487 |
239 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1448906101 CA394475477 |
240 | A>T | No |
ClinGen TOPMed |
|
|
rs1394337706 CA394475458 |
241 | T>I | No |
ClinGen gnomAD |
|
|
rs370503715 CA7862210 |
243 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862211 rs147765270 |
243 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144247014 CA7862209 |
244 | K>N | No |
ClinGen ESP ExAC |
|
|
CA276914292 rs748615093 |
245 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862208 rs748615093 |
245 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394475353 rs1468747077 |
246 | S>G | No |
ClinGen gnomAD |
|
|
rs781362855 CA7862207 |
246 | S>N | No |
ClinGen ExAC |
|
|
rs1248677492 CA394475320 |
247 | H>D | No |
ClinGen gnomAD |
|
|
rs376157839 CA7862206 |
248 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751856859 CA7862205 |
249 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748780416 CA276914278 |
250 | L>V | No |
ClinGen gnomAD |
|
|
CA394472989 rs1433463018 |
252 | T>I | No |
ClinGen TOPMed |
|
|
rs778787710 CA7862185 |
253 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1271401 rs1270156040 CA394472978 |
253 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7862184 rs778787710 |
253 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA394472954 rs1434395702 |
254 | V>A | No |
ClinGen gnomAD |
|
|
rs753615386 CA7862182 |
254 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA394472921 rs1170491687 |
256 | W>S | No |
ClinGen gnomAD |
|
|
rs144099672 CA7862180 |
257 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144099672 CA394472912 |
257 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394472907 rs1296694361 |
257 | G>V | No |
ClinGen TOPMed |
|
|
CA7862178 rs767329640 |
258 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862177 rs759087681 |
260 | E>G | No |
ClinGen ExAC |
|
|
rs200897578 CA394472763 |
263 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862175 rs200897578 |
263 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394472748 rs776987633 |
264 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7862173 rs776987633 |
264 | L>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_052826 CA7862171 rs17136369 |
266 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376240662 CA7862170 |
267 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772317903 CA7862169 |
268 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs139132006 CA7862168 |
269 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150775538 CA7862167 |
269 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276911335 rs868171798 |
272 | Q>* | No |
ClinGen Ensembl |
|
|
rs200697723 CA7862165 |
274 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7862166 rs200697723 |
274 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7862163 rs755843796 |
278 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394472467 rs1267181707 |
278 | Q>K | No |
ClinGen TOPMed |
|
|
CA394472445 rs1168218040 |
279 | T>N | No |
ClinGen gnomAD |
|
|
rs752579890 CA7862162 |
279 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394472427 rs751056134 |
280 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754700661 CA7862160 |
280 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7862159 rs751056134 |
280 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862158 rs371700011 |
281 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1474117791 CA394472399 |
282 | Q>* | No |
ClinGen gnomAD |
|
|
rs1025885853 CA276911276 |
284 | S>N | No |
ClinGen TOPMed |
|
|
rs776988955 CA7862156 |
284 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394472354 rs1480020758 |
284 | S>R | No |
ClinGen gnomAD |
|
|
rs764709398 CA7862155 |
286 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775860155 CA7862153 |
288 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394472282 rs1274383031 |
290 | M>L | No |
ClinGen gnomAD |
|
|
rs772229742 CA7862152 |
291 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309382615 CA394472204 |
294 | L>V | No |
ClinGen gnomAD |
|
|
COSM3927545 COSM3927544 rs774626902 CA7862150 |
295 | W>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7862149 rs770905887 |
296 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1296459173 CA394472169 |
296 | E>K | No |
ClinGen gnomAD |
|
|
rs777542438 CA7862147 |
297 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394472120 rs1308742985 |
298 | G>S | No |
ClinGen TOPMed |
|
|
rs756109929 CA7862146 |
300 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs368707453 CA7862144 |
301 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862145 rs566315752 |
301 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766191136 CA7862141 |
304 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1254150221 CA394471962 |
305 | Q>* | No |
ClinGen gnomAD |
|
|
rs757824099 COSM1708681 CA7862140 |
306 | C>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7862139 COSM273514 rs200152894 |
307 | R>C | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7862138 rs764465833 |
307 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240215110 CA394471861 |
310 | F>L | No |
ClinGen gnomAD |
|
|
rs1316518330 CA394471850 |
311 | K>R | No |
ClinGen gnomAD |
|
|
rs142839747 CA7862137 |
312 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236563564 CA394471825 |
313 | L>V | No |
ClinGen gnomAD |
|
|
CA7862135 rs767868920 |
314 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7862133 rs375317994 |
318 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862132 rs199811024 |
318 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773366307 CA7862130 |
320 | V>L | No |
ClinGen ExAC |
|
|
rs1327600162 CA394471693 |
321 | R>G | No |
ClinGen TOPMed |
|
|
CA7862127 rs182826637 |
324 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7862126 rs141990066 |
324 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394021974 CA394471608 |
325 | V>M | No |
ClinGen gnomAD |
|
|
CA7862125 rs768557639 |
326 | P>A | No |
ClinGen ExAC |
|
|
rs746848827 CA7862124 |
327 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746848827 CA394471570 |
327 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs191971415 CA7862123 |
328 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200719883 CA7862122 |
329 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276911056 rs987414686 |
329 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200719883 CA7862121 |
329 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862120 rs571904652 |
330 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394471435 rs1302695260 |
332 | Y>* | No |
ClinGen gnomAD |
|
|
rs27230 CA7862119 |
332 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7862118 VAR_024215 rs27230 |
332 | Y>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394471403 rs1567303789 |
334 | E>K | No |
ClinGen Ensembl |
|
|
CA394471320 rs1596445054 |
336 | N>K | No |
ClinGen Ensembl |
|
|
CA394471303 rs1328091456 |
337 | A>G | No |
ClinGen gnomAD |
|
|
rs1296237179 CA394471296 |
338 | L>V | No |
ClinGen gnomAD |
|
|
COSM165826 CA394471263 rs1382564026 |
339 | S>* | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394471264 rs1382564026 |
339 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394471240 rs1314327721 |
341 | S>C | No |
ClinGen gnomAD |
|
|
CA394471236 rs1314327721 |
341 | S>F | No |
ClinGen gnomAD |
|
|
CA394471223 rs1422253125 |
342 | W>* | No |
ClinGen gnomAD |
|
|
CA394471215 rs1374478453 |
342 | W>* | No |
ClinGen gnomAD |
|
|
rs759866587 CA7862115 |
342 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7862114 rs751954478 |
343 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394471211 rs751954478 |
343 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763251937 CA7862113 |
344 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7862112 rs763251937 |
344 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7862109 rs143371112 |
346 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769913100 CA7862110 |
346 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190534153 CA394471143 |
347 | P>A | No |
ClinGen gnomAD |
|
|
rs1026194326 CA276911026 |
347 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776686474 CA7862108 |
348 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394471082 rs1208761313 |
350 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs537182061 CA276911006 |
350 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746759030 CA7862106 |
351 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149224788 CA7862105 |
353 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394471008 rs149193108 |
354 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149193108 CA7862104 |
354 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394470980 rs1415202858 |
356 | Q>* | No |
ClinGen gnomAD |
|
|
CA394470967 rs1416314315 |
356 | Q>H | No |
ClinGen TOPMed |
|
|
CA394470886 rs778493572 |
360 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7862102 rs778493572 |
360 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7862099 rs555035539 |
361 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758180277 CA7862100 |
361 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751864642 CA7862097 |
364 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766772123 CA7862096 |
367 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278366061 CA394470709 |
367 | N>T | No |
ClinGen TOPMed |
|
|
CA7862094 rs750643806 |
368 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7862093 rs765427247 |
369 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1439629055 CA394470619 |
371 | G>R | No |
ClinGen gnomAD |
|
|
CA7862091 rs761951250 |
372 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1337321660 CA394470561 |
373 | P>S | No |
ClinGen gnomAD |
|
|
CA7862089 rs535151998 |
374 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7862085 rs774027719 |
376 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7862084 CA394470504 rs774027719 |
376 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770604701 CA7862083 |
379 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1327528318 CA394470379 |
380 | T>A | No |
ClinGen gnomAD |
|
|
CA394470225 rs1596444361 |
385 | D>G | No |
ClinGen Ensembl |
|
|
CA7862082 rs748750918 |
385 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs748750918 CA394470231 |
385 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1273231655 CA394470207 |
386 | R>K | No |
ClinGen gnomAD |
|
|
CA394470201 rs1398680253 |
387 | D>N | No |
ClinGen gnomAD |
|
|
rs201225902 CA7862081 |
390 | D>Y | No |
ClinGen 1000Genomes ExAC |
|
|
CA394469950 rs1175201304 |
397 | E>* | No |
ClinGen TOPMed |
|
|
rs1471247975 CA394469887 |
400 | K>T | No |
ClinGen gnomAD |
|
|
rs145877569 CA7862078 |
401 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862077 rs200596918 |
402 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs750793331 CA7862076 |
403 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs912475805 CA276910835 |
404 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1270973047 CA394469806 |
405 | V>L | No |
ClinGen gnomAD |
|
|
CA7862074 rs757574366 |
406 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs141913816 CA276910822 |
410 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1236229195 CA394469708 |
411 | L>P | No |
ClinGen gnomAD |
|
|
CA394469170 rs76762916 |
412 | G>D | No |
ClinGen gnomAD |
|
|
CA276910168 rs76762916 |
412 | G>V | No |
ClinGen gnomAD |
|
|
CA394469140 rs1238654815 |
413 | F>L | No |
ClinGen gnomAD |
|
|
rs1280638140 CA394469120 |
414 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1209498489 CA394469094 |
414 | E>D | No |
ClinGen gnomAD |
|
|
CA7862050 rs746193477 |
416 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7862047 rs754103850 |
418 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7862048 rs201407846 |
418 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764464814 CA7862046 |
419 | I>F | No |
ClinGen ExAC |
|
|
CA394468947 rs1269903233 |
419 | I>T | No |
ClinGen gnomAD |
|
|
rs756191562 CA394468930 |
420 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862045 rs756191562 |
420 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7862044 rs752755140 |
420 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394468922 rs1286669630 |
421 | K>E | No |
ClinGen TOPMed |
|
|
CA394468882 rs1596441191 |
424 | L>I | No |
ClinGen Ensembl |
|
|
rs1028181571 CA276910138 |
427 | D>H | No |
ClinGen TOPMed |
|
|
CA394468742 rs1313775981 |
428 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1596441090 CA394468700 |
430 | E>G | No |
ClinGen Ensembl |
|
|
rs561308355 CA7862043 |
432 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394468585 rs561308355 |
432 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276910121 rs757450287 |
435 | N>K | No |
ClinGen Ensembl |
|
|
CA7862039 rs185266177 |
437 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751289714 CA7862040 |
437 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751289714 CA394468339 |
437 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751289714 CA7862041 |
437 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185266177 CA7862038 |
437 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276910065 rs1009450401 |
438 | L>S | No |
ClinGen TOPMed |
|
|
rs182222831 CA7862037 |
442 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187524451 CA394468162 |
444 | G>V | No |
ClinGen TOPMed |
|
|
CA394468135 rs769475949 |
445 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769475949 CA7862036 |
445 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276910055 rs769475949 |
445 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394467993 rs1257741733 |
448 | H>L | No |
ClinGen gnomAD |
|
|
CA394468001 rs1257741733 |
448 | H>P | No |
ClinGen gnomAD |
|
|
CA394467987 rs1186860712 |
448 | H>Q | No |
ClinGen gnomAD |
|
|
CA276910043 rs751620210 |
449 | S>C | No |
ClinGen Ensembl |
|
|
CA7862032 rs746362275 |
450 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs772571775 CA7862033 |
450 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394467891 rs1258000038 |
451 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7862031 rs779628178 |
452 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs573126996 CA394467758 |
454 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs573126996 CA394467759 |
454 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1306121225 CA394467766 |
454 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs573126996 CA276910011 |
454 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394467735 rs1294134509 |
455 | L>W | No |
ClinGen gnomAD |
|
|
CA394467684 rs1311927054 |
456 | E>D | No |
ClinGen TOPMed |
|
|
CA394467725 rs1596440585 |
456 | E>K | No |
ClinGen Ensembl |
|
|
rs771405482 CA7862030 |
456 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs749716598 CA7862029 |
457 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150936647 CA7862028 |
458 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394467567 rs1443062634 |
460 | T>A | No |
ClinGen gnomAD |
|
|
rs369309100 CA7862025 |
462 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142654684 CA7862024 |
463 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7862023 rs751487801 |
465 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA276909933 rs751487801 |
465 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA7862021 rs762707154 |
466 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1144623 CA276909918 |
466 | R>K | No |
ClinGen Ensembl |
|
|
CA7862020 rs750249506 |
469 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394465754 rs1421618898 |
469 | P>S | No |
ClinGen gnomAD |
|
|
CA7862018 rs148491043 |
470 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394465747 CA7862019 rs764892915 |
470 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394465730 rs1470098907 |
471 | E>A | No |
ClinGen gnomAD |
|
|
CA7862016 rs376041345 |
471 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276909880 rs372567704 |
472 | S>N | No |
ClinGen ESP TOPMed |
|
|
CA7862015 rs760286195 |
472 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394465681 rs1244525927 |
473 | E>K | No |
ClinGen gnomAD |
|
|
rs774973738 CA7862014 |
475 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771599986 CA7862013 |
475 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs368897835 CA7862012 |
477 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596440024 CA394465534 |
479 | Q>* | No |
ClinGen Ensembl |
|
|
CA394465451 rs1211079536 |
482 | M>I | No |
ClinGen TOPMed |
|
|
CA7862009 rs748315974 |
482 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs375510033 CA7862007 |
484 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394465354 rs1356912194 |
486 | S>R | No |
ClinGen gnomAD |
|
|
rs754991232 CA7862006 |
488 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394465245 rs1418000126 |
489 | A>T | No |
ClinGen gnomAD |
|
|
rs1176727327 CA394465225 |
489 | A>V | No |
ClinGen TOPMed |
|
|
CA7862005 rs751678700 |
496 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA394464943 rs1382053536 |
498 | L>R | No |
ClinGen TOPMed |
|
|
rs1455914017 CA394464937 |
499 | C>R | No |
ClinGen gnomAD |
|
|
rs758354568 CA7862003 |
504 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA276909835 rs1055334940 |
505 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394464628 rs757139441 |
509 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1353276450 CA394464618 |
509 | S>C | No |
ClinGen gnomAD |
|
|
CA394464623 rs1353276450 |
509 | S>F | No |
ClinGen gnomAD |
|
|
rs757139441 CA7862000 |
509 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1236623377 CA394464555 |
511 | H>Q | No |
ClinGen gnomAD |
|
|
CA7861998 rs372222404 |
513 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276909793 rs573871067 |
514 | A>S | No |
ClinGen Ensembl |
|
|
CA276909787 rs906671086 |
514 | A>V | No |
ClinGen gnomAD |
|
|
rs775165912 CA7861996 |
516 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1289078313 CA394464331 |
519 | K>N | No |
ClinGen gnomAD |
|
|
rs908246928 CA276909769 |
520 | V>A | No |
ClinGen TOPMed |
|
|
CA7861994 rs763563204 |
521 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773838763 CA7861993 |
523 | C>R | No |
ClinGen ExAC |
|
|
CA394464228 rs1567300005 |
524 | P>S | No |
ClinGen Ensembl |
|
|
rs1440416561 CA394464170 |
526 | C>R | No |
ClinGen TOPMed |
|
|
rs912916648 CA276909719 |
527 | G>W | No |
ClinGen Ensembl |
|
|
rs565596568 CA7861989 |
531 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1431787540 CA394464006 |
532 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7861988 rs768955289 |
532 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA620713603 rs1187475747 |
535 | Y>* | No |
ClinGen gnomAD |
|
|
rs780118444 CA7861986 |
536 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760560937 CA7861985 |
536 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220084180 CA394463914 |
537 | V>I | No |
ClinGen TOPMed |
|
|
rs150535613 CA7861984 |
538 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7861982 rs375567911 |
538 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7861983 rs150535613 |
538 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394463858 rs189562749 |
539 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394463865 rs1231056641 |
539 | H>R | No |
ClinGen gnomAD |
|
|
rs986411878 CA394463807 |
541 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs986411878 CA276909662 |
541 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7861978 rs200094282 |
543 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394463722 rs759175542 |
544 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7861977 rs759175542 |
544 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314384001 CA394463738 |
544 | T>P | No |
ClinGen gnomAD |
|
|
CA7861976 rs759175542 |
544 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA7861975 rs773570405 |
545 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7861973 rs139612347 |
546 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7861972 rs139612347 |
546 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7861971 rs768807543 |
548 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA394463662 rs1171501077 |
548 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394463589 rs1190425272 |
551 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394463557 rs1255493284 |
552 | S>I | No |
ClinGen gnomAD |
|
|
rs1198810264 CA394463510 |
553 | E>D | No |
ClinGen gnomAD |
|
|
rs368130061 CA7861966 |
555 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7861967 rs567883117 |
555 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142045528 CA7861965 |
556 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7861962 rs375098698 |
561 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752388614 CA7861961 |
561 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861960 rs781041516 |
562 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA394463315 rs1567299353 |
562 | S>Y | No |
ClinGen Ensembl |
|
|
CA394463241 rs1392646010 COSM1163116 |
566 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs751114206 CA7861958 |
567 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465426534 CA394463168 |
568 | L>R | No |
ClinGen gnomAD |
|
|
CA276909599 rs533552056 |
568 | L>V | No |
ClinGen 1000Genomes |
|
|
rs765614078 CA7861957 |
569 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762393364 CA7861956 |
571 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA7861955 rs370408261 |
571 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394463053 rs1567299186 |
573 | G>V | No |
ClinGen Ensembl |
|
|
CA394463048 rs1439684465 |
574 | E>K | No |
ClinGen gnomAD |
|
|
CA394463047 rs1439684465 |
574 | E>Q | No |
ClinGen gnomAD |
|
|
rs761082757 CA7861952 |
575 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861951 rs775663695 |
575 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7861950 rs772317955 |
575 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861949 rs759491964 |
576 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394462988 rs759491964 |
576 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774506691 CA7861948 |
577 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276909543 rs1002864479 |
577 | Y>H | No |
ClinGen TOPMed |
|
|
CA394462932 rs770709649 CA7861947 |
578 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA394462888 rs1240520381 |
580 | G>R | No |
ClinGen gnomAD |
|
|
rs1335900974 CA394462861 |
581 | Q>* | No |
ClinGen gnomAD |
|
|
CA394462857 rs1310610359 |
581 | Q>P | No |
ClinGen gnomAD |
|
|
CA7861945 rs777919278 |
582 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7861944 rs771885789 |
582 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs186626428 CA394462796 |
584 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs186626428 CA7861943 |
584 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7861942 rs780953755 |
590 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1162012633 CA394462673 |
591 | S>R | No |
ClinGen TOPMed |
|
|
CA394462638 rs1161721912 |
593 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394462644 rs1295960784 |
593 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754700724 CA7861941 |
595 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750975133 CA7861940 |
596 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA276909489 rs907167602 |
596 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM307638 CA276909491 rs866067144 |
596 | Q>R | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1052811250 CA276909487 |
598 | T>I | No |
ClinGen Ensembl |
|
|
rs1221996715 CA394462524 |
599 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757912239 CA7861938 |
599 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754356009 CA7861937 |
600 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA394462501 rs1596437623 |
601 | G>E | No |
ClinGen Ensembl |
|
|
COSM3957548 CA7861935 rs200899230 COSM3957549 |
601 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767674452 CA7861933 |
602 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985631577 CA276909471 |
604 | P>A | No |
ClinGen TOPMed |
|
|
CA7861932 rs759812156 CA394462436 |
605 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861931 rs774505622 |
606 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA394462429 rs774505622 |
606 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs771034917 CA7861930 |
606 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7861929 rs762995642 |
607 | C>R | No |
ClinGen ExAC gnomAD |
|
|
COSM307640 rs111430390 COSM3690988 CA7861928 |
607 | C>Y | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA394462379 rs1487009334 |
608 | I>M | No |
ClinGen TOPMed |
|
|
CA7861927 rs769883989 |
608 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1321816050 CA394462390 |
608 | I>V | No |
ClinGen gnomAD |
|
|
rs548928830 CA7861926 |
609 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1475087785 CA394462347 |
610 | C>R | No |
ClinGen TOPMed |
|
|
rs773786864 CA7861924 |
610 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746667631 CA7861923 |
612 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394462277 rs1185798397 |
614 | F>L | No |
ClinGen TOPMed |
|
|
rs961312850 CA276909431 |
614 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA276909425 rs908796191 |
616 | N>S | No |
ClinGen TOPMed |
|
|
rs757902557 CA7861921 |
618 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs757902557 CA7861922 |
618 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7861919 rs201818632 |
621 | S>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA394462153 rs756632308 |
621 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861918 rs756632308 |
621 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861917 rs752995423 |
622 | A>T | No |
ClinGen ExAC |
|
|
rs147085419 CA7861914 |
624 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371988668 CA7861916 |
624 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201511674 CA7861913 |
625 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143167196 CA7861912 |
625 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394462090 rs1220372139 |
626 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394462079 rs1344926933 |
627 | H>D | No |
ClinGen gnomAD |
|
|
rs773449283 CA7861911 |
627 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7861909 rs761844957 |
628 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398221806 CA394462032 |
630 | E>* | No |
ClinGen gnomAD |
|
|
rs565309921 CA7861908 |
631 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350903601 CA394462005 |
632 | P>A | No |
ClinGen TOPMed |
|
|
CA7861906 rs768483391 |
633 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs775173234 CA394461964 |
635 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs775173234 CA7861904 |
635 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs771650045 CA7861903 |
636 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486360065 CA394461933 |
637 | V>A | No |
ClinGen gnomAD |
|
|
rs745330302 CA7861902 |
637 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861901 rs778405398 |
638 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277181947 CA394461893 |
640 | K>E | No |
ClinGen gnomAD |
|
|
CA394461891 rs1596436122 |
640 | K>I | No |
ClinGen Ensembl |
|
|
CA7861899 rs748644461 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394461843 rs1277788549 |
643 | N>S | No |
ClinGen gnomAD |
|
|
rs755343650 CA7861897 |
644 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357608524 CA394461826 |
644 | N>S | No |
ClinGen gnomAD |
|
|
CA394461768 CA7861892 rs149063397 |
648 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750462968 CA7861893 |
648 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs746251034 CA276909306 |
649 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394461744 rs1475959812 |
650 | A>D | No |
ClinGen gnomAD |
|
|
rs1475959812 CA394461742 |
650 | A>G | No |
ClinGen gnomAD |
|
|
CA7861891 rs762040975 |
651 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7861890 rs200526799 |
652 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3361753 rs763978623 COSM3361754 CA7861889 |
652 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7861888 rs760474370 |
653 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1257747446 CA394461653 |
656 | T>I | No |
ClinGen gnomAD |
|
|
rs1257747446 CA394461649 |
656 | T>S | No |
ClinGen gnomAD |
|
|
rs771695392 CA7861885 |
659 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7861884 rs745517954 |
662 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs372402522 CA7861882 |
662 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377154858 CA394461572 |
663 | C>Y | No |
ClinGen gnomAD |
|
|
CA394461556 rs1330598725 |
664 | S>F | No |
ClinGen TOPMed |
|
|
CA7861881 rs144884509 |
665 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447352810 CA394461544 |
665 | H>Q | No |
ClinGen gnomAD |
|
|
CA394461545 rs144884509 |
665 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596435270 CA394461519 |
667 | E>G | No |
ClinGen Ensembl |
|
|
CA7861880 rs200652075 |
667 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394461506 rs1328982156 |
668 | R>K | No |
ClinGen gnomAD |
|
|
rs1462863314 CA394461480 |
670 | F>L | No |
ClinGen gnomAD |
|
|
rs1346484974 CA394461450 |
672 | K>E | No |
ClinGen TOPMed |
|
|
rs751783262 CA276909249 |
672 | K>R | No |
ClinGen Ensembl |
|
|
rs1403079420 CA394461433 |
673 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394461404 rs1349228949 |
675 | A>S | No |
ClinGen gnomAD |
|
|
CA394461396 rs1178715978 |
675 | A>V | No |
ClinGen gnomAD |
|
|
rs1165388090 CA394461385 |
676 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs758898713 CA7861876 |
676 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200555060 CA7861875 |
677 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7861874 rs190367841 |
678 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7861873 rs201245225 |
678 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276909199 rs898562743 |
680 | Q>E | No |
ClinGen TOPMed |
|
|
rs1596434859 CA394461327 |
680 | Q>H | No |
ClinGen Ensembl |
|
|
CA7861872 rs753891576 |
681 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394461318 rs1320159341 |
681 | T>I | No |
ClinGen gnomAD |
|
|
CA7861871 rs150304666 |
682 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394461289 rs1240990881 |
684 | M>L | No |
ClinGen gnomAD |
|
|
CA394461291 rs1240990881 |
684 | M>V | No |
ClinGen gnomAD |
|
|
rs556687010 CA7861869 |
688 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556687010 CA7861870 |
688 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394461239 rs1307041733 |
689 | S>L | No |
ClinGen gnomAD |
|
|
rs1368105585 CA394461228 |
691 | Q>K | No |
ClinGen gnomAD |
|
|
rs1292740488 CA394461215 |
692 | E>K | No |
ClinGen gnomAD |
|
|
rs370449882 CA276909188 |
693 | G>E | No |
ClinGen Ensembl |
|
|
CA7861867 rs767205659 |
694 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA394461164 rs1380197652 |
695 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773965623 CA7861865 |
695 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157455912 CA394461158 |
696 | A>S | No |
ClinGen gnomAD |
|
|
CA7861863 rs542853125 COSM970424 |
696 | A>V | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1190987784 CA394461131 |
697 | L>S | No |
ClinGen gnomAD |
|
|
CA7861860 rs769141460 |
698 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA394461113 rs1397844961 |
698 | L>S | No |
ClinGen TOPMed |
No associated diseases with Q9NX65
8 regional properties for Q9NX65
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SCAN domain | 33 - 142 | IPR003309 |
| domain | Zinc finger C2H2-type | 521 - 548 | IPR013087-1 |
| domain | Zinc finger C2H2-type | 549 - 576 | IPR013087-2 |
| domain | Zinc finger C2H2-type | 577 - 604 | IPR013087-3 |
| domain | Zinc finger C2H2-type | 605 - 632 | IPR013087-4 |
| domain | Zinc finger C2H2-type | 633 - 660 | IPR013087-5 |
| domain | Zinc finger C2H2-type | 661 - 683 | IPR013087-6 |
| domain | Myb/SANT-like DNA-binding domain 4 | 255 - 338 | IPR044822 |
1 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
| Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
| A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
| A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
| A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
| Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
| Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
| Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
| Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
| P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
| Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
| P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
| Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
| Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
| P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
| P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
| O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
| P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
| Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
| Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
| Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
| Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
| O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
| Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
| Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
| Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
| Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
| Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
| Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
| Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
| Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
| Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
| Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
| Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
| Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
| Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
| Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
| Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
| Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
| P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
| Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
| Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
| P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
| P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
| Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
| Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
| P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
| Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
| Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
| P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
| Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
| O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
| Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
| P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
| Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
| Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
| A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
| P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
| O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
| P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
| Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
| O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
| O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
| Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
| A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
| Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
| Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
| Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
| Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
| Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
| P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
| Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
| Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
| Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
| Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
| P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
| Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
| P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
| Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
| Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
| Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
| Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
| Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
| P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
| Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
| O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
| Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
| Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
| P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
| Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
| Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
| Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
| Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
| Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
| Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
| Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
| Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
| A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
| Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
| P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
| P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
| Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
| Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
| Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
| Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
| Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
| Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
| Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
| P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
| Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
| O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
| B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
| O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
| Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
| Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
| Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
| Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
| Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
| P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
| Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
| Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
| Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
| Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
| Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
| Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
| B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
| B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
| Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
| O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
| P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
| P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
| A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
| Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
| A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
| Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMAAVKSTEA | HPSSNKDPTQ | GQKSALQGNS | PDSEASRQRF | RQFCYQEVTG | PHEAFSKLWE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LCCQWLRPKT | HSKEEILELL | VLEQFLTILP | EEIQTWVREQ | HPENGEEAVA | LVEDVQRAPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQVLDSEKDL | KVLMKEMAPL | GATRESLRSQ | WKQEVQPEEP | TFKGSQSSHQ | RPGEQSEAWL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| APQAPRNLPQ | NTGLHDQETG | AVVWTAGSQG | PAMRDNRAVS | LCQQEWMCPG | PAQRALYRGA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TQRKDSHVSL | ATGVPWGYEE | TKTLLAILSS | SQFYGKLQTC | QQNSQIYRAM | AEGLWEQGFL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RTPEQCRTKF | KSLQLSYRKV | RRGRVPEPCI | FYEEMNALSG | SWASAPPMAS | DAVPGQEGSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IEAGELNHQN | GEPTEVEDGT | VDGADRDEKD | FRNPGQEVRK | LDLPVLFPNR | LGFEFKNEIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KENLKWDDSE | EVEINKALQR | KSRGVYWHSE | LQKGLESEPT | SRRQCRNSPG | ESEEKTPSQE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KMSHQSFCAR | DKACTHILCG | KNCSQSVHSP | HKPALKLEKV | SQCPECGKTF | SRSSYLVRHQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RIHTGEKPHK | CSECGKGFSE | RSNLTAHLRT | HTGERPYQCG | QCGKSFNQSS | SLIVHQRTHT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GEKPYQCIVC | GKRFNNSSQF | SAHRRIHTGE | SPYKCAVCGK | IFNNSSHFSA | HRKTHTGEKP |
| 670 | 680 | 690 | |||
| YRCSHCERGF | TKNSALTRHQ | TVHMKAVLSS | QEGRDAL |