Q99459
Gene name |
CDC5L (KIAA0432, PCDC5RP) |
Protein name |
Cell division cycle 5-like protein |
Names |
Cdc5-like protein, Pombe cdc5-related protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:988 |
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
28 structures for Q99459
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DIM | NMR | - | A | 7-63 | PDB |
| 2DIN | NMR | - | A | 59-111 | PDB |
| 5MQF | EM | 590 A | L | 1-802 | PDB |
| 5XJC | EM | 360 A | L | 1-802 | PDB |
| 5YZG | EM | 410 A | L | 1-802 | PDB |
| 5Z56 | EM | 510 A | L | 1-802 | PDB |
| 5Z57 | EM | 650 A | L | 1-802 | PDB |
| 5Z58 | EM | 490 A | L | 1-802 | PDB |
| 6FF4 | EM | 1600 A | L | 1-802 | PDB |
| 6FF7 | EM | 450 A | L | 1-802 | PDB |
| 6ICZ | EM | 300 A | L | 1-802 | PDB |
| 6ID0 | EM | 290 A | L | 1-802 | PDB |
| 6ID1 | EM | 286 A | L | 1-802 | PDB |
| 6QDV | EM | 330 A | O | 1-802 | PDB |
| 6ZYM | EM | 340 A | L | 1-802 | PDB |
| 7A5P | EM | 500 A | L | 1-802 | PDB |
| 7AAV | EM | 420 A | L | 1-802 | PDB |
| 7ABG | EM | 780 A | L | 1-802 | PDB |
| 7ABH | EM | 450 A | L | 1-802 | PDB |
| 7ABI | EM | 800 A | L | 1-802 | PDB |
| 7DVQ | EM | 289 A | L | 1-802 | PDB |
| 7QTT | EM | 310 A | P | 1-802 | PDB |
| 7W59 | EM | 360 A | L | 1-802 | PDB |
| 7W5A | EM | 360 A | L | 1-802 | PDB |
| 7W5B | EM | 430 A | L | 1-802 | PDB |
| 8C6J | EM | 280 A | O | 1-802 | PDB |
| 8CH6 | EM | 590 A | P | 1-802 | PDB |
| AF-Q99459-F1 | Predicted | AlphaFoldDB |
450 variants for Q99459
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000416577 CA3835547 rs368161524 |
601 | K>R | Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA364304377 rs1341240964 |
2 | P>R | No |
ClinGen gnomAD |
|
|
rs866743535 CA138378877 |
3 | R>L | No |
ClinGen Ensembl |
|
|
CA364304664 rs1223134654 |
14 | T>A | No |
ClinGen gnomAD |
|
|
CA364304661 rs1223134654 |
14 | T>P | No |
ClinGen gnomAD |
|
|
CA364305702 rs781411018 |
40 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835151 rs748609661 |
49 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA364306324 rs1438434841 |
50 | W>C | No |
ClinGen gnomAD |
|
|
CA364306375 rs1277782245 |
54 | L>P | No |
ClinGen TOPMed |
|
|
CA364306392 rs1184136297 |
56 | P>A | No |
ClinGen gnomAD |
|
|
CA364306403 rs1472628285 |
57 | S>G | No |
ClinGen gnomAD |
|
|
CA364306407 rs1583105724 |
57 | S>N | No |
ClinGen Ensembl |
|
|
rs915033150 CA138382476 |
64 | S>F | No |
ClinGen Ensembl |
|
|
CA364306544 rs1167852802 |
66 | E>K | No |
ClinGen gnomAD |
|
|
CA3835169 rs756539319 |
67 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs868835519 CA138382517 |
69 | E>* | No |
ClinGen Ensembl |
|
|
CA3835170 rs778384309 |
71 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331709978 CA364306716 |
73 | H>D | No |
ClinGen gnomAD |
|
|
rs1583105760 CA364306780 |
75 | A>V | No |
ClinGen Ensembl |
|
|
rs1339444944 CA364306844 |
78 | M>V | No |
ClinGen gnomAD |
|
|
rs111999753 CA138382556 |
83 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779706463 CA3835173 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835174 rs746589740 |
88 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340754322 CA364307100 |
89 | I>T | No |
ClinGen gnomAD |
|
|
rs762877684 CA3835180 |
100 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1386160036 CA364307772 |
106 | K>E | No |
ClinGen gnomAD |
|
|
CA3835199 rs749136337 |
111 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA364307919 rs1322109064 |
112 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835200 rs770831573 |
112 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs538519804 CA3835202 |
116 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364308041 rs1327269903 |
116 | T>I | No |
ClinGen gnomAD |
|
|
rs142993737 CA3835203 |
117 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261054288 CA364308071 |
118 | D>G | No |
ClinGen gnomAD |
|
|
rs1266569848 CA364308141 |
121 | R>P | No |
ClinGen gnomAD |
|
|
rs140949908 CA138383174 |
126 | G>V | No |
ClinGen Ensembl |
|
|
rs754234475 CA3835207 |
134 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3835210 rs372141515 |
142 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364308620 rs1207696715 |
144 | M>V | No |
ClinGen gnomAD |
|
|
CA3835212 rs767062259 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3835213 rs767062259 |
147 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 168 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 174 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 179 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 179 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751558900 CA3835258 |
184 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755044991 CA3835259 |
188 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1582848 CA138388428 rs751926250 |
192 | R>* | Variant assessed as Somatic; impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1290539398 CA364311843 |
196 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835261 rs748230177 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA364311886 rs1222373145 |
200 | K>E | No |
ClinGen gnomAD |
|
|
CA138388441 rs200189568 |
202 | R>G | No |
ClinGen 1000Genomes |
|
|
rs370695015 CA138388446 |
203 | K>R | No |
ClinGen Ensembl |
|
|
CA364311971 rs1250641919 |
206 | R>G | No |
ClinGen TOPMed |
|
|
CA3835262 rs770031602 |
207 | G>E | No |
ClinGen ExAC |
|
|
CA138388453 rs781761929 |
213 | E>D | No |
ClinGen gnomAD |
|
|
CA3835264 rs749621430 |
213 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs549734666 CA3835266 |
217 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364312067 rs549734666 |
217 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244322990 CA364312092 |
219 | K>T | No |
ClinGen gnomAD |
|
| rs1446753250 | 220 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140797988 CA3835267 |
221 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364312147 rs1198715873 |
224 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144670030 CA3835268 |
226 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776097166 CA3835269 |
227 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776097166 CA3835270 |
227 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364312199 rs764902934 |
228 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835271 rs764902934 |
228 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337564982 CA364312323 |
233 | Q>E | No |
ClinGen TOPMed |
|
|
CA364312331 rs1561969930 RCV000678307 |
233 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 234 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189895969 CA364312351 |
234 | A>V | No |
ClinGen gnomAD |
|
|
CA3835273 rs762748890 |
236 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364312374 rs1363562258 |
236 | D>N | No |
ClinGen gnomAD |
|
|
rs368546991 CA3835275 COSM1079786 |
237 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1407500176 CA364312404 |
237 | A>V | No |
ClinGen gnomAD |
|
|
rs1351016031 CA364312453 |
240 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1470067585 CA364312475 |
241 | K>R | No |
ClinGen TOPMed |
|
|
CA3835278 rs752794499 |
242 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401968463 CA364312557 |
245 | Q>* | No |
ClinGen gnomAD |
|
|
CA364312584 rs1561969952 |
246 | D>A | No |
ClinGen Ensembl |
|
|
rs951406571 CA138388511 |
250 | E>D | No |
ClinGen TOPMed |
|
|
rs1222441974 CA364312650 |
250 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs778005707 CA3835280 |
251 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM232001 CA3835281 rs749488119 |
253 | S>F | Variant assessed as Somatic; 0.00028 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749488119 CA3835282 |
253 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835292 rs774260829 |
254 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767477315 CA3835293 |
255 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767525637 CA3835294 |
257 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3835295 rs534942880 |
259 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443758682 CA364313561 |
259 | D>V | No |
ClinGen gnomAD |
|
|
CA3835296 rs756163041 |
260 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835297 COSM1444838 rs764087079 |
264 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 269 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451600946 CA364313838 |
274 | D>N | No |
ClinGen gnomAD |
|
|
rs746190030 CA3835301 |
276 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452371295 CA364313938 |
279 | I>V | No |
ClinGen gnomAD |
|
|
CA138389513 rs1045453881 |
283 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs947625993 CA138389514 |
289 | T>I | No |
ClinGen Ensembl |
|
|
rs1231972458 CA364314371 |
300 | P>L | No |
ClinGen TOPMed |
|
|
rs1267589129 CA364314804 |
304 | D>E | No |
ClinGen gnomAD |
|
|
rs1196579392 CA364314794 |
304 | D>H | No |
ClinGen gnomAD |
|
|
rs753603218 CA138390926 |
305 | A>T | No |
ClinGen Ensembl |
|
|
CA3835331 RCV000918466 rs200087867 |
310 | V>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA138390950 rs892126229 |
311 | V>L | No |
ClinGen TOPMed |
|
|
CA3835332 rs149525934 |
312 | K>R | No |
ClinGen ESP ExAC |
|
|
rs373916286 CA3835334 |
316 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022052815 CA138390977 |
317 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3835335 rs750565964 |
319 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11552843 CA138390991 |
320 | A>T | No |
ClinGen Ensembl |
|
|
CA3835337 rs144083420 |
321 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138391002 rs941493029 |
321 | R>H | No |
ClinGen Ensembl |
|
|
rs755405339 CA3835339 |
322 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364314995 rs751834925 |
322 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835338 rs751834925 |
322 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364315021 rs1355708922 |
325 | E>A | No |
ClinGen gnomAD |
|
|
CA3835341 rs748222402 |
325 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1185280173 CA364315041 |
326 | E>G | No |
ClinGen TOPMed |
|
|
rs536765287 CA138391040 |
327 | S>Y | No |
ClinGen 1000Genomes |
|
|
rs756763383 CA3835342 |
328 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448545286 CA364315063 |
328 | G>S | No |
ClinGen TOPMed |
|
|
CA3835343 rs778564165 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364315097 rs1326718530 |
330 | T>K | No |
ClinGen TOPMed |
|
|
CA364315104 rs1201026543 |
331 | N>H | No |
ClinGen gnomAD |
|
|
CA138391052 rs9381320 |
332 | S>F | No |
ClinGen Ensembl |
|
|
rs745430137 CA3835344 |
333 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs745430137 CA364315126 |
333 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA138391067 rs200890159 |
336 | T>I | No |
ClinGen 1000Genomes |
|
|
CA364315267 rs1561971405 |
341 | Y>C | No |
ClinGen Ensembl |
|
|
rs1038853577 CA138391071 |
342 | N>D | No |
ClinGen Ensembl |
|
|
CA3835347 rs376004864 |
342 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768509617 CA3835348 |
343 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364315310 rs1295369906 |
344 | T>S | No |
ClinGen gnomAD |
|
|
rs1051362293 CA138391084 |
345 | N>K | No |
ClinGen Ensembl |
|
|
CA364315358 rs1391065796 |
346 | N>S | No |
ClinGen gnomAD |
|
|
CA138391087 rs972004000 |
347 | S>C | No |
ClinGen TOPMed |
|
|
rs891353395 CA138391089 |
347 | S>T | No |
ClinGen TOPMed |
|
|
rs1006568146 CA138391093 |
348 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1243557682 CA364315432 |
351 | R>I | No |
ClinGen gnomAD |
|
|
rs148664123 CA3835350 |
354 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA364315518 rs1561971448 |
355 | T>A | No |
ClinGen Ensembl |
|
|
CA364315675 rs1187760070 |
361 | R>I | No |
ClinGen TOPMed |
|
|
CA364315754 rs1239672861 |
363 | L>M | No |
ClinGen gnomAD |
|
|
CA364315760 rs1441916334 |
363 | L>P | No |
ClinGen gnomAD |
|
|
rs1182044774 CA364317555 |
365 | E>K | No |
ClinGen gnomAD |
|
|
rs1361269966 CA364317566 |
366 | A>V | No |
ClinGen gnomAD |
|
|
rs1279558309 CA364317594 |
370 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771059938 CA3835371 |
370 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs944435326 CA138396992 |
371 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3835372 rs774373300 |
372 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1313131188 CA364317631 |
376 | D>H | No |
ClinGen gnomAD |
|
|
CA138397010 rs906217681 |
383 | L>P | No |
ClinGen gnomAD |
|
|
rs1482032900 CA364317767 |
385 | T>I | No |
ClinGen TOPMed |
|
|
rs1215969616 CA364317776 |
386 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 387 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364317816 rs1426212625 |
388 | H>R | No |
ClinGen gnomAD |
|
|
rs765907562 CA3835380 |
390 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344477212 CA364317931 |
394 | G>D | No |
ClinGen gnomAD |
|
|
rs1156675653 CA364317926 |
394 | G>R | No |
ClinGen gnomAD |
|
|
CA364317945 rs754633653 |
395 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3835382 rs754633653 |
395 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780860959 CA3835383 |
397 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343064820 CA364317993 |
398 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1568339 rs1561974668 CA364318004 |
399 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM25654 rs370966869 CA3835384 |
399 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385473918 CA364318039 |
401 | V>D | No |
ClinGen TOPMed |
|
|
CA3835385 rs755922645 |
401 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA364318048 rs777633635 |
402 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835386 rs777633635 |
402 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835387 rs749257724 |
403 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3835388 rs770842657 |
403 | Q>P | No |
ClinGen ExAC |
|
|
CA3835389 rs183206100 |
404 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489873597 CA364318192 |
408 | V>F | No |
ClinGen gnomAD |
|
|
CA364318257 rs1247441346 |
412 | P>A | No |
ClinGen gnomAD |
|
|
CA364319286 COSM1697300 rs1340054148 |
416 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA138398696 rs954679788 |
416 | P>S | No |
ClinGen TOPMed |
|
| rs774713343 | 417 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364319313 rs1344291081 |
418 | N>D | No |
ClinGen TOPMed |
|
|
CA138398702 rs1035094207 |
419 | G>V | No |
ClinGen TOPMed |
|
|
CA138398712 rs994109638 |
420 | A>S | No |
ClinGen TOPMed |
|
|
rs1254684610 CA364319386 |
422 | G>R | No |
ClinGen TOPMed |
|
|
rs369226051 CA138398716 |
423 | L>Q | No |
ClinGen Ensembl |
|
|
CA3835414 rs777030695 |
425 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1415367763 CA364319464 |
425 | P>S | No |
ClinGen gnomAD |
|
|
rs747924598 CA364319477 |
426 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747924598 CA138398731 |
426 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3835416 rs762122155 |
427 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3835415 rs762122155 |
427 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364319488 rs1241772285 |
428 | G>R | No |
ClinGen TOPMed |
|
|
rs758985772 CA3835418 |
430 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333808089 CA364319538 |
430 | T>S | No |
ClinGen gnomAD |
|
|
CA364319542 rs758985772 |
430 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767022374 CA3835419 |
431 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs145364541 CA3835420 |
434 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3835421 rs760310212 |
437 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364319670 rs1272562134 |
438 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3835423 rs367907576 |
438 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151023284 CA3835424 |
439 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3835426 rs750389359 |
440 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1017845389 CA138398816 |
440 | G>D | No |
ClinGen TOPMed |
|
|
rs750389359 CA3835427 |
440 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs267601050 CA138398820 |
441 | R>G | No |
ClinGen Ensembl |
|
|
rs747133163 CA3835429 COSM1546754 |
444 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768966403 CA3835430 |
445 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364319789 rs1561975635 |
446 | D>G | No |
ClinGen Ensembl |
|
|
CA364319776 rs1250020449 |
446 | D>N | No |
ClinGen gnomAD |
|
|
rs1360963498 CA364319842 |
449 | N>D | No |
ClinGen TOPMed |
|
|
rs781298485 CA3835431 |
449 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781298485 CA364319847 |
449 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364319863 rs1173226572 |
450 | I>V | No |
ClinGen gnomAD |
|
|
CA364319878 rs1404328024 |
451 | N>D | No |
ClinGen gnomAD |
|
|
rs770063828 CA3835433 |
453 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1163670928 CA364319944 |
455 | G>V | No |
ClinGen TOPMed |
|
|
CA3835434 rs571743027 |
456 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364319950 rs571743027 |
456 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3835435 rs141102915 |
457 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364319971 rs1173111517 |
457 | A>V | No |
ClinGen TOPMed |
|
|
CA364319983 rs1298525575 |
458 | D>E | No |
ClinGen TOPMed |
|
|
rs1429483271 CA364319980 |
458 | D>G | No |
ClinGen TOPMed |
|
|
VAR_050181 CA3835436 rs11572006 |
459 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777700012 CA3835437 |
460 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs745967167 CA364320036 |
462 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3835439 rs745967167 |
462 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138398873 rs764935568 |
465 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835442 rs764935568 |
465 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364320146 rs1191785102 |
467 | Q>L | No |
ClinGen gnomAD |
|
|
CA364320149 rs1191785102 |
467 | Q>P | No |
ClinGen gnomAD |
|
|
CA364320173 rs1263313477 |
468 | M>V | No |
ClinGen gnomAD |
|
|
rs1357639172 CA364320468 |
469 | E>G | No |
ClinGen TOPMed |
|
|
rs964125850 COSM1238468 CA138399673 |
470 | R>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs748413122 CA3835462 |
473 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3835463 rs773109480 |
473 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 474 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766366590 CA3835465 |
477 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751554610 CA3835466 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755014998 CA364320741 |
480 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767493880 CA3835468 |
481 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA138399712 rs933400289 |
485 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138399714 rs75227257 |
490 | F>S | No |
ClinGen Ensembl |
|
|
CA3835470 rs756271993 |
493 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs936630738 CA138399737 |
498 | A>T | No |
ClinGen Ensembl |
|
|
rs749614395 CA3835472 |
499 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA138399761 rs1052320295 |
499 | E>K | No |
ClinGen Ensembl |
|
|
rs913252069 CA138399765 |
505 | R>C | No |
ClinGen Ensembl |
|
|
CA3835475 rs746366391 |
505 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA364321425 rs1389918616 |
507 | I>M | No |
ClinGen TOPMed |
|
|
CA364321418 rs1178484806 |
507 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835476 rs772692249 |
508 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA364321471 rs1442111654 |
509 | D>G | No |
ClinGen gnomAD |
|
|
CA364321489 rs775979730 |
510 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775979730 CA3835478 |
510 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775979730 CA3835477 |
510 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364321499 rs1367932403 |
511 | Y>N | No |
ClinGen gnomAD |
|
|
CA364321539 rs1187496918 |
512 | I>T | No |
ClinGen TOPMed |
|
|
rs1458517843 CA364321530 |
512 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3835479 rs769530734 |
513 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA364321594 COSM21707 rs1447155937 |
514 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA138399786 rs773017414 |
515 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773017414 CA3835480 |
515 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331801914 CA364321673 |
518 | V>L | No |
ClinGen gnomAD |
|
|
rs1198909844 CA364321683 |
519 | D>H | No |
ClinGen TOPMed |
|
|
CA364321704 rs766278837 COSM212611 |
520 | A>P | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3835482 rs766278837 |
520 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835483 rs376683934 |
521 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145762260 CA3835484 |
521 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175098497 CA364322728 |
524 | A>G | No |
ClinGen gnomAD |
|
|
CA3835512 rs764778238 |
526 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3835513 rs758812906 |
527 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs377229940 CA138400416 |
528 | A>S | No |
ClinGen Ensembl |
|
|
rs1287085358 CA364322809 |
528 | A>V | No |
ClinGen gnomAD |
|
|
CA364322830 rs1055398152 |
529 | E>D | No |
ClinGen Ensembl |
|
|
CA364322826 rs1479602426 |
529 | E>G | No |
ClinGen gnomAD |
|
|
rs371164669 CA3835514 |
530 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371164669 CA3835515 |
530 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550214338 CA3835517 |
530 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3835516 rs550214338 |
530 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550214338 CA138400429 |
530 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835518 rs374722205 |
536 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs770678225 CA3835519 |
537 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA364322953 rs1301039623 |
538 | H>R | No |
ClinGen gnomAD |
|
|
rs778663659 CA3835520 |
541 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA138400456 rs745604396 |
542 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835521 rs745604396 |
542 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487997879 CA364323118 |
548 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 549 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835522 rs771915962 |
550 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1379545900 CA364323228 |
552 | N>D | No |
ClinGen gnomAD |
|
|
CA364323233 rs1236268269 |
552 | N>S | No |
ClinGen gnomAD |
|
|
rs1406779852 CA364323283 |
556 | L>V | No |
ClinGen TOPMed |
|
|
rs1413952848 CA364323353 |
558 | P>R | No |
ClinGen TOPMed |
|
|
CA364323341 rs1561976848 |
558 | P>S | No |
ClinGen Ensembl |
|
|
rs989921225 CA138400597 |
561 | V>A | No |
ClinGen TOPMed |
|
|
rs1272062097 CA364323397 |
561 | V>I | No |
ClinGen Ensembl |
|
|
rs753363100 CA3835539 |
563 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753363100 CA138400607 |
563 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 569 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351330069 CA364323729 |
571 | S>G | No |
ClinGen gnomAD |
|
|
CA138400614 rs867829053 |
579 | M>R | No |
ClinGen Ensembl |
|
|
CA138400613 rs1015575416 |
579 | M>V | No |
ClinGen gnomAD |
|
|
CA364324071 rs1312148846 |
582 | M>I | No |
ClinGen gnomAD |
|
|
CA364324041 rs1448209045 |
582 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364324265 rs1354319509 |
590 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA364324259 rs1354319509 |
590 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs61753598 CA3835542 |
591 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3835543 rs758055277 |
594 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758055277 CA364324390 |
594 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758055277 CA3835544 |
594 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746845825 CA3835545 |
597 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA364324444 rs1237371802 |
597 | N>S | No |
ClinGen gnomAD |
|
|
rs758657978 CA138400631 |
600 | G>D | No |
ClinGen gnomAD |
|
|
rs768538161 CA3835546 |
600 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 600 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835548 rs748166637 |
603 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3835550 rs773228211 |
604 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773228211 CA138400648 |
604 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA364324608 rs1168932777 |
605 | F>V | No |
ClinGen gnomAD |
|
|
CA3835551 rs763221446 |
606 | G>V | No |
ClinGen ExAC |
|
|
CA3835552 rs766556577 |
608 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1466521785 CA364324682 |
608 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364324696 rs1331452940 |
609 | N>D | No |
ClinGen gnomAD |
|
|
CA3835553 rs145253281 |
610 | S>L | No |
ClinGen ESP ExAC |
|
|
CA3835556 rs753273895 |
612 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA364324776 rs1381560853 |
612 | H>Q | No |
ClinGen gnomAD |
|
|
rs768092543 CA3835555 |
612 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364324847 rs1318323851 |
617 | E>K | No |
ClinGen gnomAD |
|
|
CA364324880 rs777791487 |
618 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3835558 rs777791487 |
618 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866104924 CA138400663 |
620 | P>L | No |
ClinGen Ensembl |
|
|
CA364324923 rs1452697005 |
620 | P>S | No |
ClinGen TOPMed |
|
|
rs758049414 CA3835560 |
621 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs150583791 CA3835561 |
623 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364325771 rs1361736177 |
625 | S>T | No |
ClinGen TOPMed |
|
|
rs144082693 CA138400670 |
626 | K>E | No |
ClinGen 1000Genomes |
|
|
CA364325836 rs1157089269 |
629 | L>M | No |
ClinGen gnomAD |
|
|
CA3835563 rs754781297 |
631 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA3835583 rs752533648 |
633 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs377193602 CA138402073 |
634 | D>N | No |
ClinGen ESP |
|
|
CA3835584 rs138610020 |
637 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465903313 CA364326519 |
640 | M>T | No |
ClinGen TOPMed |
|
|
CA3835585 rs777605470 |
641 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3835587 rs770932664 |
642 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779214308 CA3835588 |
644 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs895647610 CA138402085 |
646 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA138402086 rs868049942 |
648 | S>N | No |
ClinGen Ensembl |
|
|
rs1047894709 CA138402088 |
654 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 660 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138402098 rs372359913 |
662 | E>D | No |
ClinGen ESP |
|
|
rs760987818 CA3835592 |
665 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA138402103 rs949951074 |
665 | Y>D | No |
ClinGen TOPMed |
|
|
rs769155730 CA3835593 |
666 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs887950191 CA138402111 |
670 | Y>H | No |
ClinGen TOPMed |
|
|
CA3835595 rs374330428 |
671 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765864584 CA3835596 RCV000782186 |
672 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs767195793 CA3835599 |
676 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA364327100 rs1438410834 |
676 | R>H | No |
ClinGen gnomAD |
|
|
rs767195793 CA364327096 |
676 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 678 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364327129 rs139979361 |
681 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139979361 CA3835600 |
681 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1202769891 CA364327133 |
682 | L>M | No |
ClinGen TOPMed |
|
|
CA364327145 rs1380966290 |
684 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1581658013 CA364327173 |
687 | D>G | No |
ClinGen Ensembl |
|
|
CA3835601 rs755886747 |
694 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1193419 rs1480469790 CA364327238 |
697 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1561982381 CA364329415 |
698 | I>M | No |
ClinGen Ensembl |
|
|
rs189633452 CA138408503 |
698 | I>V | No |
ClinGen 1000Genomes |
|
|
CA138408508 rs202195814 |
699 | N>D | No |
ClinGen 1000Genomes |
|
|
CA364329448 rs758564138 |
701 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780255438 CA364329449 |
701 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3835626 rs758564138 |
701 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780255438 CA3835627 |
701 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA364329491 rs1190308663 |
704 | T>M | No |
ClinGen gnomAD |
|
|
rs781384565 CA3835630 |
709 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 712 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835631 rs748582815 |
713 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1464514037 CA364329626 |
715 | K>R | No |
ClinGen gnomAD |
|
|
rs770243186 CA3835632 |
716 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs773732850 CA3835633 |
717 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364329727 CA3835634 rs11572048 |
720 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275910985 CA364329735 |
721 | L>F | No |
ClinGen gnomAD |
|
|
rs368936995 CA3835636 |
727 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364329838 rs1296778518 |
727 | R>H | No |
ClinGen gnomAD |
|
|
rs776260156 CA3835639 |
729 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364329916 TCGA novel rs1213113999 |
732 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1264637253 CA364329906 |
732 | M>V | No |
ClinGen TOPMed |
|
|
rs887017008 CA138408587 |
736 | N>D | No |
ClinGen Ensembl |
|
|
CA364329979 rs1261232391 |
736 | N>S | No |
ClinGen gnomAD |
|
|
CA3835642 rs750389234 |
737 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 739 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138408593 rs781104127 |
740 | D>E | No |
ClinGen Ensembl |
|
|
rs142471993 CA3835643 |
742 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364330116 rs1469096403 |
744 | Q>L | No |
ClinGen Ensembl |
|
|
rs923673813 CA138408605 |
745 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3835646 rs755120249 |
746 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364330207 rs1295835040 |
750 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM451568 CA3835647 rs202064406 |
750 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364330265 rs1581665055 |
754 | E>V | No |
ClinGen Ensembl |
|
|
CA364330279 rs1290315090 |
755 | L>F | No |
ClinGen gnomAD |
|
|
CA364330291 rs1316945256 |
756 | K>E | No |
ClinGen gnomAD |
|
|
CA364330302 rs1364503093 |
757 | K>Q | No |
ClinGen gnomAD |
|
|
CA3835649 rs756487018 |
758 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301103652 CA364330335 |
758 | H>Q | No |
ClinGen gnomAD |
|
|
CA364330327 rs756487018 |
758 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 761 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349248000 CA364330378 |
761 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3835650 rs778188821 |
762 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364330396 rs151321742 |
763 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA138408623 rs151321742 |
763 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 764 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216747021 CA364330433 COSM3394225 |
765 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1353133193 CA364330427 |
765 | R>W | No |
ClinGen gnomAD |
|
|
CA3835651 rs749791968 |
766 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA364330582 rs1176686578 |
769 | C>R | No |
ClinGen gnomAD |
|
|
CA3835667 rs759681849 |
769 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364330606 rs1561982739 |
771 | K>Q | No |
ClinGen Ensembl |
|
|
CA364330630 rs1178442339 |
772 | E>G | No |
ClinGen gnomAD |
|
|
CA138409069 rs550567686 |
774 | V>G | No |
ClinGen 1000Genomes |
|
|
CA3835669 rs752921987 |
776 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3835670 rs756396867 |
778 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364330795 rs1463401924 |
782 | K>R | No |
ClinGen gnomAD |
|
|
CA3835673 rs757677289 |
787 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 787 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364330910 rs1442951294 |
788 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3835675 rs746457538 |
793 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3835676 rs768213628 |
795 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA364331070 rs1294195804 |
797 | T>S | No |
ClinGen gnomAD |
|
|
rs1561982783 CA364331085 |
798 | L>S | No |
ClinGen Ensembl |
|
|
rs1283635945 CA364331102 |
799 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364331128 rs1296040893 |
801 | K>Q | No |
ClinGen TOPMed |
1 associated diseases with Q99459
Without disease ID
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| Prp19 complex | A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
| U2-type catalytic step 2 spliceosome | A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| 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. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| WD40-repeat domain binding | Binding to a WD40 repeat domain of a protein. The WD40 repeat is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Several of these repeats are combined to form a type of protein domain called the WD domain. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPRIMIKGGV | WRNTEDEILK | AAVMKYGKNQ | WSRIASLLHR | KSAKQCKARW | YEWLDPSIKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEWSREEEEK | LLHLAKLMPT | QWRTIAPIIG | RTAAQCLEHY | EFLLDKAAQR | DNEEETTDDP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKLKPGEIDP | NPETKPARPD | PIDMDEDELE | MLSEARARLA | NTQGKKAKRK | AREKQLEEAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RLAALQKRRE | LRAAGIEIQK | KRKRKRGVDY | NAEIPFEKKP | ALGFYDTSEE | NYQALDADFR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLRQQDLDGE | LRSEKEGRDR | KKDKQHLKRK | KESDLPSAIL | QTSGVSEFTK | KRSKLVLPAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QISDAELQEV | VKVGQASEIA | RQTAEESGIT | NSASSTLLSE | YNVTNNSVAL | RTPRTPASQD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RILQEAQNLM | ALTNVDTPLK | GGLNTPLHES | DFSGVTPQRQ | VVQTPNTVLS | TPFRTPSNGA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EGLTPRSGTT | PKPVINSTPG | RTPLRDKLNI | NPEDGMADYS | DPSYVKQMER | ESREHLRLGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LGLPAPKNDF | EIVLPENAEK | ELEEREIDDT | YIEDAADVDA | RKQAIRDAER | VKEMKRMHKA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VQKDLPRPSE | VNETILRPLN | VEPPLTDLQK | SEELIKKEMI | TMLHYDLLHH | PYEPSGNKKG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KTVGFGTNNS | EHITYLEHNP | YEKFSKEELK | KAQDVLVQEM | EVVKQGMSHG | ELSSEAYNQV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WEECYSQVLY | LPGQSRYTRA | NLASKKDRIE | SLEKRLEINR | GHMTTEAKRA | AKMEKKMKIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LGGYQSRAMG | LMKQLNDLWD | QIEQAHLELR | TFEELKKHED | SAIPRRLECL | KEDVQRQQER |
| 790 | 800 | ||||
| EKELQHRYAD | LLLEKETLKS | KF |