Q9NVM9
PR
Gene name |
INTS13 |
Protein name |
Integrator complex subunit 13 |
Names |
Cell cycle regulator Mat89Bb homolog, Germ cell tumor 1, Protein asunder homolog, Sarcoma antigen NY-SAR-95 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55726 |
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
5 structures for Q9NVM9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6SN1 | X-ray | 254 A | A | 1-706 | PDB |
| 8RBX | EM | 410 A | m | 1-706 | PDB |
| 8RBZ | EM | 370 A | m | 1-706 | PDB |
| 8RC4 | EM | 310 A | m | 1-706 | PDB |
| AF-Q9NVM9-F1 | Predicted | AlphaFoldDB |
400 variants for Q9NVM9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1238249580 | 5 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 9 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310472262 CA384182975 |
10 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384182938 rs1365889563 |
14 | V>M | No |
ClinGen gnomAD |
|
|
CA384182885 rs1437788920 |
19 | Y>C | No |
ClinGen gnomAD |
|
|
CA384182886 rs1274845343 |
19 | Y>H | No |
ClinGen gnomAD |
|
|
CA234323910 rs965398083 |
22 | E>A | No |
ClinGen TOPMed |
|
|
CA384182861 rs965398083 |
22 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374140540 CA6490757 |
27 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs899501029 CA234323895 |
29 | E>* | No |
ClinGen Ensembl |
|
|
rs1022170371 CA234323894 |
29 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384182798 rs1400184681 |
31 | D>G | No |
ClinGen gnomAD |
|
|
rs1017978389 CA234323874 |
34 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1364434466 CA384182768 |
35 | K>N | No |
ClinGen TOPMed |
|
|
rs749616147 CA6490755 |
37 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA384182748 rs1191760330 |
38 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369719364 CA6490752 |
48 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384182649 rs1310870621 |
53 | T>S | No |
ClinGen gnomAD |
|
|
rs1220322663 CA384182620 |
57 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA384182583 rs1369135352 |
62 | Y>* | No |
ClinGen TOPMed |
|
|
rs1409724800 CA384182576 |
63 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752474396 CA6490746 |
65 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs758297958 CA6490747 |
65 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA234323799 CA6490742 rs778120076 |
66 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2306852 VAR_050864 CA6490743 |
66 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6490744 rs760803643 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1052726359 CA234323774 |
67 | Y>C | No |
ClinGen TOPMed |
|
|
rs1052726359 CA384182553 |
67 | Y>F | No |
ClinGen TOPMed |
|
|
rs1358379337 CA384182545 |
68 | D>G | No |
ClinGen gnomAD |
|
|
rs267603432 CA234323764 |
71 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA384182517 rs1421445974 |
72 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384182478 rs1468786072 |
76 | V>A | No |
ClinGen TOPMed |
|
|
CA6490729 rs777855863 |
76 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6490728 rs758353094 |
77 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752594318 CA6490727 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384182454 rs1381235253 |
80 | V>M | No |
ClinGen TOPMed |
|
|
CA384182436 COSM938320 rs1172573466 |
82 | D>G | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1441962582 CA384182440 |
82 | D>N | No |
ClinGen TOPMed |
|
|
CA234322325 rs902646699 |
83 | S>C | No |
ClinGen Ensembl |
|
|
rs1172261581 CA384182423 |
84 | G>A | No |
ClinGen TOPMed |
|
|
CA234322315 rs1046183220 |
86 | H>R | No |
ClinGen Ensembl |
|
|
rs1255798484 CA384182413 |
86 | H>Y | No |
ClinGen gnomAD |
|
|
CA6490725 rs756408243 |
92 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189470547 CA234322309 |
92 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1462990565 CA384182367 |
93 | Q>E | No |
ClinGen gnomAD |
|
|
rs750634897 CA6490724 |
94 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352317167 CA384182347 |
95 | D>E | No |
ClinGen TOPMed |
|
|
rs1335612591 CA384182352 |
95 | D>H | No |
ClinGen TOPMed |
|
|
CA6490723 rs767740633 |
97 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1458554972 CA384182328 |
97 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751582673 CA6490721 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286123672 CA384181909 |
101 | L>I | No |
ClinGen TOPMed |
|
|
CA6490701 rs753163982 |
103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6490699 rs759822713 |
104 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6490700 rs765732011 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs534649383 COSM938319 CA6490697 |
107 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA384181868 rs1178821655 |
108 | V>I | No |
ClinGen gnomAD |
|
|
CA384181855 rs1592226631 |
110 | P>A | No |
ClinGen Ensembl |
|
|
CA384181828 rs771730672 |
114 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771730672 CA6490694 |
114 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM693545 CA384181829 rs772898480 |
114 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA234317501 rs778722556 |
115 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384181824 rs1486095471 |
115 | A>S | No |
ClinGen TOPMed |
|
|
CA6490692 rs778722556 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384181821 rs1284916468 |
116 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA384181797 rs1472466826 |
119 | C>Y | No |
ClinGen TOPMed |
|
|
rs768583565 CA6490691 |
120 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA384181789 rs1216880846 |
120 | C>Y | No |
ClinGen gnomAD |
|
|
CA234317485 rs1005680592 |
122 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 123 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 126 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6490690 rs749097965 |
128 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs577176759 CA6490689 |
132 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384181709 rs1465009187 |
133 | L>V | No |
ClinGen TOPMed |
|
|
rs1402265929 CA384181692 |
135 | K>R | No |
ClinGen TOPMed |
|
|
rs1402265929 CA384181693 |
135 | K>T | No |
ClinGen TOPMed |
|
|
CA384181683 rs1420476093 |
136 | I>T | No |
ClinGen gnomAD |
|
|
rs868334876 CA234317460 |
140 | Q>R | No |
ClinGen Ensembl |
|
|
CA384181647 rs1264863133 |
141 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6490685 rs777918492 |
142 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6490686 rs751754345 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384181629 rs1369620715 |
144 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6490683 rs752753496 |
144 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA384181622 rs1301560274 |
145 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754320333 CA6490680 |
149 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766828739 CA6490679 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761072271 CA6490678 |
153 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371059413 CA6490677 |
153 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1345410067 COSM547720 CA384181568 |
154 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA384181546 rs1264998091 |
157 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384181545 rs1264998091 |
157 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6490675 rs111690402 |
159 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA234317414 rs796342336 |
159 | R>Q | No |
ClinGen Ensembl |
|
|
CA384181531 rs1277572187 |
160 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6490674 rs773901678 |
162 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6490672 rs768547102 |
166 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA384181437 rs1400152344 |
171 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762316558 CA6490654 |
173 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6490653 rs775434666 |
180 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384181370 rs1565833353 |
181 | E>K | No |
ClinGen Ensembl |
|
|
rs1387930088 CA384181345 |
184 | H>R | No |
ClinGen gnomAD |
|
|
CA234316979 rs923852477 |
186 | H>R | No |
ClinGen TOPMed |
|
|
rs1472882543 CA384181322 |
187 | N>S | No |
ClinGen gnomAD |
|
|
rs1386892661 CA384181314 |
188 | K>R | No |
ClinGen gnomAD |
|
|
CA6490652 rs769648978 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6490650 rs776395534 |
194 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA384181270 rs1439693130 |
195 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1439693130 CA384181272 |
195 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA384181017 rs1264324364 |
197 | M>I | No |
ClinGen TOPMed |
|
|
rs1424440459 CA384180989 |
200 | Q>E | No |
ClinGen gnomAD |
|
|
rs1424440459 CA384180990 |
200 | Q>K | No |
ClinGen gnomAD |
|
|
rs1490767235 CA384180887 |
210 | Y>* | No |
ClinGen gnomAD |
|
|
rs780279160 CA6490624 |
213 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770467285 CA6490623 |
215 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1310775122 CA384180837 |
215 | D>E | No |
ClinGen gnomAD |
|
|
rs1020741731 CA234314928 |
219 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA384180785 rs746358548 |
221 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6490622 rs746358548 |
221 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM938318 rs1269334777 CA384180783 |
221 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 221 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384180788 rs746358548 |
221 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384180774 rs1592221715 |
222 | S>F | No |
ClinGen Ensembl |
|
|
rs1237417332 CA384180768 |
223 | K>E | No |
ClinGen TOPMed |
|
|
rs757667457 CA6490620 |
224 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405294777 CA384180751 |
224 | K>T | No |
ClinGen TOPMed |
|
|
CA384180744 rs1399049725 |
225 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384180659 COSM1562163 rs1315422541 |
227 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| VAR_035673 | 227 | S>P | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs141454244 CA6490600 |
228 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141454244 CA6490601 |
228 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384180657 rs1446309612 |
228 | P>S | No |
ClinGen TOPMed |
|
|
CA234314180 rs776039801 |
232 | S>C | No |
ClinGen gnomAD |
|
|
rs758084998 CA6490598 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA234314153 rs1052391926 |
236 | S>G | No |
ClinGen TOPMed |
|
|
CA234314150 rs938995221 |
236 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769862904 CA6490595 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6490594 rs753231244 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236930268 CA384180527 |
240 | G>E | No |
ClinGen gnomAD |
|
|
CA384180519 rs750275269 |
241 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs750275269 CA6490590 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6490591 rs756003510 |
241 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252481502 CA384180508 |
242 | H>Q | No |
ClinGen gnomAD |
|
|
rs767401081 CA6490589 COSM1676801 |
243 | L>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs947806210 CA234314108 |
247 | L>V | No |
ClinGen TOPMed |
|
|
rs1315280442 CA384180443 |
249 | I>V | No |
ClinGen gnomAD |
|
|
rs775890284 CA6490586 |
250 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384180416 rs1197946133 |
251 | V>A | No |
ClinGen TOPMed |
|
|
rs765485055 CA6490585 |
252 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384180407 rs1299925366 |
252 | Q>R | No |
ClinGen gnomAD |
|
|
CA6490583 rs148903036 |
257 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA234314047 rs866585003 |
258 | A>S | No |
ClinGen Ensembl |
|
|
rs369967358 CA6490581 |
260 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6490580 rs773614284 |
261 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384180309 rs1398938849 |
261 | T>N | No |
ClinGen TOPMed |
|
|
CA384179692 rs1205553462 |
278 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764433458 CA234312740 |
283 | L>V | No |
ClinGen TOPMed |
|
|
CA384179593 rs1281300492 |
287 | K>R | No |
ClinGen TOPMed |
|
|
rs745306615 CA6490555 |
290 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6490554 rs781295277 |
291 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757251321 CA6490553 |
295 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384179488 rs1343654910 |
296 | S>R | No |
ClinGen TOPMed |
|
|
CA6490526 rs149782569 |
297 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780198125 CA6490524 |
299 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6490525 rs368117663 |
299 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6490522 rs750541289 |
300 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA384179215 rs1431463488 |
301 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192571885 CA6490520 |
304 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6490519 rs139759406 |
305 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764591813 CA6490518 |
306 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA384179162 rs1443820645 |
306 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372008063 CA6490517 |
308 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384179136 rs372008063 |
308 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6490516 rs775913842 |
309 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6490515 rs187282284 |
309 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs899194327 CA234308358 |
310 | F>I | No |
ClinGen Ensembl |
|
|
rs1399864138 CA384179110 |
311 | K>R | No |
ClinGen gnomAD |
|
|
CA6490513 rs776332258 |
312 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770589892 CA6490512 |
313 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565823750 CA384179069 |
315 | T>A | No |
ClinGen Ensembl |
|
|
rs771863542 CA6490509 |
315 | T>GS* | No |
ClinGen ExAC |
|
|
CA6490510 rs746479066 |
315 | T>K | No |
ClinGen ExAC |
|
|
rs1037698150 CA234308314 |
316 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1198978516 CA384179055 |
317 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384178992 rs1214160816 |
326 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs965438989 CA234308150 |
327 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781402419 CA6490483 |
329 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs140042804 CA6490482 |
330 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs747128789 CA6490481 |
335 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747128789 CA384178916 |
335 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777882102 CA6490480 |
336 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781738634 COSM1197947 CA234308124 |
336 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6490478 rs753272696 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1243129954 CA384178863 |
344 | S>G | No |
ClinGen gnomAD |
|
|
CA384178793 rs1249052144 |
354 | L>F | No |
ClinGen gnomAD |
|
| rs1565822567 | 357 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384178755 rs1384926920 |
358 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772226807 CA6490462 |
364 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs772226807 CA384178718 |
364 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1253615337 COSM1197946 CA384178704 |
366 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA234307267 rs890063641 |
372 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 373 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292173008 CA384178661 |
373 | I>V | No |
ClinGen gnomAD |
|
|
CA384178633 rs1361830498 |
376 | M>I | No |
ClinGen TOPMed |
|
|
rs754294007 CA6490458 |
376 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA384178619 rs1306176399 |
378 | S>I | No |
ClinGen gnomAD |
|
|
CA384178621 rs1306176399 |
378 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377441203 CA6490455 |
383 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201951303 CA234307212 |
388 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs767007670 CA384178550 |
388 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767007670 CA6490454 |
388 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1361050 rs761398033 CA6490453 |
393 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751052341 CA6490452 |
393 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA384178517 rs751052341 |
393 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1158997395 CA384178516 |
394 | S>T | No |
ClinGen gnomAD |
|
|
CA234307188 rs893183452 |
400 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 403 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384178413 rs1183647102 |
409 | R>T | No |
ClinGen TOPMed |
|
|
rs1211467708 CA384178383 |
413 | Y>* | No |
ClinGen gnomAD |
|
|
rs1484763752 CA384178381 |
414 | R>W | No |
ClinGen gnomAD |
|
|
CA6490448 rs769601793 |
416 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6490436 rs756851956 |
418 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA384177942 rs1275730299 |
419 | G>D | No |
ClinGen gnomAD |
|
|
CA6490434 rs763577127 |
425 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765019515 CA6490431 |
430 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468897826 CA384177848 |
432 | D>E | No |
ClinGen gnomAD |
|
|
rs1337433411 CA384177837 |
434 | R>T | No |
ClinGen gnomAD |
|
|
rs776278300 CA234306125 |
438 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234306130 rs903228594 COSM1361049 |
438 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6490429 rs776278300 |
438 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234306115 rs1042106632 |
441 | L>F | No |
ClinGen Ensembl |
|
|
rs767847733 CA6490428 |
442 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6490426 rs376533817 |
447 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA234306092 rs899541753 |
448 | A>T | No |
ClinGen TOPMed |
|
|
rs768886878 CA6490425 |
450 | D>G | No |
ClinGen ExAC |
|
|
rs1451069976 CA384177725 |
451 | Q>P | No |
ClinGen gnomAD |
|
|
rs1451069976 CA384177724 |
451 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1592203996 CA384177689 |
456 | T>P | No |
ClinGen Ensembl |
|
|
rs1592203996 CA384177687 |
456 | T>S | No |
ClinGen Ensembl |
|
|
rs1385964330 CA384177681 |
457 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1241259550 CA384177676 |
458 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 461 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384177652 rs1182903672 |
461 | M>V | No |
ClinGen gnomAD |
|
|
CA234306084 rs950330923 |
462 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770186212 CA6490422 |
466 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA234306057 rs759297007 |
472 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 473 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781376298 CA6490420 |
473 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6490419 rs756985976 |
473 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384177418 rs1286441924 |
476 | P>L | No |
ClinGen gnomAD |
|
|
CA6490403 rs369730686 |
478 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1334653726 CA384177389 |
478 | A>V | No |
ClinGen gnomAD |
|
|
CA384177342 rs1308263107 |
481 | I>T | No |
ClinGen gnomAD |
|
|
CA384177318 rs1411225590 |
483 | K>E | No |
ClinGen gnomAD |
|
|
CA6490402 rs763180924 |
483 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs35168890 CA6490401 |
485 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770369080 CA6490400 |
486 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1334876338 | 489 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746341791 CA6490399 |
491 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6490398 rs373532028 |
497 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1363242314 | 497 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6490396 rs747309690 |
500 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA234305811 rs991770958 |
501 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs910085444 CA234305805 |
502 | V>I | No |
ClinGen gnomAD |
|
|
rs910085444 CA384177001 |
502 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6490394 rs758034051 |
509 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs747724169 CA6490393 |
514 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6490392 rs553250810 |
515 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs779972672 CA6490389 |
519 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs750227542 CA6490387 |
523 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6490369 rs768056387 |
531 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768056387 CA6490368 |
531 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748772866 CA6490367 |
532 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM272401 CA384176498 rs1403909653 |
532 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 533 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384176395 rs1415204586 |
539 | L>F | No |
ClinGen gnomAD |
|
|
rs779912004 CA6490366 |
540 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756113494 CA6490365 |
541 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA384176369 rs1565820199 |
541 | R>S | No |
ClinGen Ensembl |
|
|
CA384176365 rs1229240789 |
542 | A>T | No |
ClinGen TOPMed |
|
|
CA384176359 rs1449233175 |
542 | A>V | No |
ClinGen gnomAD |
|
|
CA6490364 rs750280989 |
545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384176286 rs1592202570 |
548 | E>D | No |
ClinGen Ensembl |
|
|
CA234305405 rs772468790 |
548 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 550 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6490363 rs781108904 |
551 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6490362 rs757073411 |
552 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs34036164 CA6490359 |
555 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753941687 CA6490358 |
556 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6490357 rs766940470 |
560 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384176126 rs1450281738 |
562 | S>T | No |
ClinGen gnomAD |
|
|
rs761140099 CA6490356 |
567 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773616300 CA384176067 |
570 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6490354 rs772456262 |
570 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs888667810 COSM215523 CA234305327 |
573 | R>* | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs762170385 CA6490353 |
573 | R>Q | No |
ClinGen ExAC |
|
|
rs748812805 CA6490350 |
580 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384175984 rs1480390039 |
582 | D>N | No |
ClinGen gnomAD |
|
|
rs779675707 CA6490349 |
583 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1230888418 CA384175939 |
588 | V>A | No |
ClinGen gnomAD |
|
|
CA384175927 rs1203907436 |
590 | D>N | No |
ClinGen gnomAD |
|
|
CA6490348 rs769898393 |
595 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1276444472 CA384175885 |
595 | K>R | No |
ClinGen gnomAD |
|
|
rs867052401 CA234305283 |
601 | E>K | No |
ClinGen TOPMed |
|
|
rs867052401 CA384175845 |
601 | E>Q | No |
ClinGen TOPMed |
|
|
rs781238391 CA6490346 |
602 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6490328 rs745315540 |
605 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384175521 rs745315540 |
605 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384175499 CA384175500 rs3210635 |
608 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6490325 rs746846722 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6490324 rs777593850 COSM295123 |
609 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6490326 rs746846722 |
609 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384175472 rs1459850838 |
613 | E>Q | No |
ClinGen gnomAD |
|
|
CA384175461 rs1285156513 |
614 | L>W | No |
ClinGen gnomAD |
|
|
CA384175447 rs1157821382 |
616 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 618 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920259102 CA234303248 |
619 | I>F | No |
ClinGen gnomAD |
|
|
COSM1705338 rs973443758 CA384175397 |
623 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA234303225 rs973443758 |
623 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA384175377 rs1267729943 |
626 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 627 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223870576 CA384175359 |
629 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384175357 rs1223870576 |
629 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA234303184 rs71452030 |
630 | P>S | No |
ClinGen Ensembl |
|
|
rs750488490 CA6490319 |
631 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6490318 rs768079359 |
632 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA234303158 rs1015232352 |
632 | K>R | No |
ClinGen Ensembl |
|
|
CA6490317 rs757748925 |
634 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 634 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA234303154 rs372413076 |
635 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6490315 rs764538962 |
636 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751914935 CA6490316 |
636 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA384175248 rs1302362682 |
641 | T>A | No |
ClinGen gnomAD |
|
|
rs1454453897 CA384175170 |
647 | S>A | No |
ClinGen TOPMed |
|
|
CA6490314 rs763183902 |
649 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA234299929 rs908360906 |
650 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384174834 rs1468956076 |
651 | V>L | No |
ClinGen TOPMed |
|
|
CA384174832 rs1468956076 |
651 | V>M | No |
ClinGen TOPMed |
|
|
rs1173961731 CA384174823 |
652 | S>L | No |
ClinGen gnomAD |
|
|
rs372639327 CA6490293 |
653 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758849418 CA6490292 |
655 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs765053308 CA6490290 |
656 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753102255 CA6490291 |
656 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451208466 CA384174803 |
656 | L>V | No |
ClinGen gnomAD |
|
|
CA384174789 rs1441915406 |
658 | S>C | No |
ClinGen gnomAD |
|
|
CA384174776 rs1257131497 |
659 | N>K | No |
ClinGen gnomAD |
|
|
CA384174774 rs1202336311 |
660 | R>G | No |
ClinGen gnomAD |
|
|
CA234299910 rs369497577 |
662 | N>D | No |
ClinGen Ensembl |
|
|
rs759233692 CA6490289 |
665 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384174737 rs1482291797 |
665 | N>S | No |
ClinGen gnomAD |
|
|
rs753447309 CA6490288 |
666 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1397075494 CA384174718 |
668 | K>R | No |
ClinGen TOPMed |
|
|
CA384174704 rs1393068023 |
670 | Q>* | No |
ClinGen TOPMed |
|
|
CA384174677 rs1282932721 |
673 | A>V | No |
ClinGen gnomAD |
|
|
CA6490286 rs760064652 |
675 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6490285 rs773214357 |
675 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335792085 CA384174650 |
678 | S>P | No |
ClinGen gnomAD |
|
|
rs1369753375 CA384174635 |
680 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 681 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368567088 CA6490284 |
685 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs975013767 CA234299865 |
686 | Y>C | No |
ClinGen TOPMed |
|
|
CA384174591 rs1284225940 |
687 | Q>* | No |
ClinGen TOPMed |
|
|
CA384174588 rs1325957211 |
687 | Q>P | No |
ClinGen TOPMed |
|
|
CA384174560 rs1431375236 |
691 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384174552 rs1363698174 |
692 | E>Q | No |
ClinGen gnomAD |
|
|
rs776922436 CA6490258 |
695 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6490259 rs762666744 |
695 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1215055045 CA384174517 |
695 | M>T | No |
ClinGen TOPMed |
|
|
rs137971889 CA6490257 |
696 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327859052 CA384174509 |
696 | E>G | No |
ClinGen gnomAD |
|
|
rs371104785 CA6490256 |
697 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384174505 rs371104785 |
697 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6490255 rs571697657 |
698 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6490254 rs772755287 |
698 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17849720 CA234299372 |
699 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs17849720 CA384174497 |
699 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA234299369 rs967722937 |
700 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6490253 rs748686774 |
701 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA234299363 rs963581329 |
703 | A>V | No |
ClinGen TOPMed |
|
|
rs1387922517 CA384174464 |
704 | S>G | No |
ClinGen gnomAD |
|
|
CA6490250 rs755400458 |
705 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779523954 CA6490251 |
705 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384174450 rs1172409439 |
706 | Q>P | No |
ClinGen gnomAD |
|
|
rs755690491 CA6490247 |
707 | Q>C | No |
ClinGen ExAC |
|
|
CA604126717 rs1249033414 |
707 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 707 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9NVM9
No regional properties for Q9NVM9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NVM9 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integrator complex | A protein complex that stably associates with the C-terminus of RNA polymerase II and mediates 3'-end processing of small nuclear RNAs generated by RNA polymerase II. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| protein localization to nuclear envelope | A process in which a protein is transported to, or maintained at, a location within a nuclear envelope. |
| regulation of fertilization | Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of transcription elongation by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| snRNA processing | Any process involved in the conversion of a primary small nuclear RNA (snRNA) transcript into a mature snRNA molecule. The primary function of snRNAs is processing pre-messenger RNA in the nucleus. They have also been shown to aid in the regulation of transcription factors (7SK RNA) or RNA polymerase II (B2 RNA), and maintaining the telomeres. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKIFSESHKT | VFVVDHCPYM | AESCRQHVEF | DMLVKNRTQG | IIPLAPISKS | LWTCSVESSM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EYCRIMYDIF | PFKKLVNFIV | SDSGAHVLNS | WTQEDQNLQE | LMAALAAVGP | PNPRADPECC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SILHGLVAAV | ETLCKITEYQ | HEARTLLMEN | AERVGNRGRI | ICITNAKSDS | HVRMLEDCVQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETIHEHNKLA | ANSDHLMQIQ | KCELVLIHTY | PVGEDSLVSD | RSKKELSPVL | TSEVHSVRAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RHLATKLNIL | VQQHFDLAST | TITNIPMKEE | QHANTSANYD | VELLHHKDAH | VDFLKSGDSH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGGGSREGSF | KETITLKWCT | PRTNNIELHY | CTGAYRISPV | DVNSRPSSCL | TNFLLNGRSV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLEQPRKSGS | KVISHMLSSH | GGEIFLHVLS | SSRSILEDPP | SISEGCGGRV | TDYRITDFGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FMRENRLTPF | LDPRYKIDGS | LEVPLERAKD | QLEKHTRYWP | MIISQTTIFN | MQAVVPLASV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IVKESLTEED | VLNCQKTIYN | LVDMERKNDP | LPISTVGTRG | KGPKRDEQYR | IMWNELETLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RAHINNSEKH | QRVLECLMAC | RSKPPEEEER | KKRGRKREDK | EDKSEKAVKD | YEQEKSWQDS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ERLKGILERG | KEELAEAEII | KDSPDSPEPP | NKKPLVEMDE | TPQVEKSKGP | VSLLSLWSNR |
| 670 | 680 | 690 | 700 | ||
| INTANSRKHQ | EFAGRLNSVN | NRAELYQHLK | EENGMETTEN | GKASRQ |