Q9P2I0
PR
Gene name |
CPSF2 (CPSF100, KIAA1367) |
Protein name |
Cleavage and polyadenylation specificity factor subunit 2 |
Names |
Cleavage and polyadenylation specificity factor 100 kDa subunit, CPSF 100 kDa subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:53981 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9P2I0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6URG | EM | 300 A | F | 1-782 | PDB |
| 6V4X | EM | 320 A | I | 1-782 | PDB |
| AF-Q9P2I0-F1 | Predicted | AlphaFoldDB |
409 variants for Q9P2I0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1179288271 CA390647273 |
2 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777562704 CA7315023 COSM958851 |
4 | I>V | large_intestine endometrium Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7315024 rs141334420 |
7 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7315025 rs770435353 |
10 | L>F | No |
ClinGen ExAC |
|
|
CA390647339 rs1291081353 |
11 | S>T | No |
ClinGen TOPMed |
|
|
CA7315026 rs776080823 |
13 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs925227748 CA390647392 |
19 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA265615664 rs925227748 |
19 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390647402 rs1567016758 |
20 | C>* | No |
ClinGen Ensembl |
|
|
CA7315027 rs745544414 |
21 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA390647407 rs745544414 |
21 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
CA7315028 rs769414774 |
24 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390647430 rs1487081997 |
25 | V>I | No |
ClinGen gnomAD |
|
|
CA7315030 rs763212353 |
30 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315032 rs774724211 |
32 | L>* | No |
ClinGen ExAC |
|
|
rs893358614 CA265615692 |
35 | G>D | No |
ClinGen TOPMed |
|
|
CA7315034 rs767723845 |
37 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs762366166 CA390647517 |
37 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315033 rs762366166 |
37 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390647527 rs1256497965 |
38 | E>G | No |
ClinGen gnomAD |
|
|
rs1168219543 CA390647525 |
38 | E>K | No |
ClinGen TOPMed |
|
|
CA390647534 rs750505948 |
39 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534953051 CA265615724 |
39 | H>Q | No |
ClinGen 1000Genomes |
|
|
rs750505948 CA7315035 |
39 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193176660 CA390647539 |
40 | F>I | No |
ClinGen TOPMed |
|
|
CA7315036 rs761015090 |
42 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766707142 CA7315037 |
43 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA390647570 rs1268419781 |
43 | D>N | No |
ClinGen TOPMed |
|
|
CA390647596 rs1472674633 |
45 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752598231 CA7315038 |
47 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752598231 CA390647626 |
47 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs147996566 CA265615732 |
48 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs1183110159 CA390647993 |
57 | A>V | No |
ClinGen TOPMed |
|
|
CA7315057 rs759767190 |
63 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1471486466 CA390648048 |
66 | L>V | No |
ClinGen TOPMed |
|
|
CA390648057 rs1256759171 |
67 | H>R | No |
ClinGen TOPMed |
|
|
CA390648079 rs1595053184 |
71 | L>I | No |
ClinGen Ensembl |
|
|
CA7315059 rs372145276 |
72 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372145276 CA390648088 |
72 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595053191 CA390648085 |
72 | P>S | No |
ClinGen Ensembl |
|
|
rs1432762116 CA390648104 |
75 | V>I | No |
ClinGen gnomAD |
|
|
CA265617899 rs984701274 |
76 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755623894 CA7315063 |
79 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA390648134 rs755623894 |
79 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA390648162 rs1595053217 |
84 | I>V | No |
ClinGen Ensembl |
|
|
CA390648173 rs1323077990 |
85 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768328034 CA7315066 |
87 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315067 rs779183068 |
88 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390648200 rs1402450389 |
90 | V>I | No |
ClinGen TOPMed |
|
|
CA7315069 TCGA novel CA390648267 rs772767378 |
98 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA265617927 rs887302335 |
98 | M>R | No |
ClinGen Ensembl |
|
|
rs748515128 CA7315068 |
98 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315070 rs142923243 |
100 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs747456628 CA7315071 |
102 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7315089 rs778247450 |
104 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1455505490 CA390648365 |
105 | R>* | No |
ClinGen gnomAD |
|
|
rs1350880939 CA390648367 COSM553971 |
105 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7315093 rs745957916 |
107 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390648453 rs1238891117 |
112 | T>R | No |
ClinGen gnomAD |
|
|
CA265618108 rs890061655 |
113 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs763119466 CA7315096 |
121 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226962697 CA390648557 |
122 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390648604 rs1219172395 |
126 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 132 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265618805 rs961335639 |
140 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 146 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371213615 CA390649054 |
146 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs983081687 CA265618816 |
146 | I>M | No |
ClinGen TOPMed |
|
|
CA7315112 rs371213615 |
146 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403920966 CA390649092 |
148 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760502958 CA7315116 |
152 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7315117 rs770570776 |
156 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1323264137 CA390649346 |
162 | I>V | No |
ClinGen gnomAD |
|
|
CA390649389 rs1379298970 |
164 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 170 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941711773 CA265618886 |
175 | D>G | No |
ClinGen TOPMed |
|
|
CA390649703 rs1168902729 |
181 | E>K | No |
ClinGen gnomAD |
|
|
rs1161861129 CA390650541 |
185 | N>S | No |
ClinGen gnomAD |
|
|
rs1393377876 CA390650578 |
188 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315137 rs748254772 |
191 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309527247 CA390650636 |
193 | S>G | No |
ClinGen TOPMed |
|
|
CA390650790 rs1298342251 |
204 | N>I | No |
ClinGen gnomAD |
|
|
CA7315141 rs769824473 |
206 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7315144 rs763642450 |
208 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390650876 rs1356863721 |
210 | P>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 215 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751255139 CA7315146 |
216 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7315178 rs758714783 |
226 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1446318975 CA390651643 |
227 | L>F | No |
ClinGen TOPMed |
|
|
CA390651649 rs1290469876 |
227 | L>P | No |
ClinGen TOPMed |
|
|
CA265623501 COSM958856 rs981925568 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs777845000 CA7315179 |
229 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1229873862 CA390651670 |
230 | D>Y | No |
ClinGen TOPMed |
|
|
CA390651684 rs1376316716 |
231 | G>R | No |
ClinGen gnomAD |
|
|
rs755979515 CA7315181 |
232 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA265623520 rs139682119 |
235 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 238 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149920875 CA7315182 |
241 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749285949 CA7315183 |
242 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315184 rs768446704 |
246 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315186 rs372752502 |
248 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1340810631 CA390652397 |
249 | L>P | No |
ClinGen gnomAD |
|
|
CA7315187 rs377174006 |
250 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772740568 CA7315188 |
252 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA265623552 rs57563986 |
255 | R>K | No |
ClinGen Ensembl |
|
|
rs60119434 CA265623557 |
258 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370061109 CA7315189 |
262 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430679784 CA390652574 |
263 | V>I | No |
ClinGen TOPMed |
|
|
rs1178072840 CA390652628 |
267 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390652649 rs766754680 |
269 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315192 rs760079499 |
273 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1167010535 CA390652766 |
278 | E>* | No |
ClinGen gnomAD |
|
|
rs1372638017 CA390652773 |
278 | E>V | No |
ClinGen gnomAD |
|
|
CA390652814 rs1567020883 |
281 | K>R | No |
ClinGen Ensembl |
|
|
CA7315213 rs375811121 |
284 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7315214 rs770138083 |
298 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7315216 rs201331906 |
300 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376230933 CA7315218 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs892281737 COSM958857 CA265623964 |
306 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs892281737 CA390653257 |
306 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762192249 CA7315219 |
309 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315221 rs750611851 |
310 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148756935 CA7315222 |
314 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 316 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265624021 rs112871231 COSM198334 |
319 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7315226 rs565277700 |
319 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746521115 CA7315227 |
320 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1169861376 CA390653512 |
321 | P>S | No |
ClinGen TOPMed |
|
|
CA390653521 rs1567021143 |
322 | S>N | No |
ClinGen Ensembl |
|
|
CA265624032 rs201746757 |
323 | P>A | No |
ClinGen Ensembl |
|
|
CA390653549 rs1235963149 |
324 | K>E | No |
ClinGen gnomAD |
|
|
rs745631026 CA7315230 |
326 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315231 rs745461285 |
327 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390653618 rs1471476028 |
329 | S>C | No |
ClinGen gnomAD |
|
|
rs769654333 CA7315232 |
329 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022185416 CA265624073 |
330 | Q>L | No |
ClinGen TOPMed |
|
|
rs1408618806 CA390653646 |
331 | P>T | No |
ClinGen gnomAD |
|
|
CA7315234 rs763407089 |
333 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs958465175 CA390653713 |
335 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA390653727 rs1238477357 |
336 | G>A | No |
ClinGen TOPMed |
|
|
CA7315235 rs142338637 |
336 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs369411839 CA7315236 |
340 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408385839 CA390653811 |
340 | D>E | No |
ClinGen gnomAD |
|
|
rs369411839 CA390653794 |
340 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390653786 rs1306989969 |
340 | D>N | No |
ClinGen gnomAD |
|
|
rs369411839 CA7315237 |
340 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281788861 CA390653863 |
343 | I>M | No |
ClinGen gnomAD |
|
|
rs1351960492 CA390653869 |
344 | Q>* | No |
ClinGen gnomAD |
|
|
rs1218747005 CA390653881 |
344 | Q>H | No |
ClinGen gnomAD |
|
|
CA390653918 rs1276542453 |
346 | C>F | No |
ClinGen gnomAD |
|
|
CA390653981 rs1211930161 |
349 | P>L | No |
ClinGen gnomAD |
|
|
CA265624111 rs543591153 |
349 | P>S | No |
ClinGen gnomAD |
|
|
rs767638006 CA7315238 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7315239 rs750704136 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA390654026 rs1183631661 |
353 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7315241 rs764988775 |
356 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7315242 rs752508172 |
360 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA265624125 rs992966833 |
361 | P>T | No |
ClinGen Ensembl |
|
|
CA390654143 rs1396400870 |
362 | G>V | No |
ClinGen gnomAD |
|
|
rs527771956 CA7315243 |
364 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751444960 CA7315245 |
364 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs527771956 CA7315244 |
364 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA265624139 rs779815756 |
365 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7315246 rs541257594 |
366 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7315247 rs780644457 |
366 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390654219 rs1567021263 |
369 | I>M | No |
ClinGen Ensembl |
|
|
CA390654241 rs745532536 |
371 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7315248 rs745532536 |
371 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1395891789 CA390654313 |
376 | I>T | No |
ClinGen TOPMed |
|
|
CA390654307 rs1273560219 |
376 | I>V | No |
ClinGen gnomAD |
|
|
CA390654352 rs1235106271 |
379 | I>T | No |
ClinGen gnomAD |
|
|
rs762750343 CA7315265 |
384 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1207779042 CA390655703 |
386 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 388 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315267 rs751532814 |
394 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA390655868 rs751532814 |
394 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390655907 rs1245712532 |
396 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1429751973 CA390655978 |
399 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315268 rs757140529 |
402 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767065295 CA265633778 |
408 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315270 rs377078324 |
410 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755776421 CA7315271 |
412 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1397350535 CA390656233 |
412 | S>P | No |
ClinGen gnomAD |
|
|
rs1270675035 CA390656249 |
413 | K>E | No |
ClinGen TOPMed |
|
|
rs1213795393 CA390656276 |
414 | E>G | No |
ClinGen TOPMed |
|
|
CA390656437 rs1199995992 |
415 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA390656449 rs1385794188 |
416 | D>N | No |
ClinGen Ensembl |
|
|
CA7315286 rs767473094 |
416 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315287 rs750265798 |
417 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390656467 rs1253302205 |
417 | I>V | No |
ClinGen TOPMed |
|
|
CA390656516 rs1408986981 |
419 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7315288 rs760233017 |
424 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315289 rs760233017 |
424 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753565803 CA7315290 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754653520 CA7315291 |
426 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779458422 CA7315292 |
429 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390656718 rs1595065177 |
430 | D>A | No |
ClinGen Ensembl |
|
|
rs1567025235 CA390656757 |
432 | P>L | No |
ClinGen Ensembl |
|
|
CA7315295 rs759034098 |
433 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7315297 rs747408567 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7315298 COSM243828 rs376889601 |
437 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs765906946 COSM70294 CA7315300 |
443 | M>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA265634321 rs113965317 |
443 | M>V | No |
ClinGen Ensembl |
|
|
rs769975028 COSM1516315 CA7315301 |
445 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA265634343 rs113796172 |
446 | E>G | No |
ClinGen Ensembl |
|
|
CA7315302 rs774187946 |
449 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761607995 COSM958861 CA7315303 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1330822762 CA390657044 |
452 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 452 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315306 rs773228796 |
460 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368216595 CA390657202 |
463 | M>I | No |
ClinGen gnomAD |
|
|
rs1395564960 CA390657200 |
463 | M>T | No |
ClinGen TOPMed |
|
|
rs760481268 CA7315307 |
465 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1280601931 CA390657256 |
467 | P>L | No |
ClinGen gnomAD |
|
|
rs1340961603 CA390657266 |
468 | E>G | No |
ClinGen gnomAD |
|
|
rs1250018536 CA390657286 |
469 | E>D | No |
ClinGen gnomAD |
|
|
CA7315308 rs765961681 |
469 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1481810928 CA390657303 |
471 | I>F | No |
ClinGen gnomAD |
|
|
CA7315310 rs759327565 |
471 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753365553 CA7315309 |
471 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs1267272459 CA390657322 |
472 | K>R | No |
ClinGen gnomAD |
|
|
rs932551439 CA265634425 |
473 | W>* | No |
ClinGen Ensembl |
|
|
rs764971357 CA7315311 |
474 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1175896132 CA390657375 |
476 | Y>C | No |
ClinGen TOPMed |
|
|
rs1365599870 CA390657398 |
478 | E>G | No |
ClinGen TOPMed |
|
|
CA390657393 rs1472961464 |
478 | E>K | No |
ClinGen TOPMed |
|
|
CA390657402 rs1195931959 |
479 | I>F | No |
ClinGen gnomAD |
|
|
rs777963814 CA7315314 |
480 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 481 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390657528 rs1428899556 |
482 | P>L | No |
ClinGen gnomAD |
|
|
CA390657620 rs1415625687 |
489 | E>A | No |
ClinGen gnomAD |
|
|
rs202185025 CA7315331 |
489 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390657808 rs1362154119 |
503 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751841171 CA7315335 |
510 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA265635209 rs377188514 |
510 | P>T | No |
ClinGen Ensembl |
|
|
CA7315336 rs375157970 |
511 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454335089 CA390658462 |
512 | D>A | No |
ClinGen TOPMed |
|
|
rs768022351 CA7315337 |
513 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA390658480 rs1235725511 |
513 | Q>P | No |
ClinGen gnomAD |
|
|
CA390658478 rs1235725511 |
513 | Q>R | No |
ClinGen gnomAD |
|
|
CA390658566 rs1320185581 |
520 | T>S | No |
ClinGen gnomAD |
|
|
rs1244070733 CA390658605 |
523 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7315341 rs756213135 COSM958863 |
525 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA265635235 rs76004094 |
525 | T>K | No |
ClinGen Ensembl |
|
|
CA7315342 rs140484405 |
526 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7315344 rs755124126 |
528 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA390658708 rs1275465194 |
531 | I>L | No |
ClinGen gnomAD |
|
|
rs144528379 CA7315345 |
532 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755284631 CA7315365 |
534 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436984394 CA390658831 |
534 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs779018867 CA7315366 |
535 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs779018867 CA7315367 |
535 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs960643312 CA265635864 |
540 | Y>* | No |
ClinGen TOPMed |
|
|
CA390658940 rs1346435364 |
542 | G>A | No |
ClinGen TOPMed |
|
|
rs1374231276 CA390658947 |
543 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1233574965 CA390658949 |
543 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390659026 rs1232431389 |
549 | I>V | No |
ClinGen TOPMed |
|
| rs758712860 | 552 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 554 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265635899 rs866262727 |
556 | M>T | No |
ClinGen Ensembl |
|
|
CA390659129 rs1444262196 |
556 | M>V | No |
ClinGen TOPMed |
|
|
CA390659170 rs1376448252 |
558 | P>S | No |
ClinGen TOPMed |
|
|
rs569405434 CA7315371 |
559 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390659190 rs1567026145 |
560 | Q>* | No |
ClinGen Ensembl |
|
|
CA390659201 rs1397924171 |
561 | L>V | No |
ClinGen TOPMed |
|
|
CA7315373 rs371656822 |
564 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1435841453 CA390659256 |
565 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156444545 CA390659294 |
569 | E>Q | No |
ClinGen gnomAD |
|
|
rs146625242 CA7315376 |
572 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390659377 rs1157260995 |
575 | A>G | No |
ClinGen TOPMed |
|
|
rs776767446 CA265635936 |
579 | R>C | No |
ClinGen gnomAD |
|
|
CA390659448 rs1160049761 |
579 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7315378 rs772470150 |
580 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390659523 rs1595066879 |
584 | K>E | No |
ClinGen Ensembl |
|
|
CA7315381 rs770312244 |
586 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390659584 rs1567026215 |
587 | K>E | No |
ClinGen Ensembl |
|
|
CA390659646 rs754311358 |
590 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs754311358 CA7315383 |
590 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315384 rs759541068 |
592 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7315386 rs752885821 |
594 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199847454 CA390659807 |
599 | A>S | No |
ClinGen TOPMed |
|
|
rs1269811529 CA390659843 |
601 | S>N | No |
ClinGen gnomAD |
|
|
rs375038393 CA7315387 |
604 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390659959 rs1273643504 |
607 | Q>* | No |
ClinGen gnomAD |
|
|
rs754909622 CA7315413 |
610 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 611 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7315415 rs576542620 |
613 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1397792837 CA390660769 |
616 | S>G | No |
ClinGen TOPMed |
|
|
CA265636829 rs981738845 |
621 | C>G | No |
ClinGen Ensembl |
|
|
CA265636833 COSM958865 rs765171535 |
626 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 628 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777405906 CA7315417 |
629 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1400713018 CA390660909 |
630 | W>L | No |
ClinGen TOPMed |
|
|
CA265636859 rs369230200 |
632 | D>G | No |
ClinGen ESP |
|
|
CA390660953 rs1295068486 |
636 | D>E | No |
ClinGen gnomAD |
|
|
rs1595067637 CA390660950 |
636 | D>G | No |
ClinGen Ensembl |
|
|
rs777032661 CA7315421 |
637 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA7315422 rs746403037 |
638 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA390660974 rs1567026718 |
640 | S>P | No |
ClinGen Ensembl |
|
|
rs929103863 CA265636878 |
641 | K>R | No |
ClinGen gnomAD |
|
|
rs929103863 CA390660983 |
641 | K>T | No |
ClinGen gnomAD |
|
|
CA390661002 rs1352189640 |
644 | T>A | No |
ClinGen gnomAD |
|
|
rs775775505 CA7315425 |
645 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs763142100 CA7315426 |
646 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7315429 rs762100349 |
650 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762100349 CA390661040 |
650 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390661061 rs1567026772 |
653 | L>I | No |
ClinGen Ensembl |
|
|
CA390661086 rs753661309 |
656 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs753661309 CA7315432 |
656 | D>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 659 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265636909 rs1027078752 |
661 | E>D | No |
ClinGen TOPMed |
|
|
CA7315436 rs752562154 |
662 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150232902 CA7315435 |
662 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757935812 CA7315437 |
666 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs532191868 CA265636932 |
667 | P>R | No |
ClinGen Ensembl |
|
|
CA7315438 rs777217459 |
669 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7315439 rs746715184 |
670 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7315440 rs756904086 |
671 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1345229717 CA390661185 |
671 | S>I | No |
ClinGen gnomAD |
|
|
rs781478731 CA7315441 COSM3936660 |
672 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1293260545 CA390661196 |
673 | I>T | No |
ClinGen TOPMed |
|
|
CA7315443 rs746232470 |
673 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376177291 CA265636972 |
675 | Q>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1296767468 CA390661216 |
676 | Q>R | No |
ClinGen TOPMed |
|
|
rs776149602 CA7315446 |
677 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265636984 rs1039814863 |
678 | A>T | No |
ClinGen gnomAD |
|
|
CA390661234 rs749759817 |
679 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA265636994 rs557180056 |
679 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7315447 rs749759817 |
679 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs557180056 CA390661232 |
679 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390661251 rs1414978001 |
681 | S>T | No |
ClinGen TOPMed |
|
| rs1461294151 | 681 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 682 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390661267 rs762005562 |
683 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478126312 CA390661271 |
684 | G>A | No |
ClinGen TOPMed |
|
|
CA265637014 rs1051749868 CA390661268 |
684 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767765242 CA7315451 |
685 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1567026899 CA390661274 |
685 | D>Y | No |
ClinGen Ensembl |
|
|
CA7315453 rs759379337 |
686 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315455 rs764900451 |
687 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs202116587 CA265637034 |
689 | E>G | No |
ClinGen Ensembl |
|
|
CA390661302 rs1313220623 |
689 | E>K | No |
ClinGen gnomAD |
|
|
CA7315456 rs752654108 |
690 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758309730 CA7315457 |
691 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315459 rs751066616 |
692 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7315458 rs763635929 |
692 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756921223 CA7315460 |
694 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780913765 CA7315461 |
697 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7315462 rs149068504 |
699 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780540594 CA7315464 |
699 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149068504 CA7315463 |
699 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769279245 CA7315466 |
701 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7315467 rs779191547 |
702 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771978934 CA7315469 |
705 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390662056 rs1451244054 |
712 | Q>* | No |
ClinGen gnomAD |
|
|
CA390662394 rs998257533 |
730 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM958866 rs998257533 CA265638136 |
730 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs368250294 CA7315485 |
730 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316387899 CA390662417 |
731 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA265638143 rs1025334318 |
731 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390662404 rs1230129493 |
731 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544046075 CA7315486 |
733 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7315487 rs772214665 |
734 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 735 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777693534 CA7315488 |
739 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1182354372 CA390662544 |
741 | V>I | No |
ClinGen gnomAD |
|
|
rs865786070 CA265638172 |
742 | L>F | No |
ClinGen Ensembl |
|
|
rs200293175 CA7315490 |
745 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1416789219 CA390662600 |
748 | V>A | No |
ClinGen gnomAD |
|
|
CA7315491 rs201661948 |
751 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 751 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760264548 CA7315517 |
753 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7315516 rs773141020 |
753 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1375042075 CA390662661 |
756 | G>V | No |
ClinGen TOPMed |
|
|
rs774938949 CA265638525 |
757 | R>C | No |
ClinGen gnomAD |
|
|
rs866534137 COSM1371604 CA265638540 |
757 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA390662694 rs1449037483 |
762 | G>S | No |
ClinGen TOPMed |
|
|
CA390662703 rs1253735914 |
763 | C>Y | No |
ClinGen TOPMed |
|
|
CA390662709 rs1272236323 |
764 | L>V | No |
ClinGen gnomAD |
|
|
rs776445565 CA7315519 |
766 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200418737 CA390662749 |
769 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7315520 rs759241673 |
771 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA265638556 rs754032231 |
773 | D>E | No |
ClinGen Ensembl |
|
|
rs753000387 CA7315522 |
776 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 777 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1013160226 CA265638563 |
778 | Q>* | No |
ClinGen TOPMed |
|
|
rs755148453 CA7315523 |
778 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303509813 CA390662832 |
781 | I>T | No |
ClinGen TOPMed |
|
|
CA390662840 rs1567027886 |
782 | V>A | No |
ClinGen Ensembl |
|
|
rs1437917641 CA390662845 |
783 | V>L | No |
ClinGen TOPMed |
|
|
CA390662847 rs1567027897 |
783 | V>Y | No |
ClinGen Ensembl |
No associated diseases with Q9P2I0
5 regional properties for Q9P2I0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Metallo-beta-lactamase | 17 - 223 | IPR001279 |
| domain | Zn-dependent metallo-hydrolase, RNA specificity domain | 529 - 591 | IPR011108 |
| domain | Beta-Casp domain | 243 - 368 | IPR022712 |
| domain | Cleavage and polyadenylation specificity factor 2, C-terminal | 608 - 779 | IPR025069 |
| domain | CPSF2, metallo-hydrolase domain | 7 - 204 | IPR035639 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mRNA cleavage and polyadenylation specificity factor complex | A multisubunit complex that binds to the canonical AAUAAA hexamer and to U-rich upstream sequence elements on the pre-mRNA, thereby stimulating the otherwise weakly active and nonspecific polymerase to elongate efficiently RNAs containing a poly(A) signal. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA 3'-end processing by stem-loop binding and cleavage | Any mRNA 3'-end processing that involves the binding to and cleavage of a stem-loop structure. For example, histone mRNAs contain a highly conserved stem-loop sequence at the 3' end of the mRNA with a 6 base pairs (bp) stem and a 4-nt loop. The mRNA is cleaved between these two elements, after the fourth or fifth nucleotide, which is typically an adenosine. |
| mRNA polyadenylation | The enzymatic addition of a sequence of 40-200 adenylyl residues at the 3' end of a eukaryotic mRNA primary transcript. |
| pre-mRNA cleavage required for polyadenylation | The targeted, endonucleolytic cleavage of a pre-mRNA, required for polyadenylation of the 3' end. This cleavage is directed by binding sites near the 3' end of the mRNA and leaves a 3' hydoxyl end which then becomes a target for adenylation. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12102 | CFT2 | Cleavage factor two protein 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9V3D6 | Cpsf100 | Probable cleavage and polyadenylation specificity factor subunit 2 | Drosophila melanogaster (Fruit fly) | PR |
| O35218 | Cpsf2 | Cleavage and polyadenylation specificity factor subunit 2 | Mus musculus (Mouse) | PR |
| O17403 | cpsf-2 | Probable cleavage and polyadenylation specificity factor subunit 2 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSIIKLTTL | SGVQEESALC | YLLQVDEFRF | LLDCGWDEHF | SMDIIDSLRK | HVHQIDAVLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHPDPLHLGA | LPYAVGKLGL | NCAIYATIPV | YKMGQMFMYD | LYQSRHNTED | FTLFTLDDVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AAFDKIQQLK | FSQIVNLKGK | GHGLSITPLP | AGHMIGGTIW | KIVKDGEEEI | VYAVDFNHKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EIHLNGCSLE | MLSRPSLLIT | DSFNATYVQP | RRKQRDEQLL | TNVLETLRGD | GNVLIAVDTA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRVLELAQLL | DQIWRTKDAG | LGVYSLALLN | NVSYNVVEFS | KSQVEWMSDK | LMRCFEDKRN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NPFQFRHLSL | CHGLSDLARV | PSPKVVLASQ | PDLECGFSRD | LFIQWCQDPK | NSIILTYRTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PGTLARFLID | NPSEKITEIE | LRKRVKLEGK | ELEEYLEKEK | LKKEAAKKLE | QSKEADIDSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DESDIEEDID | QPSAHKTKHD | LMMKGEGSRK | GSFFKQAKKS | YPMFPAPEER | IKWDEYGEII |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KPEDFLVPEL | QATEEEKSKL | ESGLTNGDEP | MDQDLSDVPT | KCISTTESIE | IKARVTYIDY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGRSDGDSIK | KIINQMKPRQ | LIIVHGPPEA | SQDLAECCRA | FGGKDIKVYM | PKLHETVDAT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SETHIYQVRL | KDSLVSSLQF | CKAKDAELAW | IDGVLDMRVS | KVDTGVILEE | GELKDDGEDS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EMQVEAPSDS | SVIAQQKAMK | SLFGDDEKET | GEESEIIPTL | EPLPPHEVPG | HQSVFMNEPR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LSDFKQVLLR | EGIQAEFVGG | VLVCNNQVAV | RRTETGRIGL | EGCLCQDFYR | IRDLLYEQYA |
| IV |