Q06265
PR
Gene name |
EXOSC9 (PMSCL1) |
Protein name |
Exosome complex component RRP45 |
Names |
Autoantigen PM/Scl 1, Exosome component 9, P75 polymyositis-scleroderma overlap syndrome-associated autoantigen, Polymyositis/scleroderma autoantigen 1, Polymyositis/scleroderma autoantigen 75 kDa, PM/Scl-75 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5393 |
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 Q06265
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2NN6 | X-ray | 335 A | A | 1-302 | PDB |
| 6D6Q | EM | 345 A | A | 1-439 | PDB |
| 6D6R | EM | 345 A | A | 1-439 | PDB |
| 6H25 | EM | 380 A | A | 1-439 | PDB |
| AF-Q06265-F1 | Predicted | AlphaFoldDB |
368 variants for Q06265
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3063247 RCV001549697 RCV000664415 VAR_081052 RCV001260241 rs139632595 |
14 | L>P | Pontocerebellar hypoplasia, type 1D PCH1D; reduced EXOSC9 and exosome levels in patient cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001849035 RCV000664416 rs372318863 CA3063413 |
161 | R>* | Pontocerebellar hypoplasia, type 1D [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081053 | 161 | R>del | PCH1D; reduced EXOSC9 and exosome levels in patient cells [UniProt] | Yes | UniProt |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560621034 CA358040824 |
3 | E>G | No |
ClinGen Ensembl |
|
|
CA358040832 rs1166219167 |
4 | T>A | No |
ClinGen gnomAD |
|
|
rs1226284987 CA358040845 |
5 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3063239 rs749982002 |
6 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385943891 CA358040878 COSM585567 |
7 | S>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1325552891 CA358040871 |
7 | S>P | No |
ClinGen gnomAD |
|
|
CA3063240 rs567231265 |
8 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779424918 CA3063241 |
8 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746567688 CA3063242 |
10 | E>K | No |
ClinGen ExAC |
|
|
rs768690807 CA3063243 |
12 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs768690807 CA358040948 |
12 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748102152 CA3063245 |
13 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358040984 rs1578494974 |
15 | L>V | No |
ClinGen Ensembl |
|
|
CA358040996 rs1207308069 |
16 | R>C | No |
ClinGen gnomAD |
|
|
CA3063248 rs749467723 |
18 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA358041050 rs1560621125 |
20 | E>Q | No |
ClinGen Ensembl |
|
|
CA104727740 rs564772809 |
23 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3063275 rs775600575 |
25 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358041283 rs11556594 |
25 | D>N | No |
ClinGen TOPMed |
|
|
CA3063276 rs775600575 |
25 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs11556594 CA104727749 |
25 | D>Y | No |
ClinGen TOPMed |
|
|
CA358041296 rs1227850472 |
26 | G>S | No |
ClinGen TOPMed |
|
|
rs1434052146 CA358041314 |
27 | R>T | No |
ClinGen gnomAD |
|
|
CA3063278 rs776837359 |
28 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3063279 rs762186864 |
28 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765550002 CA3063280 |
29 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs149738039 CA3063281 |
30 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3063282 rs769305360 |
32 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1282940428 CA358041396 |
32 | Y>C | No |
ClinGen gnomAD |
|
|
rs1282940428 CA358041398 |
32 | Y>F | No |
ClinGen gnomAD |
|
|
COSM3660858 CA104727793 rs762752082 |
33 | R>G | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1027213072 CA104727799 |
34 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs144563945 CA358041449 |
35 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104727804 rs982833680 |
35 | I>N | No |
ClinGen TOPMed |
|
|
CA358041462 rs1439202058 |
36 | R>S | No |
ClinGen TOPMed |
|
|
rs1481694040 CA358041468 |
37 | I>F | No |
ClinGen gnomAD |
|
|
CA3063285 rs752296587 |
41 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1418751240 CA358041520 |
41 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3063286 rs755987255 |
43 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA104727815 rs995052632 |
43 | Y>F | No |
ClinGen Ensembl |
|
|
CA3063289 rs545738309 |
45 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3063291 rs778689649 |
47 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3063290 rs367640449 |
47 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA104727872 rs969995825 |
49 | E>D | No |
ClinGen Ensembl |
|
|
rs565461980 CA3063293 |
53 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565461980 CA3063292 |
53 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472100946 CA358041661 |
54 | R>T | No |
ClinGen TOPMed |
|
|
CA358041736 rs1456702949 |
55 | V>I | No |
ClinGen Ensembl |
|
|
rs781189655 CA3063314 |
58 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063313 rs768712413 |
58 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3063315 rs139649132 |
60 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770465338 CA3063316 |
61 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1380811512 CA358041817 |
62 | E>G | No |
ClinGen TOPMed |
|
|
CA3063319 rs771456914 |
63 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771456914 CA358041830 |
63 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3063318 rs763366361 |
63 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1347321929 CA358041835 |
64 | V>M | No |
ClinGen gnomAD |
|
|
CA3063320 rs541223974 |
65 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1661725 rs1298180887 CA358041852 |
66 | P>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs763643568 CA3063322 |
68 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753352071 CA358041887 |
69 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761774440 CA3063324 |
69 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753352071 CA3063323 |
69 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765207306 CA3063325 |
70 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750382350 CA3063326 |
70 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA358041898 rs765207306 COSM3945930 |
70 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3063327 rs373910984 |
72 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104728470 rs970205798 |
73 | E>K | No |
ClinGen TOPMed |
|
|
CA3063328 COSM3660859 rs753982980 |
73 | E>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751795336 CA3063329 |
74 | G>V | No |
ClinGen ExAC |
|
|
rs1256565049 CA358041945 |
75 | I>V | No |
ClinGen TOPMed |
|
|
CA358041960 rs1560621895 |
76 | L>F | No |
ClinGen Ensembl |
|
|
CA3063331 rs755224300 |
77 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA104728518 rs1044055276 |
78 | F>C | No |
ClinGen Ensembl |
|
| rs762409826 | 79 | N>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063332 rs781301648 |
80 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA358042011 rs1178588605 |
83 | S>C | No |
ClinGen gnomAD |
|
|
CA358042015 rs1276715935 |
84 | Q>* | No |
ClinGen TOPMed |
|
|
rs201639791 CA3063337 |
87 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201639791 CA104728590 |
87 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358042039 rs1158383991 |
87 | A>V | No |
ClinGen gnomAD |
|
|
CA104728622 rs771367001 |
88 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774633962 CA3063339 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771367001 CA3063338 |
88 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768228493 CA3063341 |
89 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764758041 CA3063344 |
91 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761262917 CA3063343 COSM1050559 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3063345 rs944611694 |
92 | P>S | No |
ClinGen TOPMed |
|
|
rs1201119281 CA358042097 |
95 | Q>L | No |
ClinGen Ensembl |
|
|
CA3063364 rs747801924 |
104 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230774301 COSM1050561 CA358042157 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772776875 CA3063366 |
105 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3063365 rs769234891 |
105 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3063368 COSM1205850 rs762848428 |
113 | S>L | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 114 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063371 rs371058415 |
116 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371058415 CA3063370 |
116 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767354279 CA3063372 |
118 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063374 rs752808077 |
120 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063375 rs756465279 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA358042293 rs1465112221 |
125 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1413875004 CA358042301 |
126 | G>D | No |
ClinGen TOPMed |
|
|
CA3063378 rs757811725 |
126 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA358042308 rs1489221874 |
127 | E>G | No |
ClinGen gnomAD |
|
|
rs1384900024 CA358042313 |
128 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs771753934 CA358042332 |
129 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063392 rs771753934 |
129 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063393 rs775495786 |
130 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1433754712 CA358042339 |
130 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760945140 CA3063394 |
133 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063395 rs201693852 COSM1050562 |
133 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201693852 CA3063396 |
133 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358042360 rs760945140 |
133 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063397 rs147588341 |
134 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358042383 rs1214442730 |
137 | H>Y | No |
ClinGen TOPMed |
|
|
rs1351577815 CA358042393 |
138 | L>S | No |
ClinGen TOPMed |
|
|
CA358042407 COSM3945931 rs1219237549 |
140 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM3825081 CA358042413 rs1560622898 |
141 | H>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1284555906 CA358042423 |
142 | D>G | No |
ClinGen gnomAD |
|
|
rs1235264331 CA358042444 |
145 | I>N | No |
ClinGen TOPMed |
|
|
CA3063399 rs765363496 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1189205518 CA358042449 |
146 | I>V | No |
ClinGen gnomAD |
|
|
CA3063400 rs200914538 |
147 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3063402 rs185679895 |
148 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3063401 rs185679895 |
148 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755358591 CA3063404 |
153 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3063405 rs777364612 |
154 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358042503 rs1435302717 |
155 | V>M | No |
ClinGen gnomAD |
|
|
CA358042519 rs1307342798 |
157 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs550747951 CA3063409 |
157 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775399844 CA3063411 |
159 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA104730288 rs142017713 |
160 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3063414 rs372318863 |
161 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144214053 CA3063415 |
161 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749136552 CA104730313 |
163 | P>R | No |
ClinGen gnomAD |
|
|
rs1428888947 CA358042554 |
163 | P>S | No |
ClinGen TOPMed |
|
|
CA358042557 rs1560622997 |
164 | D>N | No |
ClinGen Ensembl |
|
|
rs750581096 CA3063417 |
168 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560623008 CA358042596 |
170 | D>N | No |
ClinGen Ensembl |
|
|
rs1578498185 CA358042600 |
170 | D>V | No |
ClinGen Ensembl |
|
|
rs766824187 CA3063419 |
171 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752092031 CA3063420 |
172 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216866129 CA358043562 |
175 | Y>C | No |
ClinGen gnomAD |
|
|
rs372830055 CA3063442 |
175 | Y>H | No |
ClinGen ESP ExAC |
|
|
CA3063443 rs764890891 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1157765989 CA358043578 |
177 | P>T | No |
ClinGen gnomAD |
|
|
CA104733971 rs964996366 |
178 | E>K | No |
ClinGen Ensembl |
|
|
rs1223988384 CA358043607 |
179 | E>A | No |
ClinGen gnomAD |
|
|
CA358043602 rs1200135927 |
179 | E>K | No |
ClinGen TOPMed |
|
|
CA3063445 rs202225797 |
180 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3063446 rs202225797 |
180 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200928513 CA3063447 |
180 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358043628 rs1476578900 |
181 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755032675 CA3063448 |
182 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs986845544 CA104734038 |
184 | P>R | No |
ClinGen TOPMed |
|
|
rs1486977836 CA358043656 |
184 | P>S | No |
ClinGen TOPMed |
|
|
rs769507928 CA3063451 |
185 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763638838 CA104734049 |
186 | S>G | No |
ClinGen TOPMed |
|
|
rs749486388 CA3063453 |
187 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1342899131 CA358043737 CA358043738 |
190 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1290034701 CA358043731 |
190 | M>T | No |
ClinGen gnomAD |
|
|
rs369027863 CA3063454 |
191 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3063455 rs200764818 |
192 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358043751 rs1344279085 |
192 | I>V | No |
ClinGen TOPMed |
|
|
rs560676603 CA104734059 |
193 | C>F | No |
ClinGen gnomAD |
|
|
rs560676603 CA358043766 |
193 | C>Y | No |
ClinGen gnomAD |
|
|
rs1287920008 CA358043813 |
197 | A>T | No |
ClinGen gnomAD |
|
|
CA104734075 rs566555238 |
200 | Q>R | No |
ClinGen gnomAD |
|
|
CA3063476 rs372200089 |
203 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207372316 CA358044093 |
204 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3063477 rs772166496 |
205 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048245247 CA104735532 |
207 | V>A | No |
ClinGen Ensembl |
|
|
CA104735535 rs905668353 |
210 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3063479 rs761096444 |
210 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438156701 CA358044168 |
211 | E>A | No |
ClinGen gnomAD |
|
|
CA3063480 rs778875319 |
212 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776925374 CA3063481 COSM1050564 |
212 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773060051 CA104735543 |
213 | E>G | No |
ClinGen Ensembl |
|
|
rs1386620793 CA358044205 |
214 | E>Q | No |
ClinGen TOPMed |
|
|
rs762663826 CA3063482 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766182811 CA3063483 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751289178 CA3063484 |
216 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063485 rs759050632 |
217 | M>T | No |
ClinGen ExAC |
|
|
rs980289530 CA104735577 |
218 | D>V | No |
ClinGen TOPMed |
|
|
rs766952159 CA3063488 |
220 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA358044344 rs1461212698 |
222 | V>A | No |
ClinGen Ensembl |
|
|
CA3063489 CA358044337 rs752667919 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104735602 rs1035421406 |
224 | A>G | No |
ClinGen Ensembl |
|
|
CA358044383 rs1405230096 |
225 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756076978 CA3063490 |
226 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777595920 CA3063491 |
227 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358044434 rs1560625644 |
227 | K>R | No |
ClinGen Ensembl |
|
|
rs753686265 CA3063492 |
228 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs935979786 CA358044471 |
229 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs935979786 CA104735604 |
229 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3063493 rs762824242 |
229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779063530 CA3063494 |
230 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3063495 rs746091124 |
231 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456768462 CA358044528 |
232 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358044590 rs1171272693 |
235 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1171272693 CA358044579 |
235 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3063497 rs780052763 |
235 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1009897621 CA104735653 |
238 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3063498 rs747544562 |
239 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063499 rs769082818 |
241 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3063501 rs762229142 |
243 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063502 rs770287602 |
246 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA358045374 rs1560626467 |
251 | S>G | No |
ClinGen Ensembl |
|
|
rs1401714755 CA358045378 |
251 | S>N | No |
ClinGen gnomAD |
|
|
CA3063524 rs773780463 |
254 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358045404 rs1245088043 |
255 | G>D | No |
ClinGen gnomAD |
|
|
rs142139266 CA3063525 |
257 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208403818 CA358045418 |
257 | K>N | No |
ClinGen gnomAD |
|
|
rs771674288 CA3063526 |
257 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358045419 rs1578504499 |
258 | V>I | No |
ClinGen Ensembl |
|
|
rs1291746826 CA358045429 |
259 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063527 rs775234698 |
261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063528 rs760066798 |
262 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358045486 rs776490377 |
268 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3063530 rs776490377 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1188576943 CA358045509 |
271 | N>S | No |
ClinGen gnomAD |
|
|
CA3063531 rs370403131 |
272 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370403131 CA104736774 |
272 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941505675 CA104736788 |
273 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358045538 rs1360887208 |
275 | V>A | No |
ClinGen gnomAD |
|
|
CA3063557 rs767676625 |
279 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104737964 rs983426891 |
281 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752875392 CA3063559 |
281 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1027838160 CA104737968 |
283 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1553928834 CA3063560 |
285 | A>V | No |
ClinGen Ensembl |
|
|
CA3063562 rs756287264 |
286 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754378543 CA3063564 |
288 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358045632 rs1297306553 |
288 | I>T | No |
ClinGen TOPMed |
|
|
rs34457380 CA3063563 |
288 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3063565 rs757502637 |
289 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA104737980 rs1035266222 |
292 | R>M | No |
ClinGen TOPMed |
|
|
CA3063566 rs140662020 |
294 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3063567 rs140662020 |
294 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063569 rs780656730 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176517015 CA554180390 |
303 | I>S | No |
ClinGen gnomAD |
|
|
rs990820305 CA104738020 |
303 | I>T | No |
ClinGen TOPMed |
|
|
rs191541170 CA104738009 |
303 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs183848511 CA3063570 |
305 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358045745 rs183848511 |
305 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs916530230 CA104738051 |
306 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA104738061 rs979894679 |
307 | D>V | No |
ClinGen TOPMed |
|
|
rs763006694 CA358045765 |
309 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763006694 CA3063573 |
309 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329757419 CA358045769 |
309 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358045797 rs1372969514 |
313 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1259523527 CA358045800 |
313 | E>D | No |
ClinGen TOPMed |
|
|
CA358045798 rs1372969514 |
313 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3063574 rs770629761 |
315 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774243871 CA358045817 |
316 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774243871 CA3063575 |
316 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767801771 CA3063577 |
318 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3063578 rs753003784 |
319 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA358045850 rs1196945733 |
321 | P>S | No |
ClinGen gnomAD |
|
|
CA358045859 rs1340936154 |
322 | P>L | No |
ClinGen TOPMed |
|
|
COSM253716 CA358045856 rs1416438780 |
322 | P>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3063579 rs199911032 |
324 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3063580 rs764278728 |
325 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772000650 CA3063595 |
327 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs374466564 CA3063596 |
328 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299286422 CA358046063 |
330 | V>G | No |
ClinGen gnomAD |
|
|
rs1019478137 CA104738472 |
330 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM3945932 rs142828776 CA104738474 |
331 | L>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
rs533678536 CA3063599 |
333 | T>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3063601 rs546850964 |
334 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546850964 CA104738498 |
334 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3063603 rs762201983 |
338 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3063604 rs542804602 |
340 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553928922 CA3063605 |
342 | G>A | No |
ClinGen Ensembl |
|
|
rs1358390367 CA358046147 |
344 | E>A | No |
ClinGen gnomAD |
|
|
rs1417587472 CA358046145 |
344 | E>Q | No |
ClinGen gnomAD |
|
|
CA3063608 rs201123592 |
345 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs963357147 CA104738562 |
345 | N>S | No |
ClinGen gnomAD |
|
|
CA3063609 rs752343205 |
346 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA358046174 rs1318652055 |
348 | G>S | No |
ClinGen Ensembl |
|
|
CA3063611 rs777127703 |
349 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748785283 CA3063612 |
350 | L>I | No |
ClinGen ExAC |
|
|
CA3063615 rs778847636 |
353 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3063616 rs745817801 |
355 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771975787 CA3063617 |
357 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3063620 rs768969604 |
361 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3063619 rs148293459 |
361 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA104738629 rs982858939 |
362 | G>D | No |
ClinGen TOPMed |
|
|
rs768578666 CA3063623 |
365 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358046298 rs1459169389 |
366 | I>M | No |
ClinGen TOPMed |
|
|
CA3063624 VAR_051867 rs1803183 |
366 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358046302 rs1198267690 |
367 | I>S | No |
ClinGen TOPMed |
|
|
rs1238954072 CA358046300 |
367 | I>V | No |
ClinGen TOPMed |
|
|
rs1311431640 CA358046308 |
368 | L>F | No |
ClinGen gnomAD |
|
|
rs1351445966 CA358046312 |
369 | D>N | No |
ClinGen gnomAD |
|
|
CA3063626 rs763519680 |
373 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358046344 rs1278715854 |
373 | M>T | No |
ClinGen gnomAD |
|
|
CA358046341 rs763519680 |
373 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1246045089 CA358046369 |
377 | V>I | No |
ClinGen TOPMed |
|
|
rs766699400 CA3063627 |
379 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA358046401 rs1461179849 |
381 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751970914 CA3063628 |
382 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358046403 rs1429713329 |
382 | I>V | No |
ClinGen gnomAD |
|
|
rs1469081566 CA358046409 |
383 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3063674 rs200078687 |
387 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA104740638 rs200078687 |
387 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA104740639 rs954180669 |
388 | P>S | No |
ClinGen Ensembl |
|
|
CA358046968 rs1386693719 |
389 | I>M | No |
ClinGen TOPMed |
|
|
CA3063675 rs368399089 |
390 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158891193 CA358046970 |
390 | I>V | No |
ClinGen TOPMed |
|
|
rs1409545778 CA358046975 |
391 | L>V | No |
ClinGen TOPMed |
|
|
rs985426692 CA104740654 |
392 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358046992 rs1480761173 |
393 | D>E | No |
ClinGen TOPMed |
|
|
rs945957354 CA104740661 |
393 | D>G | No |
ClinGen TOPMed |
|
|
CA3063680 rs769958780 |
395 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3063679 rs748370398 |
395 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358047007 rs1220942967 |
396 | E>* | No |
ClinGen TOPMed |
|
|
rs777991915 CA3063681 |
397 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358047036 COSM3428096 rs1446670291 |
399 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358047047 rs1369991664 |
401 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3063682 rs749324326 |
402 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358047059 rs1162896262 |
403 | E>K | No |
ClinGen gnomAD |
|
|
rs1328878882 CA358047069 |
404 | P>A | No |
ClinGen TOPMed |
|
|
rs1380817225 CA358047072 |
404 | P>L | No |
ClinGen gnomAD |
|
|
rs1156334113 CA358047082 |
406 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1156334113 CA358047081 |
406 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3063685 rs760015473 |
407 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs774778412 CA3063684 |
407 | N>Y | No |
ClinGen ExAC |
|
|
rs1396260636 CA358047096 |
408 | P>S | No |
ClinGen gnomAD |
|
|
CA3063688 rs775761154 |
409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761508544 CA3063689 |
409 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315031764 CA358047116 |
411 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358047150 rs1368783513 |
414 | Q>* | No |
ClinGen TOPMed |
|
|
CA358047152 rs1265029779 |
414 | Q>R | No |
ClinGen gnomAD |
|
|
CA3063707 rs757312369 |
416 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3063708 rs201224124 |
418 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs559300681 CA104741006 |
419 | K>E | No |
ClinGen 1000Genomes |
|
|
rs746359059 CA3063709 |
420 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA358047212 rs1433318867 |
423 | A>S | No |
ClinGen gnomAD |
|
|
rs1200989502 CA358047215 |
423 | A>V | No |
ClinGen gnomAD |
|
|
CA358047227 TCGA novel rs1578510282 |
425 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
VAR_014924 CA3063711 rs1051881 |
425 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA358047254 rs1401555980 |
429 | V>E | No |
ClinGen gnomAD |
|
|
rs747298248 CA3063713 |
431 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1396436877 CA358047273 |
432 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA358047274 rs1396436877 |
432 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769148655 CA358047282 |
433 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA3063715 rs769148655 |
433 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3063718 rs772943583 |
435 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751255089 CA3063719 |
438 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104741059 rs751255089 |
438 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104741064 rs1056211718 |
439 | N>D | No |
ClinGen TOPMed |
|
|
RCV002036218 rs547941906 CA3063721 |
440 | N>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
1 associated diseases with Q06265
[MIM: 618065]: Pontocerebellar hypoplasia 1D (PCH1D)
An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. {ECO:0000269|PubMed:29727687}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. {ECO:0000269|PubMed:29727687}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q06265
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q06265 | |||
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime processive hydrolytic exoribonuclease activity producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime exoribonuclease activity and possibly endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nuclear chromosome | A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
| nuclear exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime processive and distributive hydrolytic exoribonuclease activity and endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| nucleolar exosome (RNase complex) | A ribonuclease complex that has 3-prime to 5-prime distributive hydrolytic exoribonuclease activity and in some taxa (e.g. yeast) endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| mRNA 3'-UTR AU-rich region binding | Binding to a region containing frequent adenine and uridine bases within the 3' untranslated region of a mRNA molecule or in pre-mRNA intron. The ARE-binding element consensus is UUAUUUAUU. ARE-binding proteins control the stability and/or translation of mRNAs. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| exonucleolytic catabolism of deadenylated mRNA | The chemical reactions and pathways resulting in the breakdown of the transcript body of a nuclear-transcribed mRNA that occurs when the ends are not protected by the 3'-poly(A) tail. |
| exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Exonucleolytic digestion of a pre-rRNA molecule to generate the mature 3'-end of a 5.8S rRNA molecule derived from an originally tricistronic pre-rRNA transcript that contained the Small Subunit (SSU) rRNA, the 5.8S rRNA, and the Large Subunit (LSU) rRNA in that order from 5' to 3' along the primary transcript. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| nuclear mRNA surveillance | A process that identifies and degrades defective or aberrant mRNAs within the nucleus. |
| nuclear polyadenylation-dependent mRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a messenger RNA (mRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target mRNA. |
| nuclear polyadenylation-dependent rRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a ribosomal RNA (rRNA) molecule, including RNA fragments released as part of processing the primary transcript into multiple mature rRNA species, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA. |
| nuclear polyadenylation-dependent tRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of an aberrant or incorrectly modified transfer RNA (tRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target tRNA. |
| nuclear-transcribed mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of nuclear-transcribed mRNAs in eukaryotic cells. |
| nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' | The chemical reactions and pathways resulting in the breakdown of the mRNA transcript body that occurs when the 3' end is not protected by a 3'-poly(A) tail; degradation proceeds in the 3' to 5' direction. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| 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. |
| RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
| rRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of rRNA, ribosomal RNA, a structural constituent of ribosomes. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| U1 snRNA 3'-end processing | Any process involved in forming the mature 3' end of a U1 snRNA molecule. |
| U4 snRNA 3'-end processing | Any process involved in forming the mature 3' end of a U4 snRNA molecule. |
| U5 snRNA 3'-end processing | Any process involved in forming the mature 3' end of a U5 snRNA molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKETPLSNCE | RRFLLRAIEE | KKRLDGRQTY | DYRNIRISFG | TDYGCCIVEL | GKTRVLGQVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CELVSPKLNR | ATEGILFFNL | ELSQMAAPAF | EPGRQSDLLV | KLNRLMERCL | RNSKCIDTES |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LCVVAGEKVW | QIRVDLHLLN | HDGNIIDAAS | IAAIVALCHF | RRPDVSVQGD | EVTLYTPEER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPVPLSIHHM | PICVSFAFFQ | QGTYLLVDPN | EREERVMDGL | LVIAMNKHRE | ICTIQSSGGI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLLKDQVLRC | SKIAGVKVAE | ITELILKALE | NDQKVRKEGG | KFGFAESIAN | QRITAFKMEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APIDTSDVEE | KAEEIIAEAE | PPSEVVSTPV | LWTPGTAQIG | EGVENSWGDL | EDSEKEDDEG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGDQAIILDG | IKMDTGVEVS | DIGSQDAPII | LSDSEEEEMI | ILEPDKNPKK | IRTQTTSAKQ |
| 430 | |||||
| EKAPSKKPVK | RRKKKRAAN |