Q9NQT5
PR
Gene name |
EXOSC3 (RRP40, CGI-102) |
Protein name |
Exosome complex component RRP40 |
Names |
Exosome component 3, Ribosomal RNA-processing protein 40, p10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51010 |
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 Q9NQT5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2NN6 | X-ray | 335 A | G | 1-275 | PDB |
| 6D6Q | EM | 345 A | G | 1-275 | PDB |
| 6D6R | EM | 345 A | G | 1-275 | PDB |
| 6H25 | EM | 380 A | G | 1-275 | PDB |
| AF-Q9NQT5-F1 | Predicted | AlphaFoldDB |
288 variants for Q9NQT5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001165974 CA5062882 rs549030188 RCV000658406 |
5 | A>S | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs758230758 RCV001204382 CA373476171 RCV002561156 |
13 | A>P | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5062870 RCV001165973 rs758230758 |
13 | A>T | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000923637 rs147135294 RCV002542175 CA5062864 |
18 | R>C | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000923636 CA5062863 rs145677716 RCV002541008 |
18 | R>P | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA342800 rs387907196 RCV000024369 RCV001092265 RCV000853550 VAR_068505 |
31 | G>A | Fetal akinesia deformation sequence 1 Pontocerebellar hypoplasia type 1B PCH1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000117004 rs587780333 |
38 | E>missing | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001168861 RCV000877718 rs114878910 CA5062847 |
51 | R>G | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000314149 RCV002509341 rs886041316 RCV000499694 |
52 | P>missing | Pontocerebellar hypoplasia type 1B Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000418914 RCV002523792 CA5062844 rs148348866 RCV000874627 |
56 | N>H | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs62640002 RCV000192646 RCV000865460 CA205604 RCV001545046 |
65 | V>I | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA345539 RCV000825519 RCV000117005 RCV001200535 VAR_074169 rs374550999 |
80 | V>F | Pontocerebellar hypoplasia type 1B Pontoneocerebellar hypoplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000024368 rs672601331 |
99 | V>missing | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699890 RCV000193472 rs138169215 CA206987 |
110 | V>I | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5062774 rs145622193 RCV001043581 |
121 | V>M | Pontocerebellar hypoplasia type 1B Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000024366 RCV000190687 RCV001836713 RCV000761614 rs141138948 VAR_068506 RCV000224817 RCV003156064 CA204654 |
132 | D>A | Pontocerebellar hypoplasia type 1B Inborn genetic diseases PCH1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001064055 rs1828647523 |
135 | G>R | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000024367 VAR_068507 CA260045 rs387907195 |
139 | A>P | Pontocerebellar hypoplasia type 1B PCH1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001298964 rs145464176 CA5062759 RCV002541877 |
150 | T>A | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000161917 CA273761 rs730882145 |
191 | G>C | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs797045567 RCV000625808 CA205371 RCV000192511 |
191 | G>D | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1160669103 RCV002499349 RCV000729415 |
208 | R>N* | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs3208406 VAR_054098 RCV000261175 CA152804 RCV000117007 COSM3763940 |
225 | Y>H | Pontocerebellar hypoplasia type 1B large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5062677 rs140199968 RCV001168094 |
237 | I>L | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA260047 RCV000024370 VAR_068508 rs672601332 |
238 | W>R | Pontocerebellar hypoplasia type 1B PCH1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000873613 RCV001697797 CA5062671 rs62640004 |
253 | I>V | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs565320740 CA5062668 RCV000692228 |
261 | T>M | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002535481 CA5062666 RCV000818706 rs767942736 |
262 | S>L | Pontocerebellar hypoplasia type 1B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1828567719 RCV001246208 |
274 | E>missing | Pontocerebellar hypoplasia type 1B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1325914775 RCV001200536 |
1 | M>T | No |
ClinVar dbSNP |
|
|
CA373476222 rs754046728 |
2 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754046728 CA5062895 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373476223 rs1316402133 |
2 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5062896 rs754046728 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373476216 rs754877763 |
3 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565950496 CA5062891 |
3 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751582737 CA192954225 |
4 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062888 rs372128042 |
4 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372128042 CA5062887 |
4 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5062886 rs372128042 |
4 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751582737 CA5062889 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062883 rs549030188 |
5 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5062884 rs549030188 |
5 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769554336 CA5062881 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771263198 CA5062879 |
6 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs749691951 CA373476208 |
6 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062878 rs749691951 |
6 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062877 rs777930611 |
7 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA373476198 rs1462941939 |
8 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1290396912 CA373476202 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1244869312 CA373476191 |
9 | A>G | No |
ClinGen TOPMed |
|
|
CA373476184 rs1268653989 |
10 | E>D | No |
ClinGen gnomAD |
|
|
CA373476189 rs1191492203 |
10 | E>Q | No |
ClinGen TOPMed |
|
|
rs1432919701 CA373476182 |
11 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373476173 rs1447275667 |
12 | L>P | No |
ClinGen TOPMed |
|
|
rs1056166517 CA192954179 |
12 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750268758 CA5062869 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5062868 rs764928491 |
14 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373476157 rs1348603622 |
15 | S>I | No |
ClinGen TOPMed |
|
|
CA5062866 rs776409249 |
16 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369075932 CA5062865 |
17 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373476146 rs1365011483 |
17 | A>S | No |
ClinGen TOPMed |
|
|
rs369075932 CA373476144 |
17 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA915947453 rs1589061488 |
18 | R>S | No |
ClinGen Ensembl |
|
|
CA192954132 rs748428324 |
19 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA192954126 rs909422654 |
20 | A>P | No |
ClinGen TOPMed |
|
|
CA192954123 rs983715030 |
21 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 21 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771457344 CA5062862 |
21 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270605620 CA373476112 |
24 | L>V | No |
ClinGen gnomAD |
|
|
CA373476101 rs1179552896 |
26 | Q>E | No |
ClinGen TOPMed |
|
|
rs1220738136 CA373476098 |
26 | Q>R | No |
ClinGen gnomAD |
|
|
rs1057518124 CA16042791 RCV000414156 |
27 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs770262381 CA5062859 |
27 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062858 rs140159471 |
28 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543643932 CA5062856 |
30 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192954080 rs941644711 |
32 | E>* | No |
ClinGen Ensembl |
|
|
rs1441882835 CA373476056 |
33 | E>D | No |
ClinGen gnomAD |
|
|
rs750172761 CA5062853 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1427979807 CA373476031 |
38 | E>* | No |
ClinGen gnomAD |
|
|
rs1481141170 CA373476025 |
39 | Q>K | No |
ClinGen gnomAD |
|
|
CA192954065 rs372713035 |
40 | E>K | No |
ClinGen Ensembl |
|
|
rs1254898809 CA373476009 |
41 | D>N | No |
ClinGen Ensembl |
|
|
rs1282495625 CA373476005 |
41 | D>V | No |
ClinGen TOPMed |
|
|
rs1468382405 CA373475985 |
44 | G>D | No |
ClinGen gnomAD |
|
|
rs757129344 CA5062850 |
45 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373475974 rs1325254462 COSM3699693 |
46 | G>E | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA373475976 rs1228791845 |
46 | G>R | No |
ClinGen TOPMed |
|
|
rs1262765477 CA373475967 |
47 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1262765477 CA373475966 |
47 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373475965 rs1201798021 |
48 | A>T | No |
ClinGen gnomAD |
|
|
CA373475959 rs1327033367 |
49 | V>M | No |
ClinGen TOPMed |
|
|
CA5062848 rs564844297 |
50 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA192954049 rs114878910 |
51 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5062846 rs766811932 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766811932 CA5062845 |
52 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA192954044 rs766811932 |
52 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404830651 CA373475926 |
54 | S>R | No |
ClinGen gnomAD |
|
|
CA5062843 rs773767698 |
57 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA373475908 rs1359281369 |
58 | R>G | No |
ClinGen gnomAD |
|
|
rs1158260197 CA373475903 |
58 | R>S | No |
ClinGen gnomAD |
|
|
CA192954030 rs371853233 |
59 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5062842 rs371853233 |
59 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762278752 CA5062841 |
60 | C>G | No |
ClinGen ExAC |
|
|
CA5062839 rs768949188 |
62 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5062840 rs776681485 |
62 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896170471 CA373475874 |
64 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA192954013 rs896170471 |
64 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5062838 rs747030782 |
64 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1315579598 CA373475868 |
65 | V>A | No |
ClinGen gnomAD |
|
|
rs62640002 CA373475871 |
65 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1004124500 CA373475853 |
67 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5062835 rs573816850 |
68 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745785017 CA5062836 |
68 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5062837 rs745785017 |
68 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5062834 rs756970445 |
69 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753698044 CA5062833 |
69 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA373475848 rs756970445 |
69 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755802507 CA5062831 |
71 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755802507 CA192953972 |
71 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159210845 CA373475833 |
72 | R>P | No |
ClinGen gnomAD |
|
|
CA5062829 rs767003713 |
72 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5062828 rs759096213 |
73 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759096213 CA373475827 |
73 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192953951 rs995146188 |
75 | G>V | No |
ClinGen gnomAD |
|
|
rs1185942470 CA373475803 |
77 | R>C | No |
ClinGen gnomAD |
|
|
CA373475800 rs1471728821 |
77 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373475801 rs1471728821 |
77 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1344111983 CA373475796 |
78 | L>Q | No |
ClinGen TOPMed |
|
|
rs929560365 CA192953916 |
80 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000490031 CA373475788 rs374550999 |
80 | V>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA373475773 CA192953914 rs923278307 |
82 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5062820 rs772252048 |
83 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745981409 CA5062819 |
84 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5062817 rs770922813 |
85 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs748976233 CA5062816 |
87 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA373475749 rs1404319370 |
87 | R>S | No |
ClinGen gnomAD |
|
|
CA5062815 rs777626686 |
88 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA373475735 rs1369223693 |
89 | K>* | No |
ClinGen gnomAD |
|
|
CA5062814 rs537289113 RCV000494128 |
91 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1425936665 CA373475716 |
92 | G>S | No |
ClinGen gnomAD |
|
|
rs754445527 CA5062811 |
95 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA373475683 rs1211945934 |
97 | G>S | No |
ClinGen gnomAD |
|
|
rs765608479 CA5062809 |
98 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA373475677 rs1250379270 |
98 | G>S | No |
ClinGen gnomAD |
|
|
rs757789978 CA5062806 |
99 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs371885660 CA5062805 |
100 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373475649 rs1222374498 |
102 | V>L | No |
ClinGen gnomAD |
|
|
CA373475643 rs1343499660 |
103 | D>N | No |
ClinGen gnomAD |
|
|
rs764503826 CA5062804 |
104 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1387099040 CA373475632 |
105 | Q>K | No |
ClinGen gnomAD |
|
|
CA373475612 rs1589061236 |
107 | K>R | No |
ClinGen Ensembl |
|
|
rs201178873 CA5062803 |
108 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373475571 rs1182643567 |
112 | V>G | No |
ClinGen gnomAD |
|
|
rs766461372 CA5062775 |
112 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5062776 rs766461372 |
112 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1214027410 CA373475558 |
114 | G>E | No |
ClinGen TOPMed |
|
|
CA192953466 rs999232158 |
116 | H>R | No |
ClinGen Ensembl |
|
|
CA373475545 rs1200963997 |
116 | H>Y | No |
ClinGen gnomAD |
|
|
CA373475516 rs1410373685 |
120 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs145622193 CA373475514 |
121 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241989144 CA373475504 |
122 | T>I | No |
ClinGen gnomAD |
|
|
CA373475487 rs1160115043 |
125 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354190393 CA373475479 |
126 | G>A | No |
ClinGen gnomAD |
|
|
rs1354190393 CA373475478 |
126 | G>V | No |
ClinGen gnomAD |
|
|
rs769746459 CA5062772 |
127 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA192953460 rs903357748 |
128 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373475468 rs1472202256 |
128 | I>V | No |
ClinGen TOPMed |
|
|
rs373193552 CA373475456 |
130 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373193552 CA5062770 |
130 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA192953447 rs1044124443 |
131 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA192953450 rs751936620 |
131 | V>I | No |
ClinGen Ensembl |
|
|
CA373475443 rs141138948 |
132 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5062769 rs768507877 |
132 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779619010 CA5062768 |
134 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373475425 rs1471646898 |
135 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1346042479 CA373475420 |
136 | S>C | No |
ClinGen TOPMed |
|
|
rs1187569437 CA373475404 |
138 | P>S | No |
ClinGen gnomAD |
|
|
rs778372165 CA5062766 |
140 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062765 rs778372165 |
140 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062764 rs756702077 |
141 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA192953425 rs573975449 |
141 | L>V | No |
ClinGen gnomAD |
|
|
CA373475374 rs781685540 |
143 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5062763 rs753042657 |
143 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5062760 rs751776878 |
145 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA373475335 rs1444958317 |
149 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373475334 rs1444958317 |
149 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1403967376 CA373475329 |
150 | T>I | No |
ClinGen gnomAD |
|
|
rs1207346119 CA373475293 |
155 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000498825 rs1247129345 CA373475255 |
159 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA192952640 rs989966117 |
159 | V>F | No |
ClinGen Ensembl |
|
|
rs1457432634 CA373475240 |
161 | D>E | No |
ClinGen gnomAD |
|
|
CA373475247 rs1589059838 |
161 | D>N | No |
ClinGen Ensembl |
|
|
rs1256419561 CA373475237 |
162 | L>F | No |
ClinGen gnomAD |
|
|
CA373475222 rs1200553521 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
CA373475210 rs1185438064 |
166 | Q>* | No |
ClinGen gnomAD |
|
|
CA5062740 rs750712880 |
166 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243330357 CA373475193 |
168 | V>A | No |
ClinGen gnomAD |
|
|
CA373475184 rs1370173911 |
170 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 170 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5062738 rs141077639 |
171 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA373475166 rs1589059813 |
172 | K>N | No |
ClinGen Ensembl |
|
|
CA5062737 rs753739586 |
173 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055276932 CA192952622 |
174 | M>I | No |
ClinGen TOPMed |
|
|
rs763964643 CA5062736 |
174 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415869854 CA373475156 |
174 | M>V | No |
ClinGen TOPMed |
|
|
rs760466382 CA5062735 |
178 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373475128 rs1332988248 |
178 | M>V | No |
ClinGen gnomAD |
|
|
rs980603915 CA192952612 |
180 | C>Y | No |
ClinGen Ensembl |
|
|
rs1416171613 CA373475086 |
183 | S>R | No |
ClinGen gnomAD |
|
|
rs1425793444 CA373475083 |
184 | C>G | No |
ClinGen gnomAD |
|
|
CA5062733 rs771687142 |
184 | C>W | No |
ClinGen ExAC |
|
|
rs149049356 CA5062731 |
186 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5062730 rs149049356 |
186 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5062729 rs748839685 |
186 | R>Q | No |
ClinGen ExAC |
|
|
rs777230686 CA5062728 |
187 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5062727 rs371980686 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749461063 CA192952584 |
190 | M>V | No |
ClinGen Ensembl |
|
|
CA5062726 rs730882145 |
191 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA192952556 rs940040665 |
197 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs377071301 CA192952562 |
197 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA5062719 rs764031129 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752745392 CA5062717 |
199 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373474983 rs1359623071 |
201 | K>E | No |
ClinGen gnomAD |
|
|
CA373474963 rs1228573588 |
204 | L>V | No |
ClinGen TOPMed |
|
|
rs1282917090 CA373474952 |
205 | G>V | No |
ClinGen TOPMed |
|
|
CA5062715 rs759452295 |
208 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1160669103 CA587827893 |
208 | R>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1366126599 CA373474906 |
210 | L>P | No |
ClinGen gnomAD |
|
|
CA5062690 rs766063373 |
213 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192952219 rs931855358 |
215 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 216 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199651233 CA5062687 |
217 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5062686 rs761430695 |
220 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1464153985 CA373474821 |
221 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373474807 rs1589058991 |
223 | K>N | No |
ClinGen Ensembl |
|
|
CA373474804 rs1184277842 |
224 | L>I | No |
ClinGen TOPMed |
|
|
rs546917405 CA5062685 |
225 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA373474792 rs1564013680 |
226 | P>T | No |
ClinGen Ensembl |
|
|
CA373474784 rs1488568596 |
227 | L>P | No |
ClinGen gnomAD |
|
|
rs955554007 CA192952209 |
228 | E>D | No |
ClinGen TOPMed |
|
|
CA5062680 rs530072674 |
229 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373474772 rs1257053779 |
229 | I>T | No |
ClinGen gnomAD |
|
|
rs1030215578 CA192952207 |
229 | I>V | No |
ClinGen TOPMed |
|
|
rs1360536749 CA373474761 |
231 | F>S | No |
ClinGen TOPMed |
|
|
CA5062679 rs374094769 |
231 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232515479 CA373474731 |
235 | G>E | No |
ClinGen gnomAD |
|
|
CA373474733 rs1258608435 |
235 | G>R | No |
ClinGen gnomAD |
|
|
CA373474728 rs1330065411 |
236 | R>G | No |
ClinGen TOPMed |
|
|
CA192952201 rs370386041 |
237 | I>M | No |
ClinGen ESP TOPMed |
|
|
rs1303049269 CA373474720 |
237 | I>T | No |
ClinGen gnomAD |
|
|
CA5062678 rs140199968 |
237 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs944335096 CA192952198 |
238 | W>C | No |
ClinGen gnomAD |
|
|
CA373474709 rs1202043884 |
239 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5062676 rs748282500 |
242 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5062674 rs754973221 COSM1187724 |
247 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA373474647 rs561283125 |
248 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561283125 CA5062673 |
248 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309761842 CA373474626 |
251 | A>G | No |
ClinGen gnomAD |
|
|
CA5062672 rs139360012 |
251 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5062670 rs750016815 |
255 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178620238 CA373474599 |
255 | E>A | No |
ClinGen gnomAD |
|
|
rs1477698046 CA373474586 |
257 | C>Y | No |
ClinGen TOPMed |
|
|
rs764975416 CA5062669 |
260 | M>V | No |
ClinGen ExAC |
|
|
rs565320740 CA373474554 |
261 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5062664 rs139911906 |
263 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373474543 rs1199391491 |
263 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA192952182 rs139911906 |
263 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192952178 rs1023854547 |
266 | K>R | No |
ClinGen gnomAD |
|
|
CA5062663 rs771261237 |
267 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA373474516 rs1233655344 |
267 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5062662 rs763414837 |
268 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA373474511 rs1331509367 |
268 | I>N | No |
ClinGen TOPMed |
|
|
rs1331509367 CA373474509 |
268 | I>S | No |
ClinGen TOPMed |
|
|
CA373474513 rs763414837 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs765457042 | 269 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373474495 rs1436438347 |
270 | S>F | No |
ClinGen TOPMed |
|
|
rs770068408 CA5062660 |
270 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1400638312 CA373474483 |
272 | L>W | No |
ClinGen gnomAD |
|
|
rs768917662 CA5062653 |
273 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA373474480 rs1305148497 |
273 | A>T | No |
ClinGen gnomAD |
|
|
rs746924619 CA5062652 |
276 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380136553 CA373474459 |
276 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | S>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9NQT5
No regional properties for Q9NQT5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NQT5 | |||
10 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. |
| euchromatin | A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. |
| 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. |
| 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. |
2 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. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| CUT catabolic process | The chemical reactions and pathways resulting in the breakdown of cryptic unstable transcripts (CUTs). |
| DNA deamination | The removal of an amino group from a nucleotide base in DNA. An example is the deamination of cytosine to produce uracil. |
| 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. |
| isotype switching | The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
| 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, 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. |
| polyadenylation-dependent snoRNA 3'-end processing | Any process involved in forming the mature 3' end of a snoRNA molecule linked to prior polyadenylation of the 3'-end of the precursor snoRNA. |
| positive regulation of isotype switching | Any process that activates or increases the frequency, rate or extent of isotype switching. |
| 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 processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| U4 snRNA 3'-end processing | Any process involved in forming the mature 3' end of a U4 snRNA molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEPASVAAE | SLAGSRARAA | RTVLGQVVLP | GEELLLPEQE | DAEGPGGAVE | RPLSLNARAC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRVRVVCGPG | LRRCGDRLLV | TKCGRLRHKE | PGSGSGGGVY | WVDSQQKRYV | PVKGDHVIGI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTAKSGDIFK | VDVGGSEPAS | LSYLSFEGAT | KRNRPNVQVG | DLIYGQFVVA | NKDMEPEMVC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDSCGRANGM | GVIGQDGLLF | KVTLGLIRKL | LAPDCEIIQE | VGKLYPLEIV | FGMNGRIWVK |
| 250 | 260 | 270 | |||
| AKTIQQTLIL | ANILEACEHM | TSDQRKQIFS | RLAES |