Q9UMY1
Gene name |
NOL7 (C6orf90, NOP27) |
Protein name |
Nucleolar protein 7 |
Names |
Nucleolar protein of 27 kDa |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51406 |
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
4 structures for Q9UMY1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | ND | 1-257 | PDB |
| 7MQ9 | EM | 387 A | ND | 1-257 | PDB |
| 7MQA | EM | 270 A | ND | 1-257 | PDB |
| AF-Q9UMY1-F1 | Predicted | AlphaFoldDB |
241 variants for Q9UMY1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3640694 rs201177610 CA362778902 |
3 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs1044328201 CA134827865 |
4 | L>P | No |
ClinGen Ensembl |
|
|
rs1488809193 CA362778947 |
5 | R>L | No |
ClinGen gnomAD |
|
|
CA362778950 rs994713089 |
6 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3640695 rs770549608 |
6 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362778954 rs770549608 |
6 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362778956 rs770549608 |
6 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362778952 rs994713089 |
6 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA134827909 rs994713089 |
6 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA134827925 rs1026394258 |
7 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362778963 rs1026394258 |
7 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362778968 rs886550846 |
7 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886550846 CA134827929 |
7 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs886550846 CA362778965 |
7 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3640698 rs767023705 |
8 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640697 rs767023705 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362778996 rs767023705 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775412864 CA362779006 |
9 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362779012 rs1457923211 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs775412864 CA3640699 |
9 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640700 rs762794506 |
10 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297149653 CA362779016 |
10 | R>S | No |
ClinGen gnomAD |
|
|
CA362779044 rs1355156743 |
12 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362779043 rs1355156743 |
12 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1289361298 CA362779035 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs1289361298 CA362779037 |
12 | P>T | No |
ClinGen gnomAD |
|
|
CA134827976 rs768750065 |
13 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768750065 CA3640701 |
13 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022508478 CA134827982 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA362779069 rs1203885248 |
14 | S>L | No |
ClinGen gnomAD |
|
|
rs1481739173 CA362779076 |
15 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1162944957 CA362779073 |
15 | A>T | No |
ClinGen TOPMed |
|
|
CA362779078 rs1481739173 |
15 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362779087 rs1475273992 |
16 | E>G | No |
ClinGen TOPMed |
|
|
CA362779099 rs1185574516 |
17 | A>E | No |
ClinGen gnomAD |
|
|
CA362779095 rs1474721508 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1218545809 CA362779109 |
18 | M>V | No |
ClinGen TOPMed |
|
|
CA134827988 rs576016625 |
19 | V>G | No |
ClinGen 1000Genomes |
|
|
rs1169125343 CA362779132 |
20 | D>G | No |
ClinGen gnomAD |
|
|
CA362779129 rs1405918554 |
20 | D>N | No |
ClinGen gnomAD |
|
|
CA362779142 rs1457258929 |
21 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362779165 rs1352320101 |
23 | Q>* | No |
ClinGen gnomAD |
|
|
rs1463079470 CA362779169 |
23 | Q>H | No |
ClinGen gnomAD |
|
|
CA362779182 rs1584896686 |
24 | L>P | No |
ClinGen Ensembl |
|
|
CA362779232 rs1380491201 |
28 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1295552540 CA362779229 |
28 | E>G | No |
ClinGen gnomAD |
|
|
rs968187122 CA134827999 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3640704 rs760671762 |
29 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362779238 rs1361003048 |
29 | E>K | No |
ClinGen TOPMed |
|
|
rs993951658 CA134828005 |
30 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205968388 CA362779272 |
31 | A>G | No |
ClinGen gnomAD |
|
|
rs1484840188 CA362779292 |
33 | H>Y | No |
ClinGen gnomAD |
|
|
rs1208417988 CA362779318 |
34 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1351728705 CA362779347 |
37 | L>I | No |
ClinGen TOPMed |
|
|
CA362779361 rs1417300610 |
38 | G>R | No |
ClinGen gnomAD |
|
|
rs1420512904 CA362779372 |
39 | Q>* | No |
ClinGen TOPMed |
|
|
CA362779407 rs1168699257 |
42 | S>R | No |
ClinGen gnomAD |
|
|
CA362779431 rs1394079601 |
43 | G>D | No |
ClinGen gnomAD |
|
|
CA134828064 rs1007099608 |
44 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1294465328 CA362779440 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA362779483 rs1360167896 CA362779485 |
47 | E>D | No |
ClinGen gnomAD |
|
|
CA362779492 rs1584896836 |
48 | P>L | No |
ClinGen Ensembl |
|
|
rs1430482796 CA362779502 |
49 | L>R | No |
ClinGen gnomAD |
|
|
CA134828100 rs956006981 |
50 | E>V | No |
ClinGen Ensembl |
|
|
rs1018202144 CA362779516 |
51 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3640708 rs545142311 COSM4160208 |
51 | E>D | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1364742796 CA362779522 |
51 | E>G | No |
ClinGen gnomAD |
|
|
rs1018202144 CA134828109 |
51 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362779538 rs1302814880 |
52 | D>E | No |
ClinGen gnomAD |
|
|
rs1345984232 CA362779543 |
53 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs957490832 CA134828116 |
55 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs990063143 CA134828117 |
56 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273275647 CA362779591 |
57 | D>V | No |
ClinGen TOPMed |
|
|
rs1240233578 CA362779701 |
62 | E>G | No |
ClinGen gnomAD |
|
|
rs754300779 CA3640711 |
63 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188609350 CA362779729 |
63 | A>V | No |
ClinGen gnomAD |
|
|
rs1394024144 CA362779765 |
65 | E>A | No |
ClinGen gnomAD |
|
|
CA362779759 rs1394024144 |
65 | E>V | No |
ClinGen gnomAD |
|
|
rs755408516 CA3640712 |
66 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA134828145 rs868034949 |
67 | L>M | No |
ClinGen Ensembl |
|
|
rs1351423263 CA362779813 |
68 | T>A | No |
ClinGen Ensembl |
|
|
rs1157409370 CA362779820 |
68 | T>I | No |
ClinGen gnomAD |
|
|
CA362779818 rs1157409370 |
68 | T>S | No |
ClinGen gnomAD |
|
|
rs11540715 CA362779837 |
69 | F>C | No |
ClinGen gnomAD |
|
|
rs765783930 CA3640714 |
69 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA134828161 rs11540715 |
69 | F>S | No |
ClinGen gnomAD |
|
|
rs1296468325 CA362779855 |
70 | A>S | No |
ClinGen TOPMed |
|
|
CA362779865 rs1584896965 |
71 | S>G | No |
ClinGen Ensembl |
|
|
CA3640715 rs753226474 |
74 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275618928 CA362779942 |
75 | E>* | No |
ClinGen gnomAD |
|
|
CA134828179 rs991367715 |
76 | A>V | No |
ClinGen TOPMed |
|
|
rs948415593 CA134828197 |
78 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3640717 rs780691592 |
79 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA362780014 rs1331127283 |
80 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362780025 rs1177775290 |
81 | R>W | No |
ClinGen TOPMed |
|
|
rs745492028 CA3640718 |
83 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362780050 rs1249045732 |
84 | R>Q | No |
ClinGen TOPMed |
|
|
CA362780066 rs1466701761 |
85 | E>D | No |
ClinGen gnomAD |
|
|
rs1232557604 CA362780057 |
85 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371984716 CA3640722 |
88 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540079238 CA3640723 |
88 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362780119 rs1164750601 |
89 | R>G | No |
ClinGen gnomAD |
|
|
CA3640750 rs770128633 |
90 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640751 rs770128633 |
90 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362780299 rs1243885782 |
91 | K>N | No |
ClinGen TOPMed |
|
|
rs1474446328 CA362780311 |
92 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1474446328 CA362780313 |
92 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1474446328 CA362780312 |
92 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1391000206 CA362780318 |
93 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3640752 rs143073366 |
94 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3640754 rs752025456 |
97 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640753 rs764711363 |
97 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640755 rs760188337 |
98 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs753481615 CA3640757 |
102 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1584897365 TCGA novel CA362780511 |
106 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA362780545 rs1225512956 |
108 | Q>P | No |
ClinGen gnomAD |
|
|
CA362780555 rs1425306149 |
109 | K>* | No |
ClinGen TOPMed |
|
|
rs745993107 CA3640787 |
111 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362780689 rs1584898404 |
112 | K>N | No |
ClinGen Ensembl |
|
|
CA134829213 rs370016680 |
113 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs150690716 CA3640790 |
115 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389328737 CA362780725 |
116 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772497148 CA3640794 |
117 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs776260445 CA3640795 |
118 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747839400 CA134829246 |
120 | E>G | No |
ClinGen Ensembl |
|
|
rs1306725625 CA362780820 |
124 | T>I | No |
ClinGen gnomAD |
|
|
rs995716706 CA134829249 |
125 | A>V | No |
ClinGen Ensembl |
|
|
rs759067282 CA3640796 |
126 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs945259082 CA134836098 |
130 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 131 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563589049 CA3640838 |
131 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280597947 CA362781281 |
132 | K>I | No |
ClinGen TOPMed |
|
|
CA3640840 rs750301041 |
133 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640839 rs750301041 |
133 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 136 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3640843 rs371855659 |
138 | K>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 140 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3640844 rs778953813 |
140 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA362781409 rs759155299 |
142 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362781412 rs1186592806 |
142 | L>F | No |
ClinGen TOPMed |
|
|
rs759155299 CA134836426 |
142 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1248871558 CA362781433 |
145 | K>R | No |
ClinGen gnomAD |
|
|
rs1192749675 CA362781438 |
146 | N>D | No |
ClinGen TOPMed |
|
|
rs755873110 CA3640873 |
149 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046742673 CA362781464 |
149 | C>F | No |
ClinGen gnomAD |
|
|
rs746387374 CA3640874 |
149 | C>G | No |
ClinGen ExAC |
|
|
CA134836442 rs1046742673 |
149 | C>S | No |
ClinGen gnomAD |
|
|
CA134836444 rs781692387 |
150 | E>K | No |
ClinGen TOPMed |
|
|
rs1196736737 CA362781497 |
154 | D>H | No |
ClinGen TOPMed |
|
|
CA362781506 rs1449506663 |
155 | S>P | No |
ClinGen gnomAD |
|
|
CA362781511 rs1273720527 |
156 | K>* | No |
ClinGen TOPMed |
|
|
CA3640878 rs747793701 |
156 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640879 rs771749772 |
158 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771749772 CA3640880 |
158 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372106357 CA3640881 |
159 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362781535 rs1160004650 |
159 | K>N | No |
ClinGen gnomAD |
|
|
rs776365553 CA134836495 |
161 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776365553 CA3640883 |
161 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1329742623 CA819406588 |
161 | Q>L* | No |
ClinGen TOPMed |
|
|
rs759536441 CA3640884 |
161 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640885 rs765222106 |
163 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392843763 CA362781581 |
167 | S>G | No |
ClinGen TOPMed |
|
|
CA134839260 rs915399267 |
168 | Q>* | No |
ClinGen TOPMed |
|
|
CA362781835 rs1271394992 |
170 | K>R | No |
ClinGen TOPMed |
|
|
CA3640913 rs750837924 |
171 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA362781883 rs1170653180 |
172 | Y>* | No |
ClinGen gnomAD |
|
|
rs1341817505 CA362781876 |
172 | Y>D | No |
ClinGen TOPMed |
|
|
CA134839326 rs143778341 |
175 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3640915 rs143778341 |
175 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs766861896 CA3640916 |
178 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362781995 rs1399968605 |
179 | D>G | No |
ClinGen gnomAD |
|
|
CA3640919 COSM1545304 rs146992026 |
183 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs146992026 CA362782040 |
183 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362782060 rs1363755615 |
184 | D>E | No |
ClinGen gnomAD |
|
|
rs1054895185 CA134839356 |
185 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777278711 CA3640920 |
186 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370712203 CA362782091 |
188 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3640921 rs370712203 |
188 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362782124 rs1562291465 |
190 | A>V | No |
ClinGen Ensembl |
|
|
CA3640922 rs374410374 |
192 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780821261 CA3640923 |
194 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3640925 rs769503951 |
195 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138029598 CA3640924 |
195 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207112386 CA362782249 |
199 | Y>C | No |
ClinGen TOPMed |
|
|
rs768839852 CA3640928 |
200 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA134839448 rs186388999 |
201 | P>Q | No |
ClinGen 1000Genomes |
|
|
rs1029545504 CA134839437 |
201 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1323535692 CA362782274 |
202 | G>R | No |
ClinGen TOPMed |
|
|
CA362782290 rs1284676461 |
203 | T>N | No |
ClinGen TOPMed |
|
|
rs1349541983 CA362782306 |
204 | N>K | No |
ClinGen TOPMed |
|
|
CA3640929 rs139715216 |
204 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362782338 rs1333354894 |
207 | T>A | No |
ClinGen TOPMed |
|
|
rs1392467658 CA362782406 |
209 | N>S | No |
ClinGen gnomAD |
|
|
rs768754075 CA3640951 |
210 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1408259402 CA362782484 |
213 | S>F | No |
ClinGen TOPMed |
|
|
CA3640952 rs779111944 |
213 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1311589 rs748208703 CA3640953 |
214 | L>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA134839656 rs930738568 |
216 | N>K | No |
ClinGen gnomAD |
|
|
rs376188783 CA3640954 |
216 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3640955 rs773419308 |
217 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3640957 rs760821581 |
218 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222935841 CA362782580 |
219 | L>S | No |
ClinGen gnomAD |
|
|
rs760009783 CA3640961 |
222 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362782699 rs1562291620 |
225 | A>D | No |
ClinGen Ensembl |
|
|
rs916237894 CA134839719 |
225 | A>P | No |
ClinGen TOPMed |
|
|
CA362782737 rs1481953109 |
227 | Q>P | No |
ClinGen gnomAD |
|
|
rs1246792902 CA362782743 |
228 | F>L | No |
ClinGen TOPMed |
|
|
rs1449159444 CA362782879 |
234 | G>R | No |
ClinGen gnomAD |
|
|
rs1187468961 CA362783509 |
235 | I>F | No |
ClinGen gnomAD |
|
|
rs1562291787 CA362783520 |
236 | Q>K | No |
ClinGen Ensembl |
|
| rs544905440 | 238 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362783562 rs1327322709 |
238 | K>T | No |
ClinGen TOPMed |
|
|
CA134840317 rs1031878989 |
239 | Q>K | No |
ClinGen Ensembl |
|
| rs544905440 | 239 | Q>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771845437 CA134840321 |
241 | A>V | No |
ClinGen Ensembl |
|
|
CA362783641 rs1337839622 |
242 | K>R | No |
ClinGen TOPMed |
|
|
CA134840326 rs756154716 |
243 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs757352608 CA3641007 |
243 | R>S | No |
ClinGen ExAC |
|
|
CA134840336 rs955685371 |
244 | F>I | No |
ClinGen Ensembl |
|
|
CA362783682 rs1384233347 |
244 | F>L | No |
ClinGen TOPMed |
|
|
CA3641009 rs781355359 |
245 | K>* | No |
ClinGen ExAC |
|
|
CA3641008 rs781355359 |
245 | K>E | No |
ClinGen ExAC |
|
|
rs770128577 CA3641010 |
246 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs149682751 CA3641011 |
246 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769092619 CA3641013 |
247 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3641012 rs372102737 |
247 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431832461 CA362783762 |
249 | M>I | No |
ClinGen gnomAD |
|
|
rs375127918 CA134840413 |
249 | M>L | No |
ClinGen ESP TOPMed |
|
|
CA3641014 rs774944427 |
250 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217301146 CA362783814 |
252 | K>R | No |
ClinGen gnomAD |
|
|
CA3641018 rs759319676 |
253 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3641015 rs201690476 |
253 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3641017 rs776366110 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3641016 rs201690476 |
253 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA134840473 rs969931425 |
255 | T>S | No |
ClinGen Ensembl |
|
|
rs765077361 CA3641020 |
256 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA362783913 rs1487686619 |
257 | K>T | No |
ClinGen gnomAD |
No associated diseases with Q9UMY1
1 regional properties for Q9UMY1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Nucleolar protein 7, C-terminal | 172 - 234 | IPR012579 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9D7Z3 | Nol7 | Nucleolar protein 7 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVQLRPRASR | APASAEAMVD | EGQLASEEEE | AEHGLLLGQP | SSGAAAEPLE | EDEEGDDEFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEAPEELTFA | SAQAEAREEE | RRVRETVRRD | KTLLKEKRKR | REELFIEQKK | RKLLPDTILE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLTTASQTNI | KKSPGKVKEV | NLQKKNEDCE | KGNDSKKVKV | QKVQSVSQNK | SYLAVRLKDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLRDSRQQAA | QAFIHNSLYG | PGTNRTTVNK | FLSLANKRLP | VKRAAVQFLN | NAWGIQKKQN |
| 250 | |||||
| AKRFKRRWMV | RKMKTKK |