Q96EU6
Gene name |
RRP36 (C6orf153, HSPC253) |
Protein name |
Ribosomal RNA processing protein 36 homolog |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:88745 |
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
1 structures for Q96EU6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96EU6-F1 | Predicted | AlphaFoldDB |
233 variants for Q96EU6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3812754 rs748570963 |
2 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748570963 CA3812755 |
2 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364160422 rs1214721926 |
2 | P>T | No |
ClinGen gnomAD |
|
|
CA138223505 rs575703356 |
4 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA138223504 rs982409640 |
4 | A>T | No |
ClinGen TOPMed |
|
|
CA3812757 rs575703356 |
4 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776622419 CA3812759 |
5 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812761 rs769916609 |
6 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs759483520 CA3812760 |
6 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs374693217 CA3812762 |
7 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374693217 CA3812763 |
7 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199544375 CA138223583 CA364160573 |
9 | G>R | No |
ClinGen gnomAD |
|
|
rs1376616487 CA364160596 |
10 | A>D | No |
ClinGen gnomAD |
|
|
CA364160606 rs1437080322 |
11 | G>W | No |
ClinGen gnomAD |
|
|
CA3812773 rs751251366 |
13 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812774 rs761423447 |
14 | A>T | No |
ClinGen ExAC |
|
|
rs982280354 CA138223618 |
14 | A>V | No |
ClinGen Ensembl |
|
|
rs937110331 CA138223638 |
15 | G>R | No |
ClinGen Ensembl |
|
|
rs755464919 CA3812778 |
16 | A>D | No |
ClinGen ExAC |
|
|
rs749969788 CA3812777 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA364160708 rs1458618014 |
17 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364160705 rs1458618014 |
17 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1349971012 CA364160716 |
17 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364160714 rs1349971012 |
17 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA364160728 rs1371022659 |
18 | R>G | No |
ClinGen TOPMed |
|
|
CA364160741 rs1282320063 |
18 | R>H | No |
ClinGen gnomAD |
|
|
CA364160733 rs1282320063 |
18 | R>L | No |
ClinGen gnomAD |
|
|
CA364160780 rs1581882302 |
20 | R>P | No |
ClinGen Ensembl |
|
|
CA364160803 rs1581882316 |
22 | A>G | No |
ClinGen Ensembl |
|
|
rs984160436 CA138223652 |
22 | A>T | No |
ClinGen TOPMed |
|
|
CA364160810 rs1446052199 |
23 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364160821 rs1163533827 |
23 | R>L | No |
ClinGen gnomAD |
|
|
rs1446052199 CA364160813 |
23 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs779407305 CA3812779 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453885134 CA364160944 |
31 | G>S | No |
ClinGen TOPMed |
|
|
rs540615157 CA3812780 |
37 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364161076 rs540615157 |
37 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187538698 CA364161099 |
38 | A>D | No |
ClinGen TOPMed |
|
|
rs1400865037 CA364161082 |
38 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1400865037 CA364161081 |
38 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364161097 rs1187538698 |
38 | A>V | No |
ClinGen TOPMed |
|
|
rs1451847072 CA364161116 |
39 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA364161860 rs1210716306 |
40 | D>N | No |
ClinGen TOPMed |
|
|
rs931194093 CA138223682 |
41 | L>V | No |
ClinGen Ensembl |
|
|
rs1384771967 CA364161951 |
43 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3812796 rs765692189 |
45 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160753881 CA364164002 |
47 | N>K | No |
ClinGen gnomAD |
|
|
CA3812797 rs753224465 |
48 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758951086 CA364164089 |
49 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758951086 CA3812798 |
49 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812799 rs764487570 |
50 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389437670 CA364164205 |
52 | E>D | No |
ClinGen gnomAD |
|
|
rs201407458 CA3812800 |
52 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3812801 rs757485192 |
53 | L>V | No |
ClinGen ExAC |
|
|
rs1336309190 CA364164278 |
54 | L>S | No |
ClinGen gnomAD |
|
|
rs1336309190 CA364164275 |
54 | L>W | No |
ClinGen gnomAD |
|
|
rs1241013486 CA364164284 |
55 | E>K | No |
ClinGen gnomAD |
|
|
TCGA novel rs1332746049 CA364164399 |
57 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs781279874 CA3812802 |
57 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1053772743 CA138226532 |
59 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1561862738 CA364164509 |
61 | G>R | No |
ClinGen Ensembl |
|
|
rs745872992 CA3812803 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140642066 CA364164668 |
64 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140642066 CA3812804 |
64 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780334417 CA3812805 |
65 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA364164725 rs1184953523 |
66 | K>E | No |
ClinGen gnomAD |
|
|
CA364164752 rs1423754739 |
66 | K>N | No |
ClinGen gnomAD |
|
|
rs1469800765 COSM1621675 CA364164924 |
70 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3812808 rs774183025 |
75 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812809 rs747910957 |
75 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs138428694 CA3812810 |
77 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_027786 CA3812811 rs3749903 |
78 | A>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA364165280 rs3749903 |
78 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3812812 rs553943818 |
79 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1353683272 CA364165336 |
80 | R>I | No |
ClinGen gnomAD |
|
|
rs1015458496 CA138226602 |
81 | P>A | No |
ClinGen TOPMed |
|
|
CA364165438 rs1317379967 |
82 | P>S | No |
ClinGen gnomAD |
|
|
CA364165459 rs1465946895 |
83 | I>T | No |
ClinGen TOPMed |
|
|
rs149918001 CA3812814 |
83 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364165580 rs1581885462 |
86 | A>G | No |
ClinGen Ensembl |
|
|
rs371308817 CA3812817 |
89 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374211157 CA3812818 |
90 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364165810 rs1207972132 |
92 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3812832 rs776101412 |
94 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759055516 CA3812833 |
97 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769137460 CA3812834 |
98 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774748587 CA3812835 |
99 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3812836 rs762434217 |
100 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA364166324 rs1444878881 |
102 | R>* | No |
ClinGen gnomAD |
|
|
CA3812837 rs149161868 |
102 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364166365 rs1245743539 |
103 | V>E | No |
ClinGen TOPMed |
|
|
rs760969484 CA3812839 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760969484 CA364166524 |
107 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766723130 CA3812841 |
107 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3812840 rs766723130 |
107 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs755046273 CA3812842 |
108 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA364166562 rs1396387494 |
108 | Q>L | No |
ClinGen TOPMed |
|
|
rs552159549 CA3812844 |
111 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs868082733 CA138226873 |
112 | I>V | No |
ClinGen Ensembl |
|
|
rs1220375008 CA364166712 |
113 | S>G | No |
ClinGen gnomAD |
|
|
rs376172874 CA3812846 |
115 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145019013 CA138229542 |
117 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367634568 CA364168497 |
118 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1079404 CA3812874 rs146780269 |
118 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1444615 CA138229545 rs367634568 |
118 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1322861578 CA364168529 |
119 | D>N | No |
ClinGen TOPMed |
|
|
CA3812875 rs140481362 |
120 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138229560 rs944793469 |
121 | R>C | No |
ClinGen TOPMed |
|
|
CA3812876 rs371656429 |
121 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3812877 rs773886777 |
123 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA364168797 rs1351852896 |
125 | L>P | No |
ClinGen gnomAD |
|
|
CA3812879 CA364168821 rs771399305 |
126 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388047801 CA364168802 |
126 | S>T | No |
ClinGen TOPMed |
|
|
CA364168853 rs1458177933 |
127 | G>R | No |
ClinGen TOPMed |
|
|
rs998897931 CA138229600 |
128 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3812881 rs777173464 |
130 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276658063 CA364169089 |
132 | E>Q | No |
ClinGen gnomAD |
|
|
CA364169115 rs1484620039 CA364169120 |
133 | V>L | No |
ClinGen gnomAD |
|
|
CA3812883 rs759672264 |
134 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364169317 rs1473283640 |
138 | Y>* | No |
ClinGen gnomAD |
|
|
rs145903817 CA3812885 |
139 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3812887 rs763977082 |
140 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148154536 CA3812888 COSM159639 |
141 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3812890 rs374850944 |
145 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750295495 CA3812892 |
145 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750295495 CA3812891 |
145 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779762073 CA3812894 |
146 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364169800 rs1561863286 |
148 | E>D | No |
ClinGen Ensembl |
|
|
CA3812897 rs754559538 |
148 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3812898 rs778617196 |
149 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA364170445 rs1277917772 |
153 | K>R | No |
ClinGen gnomAD |
|
|
CA3812923 rs749509939 |
155 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768928093 CA364170565 CA3812924 |
156 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1373137582 CA364170606 |
157 | K>R | No |
ClinGen TOPMed |
|
|
rs1332886019 CA364170612 |
158 | K>Q | No |
ClinGen gnomAD |
|
|
rs1268411911 CA364170842 |
162 | G>E | No |
ClinGen gnomAD |
|
|
rs150243178 CA3812925 |
163 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761890283 CA3812926 |
166 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771864584 CA3812927 |
169 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138000931 CA3812928 |
169 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364171088 rs1159213886 |
169 | Q>R | No |
ClinGen TOPMed |
|
|
CA3812929 rs201033484 |
170 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753750744 CA3812931 |
171 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759248834 CA3812932 |
172 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1307302054 CA364171182 |
173 | Q>* | No |
ClinGen gnomAD |
|
|
rs1350000708 CA364171228 |
174 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3812933 rs201667467 |
174 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364171448 rs1356509094 |
176 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3812959 rs371077361 |
177 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364171475 rs1195152813 |
177 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs562969123 CA138230606 |
178 | Q>* | No |
ClinGen gnomAD |
|
|
CA364171557 rs1320377422 |
180 | M>V | No |
ClinGen gnomAD |
|
|
CA364171626 rs1366376083 |
183 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3812960 rs766804064 |
184 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM188578 rs575586322 CA3812961 |
185 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs117415551 CA3812962 |
185 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1561863771 CA364171702 |
186 | K>E | No |
ClinGen Ensembl |
|
|
CA3812964 rs748340079 |
187 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1248483023 CA364171949 |
192 | H>Y | No |
ClinGen gnomAD |
|
|
CA138230664 rs750147388 |
194 | A>G | No |
ClinGen Ensembl |
|
|
CA364172017 rs747071318 |
195 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3812967 rs747071318 |
195 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364172104 rs1271900092 |
197 | Q>R | No |
ClinGen TOPMed |
|
|
rs1176901871 CA364172177 |
199 | R>C | No |
ClinGen gnomAD |
|
|
CA3812968 rs770834773 |
199 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1246908 rs180946521 CA3812971 |
200 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3812970 rs745605375 |
200 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1437750358 CA364172299 |
201 | A>P | No |
ClinGen gnomAD |
|
|
rs1377445166 CA364172304 |
201 | A>V | No |
ClinGen TOPMed |
|
|
rs775462988 CA3812972 |
203 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1306591350 CA364172433 |
204 | Q>* | No |
ClinGen TOPMed |
|
|
CA3812973 rs762660786 |
205 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA364172468 rs762660786 |
205 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1387795345 CA364172540 |
206 | G>D | No |
ClinGen gnomAD |
|
|
CA3812974 rs763669657 |
207 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761263930 CA364172630 |
208 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs761263930 CA3812976 |
208 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773848628 CA3812975 COSM3777681 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364172710 rs1330724262 |
211 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3812998 rs765745200 |
217 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs140316056 CA3812999 |
218 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3813000 rs763256930 |
218 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424627594 CA364174295 |
219 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs199956173 CA3813001 |
222 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1400219658 CA364174372 |
223 | A>T | No |
ClinGen TOPMed |
|
|
CA3813002 rs751704275 |
223 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3813003 rs757590627 |
224 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369251295 CA364174393 |
224 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364174457 CA3813004 rs371847127 |
226 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3813005 rs750587298 |
227 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3813006 rs371459242 |
227 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3813007 rs780172948 |
227 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA138232372 rs750587298 |
227 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1379387048 CA364174514 |
228 | E>G | No |
ClinGen gnomAD |
|
|
CA3813008 rs749063179 |
229 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs934029119 CA138232399 |
231 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3813009 rs374907155 |
232 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201588473 CA3813010 |
233 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1079406 rs771772252 CA3813012 |
238 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs772653926 CA3813013 |
238 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201561865 CA3813014 |
240 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759948925 CA3813015 |
241 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759948925 CA364174853 |
241 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3813016 rs775879581 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3813017 rs528827718 |
244 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3813018 rs764334710 |
244 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142677240 CA3813019 |
245 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3813020 rs572074645 |
245 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3813022 rs750491646 |
247 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364175069 rs1022559034 |
250 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA138232503 rs1022559034 |
250 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3813023 rs144610442 |
251 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148480237 CA3813024 |
252 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3813025 rs753692615 |
252 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319494474 CA364175170 |
253 | H>N | No |
ClinGen TOPMed |
|
|
CA138232575 rs1002368059 |
253 | H>R | No |
ClinGen TOPMed |
|
|
rs1319494474 CA364175174 |
253 | H>Y | No |
ClinGen TOPMed |
|
|
CA364175193 rs1246619653 |
254 | L>F | No |
ClinGen gnomAD |
|
|
CA3813029 rs376655454 |
257 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364175307 rs1477286080 |
258 | K>N | No |
ClinGen gnomAD |
|
|
CA364175300 rs1244368971 |
258 | K>R | No |
ClinGen gnomAD |
|
|
rs376410795 CA3813031 |
259 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | E>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3813032 rs529652316 |
260 | E>S | No |
ClinGen 1000Genomes ExAC |
No associated diseases with Q96EU6
No regional properties for Q96EU6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96EU6 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 90S preribosome | A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cleavage involved in rRNA processing | Any phosphodiester bond hydrolysis involved in the conversion of a primary ribosomal RNA (rRNA) transcript into a mature rRNA molecule. |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| ribosomal small subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGANYRAGA | GAGAGARRPR | GARDREEDGG | GLEPAAVARD | LLRGTSNMSF | EELLELQSQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTKTYKQLVA | GNSPKKQASR | PPIQNACVAD | KHRPLEMSAK | IRVPFLRQVV | PISKKVARDP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFDDLSGEYN | PEVFDKTYQF | LNDIRAKEKE | LVKKQLKKHL | SGEEHEKLQQ | LLQRMEQQEM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AQQERKQQQE | LHLALKQERR | AQAQQGHRPY | FLKKSEQRQL | ALAEKFKELK | RSKKLENFLS |
| 250 | |||||
| RKRRRNAGKD | RRHLPLSKE |