O95707
Gene name |
POP4 (RPP29) |
Protein name |
Ribonuclease P protein subunit p29 |
Names |
hPOP4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10775 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for O95707
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6AHR | EM | 392 A | D | 1-220 | PDB |
| 6AHU | EM | 366 A | D | 1-220 | PDB |
| AF-O95707-F1 | Predicted | AlphaFoldDB |
224 variants for O95707
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs560619277 CA405146146 |
2 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9351039 rs560619277 |
2 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9351041 rs150671362 |
2 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478255708 CA405146153 |
2 | K>R | No |
ClinGen gnomAD |
|
|
rs1478255708 CA405146155 |
2 | K>T | No |
ClinGen gnomAD |
|
|
rs780885172 CA306796596 |
3 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780885172 CA9351042 |
3 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351091 rs562546233 |
3 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405146185 rs780885172 |
3 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306798297 rs368711270 |
7 | H>R | No |
ClinGen ESP |
|
|
CA9351094 rs748635817 |
9 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA405147488 rs1295198656 |
11 | Q>R | No |
ClinGen gnomAD |
|
|
rs561827225 CA9351095 |
13 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140893351 CA9351097 |
14 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9351096 rs140893351 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776378364 CA9351099 |
16 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs144806266 CA9351101 |
18 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144806266 CA405147566 |
18 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA306798365 rs907137050 |
20 | Q>R | No |
ClinGen gnomAD |
|
|
rs191569878 CA9351128 |
21 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568294329 CA405147756 |
22 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355312242 CA405147771 |
24 | A>V | No |
ClinGen gnomAD |
|
|
rs1485076676 CA405147775 |
25 | Q>P | No |
ClinGen TOPMed |
|
|
CA405147780 rs1316634069 |
26 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA405147781 rs371815864 |
26 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9351132 rs371815864 |
26 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9351130 rs1316634069 |
26 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1245290223 CA405147787 |
27 | A>D | No |
ClinGen TOPMed |
|
|
rs758794017 CA9351135 |
28 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1047470546 CA306799699 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA405147795 rs1330913474 |
29 | A>T | No |
ClinGen TOPMed |
|
|
rs1156752102 CA405147799 |
29 | A>V | No |
ClinGen gnomAD |
|
|
rs1421664988 CA405147809 |
31 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs780819724 CA9351139 |
33 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA405147824 rs780819724 |
33 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9351138 rs756831070 |
33 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405147829 rs547325169 |
34 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547325169 CA9351140 |
34 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769536040 CA9351141 |
36 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774977285 CA9351142 |
37 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749115573 CA9351143 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405147854 rs1379732564 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA9351144 rs565503123 |
39 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs565503123 CA405147861 |
39 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9351147 rs767356797 |
40 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9351146 rs761673906 |
40 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776833922 CA9351148 |
41 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs369766266 CA9351149 |
41 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369766266 CA306799756 |
41 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752810458 CA9351151 |
42 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469678594 CA405147880 |
43 | S>N | No |
ClinGen TOPMed |
|
|
rs1440268826 CA405147884 |
43 | S>R | No |
ClinGen gnomAD |
|
|
rs758843443 CA9351152 |
44 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1192872078 CA405147885 |
44 | P>T | No |
ClinGen gnomAD |
|
|
CA405147895 rs1232619188 |
45 | Q>R | No |
ClinGen TOPMed |
|
|
CA9351154 rs751965777 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9351155 rs372777322 |
47 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9351156 rs372777322 |
47 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557496741 CA9351157 |
47 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779780512 CA9351159 |
48 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1303242887 CA405147913 |
49 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs556692615 CA9351162 |
50 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599486024 CA405147921 |
50 | Q>K | No |
ClinGen Ensembl |
|
|
CA9351163 rs747928353 |
51 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196317823 CA405147942 |
53 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405147945 rs1259772679 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1457998230 CA405147947 |
54 | K>E | No |
ClinGen gnomAD |
|
|
CA9351165 rs772099926 |
54 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351167 rs759679720 |
55 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405147960 rs1599486051 |
56 | V>G | No |
ClinGen Ensembl |
|
|
CA9351169 rs775855654 |
56 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA405147968 rs1599486057 |
57 | V>G | No |
ClinGen Ensembl |
|
|
CA306799913 rs998906348 |
59 | E>G | No |
ClinGen Ensembl |
|
|
rs1599486059 CA405147984 |
60 | Y>D | No |
ClinGen Ensembl |
|
|
rs764397495 CA9351171 |
60 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9351172 rs752018779 |
61 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405147994 rs752018779 |
61 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351173 rs377019351 |
62 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306799920 rs77017418 |
62 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9351174 rs768101003 |
63 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351175 rs750848621 |
63 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405148016 rs750848621 |
63 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351177 rs779367232 |
64 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405148026 rs1325298849 |
64 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 64 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371486003 CA9351178 |
66 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371486003 CA9351179 |
66 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552871765 CA9351180 |
66 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9351181 rs552871765 |
66 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405148078 rs1312082144 |
69 | K>E | No |
ClinGen gnomAD |
|
|
rs777777758 CA9351185 |
69 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA405148104 rs1487971410 |
71 | K>* | No |
ClinGen gnomAD |
|
|
rs770896138 CA9351187 |
71 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA405148126 rs1478388260 |
73 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164637022 CA405148136 |
74 | K>R | No |
ClinGen gnomAD |
|
|
CA9351192 rs769038402 |
75 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351193 rs769038402 |
75 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599486135 CA405148157 |
78 | A>T | No |
ClinGen Ensembl |
|
|
rs1383619932 CA405148165 |
79 | R>K | No |
ClinGen gnomAD |
|
|
CA9351196 rs201177789 |
80 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405148177 rs1347264681 |
81 | R>G | No |
ClinGen TOPMed |
|
|
CA9351198 rs761155586 |
81 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1413982558 CA405148182 |
81 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147388913 CA9351200 |
85 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766860828 CA9351199 |
85 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915944191 CA306800035 |
88 | D>H | No |
ClinGen Ensembl |
|
|
rs778554784 CA9351202 |
89 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565176404 CA9351203 |
91 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA405148244 rs1192672337 |
91 | P>R | No |
ClinGen gnomAD |
|
|
CA306762599 rs907947974 |
96 | Y>C | No |
ClinGen Ensembl |
|
|
rs1360530644 CA405139479 |
100 | L>R | No |
ClinGen gnomAD |
|
|
CA9351228 rs139555241 |
101 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405139495 rs1377822526 |
103 | H>R | No |
ClinGen gnomAD |
|
|
rs773456462 CA9351231 |
104 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA306762623 rs1040370347 |
104 | E>K | No |
ClinGen Ensembl |
|
|
CA405139518 rs1299521054 |
106 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs901882069 CA306762630 |
107 | K>E | No |
ClinGen TOPMed |
|
|
rs747367943 CA9351232 |
108 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9351234 rs771224240 |
110 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351233 rs771224240 |
110 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405139543 rs1568294971 |
110 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405139542 rs771224240 |
110 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77418580 CA306762651 |
112 | D>G | No |
ClinGen Ensembl |
|
|
rs897423885 CA306762659 |
114 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405139569 rs897423885 |
114 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9351237 rs774910255 |
115 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1442406188 CA405139610 |
120 | D>G | No |
ClinGen TOPMed |
|
|
rs1283237729 CA405139608 |
120 | D>N | No |
ClinGen TOPMed |
|
|
rs201440100 CA9351242 |
121 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405139618 rs201440100 |
121 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11556818 CA306762880 |
122 | Q>H | No |
ClinGen Ensembl |
|
|
rs752887866 CA306762869 |
122 | Q>K | No |
ClinGen gnomAD |
|
|
CA405139639 rs1338666899 |
123 | P>L | No |
ClinGen gnomAD |
|
|
rs1297890597 CA405139637 |
123 | P>S | No |
ClinGen gnomAD |
|
|
CA405139642 rs1402295237 |
124 | Q>E | No |
ClinGen gnomAD |
|
|
CA9351263 rs766261948 |
124 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs555100162 CA9351264 |
125 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1283476222 CA405139671 |
128 | A>P | No |
ClinGen TOPMed |
|
|
CA405139673 rs1283476222 |
128 | A>T | No |
ClinGen TOPMed |
|
|
rs553997230 CA306762895 |
128 | A>V | No |
ClinGen 1000Genomes |
|
|
rs908974563 CA306762904 |
129 | K>E | No |
ClinGen TOPMed |
|
|
rs758409161 CA9351265 |
129 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777972860 CA9351266 |
130 | L>F | No |
ClinGen ExAC |
|
|
rs1292634049 CA405139684 |
130 | L>P | No |
ClinGen gnomAD |
|
|
CA405139688 rs1384857147 |
131 | L>V | No |
ClinGen TOPMed |
|
|
rs781359325 CA9351269 |
134 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA306762939 rs936934863 |
137 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 138 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435632355 CA405139741 |
139 | I>V | No |
ClinGen TOPMed |
|
|
CA405139751 rs1471655673 |
140 | I>T | No |
ClinGen gnomAD |
|
|
CA9351286 rs190122547 |
142 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1045558399 CA306764457 |
143 | T>A | No |
ClinGen Ensembl |
|
|
CA9351287 rs781414590 |
143 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405140080 rs1378551030 |
147 | C>Y | No |
ClinGen gnomAD |
|
|
CA306764488 rs928496141 |
148 | P>L | No |
ClinGen gnomAD |
|
|
CA405140085 rs1247649850 |
148 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413171084 CA405140117 |
153 | I>V | No |
ClinGen gnomAD |
|
|
CA405140138 rs1446705091 |
156 | I>N | No |
ClinGen gnomAD |
|
|
CA9351291 rs199914869 |
158 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405140154 rs1240589776 |
159 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891562743 CA306764527 |
162 | K>Q | No |
ClinGen TOPMed |
|
|
rs1441610311 CA405140183 |
163 | H>Y | No |
ClinGen TOPMed |
|
|
rs145445007 CA306764540 |
164 | I>F | No |
ClinGen ESP |
|
| TCGA novel | 167 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342407767 CA405140220 |
168 | I>V | No |
ClinGen gnomAD |
|
|
CA9351294 rs769257774 |
170 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs547007300 CA9351297 |
173 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9351299 rs61731483 |
173 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61731483 CA9351298 |
173 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773330218 CA9351334 |
177 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405140293 rs1263599642 |
177 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA405140294 rs1427792184 |
178 | P>S | No |
ClinGen gnomAD |
|
|
rs1354416815 CA405140304 |
179 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373272239 CA306765900 |
180 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA405140325 rs184488449 |
182 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9351335 rs760642859 |
182 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1264302287 CA405140329 |
183 | V>A | No |
ClinGen gnomAD |
|
|
rs753961498 CA306765917 |
183 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9351337 rs753961498 |
183 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1358269789 CA405140351 |
187 | E>* | No |
ClinGen gnomAD |
|
|
rs1187528012 CA405140364 |
188 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1187528012 CA405140363 |
188 | T>S | No |
ClinGen gnomAD |
|
|
CA405140369 rs1299878820 |
189 | D>E | No |
ClinGen gnomAD |
|
|
rs13767 CA9351341 |
189 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163696278 CA405140367 |
189 | D>V | No |
ClinGen gnomAD |
|
|
rs13767 CA9351342 |
189 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759019897 CA405140386 |
192 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199910211 CA9351344 |
192 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9351343 rs759019897 |
192 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290017126 CA405140391 |
193 | S>P | No |
ClinGen TOPMed |
|
|
CA9351348 rs370479191 |
197 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370479191 CA9351349 |
197 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405140441 rs1315860307 |
200 | F>V | No |
ClinGen gnomAD |
|
|
CA9351351 rs775330538 |
201 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs536828056 CA306766017 |
203 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536828056 CA9351352 |
203 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262696040 CA405140461 |
203 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1425087395 CA405140476 |
205 | S>R | No |
ClinGen TOPMed |
|
|
CA405140486 rs1254453303 |
207 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9351353 rs768627869 |
207 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9351354 rs138123473 |
209 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201670827 CA306766031 |
211 | K>N | No |
ClinGen Ensembl |
|
|
CA405140521 CA9351356 rs770846548 |
212 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379173414 CA405140518 |
212 | F>S | No |
ClinGen gnomAD |
|
|
CA405140527 rs1160921456 |
213 | K>T | No |
ClinGen gnomAD |
|
|
CA9351357 rs143408535 |
214 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759908705 CA9351358 |
214 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248991827 CA405140540 |
215 | K>N | No |
ClinGen gnomAD |
|
|
CA405140538 rs1404034451 |
215 | K>R | No |
ClinGen gnomAD |
|
|
rs377056786 CA9351360 |
216 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9351362 rs74712490 |
217 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393952224 CA405140556 |
218 | I>T | No |
ClinGen gnomAD |
|
|
rs34601920 CA9351364 |
219 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with O95707
No regional properties for O95707
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95707 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| multimeric ribonuclease P complex | A ribonuclease P complex that generally contains a single RNA molecule and several protein molecules. Examples of this complex are found in Archaeal species. |
| 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. |
| ribonuclease MRP complex | A ribonucleoprotein complex that contains an RNA molecule of the snoRNA family, and cleaves the rRNA precursor as part of rRNA transcript processing. It also has other roles: In S. cerevisiae it is involved in cell cycle-regulated degradation of daughter cell-specific mRNAs, while in mammalian cells it also enters the mitochondria and processes RNAs to create RNA primers for DNA replication. |
| ribonuclease P complex | A ribonucleoprotein complex that catalyzes cleavage of the leader sequence of precursor tRNAs (pre-tRNAs), generating the mature 5' end of tRNAs. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ribonuclease P activity | Catalysis of the endonucleolytic cleavage of RNA, removing 5' extra nucleotides from tRNA precursor. |
| ribonuclease P RNA binding | Binding to RNA subunit of ribonuclease P. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| tRNA 5'-leader removal | Generation of the mature 5'-end of the tRNA, usually via an endonucleolytic cleavage by RNase P. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38336 | POP4 | RNases MRP/P 32.9 kDa subunit | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKSVIYHALS | QKEANDSDVQ | PSGAQRAEAF | VRAFLKRSTP | RMSPQAREDQ | LQRKAVVLEY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FTRHKRKEKK | KKAKGLSARQ | RRELRLFDIK | PEQQRYSLFL | PLHELWKQYI | RDLCSGLKPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TQPQMIQAKL | LKADLHGAII | SVTKSKCPSY | VGITGILLQE | TKHIFKIITK | EDRLKVIPKL |
| 190 | 200 | 210 | |||
| NCVFTVETDG | FISYIYGSKF | QLRSSERSAK | KFKAKGTIDL |