O75792
PR
Gene name |
RNASEH2A (RNASEHI, RNHIA) |
Protein name |
Ribonuclease H2 subunit A |
Names |
RNase H2 subunit A, Aicardi-Goutieres syndrome 4 protein, AGS4, RNase H(35), Ribonuclease HI large subunit, RNase HI large subunit, Ribonuclease HI subunit A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10535 |
EC number |
3.1.26.4: Endoribonucleases producing 5'-phosphomonoesters |
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 O75792
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3P56 | X-ray | 406 A | A/D | 1-299 | PDB |
| 3PUF | X-ray | 310 A | A/D/G/J/M/P | 1-299 | PDB |
| AF-O75792-F1 | Predicted | AlphaFoldDB |
319 variants for O75792
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_070623 | 2 | D>YP | AGS4 [UniProt] | Yes | UniProt |
|
CA404263109 rs1555734300 RCV000639855 |
10 | N>S | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1968995083 RCV001236406 |
15 | R>H | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA305492134 RCV001044470 rs546042666 |
25 | R>C | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000691561 CA305492137 rs955631391 |
25 | R>L | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770044946 RCV000728319 RCV000811955 CA9231716 |
27 | E>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA404263375 RCV000703061 rs1568386452 |
28 | P>H | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9231719 rs762516714 RCV001238379 |
34 | D>G | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_027377 RCV000004904 CA340281 rs76857106 |
37 | G>S | Aicardi-Goutieres syndrome 4 AGS4; strongly impairs enzyme activity but not interaction with RNASEH2B and RNASEH2C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001044174 rs1968997110 |
39 | G>H | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239167 rs1792077195 |
42 | L>PR | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232243 rs1252576410 |
43 | G>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755133697 CA9231751 RCV001341494 |
43 | G>V | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1187283211 RCV001239081 CA404263872 |
45 | M>I | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001063942 rs749085589 CA9231755 |
48 | A>G | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777734868 CA9231754 RCV001223415 |
48 | A>T | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068131 CA9231759 rs771789854 |
54 | L>V | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001239437 rs1969003412 |
56 | R>C | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222777 rs761841313 |
56 | R>L | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299554 CA9231760 rs775194617 |
57 | L>V | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA9231764 rs373301983 RCV000687222 |
60 | L>P | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1969003682 RCV001577817 RCV001324400 |
61 | E>missing | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs77672568 RCV000114337 |
70 | T>missing | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003141763 RCV001797792 RCV001551078 rs549586181 RCV000779252 |
70 | T>missing | Aicardi Goutieres syndrome Kleefstra syndrome 2 Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9231801 rs753695101 RCV001070145 RCV001760050 |
75 | E>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003160558 CA9231802 rs747608935 RCV001068009 |
76 | R>Q | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298783 rs776835503 CA9231810 |
87 | D>E | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9231815 rs562864527 RCV000813762 |
92 | A>V | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1457758264 RCV000661914 CA404265247 |
97 | S>F | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA404265449 rs1232764867 RCV001058397 |
108 | R>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_070625 RCV000114338 rs76436818 CA345495 |
108 | R>W | Aicardi-Goutieres syndrome 4 AGS4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs143029477 CA9231856 RCV000888861 |
110 | K>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1969010870 RCV001068595 |
113 | L>M | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1969011556 RCV001326099 |
125 | I>L | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150008398 RCV000706691 CA9231866 |
125 | I>T | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001064142 rs1033081366 CA305493120 |
143 | V>I | Variant assessed as Somatic; impact. Aicardi-Goutieres syndrome 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769486587 CA404266595 RCV001335416 |
147 | E>K | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9231900 RCV000822955 rs769486587 |
147 | E>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9231908 COSM143418 rs757486362 RCV001347586 |
152 | R>Q | skin Aicardi-Goutieres syndrome 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001296736 rs1046057251 CA305493165 |
163 | T>M | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs904903620 RCV001307104 CA305493168 |
164 | V>I | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001203702 rs1262482666 CA404267019 |
172 | Y>C | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9231923 rs369355807 RCV001052467 |
173 | P>L | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9231955 RCV000514532 RCV002524980 rs753679297 RCV000763423 |
186 | R>Q | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345300 RCV000610608 rs77103971 RCV000056305 VAR_070626 |
186 | R>W | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 4 AGS4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1448707577 RCV000794257 CA404267424 |
189 | A>D | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1969055468 RCV001211598 |
190 | V>A | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370225385 CA9231960 RCV000808412 |
190 | V>M | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9231961 rs748699424 RCV001126488 |
191 | K>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555734800 RCV000624827 CA404267621 |
197 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_024617 RCV000245339 RCV000531947 CA9231969 RCV001668520 rs7247284 |
202 | L>S | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs62619782 RCV000712932 CA9231971 RCV000544425 VAR_070627 |
205 | D>E | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568387884 CA404267922 RCV001069310 |
209 | G>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377244188 CA264794 RCV000056306 |
212 | N>I | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002544650 rs377244188 CA9231972 RCV001304321 |
212 | N>S | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308125 CA9232000 rs112503877 RCV002545012 |
218 | A>V | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000625140 CA9232003 RCV001573855 rs143534021 |
221 | K>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1321788478 RCV001048560 |
224 | V>E | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM2816579 RCV001214822 rs775597355 CA9232005 |
224 | V>M | pancreas Aicardi-Goutieres syndrome 4 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000114339 rs79767407 COSM3822023 CA345497 VAR_070628 |
230 | F>L | Variant assessed as Somatic; impact. Aicardi-Goutieres syndrome 4 breast AGS4 [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_070629 rs75718910 RCV003155061 CA345294 RCV000056303 |
235 | R>Q | Aicardi Goutieres syndrome Aicardi-Goutieres syndrome 4 AGS4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA9232011 RCV000799844 rs773112247 |
235 | R>W | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs372667206 CA9232012 RCV000816820 |
239 | R>C | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000114340 rs78705193 |
240 | T>missing | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070630 rs79843600 CA345502 RCV000114341 |
240 | T>M | Aicardi-Goutieres syndrome 4 AGS4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000661915 CA404269426 rs758719669 |
249 | A>E | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002549739 CA9232019 rs758719669 RCV000990152 |
249 | A>V | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000967301 rs145662304 CA9232024 |
253 | I>T | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000519024 RCV001208798 rs757666508 CA9232025 |
254 | W>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001352056 CA9232045 rs770898096 VAR_070631 |
260 | E>G | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs369098182 CA9232049 RCV001219778 |
268 | I>T | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9232053 RCV000712933 rs373169862 RCV001048368 |
274 | N>S | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756346898 RCV001068640 CA9232060 |
280 | R>H | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000591792 rs142642923 RCV001364590 CA9232062 |
282 | R>C | Variant assessed as Somatic; 0.0 impact. Aicardi-Goutieres syndrome 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1568388876 RCV000735219 CA404269931 |
285 | H>Q | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1969104623 RCV001227635 |
289 | L>missing | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745764952 CA9232065 RCV001351181 |
289 | L>R | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9232066 rs771858022 RCV001230827 RCV002563191 |
291 | R>C | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000114342 CA345505 COSM51308 rs75037667 VAR_070632 |
291 | R>H | Aicardi-Goutieres syndrome 4 breast AGS4 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210471 rs75037667 |
291 | R>L | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000712934 rs768346345 CA9232068 RCV000765436 |
292 | G>S | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001070146 rs764614950 RCV001760051 CA9232071 |
294 | E>K | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342034 rs1969105528 |
295 | S>L | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1438193575 RCV001223615 |
295 | S>T | Aicardi-Goutieres syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9232073 RCV002525069 RCV001128553 RCV000517805 rs760066036 |
298 | S>R | Aicardi-Goutieres syndrome 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA404262979 rs1467569108 |
2 | D>E | No |
ClinGen gnomAD |
|
|
rs1489973272 CA404262973 |
2 | D>G | No |
ClinGen TOPMed |
|
|
rs761331717 CA404262955 |
2 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761331717 CA9231706 |
2 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9231707 rs764685443 |
3 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1178868261 CA404262984 |
3 | L>V | No |
ClinGen gnomAD |
|
|
rs867179008 CA305492095 |
5 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs748534225 CA305492104 |
9 | D>G | No |
ClinGen Ensembl |
|
|
rs1190510763 CA404263122 |
11 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9231708 rs373265362 |
11 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404263125 rs373265362 |
11 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9231711 rs750635099 |
12 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779298565 CA9231710 |
12 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404263166 rs1289383180 |
13 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404263163 rs1289383180 |
13 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs893694638 CA305492112 |
14 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1438464682 CA404263182 |
14 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404263174 rs1380336685 |
14 | C>Y | No |
ClinGen gnomAD |
|
|
rs780005912 CA9231713 |
15 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs902489928 CA305492118 |
16 | L>R | No |
ClinGen Ensembl |
|
|
CA305492121 rs1039519462 |
19 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305492124 rs750233145 |
19 | P>H | No |
ClinGen Ensembl |
|
|
CA305492126 rs750233145 |
19 | P>R | No |
ClinGen Ensembl |
|
|
rs1568386434 CA404263293 |
22 | A>S | No |
ClinGen Ensembl |
|
|
CA9231715 rs768625813 |
22 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404263336 rs1203795008 |
26 | K>E | No |
ClinGen gnomAD |
|
|
rs1262012443 CA404263346 |
26 | K>N | No |
ClinGen gnomAD |
|
|
CA404263352 rs770044946 |
27 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404263367 rs1479571356 |
28 | P>A | No |
ClinGen TOPMed |
|
|
CA404263421 rs1414936047 |
32 | G>S | No |
ClinGen gnomAD |
|
|
CA9231718 rs773000215 |
34 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404263460 rs762516714 |
34 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404263478 rs1451322780 |
35 | E>K | No |
ClinGen gnomAD |
|
|
rs770612177 CA9231720 |
36 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770612177 CA404263527 |
36 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11554405 CA9231722 |
37 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA404263550 rs11554405 |
37 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395573519 CA404263589 |
39 | G>V | No |
ClinGen gnomAD |
|
|
rs1319321788 CA404263601 |
40 | P>S | No |
ClinGen gnomAD |
|
|
CA404263659 rs1349054266 |
41 | V>G | No |
ClinGen gnomAD |
|
|
CA404263635 rs1285686950 |
41 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1254992736 CA404263662 |
42 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1482633002 CA404263676 |
42 | L>P | No |
ClinGen gnomAD |
|
|
rs755133697 CA9231750 |
43 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404263683 rs1252576410 |
43 | G>S | No |
ClinGen gnomAD |
|
|
CA404263857 rs1486090917 |
45 | M>V | No |
ClinGen gnomAD |
|
|
CA305492178 rs1025435566 |
46 | V>I | No |
ClinGen Ensembl |
|
|
CA9231756 rs757096626 |
50 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9231757 rs145615282 |
51 | Y>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA305492182 rs899448243 |
51 | Y>C | No |
ClinGen TOPMed |
|
|
CA9231758 rs745517477 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404264075 rs745517477 |
53 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305492184 rs761841313 |
56 | R>H | No |
ClinGen Ensembl |
|
|
CA9231761 rs766343269 |
59 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231762 rs770257806 |
59 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774643108 CA9231766 |
62 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9231765 rs766736329 |
62 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758295728 CA9231797 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404264694 rs1234798618 |
74 | S>G | No |
ClinGen gnomAD |
|
|
rs771469429 CA9231803 |
77 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1438494789 CA404264789 |
78 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9231804 rs779370736 |
79 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1236937852 CA404264844 |
81 | A>E | No |
ClinGen gnomAD |
|
|
rs772456330 CA9231806 |
83 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1194728277 CA404264897 |
83 | M>R | No |
ClinGen gnomAD |
|
|
CA9231805 rs746324858 |
83 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231807 rs775648683 |
84 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA404264916 rs1476806613 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs1396544058 CA404264941 |
85 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760963748 CA9231808 |
86 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9231809 rs193084598 |
86 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9231811 rs761949269 |
89 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs773318256 CA9231813 |
90 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9231814 rs762920194 |
91 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA404265135 COSM991453 rs1469814992 |
92 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs774265403 CA305492260 |
94 | D>G | No |
ClinGen Ensembl |
|
|
CA404265194 rs1379029323 |
94 | D>Y | No |
ClinGen TOPMed |
|
|
rs754727728 CA9231817 |
95 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9231816 rs551889201 |
95 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425358483 CA404265232 |
96 | L>P | No |
ClinGen gnomAD |
|
|
CA9231818 rs767046465 |
98 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767046465 CA404265251 |
98 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_070624 | 99 | N>D | No | UniProt | |
|
rs752253443 CA9231820 |
99 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA404265268 rs1599533088 |
99 | N>T | No |
ClinGen Ensembl |
|
|
rs762016525 CA305492274 |
102 | S>F | No |
ClinGen Ensembl |
|
|
CA404265366 rs1197690315 |
103 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1478511831 CA404265382 |
104 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777223546 CA9231822 |
105 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA404265428 rs1461834584 |
106 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9231823 rs76436818 |
108 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404265634 rs1254142641 |
111 | Y>C | No |
ClinGen TOPMed |
|
|
CA305492339 rs1045333938 |
111 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404265677 rs1599533234 |
112 | N>T | No |
ClinGen Ensembl |
|
|
CA9231857 rs762934652 |
115 | S>* | No |
ClinGen ExAC |
|
|
CA9231862 rs763729672 |
117 | S>L | No |
ClinGen ExAC |
|
| TCGA novel | 118 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213945407 CA404265868 |
119 | D>E | No |
ClinGen gnomAD |
|
|
rs1288755006 CA404265893 |
120 | T>I | No |
ClinGen gnomAD |
|
|
CA9231863 rs753384166 |
121 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404265980 rs1599533284 |
124 | L>F | No |
ClinGen Ensembl |
|
|
CA9231867 rs755460159 |
126 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1182449523 CA404266382 |
126 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1568386885 CA404266402 COSM991455 |
128 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs753110328 CA9231869 |
132 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404266468 rs1238284101 |
134 | N>D | No |
ClinGen gnomAD |
|
|
CA404266476 rs1369681988 |
135 | V>I | No |
ClinGen TOPMed |
|
|
rs1459366188 CA404266485 |
136 | T>S | No |
ClinGen TOPMed |
|
|
CA9231897 rs201995029 |
138 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9231896 rs746895261 |
138 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305493109 rs201413125 |
139 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439655973 CA404266519 |
140 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs967836212 CA305493115 |
141 | D>G | No |
ClinGen TOPMed |
|
|
rs1336404637 CA404266533 |
142 | T>A | No |
ClinGen TOPMed |
|
|
rs373008346 CA305493117 |
142 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA404266568 rs1423372877 |
145 | M>I | No |
ClinGen gnomAD |
|
|
rs772640456 CA305493127 |
147 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404266623 rs1376237332 |
148 | T>K | No |
ClinGen TOPMed |
|
|
rs762503607 CA9231903 CA404266644 |
149 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA305493132 rs778007890 |
150 | Q>* | No |
ClinGen Ensembl |
|
|
rs1050699334 CA305493139 |
150 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776172356 CA9231904 |
150 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA404266654 rs776172356 |
150 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404266663 rs761198813 |
151 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761198813 CA404266666 |
151 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231905 rs761198813 |
151 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369325444 COSM181102 CA9231906 |
151 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs942243073 CA305493145 |
152 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9231911 rs750514569 |
155 | Q>E | No |
ClinGen ExAC |
|
|
CA404266738 rs1237033317 |
156 | S>N | No |
ClinGen TOPMed |
|
|
CA305493155 rs866596750 |
158 | P>S | No |
ClinGen Ensembl |
|
|
rs746950188 CA9231914 |
159 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599535194 CA404266794 |
160 | I>M | No |
ClinGen Ensembl |
|
|
CA404266786 rs1218725412 |
160 | I>V | No |
ClinGen gnomAD |
|
|
rs754899919 CA9231916 CA9231915 |
161 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA305493163 rs199860189 |
162 | V>M | No |
ClinGen 1000Genomes |
|
|
rs769385042 CA9231918 |
166 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs748911443 CA9231920 |
168 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9231919 rs772940870 |
168 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9231921 rs770569884 |
170 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs545207835 CA305493175 |
171 | L>F | No |
ClinGen Ensembl |
|
|
rs757264601 CA9231922 |
172 | Y>* | No |
ClinGen ExAC |
|
|
CA404267018 rs1262482666 |
172 | Y>S | No |
ClinGen TOPMed |
|
|
CA404267036 rs369355807 |
173 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202760597 CA404267031 |
173 | P>S | No |
ClinGen gnomAD |
|
|
CA9231925 rs764655508 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1232490306 CA404267061 |
175 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1232490306 CA404267058 |
175 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 178 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 180 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9231926 rs776898873 |
180 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201041092 CA404267180 |
181 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201041092 CA9231927 |
181 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404267202 rs1398890089 |
182 | A>V | No |
ClinGen gnomAD |
|
|
CA9231954 rs777679893 |
184 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1000359807 CA305493239 |
185 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs368438964 CA9231957 |
188 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599535381 CA404267413 |
189 | A>T | No |
ClinGen Ensembl |
|
|
CA404267534 rs1212842320 |
193 | W>C | No |
ClinGen gnomAD |
|
|
CA9231963 rs773609935 |
195 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771240439 CA9231965 |
196 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs781284373 RCV000788143 |
197 | E>missing | No |
ClinVar dbSNP |
|
|
rs774588193 CA9231967 |
198 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231968 rs759610732 |
199 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404267813 rs1568387860 |
204 | T>A | No |
ClinGen Ensembl |
|
|
CA9231970 rs752708054 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs965949988 CA305493272 |
205 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404267912 RCV000521192 rs1555734806 |
208 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA404267971 rs1423742581 |
211 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1423742581 CA404267977 |
211 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs938395919 CA305493951 |
213 | D>A | No |
ClinGen TOPMed |
|
|
rs938395919 CA305493952 |
213 | D>G | No |
ClinGen TOPMed |
|
|
rs1056736072 CA305493954 |
218 | A>P | No |
ClinGen Ensembl |
|
|
CA404268962 rs1321788478 |
224 | V>G | No |
ClinGen TOPMed |
|
|
CA9232006 rs775597355 COSM326374 |
224 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768858196 CA305493957 |
226 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768858196 CA9232007 |
226 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404269021 rs1220751647 |
228 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3822023 CA404269056 rs1397068324 |
230 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs761897886 CA9232009 |
230 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA305493959 rs747542547 |
232 | Q>P | No |
ClinGen Ensembl |
|
|
rs1297337553 CA404269138 |
233 | F>V | No |
ClinGen TOPMed |
|
|
CA404269154 rs1381013320 |
234 | V>F | No |
ClinGen gnomAD |
|
|
rs899465335 CA305493960 |
239 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs79843600 CA9232014 |
240 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404269371 rs1445144208 |
244 | I>S | No |
ClinGen gnomAD |
|
|
rs140320292 CA9232017 |
247 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757802847 CA9232016 |
247 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179091197 CA404269425 |
249 | A>S | No |
ClinGen gnomAD |
|
|
CA404269423 rs1179091197 |
249 | A>T | No |
ClinGen gnomAD |
|
|
rs1157218789 CA404269447 |
250 | E>G | No |
ClinGen gnomAD |
|
|
rs768983249 CA9232022 |
251 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404269464 rs768983249 |
251 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404269474 rs1466663343 |
252 | V>I | No |
ClinGen gnomAD |
|
|
CA404269504 rs1452556115 |
253 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9232023 rs781485261 |
253 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404269574 rs1305543638 |
255 | E>V | No |
ClinGen gnomAD |
|
|
CA9232042 rs769772287 |
256 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA305493980 VAR_027378 rs15389 |
258 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1356691973 CA404269624 |
259 | S>F | No |
ClinGen TOPMed |
|
|
rs749242017 CA9232044 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759306586 CA9232047 |
264 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337243889 CA404269724 |
267 | K>M | No |
ClinGen TOPMed |
|
|
CA9232050 rs559713739 |
269 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404269742 rs1408567685 |
269 | T>P | No |
ClinGen gnomAD |
|
|
rs1350845585 CA404269771 |
271 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9232051 rs763521532 |
272 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9232055 rs752066066 |
276 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568388845 CA404269851 |
277 | S>F | No |
ClinGen Ensembl |
|
|
CA9232058 rs767930752 |
278 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9232057 rs375101809 |
278 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1323317115 CA404269858 |
279 | A>T | No |
ClinGen gnomAD |
|
|
CA9232059 rs375883546 |
280 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA305493985 rs375883546 |
280 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305493987 rs866251263 |
281 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9232061 rs777783367 |
281 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9232063 rs150985454 |
282 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142642923 CA404269876 |
282 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404269907 COSM3822024 rs1474678539 |
284 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1286615636 CA404269935 |
286 | R>* | No |
ClinGen gnomAD |
|
|
rs778842661 CA9232064 |
286 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404270001 rs1425963270 |
290 | E>V | No |
ClinGen gnomAD |
|
|
rs776041118 CA9232069 |
292 | G>D | No |
ClinGen ExAC |
|
|
rs1303399988 CA404270048 |
293 | L>P | No |
ClinGen gnomAD |
|
|
rs1303399988 CA404270050 |
293 | L>R | No |
ClinGen gnomAD |
|
|
CA404270091 rs1438193575 |
295 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1243574081 CA404270103 |
296 | A>T | No |
ClinGen gnomAD |
|
|
rs775006544 CA9232072 |
297 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9232074 rs768055784 |
300 | L>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with O75792
[MIM: 610333]: Aicardi-Goutieres syndrome 4 (AGS4)
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:17846997, ECO:0000269|PubMed:20131292}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269|PubMed:16845400, ECO:0000269|PubMed:17846997, ECO:0000269|PubMed:20131292}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O75792
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ribonuclease HII/HIII domain | 28 - 250 | IPR024567 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.26.4 | Endoribonucleases producing 5'-phosphomonoesters |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ribonuclease H2 complex | A protein complex that possesses ribonuclease H activity, in which the catalytic subunit is a member of the RNase H2 (or HII) class. For example, in Saccharomyces the complex contains Rnh201p, Rnh202p and Rnh203p. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| ribonuclease activity | Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA-DNA hybrid ribonuclease activity | Catalysis of the endonucleolytic cleavage of RNA in RNA-DNA hybrids to 5'-phosphomonoesters. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| DNA replication, removal of RNA primer | Removal of the Okazaki RNA primer from the lagging strand of replicating DNA, by a combination of the actions of DNA polymerase, DNA helicase and an endonuclease. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9SEZ6 | At2g25100 | Ribonuclease H2 subunit A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLSELERDN | TGRCRLSSPV | PAVCRKEPCV | LGVDEAGRGP | VLGPMVYAIC | YCPLPRLADL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EALKVADSKT | LLESERERLF | AKMEDTDFVG | WALDVLSPNL | ISTSMLGRVK | YNLNSLSHDT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATGLIQYALD | QGVNVTQVFV | DTVGMPETYQ | ARLQQSFPGI | EVTVKAKADA | LYPVVSAASI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CAKVARDQAV | KKWQFVEKLQ | DLDTDYGSGY | PNDPKTKAWL | KEHVEPVFGF | PQFVRFSWRT |
| 250 | 260 | 270 | 280 | 290 | |
| AQTILEKEAE | DVIWEDSASE | NQEGLRKITS | YFLNEGSQAR | PRSSHRYFLE | RGLESATSL |