O00584
Gene name |
RNASET2 (RNASE6PL) |
Protein name |
Ribonuclease T2 |
Names |
CXC-R6, CXCR-6, CDw186, G-protein coupled receptor STRL33, G-protein coupled receptor bonzo, Ribonuclease 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8635 |
EC number |
4.6.1.19: Phosphorus-oxygen lyases |
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
2 structures for O00584
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3T0O | X-ray | 159 A | A | 25-256 | PDB |
| AF-O00584-F1 | Predicted | AlphaFoldDB |
257 variants for O00584
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000377846 rs886061241 |
1 | M>missing | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001095751 CA151911997 rs911168436 CA366408504 |
8 | G>R | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs1583242286 RCV000000444 |
17 | A>missing | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196499 rs372273901 CA4095183 RCV001876274 |
44 | P>L | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001154608 CA4095108 RCV000960534 rs115956642 |
72 | S>G | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000315978 CA10623422 rs886061240 |
75 | C>Y | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1434250650 RCV001254880 |
78 | S>* | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4095054 RCV000277212 rs780445402 |
109 | R>S | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000331283 CA4095016 COSM207725 rs117003826 |
127 | A>V | large_intestine Cystic leukoencephalopathy without megalencephaly [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA114257 VAR_063596 rs121918137 RCV000000440 |
184 | C>R | Cystic leukoencephalopathy without megalencephaly LCWM; the loss of a disulfide bond may affect protein folding and stability; the protein is retained in the endoplasmic reticulum and the mitochondria while lysosomal localization is disrupted [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001151596 rs759190975 CA4094867 |
188 | S>I | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344128 rs137968522 RCV002547003 CA4094836 |
204 | T>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000439457 RCV000309087 CA4094831 rs41269593 |
215 | E>K | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4094825 RCV000362169 rs202105909 |
218 | E>K | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1582968 CA4094806 RCV000888819 RCV001157007 rs146590748 |
236 | R>Q | Cystic leukoencephalopathy without megalencephaly meninges [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000305139 rs11159 RCV001515723 VAR_013004 CA4094807 |
236 | R>W | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763295910 RCV000501289 |
238 | L>missing | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4094803 rs140357917 RCV000400857 RCV000892106 |
247 | F>L | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759625896 RCV001004878 CA4094800 |
250 | P>S | Cystic leukoencephalopathy without megalencephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1175946131 CA366408537 |
2 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1175946131 CA366408536 |
2 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366408527 rs1481833205 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA4095208 rs748455635 |
3 | P>S | No |
ClinGen ExAC |
|
|
rs1233809644 CA366408526 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs1460580760 CA366408518 |
5 | A>D | No |
ClinGen gnomAD |
|
|
rs778738197 CA366408519 |
5 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778738197 CA4095207 |
5 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224852048 CA366408512 |
6 | L>P | No |
ClinGen gnomAD |
|
|
rs1396968925 CA366408499 |
9 | A>T | No |
ClinGen TOPMed |
|
|
CA366408496 rs1309064255 |
9 | A>V | No |
ClinGen TOPMed |
|
|
CA366408485 rs1330045184 |
11 | L>P | No |
ClinGen Ensembl |
|
|
CA366408476 rs1452254618 |
13 | C>R | No |
ClinGen gnomAD |
|
|
rs1404148222 CA366408467 |
14 | L>F | No |
ClinGen gnomAD |
|
|
CA366408460 rs1466640652 |
15 | C>Y | No |
ClinGen gnomAD |
|
|
rs1157636131 CA366408451 |
16 | L>R | No |
ClinGen gnomAD |
|
|
rs1381369582 CA366408447 |
17 | A>V | No |
ClinGen gnomAD |
|
|
CA366408433 rs1183333234 |
19 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311705015 CA366408427 |
20 | C>S | No |
ClinGen TOPMed |
|
|
CA151911979 rs62436422 |
21 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs62436422 CA366408423 |
21 | L>V | No |
ClinGen gnomAD |
|
|
CA366408417 rs1240909002 |
22 | G>C | No |
ClinGen gnomAD |
|
|
rs767378195 CA4095201 |
23 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767378195 CA366408410 |
23 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA366408408 rs1483293081 |
24 | A>T | No |
ClinGen gnomAD |
|
|
rs761630857 CA4095200 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484231577 CA366408397 |
25 | D>E | No |
ClinGen TOPMed |
|
|
rs1318633889 CA366408391 |
26 | K>R | No |
ClinGen gnomAD |
|
|
CA366408384 rs1219282301 |
27 | R>H | No |
ClinGen Ensembl |
|
|
CA366408386 rs1183952977 |
27 | R>S | No |
ClinGen TOPMed |
|
|
rs371907141 CA4095196 |
28 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs903854377 CA151911921 |
29 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768898749 CA366408345 |
31 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779460565 CA4095188 |
31 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4095185 rs375297629 |
32 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542520182 CA4095186 |
32 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA151908216 TCGA novel rs928399690 |
34 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
| rs1268218510 | 36 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4095184 rs755657092 |
39 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164177909 CA366408291 |
39 | M>L | No |
ClinGen gnomAD |
|
|
rs1372179117 CA366408282 |
40 | V>A | No |
ClinGen gnomAD |
|
|
CA151908187 rs867764276 |
43 | W>L | No |
ClinGen Ensembl |
|
| TCGA novel | 45 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774446299 CA151908170 |
46 | T>A | No |
ClinGen Ensembl |
|
|
CA366408232 rs1478525897 |
47 | V>G | No |
ClinGen gnomAD |
|
|
rs1467494028 CA366408237 |
47 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1467494028 CA366408235 |
47 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366408231 rs919595149 |
48 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA151908164 rs919595149 |
48 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366408230 rs919595149 |
48 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781133215 CA366408225 |
48 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757238716 CA4095181 COSM1642948 |
49 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750669368 CA4095156 |
52 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761924699 CA366408070 |
54 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4095154 rs761924699 |
54 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258289810 CA366408014 |
58 | P>L | No |
ClinGen TOPMed |
|
|
rs1424507603 CA366408010 |
59 | P>A | No |
ClinGen TOPMed |
|
|
rs561514741 CA4095153 |
59 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 62 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993184078 CA151904151 |
63 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs993184078 CA366407959 |
63 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763394312 CA4095151 |
65 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1242789738 CA366407929 COSM3410784 |
68 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1278713421 CA366407906 |
69 | P>L | No |
ClinGen gnomAD |
|
|
CA4095109 rs754155291 |
70 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760285467 CA4095106 |
74 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs760285467 CA151902266 |
74 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1253547373 CA366407864 |
76 | N>D | No |
ClinGen TOPMed |
|
|
rs1178939961 CA366407861 |
76 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434250650 CA366407844 |
78 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771496431 CA4095104 |
79 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA366407817 rs1441873284 |
82 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4095103 rs761320310 |
83 | L>* | No |
ClinGen ExAC |
|
|
CA366407812 rs1239628395 |
83 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1239628395 CA366407813 |
83 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1198825632 CA366407807 |
84 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4095100 rs749214203 |
85 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4095101 rs768664056 |
85 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768664056 CA4095102 |
85 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4095099 rs780031338 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769621975 CA4095098 |
87 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA366407788 rs769621975 |
87 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA366407094 rs1387040789 |
88 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751250162 CA4095065 |
92 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs987564260 CA151898075 |
93 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249286606 CA366407044 |
95 | A>V | No |
ClinGen TOPMed |
|
|
CA366407038 rs1280410103 |
96 | Y>C | No |
ClinGen gnomAD |
|
|
CA4095064 rs763751033 |
96 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4095062 rs367656044 |
97 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4095063 rs762498853 |
97 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4095061 rs772187999 |
99 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4095059 rs529169150 |
100 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201959434 CA4095058 |
103 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366406973 rs1326095554 |
106 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs993877408 CA366406971 |
106 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA151898039 rs993877408 |
106 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4095056 rs774543357 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4095055 rs149426644 |
107 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366406962 rs1199281718 |
108 | S>C | No |
ClinGen gnomAD |
|
|
CA4095053 rs780445402 |
109 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4095052 rs374162593 |
109 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs931339513 CA151894654 |
111 | W>* | No |
ClinGen TOPMed |
|
|
CA366406912 rs1362425214 |
113 | H>P | No |
ClinGen TOPMed |
|
|
CA366406900 rs1421687402 |
115 | W>R | No |
ClinGen TOPMed |
|
|
CA4095026 rs754432508 |
116 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4095024 rs763195467 |
118 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285213280 CA366406866 |
119 | G>R | No |
ClinGen gnomAD |
|
|
CA4095020 rs763299296 |
122 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769927092 CA4095018 |
123 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366406770 rs1562497492 |
126 | D>G | No |
ClinGen Ensembl |
|
|
CA151894596 rs117003826 |
127 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366406729 COSM1672970 rs1286334837 |
129 | N>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1299915529 CA366406719 |
130 | S>Y | No |
ClinGen gnomAD |
|
| rs781239107 | 133 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778325234 CA4095013 |
133 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366406279 rs1418731772 |
135 | F>C | No |
ClinGen gnomAD |
|
|
CA4095010 rs747895403 |
137 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1476861062 CA366406255 |
137 | R>K | No |
ClinGen gnomAD |
|
|
CA151894537 rs1031105313 |
138 | S>N | No |
ClinGen Ensembl |
|
|
rs1208036022 CA366406234 |
139 | L>P | No |
ClinGen TOPMed |
|
|
CA366406237 rs1426418231 |
139 | L>V | No |
ClinGen gnomAD |
|
|
CA4095009 rs778373009 |
140 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200217470 CA4095008 |
141 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779517174 CA4095006 |
141 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs200217470 CA4095007 |
141 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756083307 CA4095005 |
142 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA151894514 rs977121991 |
145 | L>R | No |
ClinGen TOPMed |
|
|
rs968384342 CA151894507 |
146 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200521055 CA151894500 |
149 | S>I | No |
ClinGen 1000Genomes |
|
|
CA4094904 rs771231451 |
150 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771231451 CA4094903 |
150 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281450125 CA366409787 |
151 | L>F | No |
ClinGen gnomAD |
|
|
CA4094901 rs564700188 |
152 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366409778 rs564700188 |
152 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366409752 rs1240582231 |
156 | I>R | No |
ClinGen gnomAD |
|
|
rs758461719 CA4094900 |
158 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1394189622 CA366409731 |
159 | S>F | No |
ClinGen gnomAD |
|
|
rs199674368 CA366409719 |
161 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199674368 COSM3697668 CA4094897 |
161 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA366409702 rs1190588643 |
163 | Y>* | No |
ClinGen TOPMed |
|
|
rs1418823672 CA366409700 |
164 | Q>K | No |
ClinGen gnomAD |
|
|
CA366409524 rs1244167002 |
165 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1244167002 CA366409527 |
165 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366409500 rs1233095538 |
167 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756845295 CA4094874 |
167 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151950134 rs867548038 |
168 | F>C | No |
ClinGen Ensembl |
|
|
CA366409497 rs1447243603 |
168 | F>L | No |
ClinGen gnomAD |
|
|
rs1211284477 CA366409485 |
169 | K>E | No |
ClinGen gnomAD |
|
|
rs1298997016 CA366409480 |
169 | K>I | No |
ClinGen TOPMed |
|
|
rs1273796776 CA366409470 |
170 | D>G | No |
ClinGen gnomAD |
|
|
CA366409474 rs1336225419 |
170 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 170 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366409458 rs1217929196 |
171 | A>G | No |
ClinGen gnomAD |
|
|
CA366409452 rs1359654764 |
172 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937734336 COSM1075930 CA151950123 |
173 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA366409432 rs1330770810 |
174 | R>T | No |
ClinGen gnomAD |
|
|
rs1562493291 CA366409420 |
175 | V>A | No |
ClinGen Ensembl |
|
|
rs1315470043 CA366409425 |
175 | V>I | No |
ClinGen TOPMed |
|
|
CA4094872 rs763663043 |
177 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395310183 CA366409391 |
178 | V>A | No |
ClinGen gnomAD |
|
|
CA366409395 rs1239284254 |
178 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366409375 rs1468475059 |
180 | P>S | No |
ClinGen TOPMed |
|
|
CA366409328 rs930821082 |
184 | C>* | No |
ClinGen gnomAD |
|
|
CA151950083 rs930821082 |
184 | C>W | No |
ClinGen gnomAD |
|
|
rs752566896 CA4094870 |
185 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752566896 CA366409326 |
185 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434152025 CA366409304 |
187 | P>R | No |
ClinGen TOPMed |
|
|
CA4094868 rs759190975 |
188 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366409285 rs1245786090 |
189 | Q>R | No |
ClinGen gnomAD |
|
|
rs774496285 CA4094841 |
193 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764236556 CA151949056 |
194 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366408940 rs1360372731 |
196 | I>T | No |
ClinGen TOPMed |
|
|
CA4094839 rs762901010 |
197 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA151949046 rs926185419 |
198 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366408921 rs1175562744 |
199 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA151949039 rs974396478 |
200 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs776087270 CA4094837 |
201 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366408870 rs1583212057 |
207 | D>A | No |
ClinGen Ensembl |
|
|
CA4094835 rs746342225 |
207 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373290604 CA151949025 |
208 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA366408821 rs777199814 |
214 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4094834 rs777199814 |
214 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41269593 CA4094832 |
215 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4094829 rs200901770 |
216 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4094830 rs200901770 |
216 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4094826 rs753772218 |
217 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366408801 rs202105909 |
218 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4094824 rs755838611 |
218 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA366408795 rs1354145190 |
219 | Q>E | No |
ClinGen gnomAD |
|
|
CA366408783 rs751838276 |
220 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4094823 rs751838276 |
220 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs35716361 CA4094821 |
221 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366408781 rs1583211964 |
221 | S>P | No |
ClinGen Ensembl |
|
|
CA4094820 rs35716361 RCV000884362 |
221 | S>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765400725 CA4094819 |
222 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149106779 CA366408769 |
223 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149106779 CA4094817 |
223 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149106779 CA366408770 |
223 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4094816 rs145013301 |
227 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366408736 rs1415604749 |
228 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 228 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244702124 CA366408719 |
230 | N>K | No |
ClinGen TOPMed |
|
|
CA366408710 rs1583211909 |
232 | A>P | No |
ClinGen Ensembl |
|
|
CA151948909 rs1047556452 |
233 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs149922066 CA4094814 |
233 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000956442 rs149922066 CA4094813 |
233 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4094810 rs754474033 |
234 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199823417 CA4094809 |
235 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366408682 rs1340354301 |
237 | G>A | No |
ClinGen gnomAD |
|
|
CA4094805 rs767307679 |
237 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366408675 rs1583211839 |
239 | R>G | No |
ClinGen Ensembl |
|
|
CA151948846 rs539299924 |
242 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 244 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 244 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366408630 rs1363644149 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA366408616 rs1296660279 |
247 | F>C | No |
ClinGen TOPMed |
|
|
CA151948803 rs765446788 |
248 | Y>S | No |
ClinGen Ensembl |
|
|
CA366408602 rs1391650191 |
249 | P>L | No |
ClinGen gnomAD |
|
|
rs754430788 CA366408599 |
250 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4094799 rs754430788 |
250 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934916857 CA151948764 |
251 | P>S | No |
ClinGen gnomAD |
|
|
rs1430007208 CA366408572 |
254 | T>S | No |
ClinGen gnomAD |
|
|
CA4094798 rs766947293 |
255 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1455677556 CA366408563 |
256 | H>N | No |
ClinGen gnomAD |
|
|
rs773490411 CA4094796 |
256 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230977284 CA366408549 |
257 | H>C | No |
ClinGen TOPMed |
|
|
rs1230977284 CA366408550 |
257 | H>W | No |
ClinGen TOPMed |
No associated diseases with O00584
6 regional properties for O00584
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 270 - 278 | IPR000629 |
| domain | Helicase, C-terminal | 336 - 498 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 135 - 313 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 130 - 340 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 111 - 139 | IPR014014 |
| domain | DDX52/Rok1, DEAD-box helicase domain | 122 - 328 | IPR044764 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.6.1.19 | Phosphorus-oxygen lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| endoribonuclease activity | Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks. |
| ribonuclease activity | Catalysis of the hydrolysis of phosphodiester bonds in chains of RNA. |
| ribonuclease T2 activity | Catalysis of the two-stage endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotides with 2',3'-cyclic phosphate intermediates. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPAALRGAL | LGCLCLALLC | LGGADKRLRD | NHEWKKLIMV | QHWPETVCEK | IQNDCRDPPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YWTIHGLWPD | KSEGCNRSWP | FNLEEIKDLL | PEMRAYWPDV | IHSFPNRSRF | WKHEWEKHGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CAAQVDALNS | QKKYFGRSLE | LYRELDLNSV | LLKLGIKPSI | NYYQVADFKD | ALARVYGVIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIQCLPPSQD | EEVQTIGQIE | LCLTKQDQQL | QNCTEPGEQP | SPKQEVWLAN | GAAESRGLRV |
| 250 | |||||
| CEDGPVFYPP | PKKTKH |