Q5T2D3
Gene name |
OTUD3 (KIAA0459) |
Protein name |
OTU domain-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23252 |
EC number |
3.4.19.12: Omega peptidases |
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 Q5T2D3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4BOU | X-ray | 155 A | A | 52-209 | PDB |
| AF-Q5T2D3-F1 | Predicted | AlphaFoldDB |
313 variants for Q5T2D3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA338812770 rs1362089965 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs1229056894 CA338812803 |
7 | A>V | No |
ClinGen TOPMed |
|
|
rs1226643525 CA338812871 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1414246478 CA338812883 |
11 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338812932 rs1423055462 |
12 | G>D | No |
ClinGen gnomAD |
|
|
CA338812922 rs1168765870 |
12 | G>S | No |
ClinGen gnomAD |
|
|
rs868459140 CA18895374 |
13 | S>N | No |
ClinGen gnomAD |
|
|
CA338812976 rs1447940303 |
14 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338812981 rs1303853819 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA338812977 rs1447940303 |
14 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338812985 rs1303853819 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA18895382 rs931132257 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA18895376 rs919782580 |
16 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA338813067 rs1275872757 |
18 | A>D | No |
ClinGen gnomAD |
|
|
CA18895383 rs1037887199 |
19 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA338813084 rs1316783281 |
19 | E>K | No |
ClinGen gnomAD |
|
|
rs201163171 CA657402 |
22 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338813204 rs1440691963 |
22 | R>S | No |
ClinGen gnomAD |
|
|
CA338813255 rs1191814308 |
24 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA18895401 rs901939041 |
25 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs901939041 CA338813277 |
25 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA338813336 rs1172996079 |
26 | E>G | No |
ClinGen gnomAD |
|
|
CA18895415 rs1046725375 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA657405 rs773380225 |
30 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763528887 CA657406 |
31 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA338813587 rs1295982214 |
36 | E>D | No |
ClinGen gnomAD |
|
|
CA338813576 rs569453344 |
36 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA18895435 rs569453344 |
36 | E>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA657407 rs530190493 |
37 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530190493 CA338813593 |
37 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338813608 rs1271485706 |
38 | R>P | No |
ClinGen gnomAD |
|
|
rs372907505 CA18895446 |
40 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 40 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338813647 rs1218616848 |
41 | P>S | Variant assessed as Somatic; 0.0001332 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA18895454 rs1011691217 |
42 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA657411 rs760142848 |
44 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18895476 rs1002556955 |
46 | G>V | No |
ClinGen TOPMed |
|
|
CA338813756 rs1462394691 |
48 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1195569769 CA338813772 |
49 | C>Y | No |
ClinGen gnomAD |
|
|
rs1225949888 CA338813816 |
52 | E>* | No |
ClinGen TOPMed |
|
|
CA338813819 rs1253386239 |
52 | E>V | No |
ClinGen TOPMed |
|
|
CA657413 rs753480211 |
58 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338813898 rs1334476801 |
58 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338813918 rs1397369308 |
59 | Q>H | No |
ClinGen gnomAD |
|
|
rs1181902287 CA338813912 |
59 | Q>R | No |
ClinGen TOPMed |
|
|
CA338813927 rs1433367698 |
60 | L>R | No |
ClinGen gnomAD |
|
|
CA338813938 rs1426608625 |
61 | Q>H | No |
ClinGen TOPMed |
|
|
CA338813974 rs1343527624 |
65 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA338813990 rs1419980146 |
66 | K>N | No |
ClinGen gnomAD |
|
|
rs1557671204 CA338814043 |
71 | P>L | No |
ClinGen Ensembl |
|
|
rs778776410 CA657415 |
72 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA338814050 rs778776410 |
72 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA657431 rs760240630 |
76 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs763594833 CA657432 |
77 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1471337669 CA338815455 |
78 | F>L | No |
ClinGen gnomAD |
|
|
rs776054462 CA657433 |
80 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA338815469 rs1388056357 |
81 | L>V | No |
ClinGen gnomAD |
|
|
CA338815526 rs1463662899 |
89 | S>P | No |
ClinGen gnomAD |
|
|
CA657435 rs536348725 |
90 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA657437 rs758098056 COSM1719835 |
90 | R>Q | Variant assessed as Somatic; 9.277e-05 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 90 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338815535 rs1247127060 |
91 | N>D | No |
ClinGen gnomAD |
|
|
rs1428870221 CA338815556 |
94 | K>E | No |
ClinGen gnomAD |
|
|
rs889427048 CA18902300 COSM1185355 |
94 | K>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1371669730 CA338815567 |
95 | H>R | No |
ClinGen TOPMed |
|
|
CA18902303 rs199573234 |
97 | Q>E | No |
ClinGen Ensembl |
|
|
CA657439 rs751538309 |
97 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs554603015 CA657440 |
98 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338815584 rs554603015 |
98 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338815596 rs1282652331 |
99 | T>I | No |
ClinGen gnomAD |
|
|
CA338815624 CA657441 rs190906083 |
103 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338815622 rs1304562040 |
103 | M>T | No |
ClinGen TOPMed |
|
|
CA18902319 rs1010593765 |
103 | M>V | No |
ClinGen Ensembl |
|
|
CA657442 rs540260034 |
104 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338815626 rs1361184228 |
104 | I>V | No |
ClinGen Ensembl |
|
|
rs1275175684 CA338815649 |
107 | R>Q | No |
ClinGen gnomAD |
|
|
rs765352475 CA18902323 |
107 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338815721 rs1198602571 |
117 | D>N | No |
ClinGen gnomAD |
|
|
CA657444 rs777824446 |
119 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1439931366 CA338815742 |
120 | F>V | No |
ClinGen gnomAD |
|
|
CA338815770 rs771190012 |
123 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472289671 CA338815772 |
124 | V>M | No |
ClinGen gnomAD |
|
|
rs1315021274 CA338815797 |
126 | S>G | No |
ClinGen gnomAD |
|
|
CA18904927 rs966283051 |
131 | G>A | No |
ClinGen TOPMed |
|
|
rs1440893087 CA338815849 |
133 | F>S | No |
ClinGen TOPMed |
|
|
CA338815897 rs1366428667 |
136 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1309301545 CA338815906 |
137 | D>Y | No |
ClinGen gnomAD |
|
|
CA338815925 rs1426161084 |
138 | A>E | No |
ClinGen TOPMed |
|
|
rs1255872577 CA338815940 |
139 | I>T | No |
ClinGen gnomAD |
|
|
rs778112027 CA657461 |
139 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1346169418 CA338815949 |
140 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163836353 CA338815966 |
141 | A>D | No |
ClinGen TOPMed |
|
|
CA657463 rs757436022 |
143 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1487139882 CA338815996 |
143 | A>V | No |
ClinGen gnomAD |
|
|
rs375869805 CA18905019 |
144 | R>T | No |
ClinGen ESP TOPMed |
|
|
rs1330352962 CA338816021 |
145 | N>S | No |
ClinGen TOPMed |
|
|
CA338816070 rs1192457958 |
147 | Q>H | No |
ClinGen gnomAD |
|
|
rs779266574 CA657464 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA338816132 rs1429729097 |
152 | I>S | No |
ClinGen gnomAD |
|
|
CA18905033 rs935697141 |
155 | L>F | No |
ClinGen Ensembl |
|
|
rs565425521 CA18905047 |
156 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 156 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746185753 CA657465 |
157 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA657466 rs772599029 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1175353265 CA338816210 |
158 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775945726 CA657467 |
161 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA338816818 rs371092366 |
162 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18907746 rs917426897 |
162 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA657498 rs760544978 |
163 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338816823 rs764047355 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764047355 CA657499 |
163 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18907772 rs528426495 |
165 | T>A | No |
ClinGen gnomAD |
|
|
CA338816895 rs1265198806 |
168 | S>N | No |
ClinGen gnomAD |
|
|
CA338816902 rs1463037708 |
169 | S>G | No |
ClinGen gnomAD |
|
|
CA338816908 rs1557678411 |
169 | S>T | No |
ClinGen Ensembl |
|
|
CA338816917 rs1400126100 |
170 | V>M | No |
ClinGen gnomAD |
|
|
CA657501 rs544797762 |
171 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs976293809 CA18907807 |
172 | E>* | No |
ClinGen Ensembl |
|
|
CA657503 rs375390419 |
174 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377403155 CA338816990 |
175 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199964779 CA657506 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA657505 rs780294087 |
178 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA657507 rs200380749 |
179 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234431674 CA338817026 |
180 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338817052 rs1345407310 |
183 | Y>C | No |
ClinGen gnomAD |
|
|
rs770547354 CA657510 COSM902304 |
184 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs370880245 CA657511 |
185 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771796005 CA657513 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA657512 COSM378865 rs745517322 |
187 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA657514 rs775175554 |
188 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1390689297 CA338817087 |
189 | I>V | No |
ClinGen gnomAD |
|
|
rs1357808290 CA338817094 |
190 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1357808290 CA338817092 |
190 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201938614 CA338817096 |
190 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201938614 CA657515 |
190 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1291184609 CA338817114 |
192 | N>K | No |
ClinGen TOPMed |
|
|
CA338817117 rs1285721870 |
193 | S>A | No |
ClinGen gnomAD |
|
|
rs768516517 CA657516 |
193 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776608771 CA657517 |
196 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657519 rs765297375 |
200 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA338817163 rs1360618637 |
200 | Q>R | No |
ClinGen gnomAD |
|
|
CA657520 rs773217184 |
201 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773217184 CA18907933 |
201 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs766583675 CA657522 |
202 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759880608 CA657542 |
205 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767927110 CA657543 |
209 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA338817866 rs1319788751 |
210 | E>G | No |
ClinGen gnomAD |
|
|
rs992476206 CA18911577 |
211 | S>T | No |
ClinGen gnomAD |
|
|
rs753050918 CA657544 |
212 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA338817906 rs1295417793 |
216 | K>E | No |
ClinGen TOPMed |
|
|
CA657546 rs764658974 |
217 | I>T | No |
ClinGen ExAC |
|
| TCGA novel | 218 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237607770 CA338817935 |
220 | K>E | No |
ClinGen gnomAD |
|
|
rs1420465997 CA338817939 |
220 | K>N | No |
ClinGen gnomAD |
|
|
rs1288705222 CA338817941 |
221 | G>R | No |
ClinGen Ensembl |
|
|
CA657547 rs749998612 |
222 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA657548 rs757904396 |
223 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA657549 rs779631390 |
224 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA18911613 rs61750789 |
227 | D>A | No |
ClinGen Ensembl |
|
|
CA338817988 rs1472017924 |
227 | D>E | No |
ClinGen TOPMed |
|
|
CA657551 COSM182650 rs754522313 |
227 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 232 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942067693 CA18911616 |
233 | E>D | No |
ClinGen Ensembl |
|
|
rs941063477 CA18911631 |
235 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA657553 rs780985847 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657554 rs546445307 |
238 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA657555 rs769762740 |
240 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1425193576 CA338818079 |
241 | N>D | No |
ClinGen TOPMed |
|
|
rs1364728150 CA338818090 |
242 | A>V | No |
ClinGen gnomAD |
|
|
CA657556 rs142250482 |
243 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA18911673 rs142250482 |
243 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338818126 rs1311291528 |
247 | D>N | No |
ClinGen gnomAD |
|
|
rs1355140013 CA338818139 |
248 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1355140013 CA338818138 |
248 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1295255927 CA338818152 |
250 | L>* | No |
ClinGen gnomAD |
|
|
CA338818151 rs1415617984 |
250 | L>V | No |
ClinGen gnomAD |
|
|
CA338818160 rs1179798620 |
251 | I>T | No |
ClinGen gnomAD |
|
|
rs772465704 CA657581 |
251 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338818173 rs1227385846 |
253 | Q>R | No |
ClinGen gnomAD |
|
|
CA657584 rs769138536 |
256 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA657585 rs186008071 |
260 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557681615 CA338818220 |
260 | Y>H | No |
ClinGen Ensembl |
|
|
rs762397335 CA657586 |
261 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs564836449 CA657587 |
262 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA18912003 rs1000574528 |
262 | I>V | No |
ClinGen Ensembl |
|
|
rs751120284 CA657588 |
263 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373505532 CA338818253 |
265 | A>S | No |
ClinGen gnomAD |
|
|
rs767214580 CA657590 |
266 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA657589 rs758946019 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374603657 CA338818268 |
267 | I>M | No |
ClinGen gnomAD |
|
|
CA18912038 rs61752515 |
268 | A>P | No |
ClinGen Ensembl |
|
|
CA657591 rs752338966 |
268 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657593 rs200790645 |
269 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA657594 rs532238566 |
270 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA657595 rs532238566 |
270 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369009180 CA657598 |
271 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA657599 rs372656324 |
271 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA657597 rs369009180 |
271 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571183279 CA338818284 |
272 | M>L | No |
ClinGen Ensembl |
|
|
rs1395869858 CA338818298 |
273 | N>S | No |
ClinGen TOPMed |
|
|
CA338818303 rs1211180738 |
274 | Q>* | No |
ClinGen gnomAD |
|
|
rs1489042204 CA338818490 |
279 | N>K | No |
ClinGen TOPMed |
|
|
CA338818501 rs1365626813 |
280 | A>G | No |
ClinGen gnomAD |
|
|
CA338818503 rs1365626813 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA18913050 rs1054525313 |
283 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_087061 rs78466831 CA657619 |
288 | G>D | found in a family with an early age of onset of diabetes; unknown pathological significance; reduced the stability and catalytic activity [UniProt] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
CA657620 rs191701178 |
289 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA338818607 rs191701178 |
289 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338818612 rs781247080 |
289 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs781247080 CA657621 |
289 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA18913072 rs775608626 |
290 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA657622 rs200185091 |
290 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338818676 rs773554496 |
294 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA657625 rs564519845 |
296 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338818755 rs1223630841 |
302 | G>D | No |
ClinGen gnomAD |
|
|
rs377681109 CA338818764 |
303 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377681109 CA657627 |
303 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760149018 CA657628 |
304 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1207402468 CA338818793 |
305 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA657629 rs763859266 |
308 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776138793 CA657630 |
309 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA657631 rs761739384 |
310 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA338818975 rs1418642067 |
312 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764945746 CA657632 |
314 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs764945746 CA657633 |
314 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763007582 CA657634 |
315 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338819125 rs1557682294 |
317 | R>K | No |
ClinGen Ensembl |
|
|
rs1334271087 CA338819169 |
319 | E>D | No |
ClinGen TOPMed |
|
|
CA657638 rs755094105 |
319 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_051258 CA657640 rs2298110 |
321 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA18913209 rs201480887 |
323 | A>V | No |
ClinGen Ensembl |
|
|
rs562238027 CA18913224 |
326 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA18913246 rs879357470 COSM1260728 |
327 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA657642 rs370284415 |
327 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778017549 CA657643 |
328 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373747321 CA18913260 |
329 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA657645 rs771465521 |
332 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA657646 rs10916668 VAR_051259 |
333 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA338820393 rs1557682370 |
335 | K>E | No |
ClinGen Ensembl |
|
|
rs1185303854 CA338820455 |
338 | L>F | No |
ClinGen gnomAD |
|
|
rs372327524 CA657648 |
339 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422253999 CA338820490 |
339 | A>V | No |
ClinGen gnomAD |
|
|
rs199687893 CA657669 |
341 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338820632 rs1222260015 |
342 | T>P | No |
ClinGen gnomAD |
|
|
CA338820658 rs1283704262 |
343 | N>K | No |
ClinGen gnomAD |
|
|
CA338820663 rs1317541099 |
344 | K>E | No |
ClinGen gnomAD |
|
|
CA18913935 rs984516768 |
344 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs928634921 CA18913939 |
346 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762905488 CA338820687 |
347 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657673 rs762905488 |
347 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61752512 CA657674 |
347 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338820710 rs1315202761 |
350 | Q>R | No |
ClinGen TOPMed |
|
|
rs1406640367 CA338820730 |
352 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1571186940 CA338820725 |
352 | M>V | No |
ClinGen Ensembl |
|
|
CA338820742 rs1161293648 |
354 | K>E | No |
ClinGen gnomAD |
|
|
CA338820750 rs1272104318 |
355 | K>E | No |
ClinGen TOPMed |
|
|
rs759414328 CA657677 |
356 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657679 rs775470797 |
357 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA657678 rs369363412 |
357 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76871606 CA657681 |
359 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs760784127 CA657680 |
359 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338820836 rs1279124834 |
360 | E>G | No |
ClinGen gnomAD |
|
|
CA18913973 rs74812179 |
361 | R>S | No |
ClinGen Ensembl |
|
|
rs1374151992 CA338820868 CA338820869 |
362 | H>Q | No |
ClinGen gnomAD |
|
|
CA338820875 COSM182651 rs1230382652 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA657682 rs754057060 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338820885 rs1482202797 |
364 | H>N | No |
ClinGen TOPMed |
|
|
rs1183588597 CA338820928 |
366 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338820940 rs1292503452 |
367 | L>P | No |
ClinGen gnomAD |
|
|
CA338820936 rs1214826186 |
367 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338820955 rs1436386099 |
368 | E>G | No |
ClinGen gnomAD |
|
|
CA657684 rs765599979 |
369 | S>N | No |
ClinGen ExAC |
|
|
CA657685 rs750741388 COSM4143231 |
370 | R>S | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs758864460 CA338821003 |
371 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657686 rs758864460 |
371 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338821036 rs1388498979 |
373 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA657687 rs780582583 |
374 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338821111 rs1183786718 |
377 | N>S | No |
ClinGen gnomAD |
|
|
CA657689 rs200725243 |
378 | R>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA657690 rs777349228 |
378 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs201731406 CA657691 |
379 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18914035 rs749721253 |
379 | S>N | No |
ClinGen Ensembl |
|
|
rs770657770 CA18914041 |
379 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18914054 rs1039993167 |
380 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs901521084 CA18914073 |
381 | A>T | No |
ClinGen Ensembl |
|
|
rs745643567 CA657694 |
383 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA657693 rs774317957 |
383 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs745643567 CA657695 |
383 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760734059 CA657697 |
384 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA657699 rs764163900 |
384 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs373018769 CA657700 |
385 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA657702 rs375063759 |
386 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA657703 rs768806192 |
387 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA18914134 rs533389856 |
388 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1228705673 CA338821307 |
390 | V>L | No |
ClinGen TOPMed |
|
|
CA657705 rs199722871 |
394 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA657706 rs755482174 |
394 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs142918335 CA657708 |
395 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142918335 CA18914172 |
395 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA338821375 rs1383373551 |
396 | L>V | No |
ClinGen Ensembl |
|
|
CA657709 rs757008985 |
398 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs757008985 CA657710 |
398 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA338821419 rs757008985 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | I>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q5T2D3
No regional properties for Q5T2D3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5T2D3 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K11-linked deubiquitination | A protein deubiquitination process in which a K11-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 11 of the ubiquitin monomers, is removed from a protein. |
| protein K27-linked deubiquitination | A protein deubiquitination process in which a K27-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 27 of the ubiquitin monomers, is removed from a protein. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
| protein K6-linked deubiquitination | A protein deubiquitination process in which a K6-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 6 of the ubiquitin monomers, is removed from a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96G74 | OTUD5 | OTU domain-containing protein 5 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRKQAAKSR | PGSGSRKAEA | ERKRDERAAR | RALAKERRNR | PESGGGGGCE | EEFVSFANQL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QALGLKLREV | PGDGNCLFRA | LGDQLEGHSR | NHLKHRQETV | DYMIKQREDF | EPFVEDDIPF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKHVASLAKP | GTFAGNDAIV | AFARNHQLNV | VIHQLNAPLW | QIRGTEKSSV | RELHIAYRYG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EHYDSVRRIN | DNSEAPAHLQ | TDFQMLHQDE | SNKREKIKTK | GMDSEDDLRD | EVEDAVQKVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NATGCSDFNL | IVQNLEAENY | NIESAIIAVL | RMNQGKRNNA | EENLEPSGRV | LKQCGPLWEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GGSGARIFGN | QGLNEGRTEN | NKAQASPSEE | NKANKNQLAK | VTNKQRREQQ | WMEKKKRQEE |
| 370 | 380 | 390 | |||
| RHRHKALESR | GSHRDNNRSE | AEANTQVTLV | KTFAALNI |