Q96G74
PR
Gene name |
OTUD5 |
Protein name |
OTU domain-containing protein 5 |
Names |
Deubiquitinating enzyme A, DUBA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55593 |
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
4 structures for Q96G74
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3PFY | X-ray | 170 A | A | 172-344 | PDB |
| 3TMO | X-ray | 220 A | A | 172-351 | PDB |
| 3TMP | X-ray | 191 A | A/C/E/G | 172-351 | PDB |
| AF-Q96G74-F1 | Predicted | AlphaFoldDB |
203 variants for Q96G74
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_085336 | 161 | V>del | MCAND; reduced cleavage activity towards 'K-48'-chains but not 'K-63'-chains; no effect on phosphorylation [UniProt] | Yes | UniProt |
|
RCV001290731 rs2063984022 |
200 | E>K | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_085337 | 256 | D>N | MCAND; reduced cleavage activity towards 'K-63'- and 'K-48'-chains; no effect on phosphorylation [UniProt] | Yes | UniProt |
|
rs2063805506 RCV001290734 VAR_085338 |
274 | R>W | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked MCAND; partial mislocation at the cytoplasm; reduced cleavage activity towards 'K-63'- and 'K-48'-chains; no effect on phosphorylation [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs2063801903 RCV001290733 VAR_085339 |
352 | L>P | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked MCAND; in mice embryo the mutation is lethal; reduced cleavage activity towards 'K-48'-chains but not 'K-63'-chains; no effect on nuclear location; no effect on phosphorylation [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001290735 VAR_085340 rs2063659512 |
404 | R>W | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked MCAND; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001290732 rs2063620799 VAR_085341 |
494 | G>S | Multiple congenital anomalies-neurodevelopmental syndrome, X-linked MCAND; decreased mRNA and protein levels; no effect on cleavage activity towards 'K-48'-chains but not 'K-63'-chains; in mice embryo the mutation is lethal; no effect on phosphorylation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_085342 | 520 | R>W | MCAND; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA412905485 rs1295653938 RCV000577860 |
568 | P>T | Ependymoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA412921552 rs1557056013 |
2 | T>N | No |
ClinGen gnomAD |
|
|
rs1217097686 CA412921404 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs1191774507 CA412921324 |
14 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412921327 rs1191774507 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA412921304 rs1557055992 |
15 | D>A | No |
ClinGen Ensembl |
|
|
rs1237611363 CA412921259 |
17 | A>T | No |
ClinGen TOPMed |
|
|
rs1473411775 CA412921247 |
17 | A>V | No |
ClinGen TOPMed |
|
|
rs1184156079 CA412921214 |
18 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV001091499 CA412921174 rs1424375926 |
20 | P>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA10406633 rs782153790 |
20 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412921167 rs1159630006 |
21 | P>S | No |
ClinGen TOPMed |
|
|
CA412921092 rs1282309899 |
26 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1381985628 CA412921079 |
27 | P>S | No |
ClinGen TOPMed |
|
|
rs1240520653 CA412921049 |
29 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1351040237 CA412921042 |
30 | P>Q | No |
ClinGen TOPMed |
|
|
CA412921015 rs1602447003 |
31 | R>L | No |
ClinGen Ensembl |
|
|
rs1204254462 CA412921023 |
31 | R>W | No |
ClinGen TOPMed |
|
|
CA412920998 rs1602446993 |
32 | R>H | No |
ClinGen Ensembl |
|
|
rs1443693272 CA412920945 |
35 | G>V | No |
ClinGen TOPMed |
|
|
rs1602446941 CA412920942 |
36 | V>L | No |
ClinGen Ensembl |
|
|
CA412920904 rs1207448804 |
38 | V>G | No |
ClinGen TOPMed |
|
|
CA412920893 rs1444572727 |
39 | G>V | No |
ClinGen TOPMed |
|
|
rs1382622838 CA412920868 |
42 | G>C | No |
ClinGen TOPMed |
|
|
CA412920865 rs1557055935 |
42 | G>D | No |
ClinGen gnomAD |
|
|
rs781917316 CA10406631 |
45 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426161627 CA412920817 |
46 | G>A | No |
ClinGen TOPMed |
|
|
CA412920823 rs1158259015 |
46 | G>S | No |
ClinGen TOPMed |
|
|
rs781938462 CA10406630 |
47 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405190719 CA412920806 |
48 | G>S | No |
ClinGen TOPMed |
|
|
CA412920718 rs1557055901 |
54 | S>Y | No |
ClinGen gnomAD |
|
|
rs1557055896 CA412920689 |
57 | V>M | No |
ClinGen gnomAD |
|
|
rs782219255 CA10406628 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412920641 rs1275031739 |
60 | R>H | No |
ClinGen TOPMed |
|
|
CA412920652 rs1557055881 |
60 | R>S | No |
ClinGen gnomAD |
|
|
rs1346686195 CA412920533 |
69 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10406624 rs782664325 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1557055854 CA412920506 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA10406621 rs782726762 |
75 | P>A | No |
ClinGen ExAC |
|
|
rs1461260588 CA412920481 |
75 | P>L | No |
ClinGen TOPMed |
|
|
rs868917531 CA412920433 |
80 | R>L | No |
ClinGen gnomAD |
|
|
rs1557055841 CA412920440 |
80 | R>S | No |
ClinGen gnomAD |
|
|
rs1557055834 CA412920414 |
82 | A>S | No |
ClinGen gnomAD |
|
|
CA412920397 rs1557055822 |
84 | A>D | No |
ClinGen gnomAD |
|
|
rs781846795 CA10406619 |
84 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs868995487 CA412920380 |
86 | P>S | No |
ClinGen Ensembl |
|
|
CA412920375 rs1240388419 |
87 | P>S | No |
ClinGen TOPMed |
|
|
rs868935961 CA412920364 |
88 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 88 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412920336 rs1557055809 |
91 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868923756 CA412920332 |
92 | G>C | No |
ClinGen Ensembl |
|
|
CA412920325 rs1436381034 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs782142375 CA10406617 |
94 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA412920320 rs782142375 |
94 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1557055790 CA412920280 |
98 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181582563 CA412920249 |
101 | P>S | No |
ClinGen TOPMed |
|
|
rs782695409 CA10406615 |
105 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174352446 CA412920170 |
106 | P>L | No |
ClinGen TOPMed |
|
|
rs1557055771 CA412920176 |
106 | P>S | No |
ClinGen gnomAD |
|
|
rs1557055764 CA412920079 |
110 | G>V | No |
ClinGen gnomAD |
|
|
CA10406614 rs782105843 |
112 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781959698 CA10406613 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA412920045 rs1557055745 |
114 | G>S | No |
ClinGen gnomAD |
|
|
rs1557055740 CA412920008 |
116 | A>V | No |
ClinGen gnomAD |
|
|
CA412919996 rs1332447074 |
118 | G>S | No |
ClinGen TOPMed |
|
|
rs1402785226 CA412919968 |
120 | A>T | No |
ClinGen TOPMed |
|
|
CA412919935 rs1557055720 |
122 | A>V | No |
ClinGen gnomAD |
|
|
rs1318059597 CA412919891 |
126 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1557055707 CA412919883 |
126 | A>V | No |
ClinGen gnomAD |
|
|
CA412919877 rs782113365 |
127 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782113365 CA10406609 |
127 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557055697 CA412919869 |
127 | A>V | No |
ClinGen gnomAD |
|
|
CA412919851 rs1557055690 |
129 | V>L | No |
ClinGen gnomAD |
|
|
rs782081505 CA329116972 |
130 | V>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 130 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195534665 CA412919821 |
131 | V>G | No |
ClinGen TOPMed |
|
|
CA412919829 rs1557055686 |
131 | V>M | No |
ClinGen gnomAD |
|
|
CA10406608 rs782038184 |
134 | G>S | No |
ClinGen ExAC |
|
|
CA412919756 rs1557055672 |
136 | A>S | No |
ClinGen gnomAD |
|
|
rs1557055666 CA412919752 |
136 | A>V | No |
ClinGen gnomAD |
|
|
rs1557055659 CA412919749 |
137 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557055653 CA412919702 |
140 | G>D | No |
ClinGen gnomAD |
|
|
rs1557055647 CA412919696 |
141 | G>S | No |
ClinGen gnomAD |
|
|
rs368851872 CA10406605 |
143 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557055639 CA412919630 |
144 | S>F | No |
ClinGen gnomAD |
|
|
rs1557055628 CA412919593 |
148 | H>Y | No |
ClinGen gnomAD |
|
|
rs1557055625 CA412919542 |
151 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412919522 rs1557055622 |
153 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412919495 rs1371208278 |
156 | P>L | No |
ClinGen TOPMed |
|
|
rs1557055617 CA412919498 |
156 | P>S | No |
ClinGen gnomAD |
|
|
CA412919490 rs1461469540 |
157 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557055612 CA412919494 |
157 | G>R | No |
ClinGen gnomAD |
|
|
CA412919462 rs1163615465 |
160 | A>S | No |
ClinGen TOPMed |
|
|
rs782447642 CA10406596 |
168 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292842453 CA412919299 |
170 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA412919289 rs1602444996 |
171 | V>G | No |
ClinGen Ensembl |
|
|
COSM3406428 rs781832739 CA10406595 |
172 | G>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 174 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406593 rs782136726 |
175 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1557055560 CA412919091 |
183 | A>V | No |
ClinGen gnomAD |
|
|
CA10406591 rs782813948 |
187 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782152325 CA10406590 |
187 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs200907524 CA10406587 |
192 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs782289145 CA10406584 |
195 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10406571 rs781840824 |
201 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs149616505 CA10406570 |
205 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782027513 CA10406568 |
208 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782067268 CA10406566 |
214 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10406564 rs782352138 |
217 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412915461 rs1557051822 |
219 | K>E | No |
ClinGen gnomAD |
|
|
rs782002385 CA10406562 |
219 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782206772 CA10406563 |
219 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782666250 COSM757116 CA10406559 |
223 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs3027507 CA329110492 |
239 | M>R | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557049602 CA412913933 |
242 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412913872 rs1557049599 |
246 | H>Y | No |
ClinGen gnomAD |
|
|
rs782207044 CA10406541 |
252 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412913590 rs1557049559 |
262 | V>I | No |
ClinGen gnomAD |
|
|
CA412913510 rs1569514560 |
267 | T>I | No |
ClinGen Ensembl |
|
|
rs1557049551 CA412913478 |
270 | I>V | No |
ClinGen gnomAD |
|
|
rs990335315 CA329110471 |
275 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 280 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3027508 CA329110467 |
280 | G>R | No |
ClinGen Ensembl |
|
|
CA10406537 rs782620082 |
284 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs782560054 CA10406536 |
287 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251450102 CA412913033 |
294 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406534 rs139344831 |
302 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557049477 CA412912536 |
315 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412912175 rs1557049459 |
331 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412911935 rs1557049451 |
342 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781999269 CA10406499 |
387 | R>Q | No |
ClinGen ExAC |
|
| TCGA novel | 397 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406493 rs782616558 |
418 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782489641 CA10406492 |
419 | R>C | No |
ClinGen ExAC |
|
|
CA10406491 rs781873713 |
419 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 427 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406486 rs782691275 |
427 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557047125 CA412907264 |
428 | R>Q | No |
ClinGen gnomAD |
|
|
CA412907244 rs1557047121 |
430 | A>T | No |
ClinGen gnomAD |
|
|
CA412907106 rs1557047100 |
440 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406480 rs782038522 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10406481 rs782110834 |
451 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA329106878 rs1053198208 |
452 | S>F | No |
ClinGen Ensembl |
|
|
CA412906987 rs1557047084 |
452 | S>T | No |
ClinGen gnomAD |
|
|
rs1453808339 CA412906975 |
454 | R>W | No |
ClinGen TOPMed |
|
|
CA412906964 rs868951860 |
455 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA412906960 rs1252713651 |
456 | R>Q | No |
ClinGen TOPMed |
|
|
CA329106872 rs926134865 |
456 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781924014 CA10406477 |
459 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412906933 rs1557047058 |
460 | S>L | No |
ClinGen gnomAD |
|
|
rs1190819819 CA412906926 |
462 | P>S | No |
ClinGen TOPMed |
|
|
rs1557047053 CA412906906 |
464 | H>P | No |
ClinGen gnomAD |
|
|
rs782366486 CA10406476 |
473 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10406475 rs782216347 |
474 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10406474 rs782006720 |
483 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412906641 rs1403497313 |
484 | L>V | No |
ClinGen TOPMed |
|
|
rs1322657324 CA412906621 |
485 | A>G | No |
ClinGen TOPMed |
|
|
CA412906551 rs1557047006 |
491 | C>S | No |
ClinGen gnomAD |
|
|
rs367931579 CA10406472 |
492 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10406455 rs782320614 |
500 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA412906349 rs1370200083 |
502 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1471776966 COSM249086 CA412906329 |
504 | D>N | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10406452 rs782339904 |
505 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 505 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412906212 rs1458653255 |
514 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 515 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782272057 CA10406448 |
515 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557046906 CA412906100 |
522 | L>F | No |
ClinGen Ensembl |
|
|
rs1557046755 CA412905889 |
534 | N>S | No |
ClinGen gnomAD |
|
|
rs781817722 CA10406420 |
548 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 555 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412905569 rs1188874001 |
561 | K>E | No |
ClinGen TOPMed |
|
|
CA412905543 rs1391626351 |
563 | H>P | No |
ClinGen TOPMed |
|
|
CA412905498 rs1569513069 |
566 | P>L | No |
ClinGen Ensembl |
|
|
rs1458827853 CA412905497 |
567 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412905483 rs1295653938 |
568 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1295653938 CA412905481 |
568 | P>S | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q96G74
[MIM: 301056]: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MCAND)
An X-linked recessive, congenital disorder characterized by central nervous system, craniofacial, cardiac, skeletal, and genitourinary anomalies. Clinical features include poor growth, short stature, global developmental delay, impaired intellectual development, microcephaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and other variable abnormalities. Brain imaging typically shows ventriculomegaly and thin corpus callosum. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. {ECO:0000269|PubMed:33523931}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive, congenital disorder characterized by central nervous system, craniofacial, cardiac, skeletal, and genitourinary anomalies. Clinical features include poor growth, short stature, global developmental delay, impaired intellectual development, microcephaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and other variable abnormalities. Brain imaging typically shows ventriculomegaly and thin corpus callosum. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. {ECO:0000269|PubMed:33523931}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96G74
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | OTU domain | 213 - 341 | IPR003323 |
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
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 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. |
| deubiquitinase activity | An isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| Lys48-specific deubiquitinase activity | Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein. |
| Lys63-specific deubiquitinase activity | Hydrolysis of Lys63-Linked ubiquitin unit(s) from a ubiquitinated protein. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of type I interferon production | Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| neural crest cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. |
| positive regulation of TORC1 signaling | Any process that activates or increases the frequency, rate or extent of TORC1 signaling. |
| positive regulation of TORC2 signaling | Any process that activates or increases the frequency, rate or extent of TORC2 signaling. |
| protein deubiquitination | The removal of one or more ubiquitin groups 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 K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTILPKKKPP | PPDADPANEP | PPPGPMPPAP | RRGGGVGVGG | GGTGVGGGDR | DRDSGVVGAR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRASPPPQGP | LPGPPGALHR | WALAVPPGAV | AGPRPQQASP | PPCGGPGGPG | GGPGDALGAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AAGVGAAGVV | VGVGGAVGVG | GCCSGPGHSK | RRRQAPGVGA | VGGGSPEREE | VGAGYNSEDE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YEAAAARIEA | MDPATVEQQE | HWFEKALRDK | KGFIIKQMKE | DGACLFRAVA | DQVYGDQDMH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVVRKHCMDY | LMKNADYFSN | YVTEDFTTYI | NRKRKNNCHG | NHIEMQAMAE | MYNRPVEVYQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YSTGTSAVEP | INTFHGIHQN | EDEPIRVSYH | RNIHYNSVVN | PNKATIGVGL | GLPSFKPGFA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQSLMKNAIK | TSEESWIEQQ | MLEDKKRATD | WEATNEAIEE | QVARESYLQW | LRDQEKQARQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VRGPSQPRKA | SATCSSATAA | ASSGLEEWTS | RSPRQRSSAS | SPEHPELHAE | LGMKPPSPGT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VLALAKPPSP | CAPGTSSQFS | AGADRATSPL | VSLYPALECR | ALIQQMSPSA | FGLNDWDDDE |
| 550 | 560 | 570 | |||
| ILASVLAVSQ | QEYLDSMKKN | KVHRDPPPDK | S |