Q96BN8
PR
Gene name |
OTULIN |
Protein name |
Ubiquitin thioesterase otulin |
Names |
Deubiquitinating enzyme otulin, OTU domain-containing deubiquitinase with linear linkage specificity, Ubiquitin thioesterase Gumby |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90268 |
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
12 structures for Q96BN8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3ZNV | X-ray | 130 A | A | 80-352 | PDB |
| 3ZNX | X-ray | 135 A | A | 80-352 | PDB |
| 3ZNZ | X-ray | 190 A | A | 80-352 | PDB |
| 4KSJ | X-ray | 160 A | A | 79-352 | PDB |
| 4KSK | X-ray | 240 A | A/B | 55-352 | PDB |
| 4KSL | X-ray | 283 A | A/B/E/G/I/K/M/O/Q/S/U/W | 79-352 | PDB |
| 4OYK | X-ray | 200 A | C/D | 49-67 | PDB |
| 4P0B | X-ray | 270 A | B/D | 52-61 | PDB |
| 5OE7 | X-ray | 295 A | A | 80-350 | PDB |
| 6I9C | X-ray | 177 A | A | 80-345 | PDB |
| 6SAK | X-ray | 200 A | A/B | 80-352 | PDB |
| AF-Q96BN8-F1 | Predicted | AlphaFoldDB |
208 variants for Q96BN8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001328573 rs1735786455 |
8 | Q>* | Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087550 | 86 | M>I | AIPDS; decreased function in protein linear deubiquitination [UniProt] | Yes | UniProt |
| VAR_087551 | 95 | E>del | IMD107; loss of NF-kappa-B inhibition and increased NF-kappa-B signaling [UniProt] | Yes | UniProt |
| VAR_087553 | 167 | W>S | AIPDS; decreased function in protein linear deubiquitination [UniProt] | Yes | UniProt |
|
rs886037886 RCV002273999 RCV000240604 |
174 | G>missing | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection Infantile-onset periodic fever-panniculitis-dermatosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA114012227 RCV001328574 rs867617260 |
185 | V>F | Variant assessed as Somatic; impact. Infantile-onset periodic fever-panniculitis-dermatosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs886037887 RCV002274000 VAR_076865 RCV000240606 CA10586333 |
244 | Y>C | Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection Infantile-onset periodic fever-panniculitis-dermatosis syndrome AIPDS and IMD107; slightly impaired ability to mediate deubiquitination of linear polyubiquitin chains; does not affect ability to interact with RNF31; severely decreased NF-kappa-B inhibition and increased NF-kappa-B signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_087554 | 246 | D>V | IMD107; severely decreased NF-kappa-B inhibition and increased NF-kappa-B signaling [UniProt] | Yes | UniProt |
|
VAR_087555 CA359243868 rs1332823115 |
263 | R>Q | IMD107; loss of NF-kappa-B inhibition and increased NF-kappa-B signaling [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
VAR_076866 RCV000240607 rs886037885 CA10586331 |
272 | L>P | Infantile-onset periodic fever-panniculitis-dermatosis syndrome AIPDS and IMD107; decreased stability; impaired ability to mediate deubiquitination of linear polyubiquitin chains; loss of NF-kappa-B inhibition and increased NF-kappa-B signaling; does not affect ability to interact with RNF31 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs749422586 CA3208498 |
2 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs867018113 CA114003864 |
3 | R>L | No |
ClinGen TOPMed |
|
|
rs867018113 CA359242042 |
3 | R>Q | No |
ClinGen TOPMed |
|
|
rs770748271 CA3208499 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359242055 rs1427544449 |
5 | T>I | No |
ClinGen TOPMed |
|
|
CA359242060 CA114003877 rs867597034 |
6 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs745608502 CA3208501 |
6 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA114003871 rs900683731 |
6 | M>V | No |
ClinGen TOPMed |
|
|
rs868538449 CA114003880 |
7 | P>H | No |
ClinGen gnomAD |
|
|
rs868538449 CA359242066 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs775223470 CA3208503 |
8 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA359242071 rs1278839495 |
8 | Q>R | No |
ClinGen TOPMed |
|
|
rs867562225 CA114003886 |
9 | P>H | No |
ClinGen Ensembl |
|
|
CA114003884 rs867025741 |
9 | P>T | No |
ClinGen Ensembl |
|
|
CA359242078 rs1210721980 |
10 | E>K | No |
ClinGen TOPMed |
|
|
rs1560988592 CA359242106 |
13 | P>L | No |
ClinGen Ensembl |
|
|
CA114003888 rs996277843 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs892872955 CA114003896 |
16 | S>R | No |
ClinGen TOPMed |
|
|
CA114003905 rs549057707 |
19 | E>D | No |
ClinGen 1000Genomes |
|
|
rs1010342671 CA114003900 |
19 | E>G | No |
ClinGen TOPMed |
|
|
CA359242149 rs1312208316 |
20 | T>R | No |
ClinGen TOPMed |
|
|
CA359242151 rs1415319938 |
21 | P>A | No |
ClinGen TOPMed |
|
|
rs1415319938 CA359242152 |
21 | P>S | No |
ClinGen TOPMed |
|
|
rs1285122539 CA359242159 |
22 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs567388578 CA114003908 |
22 | A>T | No |
ClinGen 1000Genomes |
|
|
CA359242161 rs1285122539 |
22 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1579955351 CA359242173 |
24 | E>D | No |
ClinGen Ensembl |
|
|
CA359242180 rs1187950642 |
25 | A>V | No |
ClinGen TOPMed |
|
|
rs1489684743 CA359242186 |
26 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs958544405 CA114003914 |
30 | R>W | No |
ClinGen TOPMed |
|
|
rs534822150 CA114003916 |
35 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1252128358 CA359242252 |
37 | A>G | No |
ClinGen TOPMed |
|
|
CA359242253 rs1252128358 |
37 | A>V | No |
ClinGen TOPMed |
|
|
rs1198264736 CA359242255 |
38 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359242254 rs1198264736 |
38 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1252937668 CA359242258 |
38 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3208508 rs750815369 RCV001090990 |
40 | Q>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1396519608 CA359242306 |
45 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 47 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359242336 rs1579955423 |
49 | A>V | No |
ClinGen Ensembl |
|
|
CA114003923 rs983896316 |
50 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757388889 CA3208517 |
55 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1335342054 CA359242405 |
57 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3208518 rs369121781 |
57 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359242425 rs1579962384 |
60 | D>G | No |
ClinGen Ensembl |
|
|
CA359242422 rs1467804942 |
60 | D>H | No |
ClinGen TOPMed |
|
|
CA359242445 rs1237157737 |
63 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757248466 CA114007259 |
66 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745829522 CA3208519 |
70 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA359242506 rs1201643290 |
71 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359242524 rs1200964135 |
73 | R>S | No |
ClinGen gnomAD |
|
|
rs1229299587 CA359242531 |
75 | A>T | No |
ClinGen TOPMed |
|
|
CA359242568 rs1268844006 |
78 | P>L | No |
ClinGen gnomAD |
|
|
rs555528904 CA3208548 |
82 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA114009371 rs1050637891 |
86 | M>V | No |
ClinGen TOPMed |
|
|
CA3208550 rs200647782 |
87 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401480656 CA359242659 |
91 | Y>C | No |
ClinGen gnomAD |
|
|
rs769403310 CA3208551 |
93 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA359242679 rs1324069106 |
94 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560995501 CA359242695 |
96 | W>R | No |
ClinGen Ensembl |
|
|
rs1169369060 CA359242718 |
99 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3208555 rs776004992 |
103 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359242752 rs1220378082 |
104 | T>A | No |
ClinGen gnomAD |
|
|
COSM1435003 CA3208556 rs373661896 |
104 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3208559 rs762088767 |
106 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1384770036 CA359242772 |
107 | K>Q | No |
ClinGen TOPMed |
|
|
rs1374812792 CA359242816 |
110 | Y>* | No |
ClinGen gnomAD |
|
|
CA3208587 rs752485795 |
111 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359242840 rs1241820666 |
114 | S>A | No |
ClinGen gnomAD |
|
|
RCV000962879 rs147790160 VAR_087552 CA3208589 |
115 | Q>H | does not affect down-regulation of NF-kappa-B signaling [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3208590 rs753500942 |
120 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1304356377 CA359242887 |
121 | R>Q | No |
ClinGen gnomAD |
|
|
rs1355271789 CA359242891 |
122 | R>* | No |
ClinGen gnomAD |
|
|
CA114010367 rs903395664 |
122 | R>Q | No |
ClinGen Ensembl |
|
|
COSM3612065 CA359242902 rs1240295700 |
124 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375220163 CA3208594 |
134 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359242999 rs1474506770 |
138 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748478710 CA3208596 |
140 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359243024 rs1579969225 |
142 | A>T | No |
ClinGen Ensembl |
|
|
CA359243043 rs1441741070 |
145 | L>M | No |
ClinGen gnomAD |
|
|
rs371959714 CA3208597 |
147 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378474278 CA359243076 |
150 | Q>R | No |
ClinGen Ensembl |
|
|
CA3208599 rs547080675 |
152 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3208601 rs774554765 |
153 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3208603 rs767444462 |
154 | L>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_053819 rs11953822 CA3208605 RCV000972414 |
155 | M>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3208606 rs11953822 |
155 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756870978 CA3208608 |
156 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3208631 rs751122695 |
160 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770508856 CA3208632 |
163 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359243191 rs1388182027 |
165 | Y>* | No |
ClinGen gnomAD |
|
|
rs376739310 CA114012213 |
166 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs778449845 CA3208633 |
166 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359243207 rs1323707301 |
168 | I>L | No |
ClinGen gnomAD |
|
|
rs1323707301 CA359243208 |
168 | I>V | No |
ClinGen gnomAD |
|
|
rs757696939 CA3208635 |
173 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1276789817 CA359243264 |
176 | K>E | No |
ClinGen gnomAD |
|
|
CA3208636 rs779135276 |
178 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1234687423 CA359243279 |
178 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3208637 rs746061545 |
180 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1337414788 CA359243321 |
183 | D>E | No |
ClinGen TOPMed |
|
|
rs772402833 CA3208638 |
184 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA114012228 rs927749469 |
187 | K>N | No |
ClinGen Ensembl |
|
|
CA359243348 rs1354589533 |
188 | I>V | No |
ClinGen gnomAD |
|
|
rs775399166 CA3208639 |
189 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA114012232 CA3208640 rs548291213 |
190 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3208641 rs768531615 |
193 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442152197 CA359243390 |
195 | L>V | No |
ClinGen TOPMed |
|
|
CA359243396 rs1214390919 |
196 | R>K | No |
ClinGen gnomAD |
|
|
CA114012238 rs913250972 |
197 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1488557623 CA359243410 |
198 | K>E | No |
ClinGen gnomAD |
|
|
CA3208659 rs747025364 |
202 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359243495 rs1380376684 |
208 | A>D | No |
ClinGen gnomAD |
|
|
rs768736251 CA3208660 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3208661 rs369858491 |
212 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416481951 CA359243540 |
215 | C>F | No |
ClinGen gnomAD |
|
|
CA359243537 rs1381573314 |
215 | C>S | No |
ClinGen TOPMed |
|
|
CA359243553 rs1171397192 |
217 | E>K | No |
ClinGen TOPMed |
|
|
rs748074555 CA3208662 |
218 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA114013023 rs911291861 |
221 | N>D | No |
ClinGen Ensembl |
|
|
rs769766776 CA3208663 |
221 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA359243585 rs1444821186 |
222 | E>K | No |
ClinGen gnomAD |
|
|
rs202055637 CA3208664 |
223 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs9312870 VAR_053820 RCV000952876 VAR_029469 CA3208710 |
227 | S>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3208668 rs759054878 |
228 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3208670 rs752319331 |
229 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3208672 rs765820054 |
231 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA114013047 rs968126715 |
236 | M>L | No |
ClinGen Ensembl |
|
|
CA359243701 rs1453900515 |
238 | N>K | No |
ClinGen TOPMed |
|
|
CA3208675 rs780082394 |
238 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359243709 rs1376472584 |
240 | A>T | No |
ClinGen gnomAD |
|
|
CA3208676 rs751768304 |
241 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3208677 rs755260790 |
245 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1401149529 CA359243749 |
246 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 248 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561001841 CA359243768 |
248 | E>G | No |
ClinGen Ensembl |
|
|
CA359243794 rs1579976635 |
252 | E>K | No |
ClinGen Ensembl |
|
|
CA3208678 rs781221295 |
253 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA114013071 rs375690536 |
264 | D>G | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 267 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769573653 CA3208680 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3208681 rs777800432 |
271 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934539516 CA114013096 |
276 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770769344 CA359243978 |
280 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3208683 rs770769344 |
280 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235150827 CA359243989 |
282 | H>Y | No |
ClinGen TOPMed |
|
|
CA3208684 rs774342576 |
283 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA359244013 rs1200697795 |
285 | G>V | No |
ClinGen gnomAD |
|
|
rs759254218 CA3208685 |
288 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA359244069 rs1425337041 |
291 | M>I | No |
ClinGen gnomAD |
|
|
CA3208704 rs778817554 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA114014331 rs375862814 |
298 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3208706 COSM1063920 rs771800109 |
299 | R>C | Variant assessed as Somatic; 9.282e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775311956 CA3208707 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359244133 rs1275241118 |
302 | I>V | No |
ClinGen Ensembl |
|
|
CA359244176 rs1266458367 |
308 | S>C | No |
ClinGen gnomAD |
|
|
CA359244183 rs1352242306 |
309 | K>N | No |
ClinGen gnomAD |
|
|
CA3208709 rs370810573 |
309 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9312870 VAR_053820 |
311 | N>S | No |
UniProt dbSNP |
|
|
CA3208711 rs763486377 |
312 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943608604 CA114014355 |
316 | I>V | No |
ClinGen TOPMed |
|
|
rs1180373538 CA359244241 |
318 | V>I | No |
ClinGen gnomAD |
|
|
rs1178168614 CA359244268 |
322 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3208714 rs759928316 |
324 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183373151 CA359244292 |
325 | K>N | No |
ClinGen TOPMed |
|
|
rs1159665729 CA359244297 |
326 | D>G | No |
ClinGen gnomAD |
|
|
CA3208715 rs533246626 |
326 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464320387 CA359244320 |
329 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3208717 rs756345508 |
331 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA359244345 rs1426118036 |
333 | I>M | No |
ClinGen gnomAD |
|
|
CA359244350 rs1300866068 |
334 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1445578714 CA359244346 |
334 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 344 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745617687 CA3208722 |
344 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359244418 rs745617687 |
344 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1208529166 CA359244430 |
346 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA114014395 rs569922473 |
348 | E>G | No |
ClinGen 1000Genomes |
|
|
rs758273255 CA3208724 |
350 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3208725 rs201549255 |
351 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359244471 rs1178187358 |
352 | L>I | No |
ClinGen gnomAD |
|
|
CA114014414 rs748025097 |
353 | L>R | No |
ClinGen Ensembl |
1 associated diseases with Q96BN8
[MIM: 617099]: Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS)
An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. {ECO:0000269|PubMed:27523608, ECO:0000269|PubMed:27559085}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. {ECO:0000269|PubMed:27523608, ECO:0000269|PubMed:27559085}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96BN8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96BN8 | |||
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| LUBAC complex | A ubiquitin ligase complex that catalyzes linear head-to-tail polyubiquitin conjugation on its targets. In human the complex consists of RBCK1, RNF31 and SHARPIN, and has an MW of approximately 600 kDa, suggesting a heteromultimeric assembly of its subunits. LUBAC stands for Linear Ubiquitin Chain Assembly Complex. |
2 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. |
| cysteine-type peptidase activity | Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
10 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. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| nucleotide-binding oligomerization domain containing 2 signaling pathway | The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 2 (NOD2) protein receptor, and ending with regulation of a downstream cellular process. |
| protein linear deubiquitination | A protein deubiquitination process in which a linear polymer of ubiquitin, formed by the amino-terminal methionine (M1) of one ubiquitin molecule and by the carboxy-terminal glycine (G76) of the next, is removed from a protein. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of canonical Wnt signaling pathway | Any process that modulates 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. |
| regulation of tumor necrosis factor-mediated signaling pathway | Any process that modulates the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor. |
| sprouting angiogenesis | The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRGTMPQPE | AWPGASCAET | PAREAAATAR | DGGKAAASGQ | PRPEMQCPAE | HEEDMYRAAD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIEKEKELLI | HERGASEPRL | SVAPEMDIMD | YCKKEWRGNT | QKATCMKMGY | EEVSQKFTSI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRVRGDNYCA | LRATLFQAMS | QAVGLPPWLQ | DPELMLLPEK | LISKYNWIKQ | WKLGLKFDGK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NEDLVDKIKE | SLTLLRKKWA | GLAEMRTAEA | RQIACDELFT | NEAEEYSLYE | AVKFLMLNRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IELYNDKEKG | KEVPFFSVLL | FARDTSNDPG | QLLRNHLNQV | GHTGGLEQVE | MFLLAYAVRH |
| 310 | 320 | 330 | 340 | 350 | |
| TIQVYRLSKY | NTEEFITVYP | TDPPKDWPVV | TLIAEDDRHY | NIPVRVCEET | SL |