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 Q9BWS9

Entry ID Method Resolution Chain Position Source
3BXW X-ray 270 A A/B 1-393 PDB
AF-Q9BWS9-F1 Predicted AlphaFoldDB

348 variants for Q9BWS9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs115345705
CA5793558
2 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793559
rs549690523
2 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs549420384
CA216989981
3 T>R No ClinGen
Ensembl
rs764219285
CA5793557
4 L>P No ClinGen
ExAC
gnomAD
rs1335323453
CA378966685
6 N>S No ClinGen
gnomAD
CA378966688
rs1335323453
6 N>T No ClinGen
gnomAD
CA378966623
rs1481369979
7 L>P No ClinGen
TOPMed
gnomAD
CA5793556
rs377581510
8 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1197763557
CA378966564
9 W>C No ClinGen
gnomAD
rs559255470
CA216989959
12 L>P No ClinGen
1000Genomes
rs1364057863
CA378966463
13 A>S No ClinGen
TOPMed
gnomAD
CA378966466
rs1364057863
13 A>T No ClinGen
TOPMed
gnomAD
CA216989956
rs1027394712
14 C>F No ClinGen
Ensembl
rs765584828
CA5793554
15 S>I No ClinGen
ExAC
gnomAD
CA5793553
rs140024174
16 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378966290
rs1157404760
17 V>I No ClinGen
TOPMed
gnomAD
CA378966291
rs1157404760
17 V>L No ClinGen
TOPMed
gnomAD
CA5793551
rs369537760
19 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1565203809
CA378966023
26 A>T No ClinGen
Ensembl
rs1349198129
CA378965993
26 A>V No ClinGen
TOPMed
CA216989920
rs897447611
27 K>R No ClinGen
Ensembl
rs1224101489
CA378965907
28 K>R No ClinGen
TOPMed
gnomAD
rs376582815
CA5793548
30 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5793547
rs749230118
30 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1221433397
CA378965811
31 S>L No ClinGen
gnomAD
CA5793546
rs146843043
32 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1009120068
CA216989902
COSM1248238
33 T>M Variant assessed as Somatic; 0.0 impact. oesophagus central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1225467940
CA378965705
36 E>* No ClinGen
TOPMed
gnomAD
CA378965684
rs1225467940
36 E>K No ClinGen
TOPMed
gnomAD
rs1231394454
CA378963482
38 S>N No ClinGen
TOPMed
gnomAD
rs1298333021
CA378963471
38 S>R No ClinGen
TOPMed
CA378963454
rs1372199943
39 Q>* No ClinGen
TOPMed
rs1490599776
CA378963291
42 D>G No ClinGen
gnomAD
CA5793515
rs754244115
42 D>N No ClinGen
ExAC
gnomAD
rs766738061
CA5793514
44 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA216988464
rs867012629
44 P>S No ClinGen
Ensembl
CA378963170
rs1359316325
45 V>G No ClinGen
gnomAD
rs200139988
CA378963063
48 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200139988
CA5793509
48 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200818734
CA378963053
49 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200818734
CA5793508
49 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1441052732
CA378962999
51 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA216988408
rs749824532
53 T>M No ClinGen
gnomAD
CA5793504
rs547880950
59 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA216988395
rs148598758
59 S>N No ClinGen
ESP
TOPMed
gnomAD
rs148598758
CA378962672
59 S>T No ClinGen
ESP
TOPMed
gnomAD
CA378962652
rs1420890430
60 V>L No ClinGen
gnomAD
CA5793503
rs147773662
62 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378962568
rs1176788602
63 E>G No ClinGen
gnomAD
rs779066400
CA5793500
64 H>L No ClinGen
ExAC
gnomAD
rs779066400
CA5793501
64 H>R No ClinGen
ExAC
gnomAD
CA5793502
rs772457493
64 H>Y No ClinGen
ExAC
gnomAD
CA378962502
rs1220696886
65 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5793499
rs754950202
65 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA378962476
rs1410845259
66 S>T No ClinGen
TOPMed
rs568602461
CA5793498
69 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756519811
CA5793496
70 A>G No ClinGen
ExAC
gnomAD
CA378962366
rs1318146960
70 A>T No ClinGen
gnomAD
rs750755754
CA5793495
73 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5793494
rs767819599
75 R>G No ClinGen
ExAC
gnomAD
rs1284870348
CA378962100
76 H>R No ClinGen
gnomAD
CA5793492
rs762679519
78 A>V No ClinGen
ExAC
gnomAD
CA5793491
rs752223525
79 G>R No ClinGen
ExAC
gnomAD
CA5793490
rs149526989
81 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1262891751
CA378961663
87 P>L No ClinGen
gnomAD
rs771709076
CA5793484
87 P>S No ClinGen
ExAC
gnomAD
rs1163548201
CA378961323
88 W>G No ClinGen
TOPMed
gnomAD
rs1163548201
CA378961337
88 W>R No ClinGen
TOPMed
gnomAD
CA5793464
rs554156232
89 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA5793462
rs775559505
93 Y>C No ClinGen
ExAC
gnomAD
rs373864240
CA5793460
COSM1248237
94 D>N Variant assessed as Somatic; 9.24e-05 impact. oesophagus central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA5793457
rs371483155
95 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793458
rs371483155
95 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793455
rs147404587
97 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs778156977
CA5793456
97 K>R No ClinGen
ExAC
gnomAD
rs753486053
CA5793454
98 V>G No ClinGen
ExAC
gnomAD
rs1363349254
CA378961012
98 V>I No ClinGen
TOPMed
CA5793452
rs755684842
101 S>R No ClinGen
ExAC
gnomAD
rs904749399
CA216987520
105 Q>H No ClinGen
TOPMed
CA5793451
rs750446670
106 I>M No ClinGen
ExAC
gnomAD
CA5793450
rs767336380
108 P>A No ClinGen
ExAC
gnomAD
rs267603234
CA5793449
108 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5793447
rs143153872
109 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763164354
CA5793446
111 L>V No ClinGen
ExAC
gnomAD
rs775684422
CA5793445
112 Q>H No ClinGen
ExAC
gnomAD
CA378960284
rs1301828388
114 K>R No ClinGen
TOPMed
rs202056261
CA5793444
COSM3953938
116 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA5793443
rs759586674
117 G>S No ClinGen
ExAC
gnomAD
CA5793442
rs757215367
118 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5793441
rs771369989
118 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771369989
CA378960159
118 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5793439
rs368061351
120 M>I No ClinGen
ESP
ExAC
gnomAD
rs1039909944
CA216987481
120 M>K No ClinGen
Ensembl
rs747497630
CA5793440
120 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA378959998
rs1589893123
123 V>G No ClinGen
Ensembl
CA216987478
rs946798349
123 V>I No ClinGen
TOPMed
rs139154177
COSM239321
CA5793438
124 T>M Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1052435649
CA216987450
125 G>D No ClinGen
TOPMed
gnomAD
rs893907481
CA216987456
125 G>S No ClinGen
Ensembl
CA216987449
rs935366038
126 L>F No ClinGen
TOPMed
gnomAD
rs935366038
CA378959918
126 L>V No ClinGen
TOPMed
gnomAD
rs199772507
CA5793435
127 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5793436
rs779843252
127 H>R No ClinGen
ExAC
gnomAD
rs757164828
CA5793432
128 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5793433
rs757164828
128 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763860256
CA5793430
129 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1445954455
CA378958429
134 M>I No ClinGen
TOPMed
COSM1178072
CA5793398
rs762370145
135 R>* prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5793397
rs774880059
135 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA216986474
rs909333528
139 K>E No ClinGen
Ensembl
CA5793396
rs769085275
142 K>E No ClinGen
ExAC
gnomAD
CA378958160
rs1278204752
142 K>R No ClinGen
TOPMed
gnomAD
rs1278204752
CA378958161
142 K>T No ClinGen
TOPMed
gnomAD
CA378958090
rs1341992500
145 H>Y No ClinGen
gnomAD
rs1268922302
CA378958060
146 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1033335167
CA216985789
149 R>Q No ClinGen
TOPMed
COSM932981
CA378957631
rs1288483282
149 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA378957597
rs1223932398
151 L>P No ClinGen
TOPMed
rs767711694
CA5793363
154 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757397947
CA5793362
156 T>I No ClinGen
ExAC
gnomAD
CA378957502
rs1345976427
156 T>P No ClinGen
gnomAD
CA378957500
rs1345976427
156 T>S No ClinGen
gnomAD
rs764630801
CA5793359
157 Y>* No ClinGen
ExAC
TOPMed
rs768146741
CA216985741
157 Y>D No ClinGen
Ensembl
rs201164951
CA5793357
158 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378957412
rs1460810850
160 F>S No ClinGen
TOPMed
rs765458236
CA216985709
161 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs765458236
CA5793355
161 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5793356
rs753123596
161 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5793354
rs140948757
163 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs993756327
CA216985688
164 L>F No ClinGen
Ensembl
rs4963182
CA216985685
165 D>H No ClinGen
Ensembl
CA378957341
rs1173179201
166 S>G No ClinGen
TOPMed
gnomAD
rs771630933
CA5793352
166 S>N No ClinGen
ExAC
rs1040582207
CA216985677
168 D>V No ClinGen
Ensembl
TCGA novel 170 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378957259
rs1189876604
170 I>T No ClinGen
gnomAD
CA378957235
rs1243216164
172 E>* No ClinGen
gnomAD
CA378957180
rs1330686216
174 S>R No ClinGen
TOPMed
gnomAD
TCGA novel 175 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749130873
CA5793348
176 T>A No ClinGen
ExAC
gnomAD
rs749130873
CA5793349
176 T>S No ClinGen
ExAC
gnomAD
CA5793346
rs769409810
177 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA5793343
rs757451317
179 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs777661005
CA378957092
180 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA5793341
rs777661005
180 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA5793342
COSM119852
rs751719046
180 V>L ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5793340
rs758953726
181 A>S No ClinGen
ExAC
gnomAD
rs1441968015
CA378957085
182 K>Q No ClinGen
TOPMed
CA5793318
rs552920405
186 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs552920405
CA5793317
186 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378955894
rs1339909384
187 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs374659275
CA5793315
187 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 188 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5793313
rs762359264
189 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs148078031
CA378955708
190 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148078031
CA5793311
190 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378955660
rs765296392
192 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA5793310
rs765296392
192 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1300213384
CA378955630
193 V>A No ClinGen
TOPMed
gnomAD
CA5793309
rs759497306
194 W>* No ClinGen
ExAC
gnomAD
CA378955562
CA5793308
rs746151251
195 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1589884482
CA378955572
195 N>T No ClinGen
Ensembl
CA378955311
rs1184914743
201 K>N No ClinGen
gnomAD
CA378955337
rs1369743503
201 K>R No ClinGen
gnomAD
rs772974142
CA378955298
202 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773290323
CA5793305
202 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs773290323
CA378955269
202 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs772974142
CA5793306
202 R>S No ClinGen
ExAC
gnomAD
CA378955248
rs374093920
203 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793303
rs374093920
203 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378952679
rs1385725743
204 G>D No ClinGen
gnomAD
rs1323561385
CA378952717
204 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA216980756
rs867862407
205 L>F No ClinGen
TOPMed
gnomAD
CA216980742
rs112060753
205 L>P No ClinGen
gnomAD
CA378952608
rs1455281031
206 I>M No ClinGen
gnomAD
rs1177143037
CA378952564
208 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1410800321
CA378952514
209 L>P No ClinGen
gnomAD
CA216980740
rs1039488094
211 H>Y No ClinGen
TOPMed
CA216980732
rs962266293
214 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378952354
rs962266293
214 E>Q No ClinGen
TOPMed
gnomAD
rs1198146591
CA378952251
216 L>V No ClinGen
gnomAD
CA378952194
rs1250020082
217 H>P No ClinGen
TOPMed
gnomAD
CA378952193
rs1250020082
217 H>R No ClinGen
TOPMed
gnomAD
CA378952108
rs1464572112
218 Q>* No ClinGen
TOPMed
gnomAD
CA378952157
rs1464572112
218 Q>E No ClinGen
TOPMed
gnomAD
rs373338550
CA216980730
218 Q>P No ClinGen
ESP
TOPMed
gnomAD
rs113850108
CA5793291
219 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs11541325
CA378951978
220 R>L No ClinGen
TOPMed
gnomAD
CA216980726
rs11541325
220 R>Q No ClinGen
TOPMed
gnomAD
CA5793290
rs776704672
220 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 224 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378951869
rs1203610916
225 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA378951807
rs1240249210
227 I>T No ClinGen
gnomAD
rs953434134
CA216980724
227 I>V No ClinGen
TOPMed
gnomAD
CA216980722
rs1028958102
228 P>L No ClinGen
gnomAD
TCGA novel 228 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA216980711
rs1000113020
229 P>L No ClinGen
Ensembl
rs1399858508
CA378951680
230 A>T No ClinGen
gnomAD
rs1589865595
CA378951591
232 T>P No ClinGen
Ensembl
rs1391970697
CA378951562
233 P>L No ClinGen
gnomAD
CA378951555
rs1267678898
234 G>R No ClinGen
TOPMed
CA378946373
rs1420444013
235 T>S No ClinGen
gnomAD
rs905315937
CA216971750
236 D>E No ClinGen
gnomAD
rs143837907
CA5793267
236 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378946259
CA216971749
rs149001064
240 M>I No ClinGen
ESP
COSM932853
CA5793265
rs146861158
242 T>M endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378946149
rs1489063390
244 K>R No ClinGen
gnomAD
rs1589842602
CA378946004
248 Q>H No ClinGen
Ensembl
CA5793263
rs775506286
249 L>V No ClinGen
ExAC
CA5793262
rs770223032
250 A>S No ClinGen
ExAC
gnomAD
CA5793261
rs746324429
250 A>V No ClinGen
ExAC
gnomAD
rs781411027
CA5793260
251 P>A No ClinGen
ExAC
gnomAD
CA5793257
rs536210286
252 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376597827
CA216971696
252 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376597827
CA5793258
252 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754573713
CA5793256
256 F>L No ClinGen
ExAC
gnomAD
TCGA novel 257 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1486910105
CA378945819
260 T>I No ClinGen
TOPMed
CA5793254
rs779663358
262 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1487507985
CA378945787
262 D>V No ClinGen
TOPMed
CA378945763
rs1434380846
263 Y>C No ClinGen
gnomAD
CA378945768
rs1295292498
263 Y>H No ClinGen
gnomAD
rs1190584151
CA378945734
264 S>A No ClinGen
TOPMed
rs756019950
CA5793253
265 T>A No ClinGen
ExAC
gnomAD
rs767285671
CA378945705
266 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs767285671
CA5793251
266 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1434120976
CA378945686
267 H>R No ClinGen
gnomAD
rs1158810657
CA378945697
267 H>Y No ClinGen
gnomAD
CA216970917
rs1038103160
272 N>H No ClinGen
TOPMed
rs758620003
CA5793228
272 N>K No ClinGen
ExAC
gnomAD
rs752907443
CA5793226
273 A>E No ClinGen
ExAC
gnomAD
rs752907443
CA378944576
273 A>V No ClinGen
ExAC
gnomAD
rs942468617
CA216970905
275 L>V No ClinGen
TOPMed
CA378944537
rs1396787401
276 S>F No ClinGen
gnomAD
rs766939366
CA5793222
277 W>* No ClinGen
ExAC
gnomAD
CA378944514
rs777043780
277 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA5793223
rs777043780
277 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs376968788
CA5793221
278 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1171104679
CA378944416
279 R>* No ClinGen
TOPMed
gnomAD
CA5793220
rs773727065
279 R>Q No ClinGen
ExAC
gnomAD
rs1426407248
CA378944386
280 A>D No ClinGen
TOPMed
gnomAD
rs772499627
CA5793219
280 A>P No ClinGen
ExAC
gnomAD
CA5793218
rs749015751
281 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA5793216
rs769240188
282 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs745355777
CA5793212
285 L>M No ClinGen
ExAC
gnomAD
CA378944261
rs1252429427
285 L>P No ClinGen
gnomAD
rs1168139248
CA378944193
287 P>A No ClinGen
TOPMed
CA5793210
rs757197761
287 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA378944152
rs757197761
287 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA216970833
rs954810231
290 K>E No ClinGen
gnomAD
rs1310933713
CA378943948
291 W>* No ClinGen
TOPMed
gnomAD
rs1414539386
CA378943912
292 R>* No ClinGen
gnomAD
CA378943905
rs758172690
292 R>L No ClinGen
ExAC
gnomAD
rs758172690
CA5793207
292 R>Q No ClinGen
ExAC
gnomAD
rs755114027
CA5793204
299 L>F No ClinGen
ExAC
gnomAD
rs373872718
CA216970818
302 Y>C No ClinGen
ESP
TOPMed
rs1295353338
CA378943323
304 M>V No ClinGen
TOPMed
CA378943243
rs1369829408
305 D>G No ClinGen
gnomAD
TCGA novel 305 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768941590
CA216970795
307 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs766313099
CA5793201
307 A>T No ClinGen
ExAC
gnomAD
COSM932838
CA5793200
rs768941590
307 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs762249594
CA5793197
308 T>A No ClinGen
ExAC
gnomAD
CA216970786
rs149684575
308 T>I No ClinGen
ESP
gnomAD
rs878890981
CA216970782
309 S>F No ClinGen
Ensembl
rs1023635066
CA216970781
310 K>R No ClinGen
TOPMed
rs1487517317
CA378942997
311 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5793195
rs769521441
312 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs893719722
CA216970774
312 A>V No ClinGen
Ensembl
CA5793194
rs745451507
COSM178087
313 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5793193
rs776207830
313 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA216970766
rs770419040
316 V>I No ClinGen
ExAC
gnomAD
CA5793192
rs770419040
316 V>L No ClinGen
ExAC
gnomAD
rs1589839862
CA378942835
317 V>D No ClinGen
Ensembl
rs573813834
CA378942842
317 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5793190
rs573813834
317 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5793187
CA5793188
rs761220629
318 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs778522335
CA5793186
319 A>V No ClinGen
ExAC
gnomAD
rs772721428
CA5793153
322 I>S No ClinGen
ExAC
gnomAD
CA378936557
rs1441106376
324 T>I No ClinGen
gnomAD
CA378936509
rs1216459839
328 H>R No ClinGen
TOPMed
CA5793150
rs774142546
330 P>S No ClinGen
ExAC
gnomAD
rs1127800
CA378936472
331 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793148
rs1127800
VAR_031173
331 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5793149
rs142743201
331 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775389483
CA5793147
332 M>I No ClinGen
ExAC
gnomAD
rs1371190923
CA378936438
334 W>* No ClinGen
Ensembl
rs1449934133
CA378936426
335 D>N No ClinGen
TOPMed
gnomAD
CA378936401
rs1245837767
336 S>I No ClinGen
TOPMed
CA5793145
rs746032586
337 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs6682
CA216958713
338 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5793143
rs757268762
338 A>T No ClinGen
ExAC
gnomAD
rs6682
CA5793142
VAR_031174
338 A>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374232737
CA5793141
340 E>G No ClinGen
ESP
ExAC
gnomAD
CA378936348
rs1326860808
340 E>K No ClinGen
TOPMed
gnomAD
CA378936345
rs1326860808
340 E>Q No ClinGen
TOPMed
gnomAD
rs370672044
CA5793140
341 H>Y No ClinGen
ESP
ExAC
gnomAD
rs765526454
CA5793138
342 F>L Variant assessed as Somatic; 4.734e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378936286
rs1589810818
342 F>S No ClinGen
Ensembl
CA378936292
rs1417546339
342 F>V No ClinGen
gnomAD
CA5793136
rs142808709
343 F>L No ClinGen
ESP
ExAC
gnomAD
CA5793137
rs755766935
343 F>L No ClinGen
ExAC
gnomAD
rs772327238
CA216958705
344 E>D No ClinGen
TOPMed
gnomAD
CA378936255
rs1201815172
344 E>K No ClinGen
TOPMed
gnomAD
rs761206835
CA5793134
346 K>Q No ClinGen
ExAC
gnomAD
rs774390750
CA5793133
347 K>* No ClinGen
ExAC
gnomAD
rs1441853400
CA378935918
349 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5793109
rs140476082
349 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5793108
rs370593417
350 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 354 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378935660
rs748714060
354 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs748714060
CA5793105
354 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs138166915
CA5793104
355 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138166915
CA378935589
355 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769049099
CA5793103
356 F>Y No ClinGen
ExAC
gnomAD
rs1589809839
CA378935492
357 Y>C No ClinGen
Ensembl
rs1589809823
CA378935393
359 T>P No ClinGen
Ensembl
rs761978057
CA5793067
362 S>Y No ClinGen
ExAC
gnomAD
CA5793065
rs764097989
363 L>M No ClinGen
ExAC
gnomAD
CA5793063
rs763441480
364 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5793061
rs374883925
366 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5793062
rs142286202
366 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771863477
CA5793059
368 E>A No ClinGen
ExAC
gnomAD
rs771863477
CA5793058
368 E>G No ClinGen
ExAC
gnomAD
rs1210528761
CA378934630
369 L>V No ClinGen
gnomAD
rs747733825
CA378934588
371 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5793056
rs778633553
371 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5793057
rs747733825
371 R>W Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754522495
CA5793055
373 L>P No ClinGen
ExAC
gnomAD
rs750256778
CA5793051
375 V>A No ClinGen
ExAC
gnomAD
CA5793052
rs556045828
375 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1372720094
CA378934357
377 V>F No ClinGen
TOPMed
gnomAD
CA216958286
rs754145886
378 S>C No ClinGen
TOPMed
gnomAD
rs1468389732
CA378934204
380 W>* No ClinGen
gnomAD
rs934223496
CA216958275
382 L>P No ClinGen
TOPMed
gnomAD
rs1369931568
CA378934133
382 L>V No ClinGen
gnomAD
CA5793047
rs545997593
383 G>D No ClinGen
1000Genomes
ExAC
CA5793048
rs751780638
383 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1199673911
CA378933966
386 L>R No ClinGen
gnomAD
rs775388800
CA5793044
387 D>V No ClinGen
ExAC
rs1303411346
CA378933918
388 Y>D No ClinGen
TOPMed
rs1378154990
CA378933884
389 F>Y No ClinGen
TOPMed
rs765793433
CA378933862
390 Y>C No ClinGen
ExAC
gnomAD
CA378933872
rs1251345734
390 Y>N No ClinGen
TOPMed
gnomAD
rs765793433
CA5793043
390 Y>S No ClinGen
ExAC
gnomAD
CA5793041
rs777138598
391 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs182950163
CA216958253
393 L>F No ClinGen
1000Genomes
gnomAD

No associated diseases with Q9BWS9

2 regional properties for Q9BWS9

Type Name Position InterPro Accession
domain Glycoside hydrolase family 18, catalytic domain 79 - 393 IPR001223
domain Chitinase II 79 - 385 IPR011583

Functions

Description
EC Number
Subcellular Localization
  • Secreted
  • Lysosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
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.
late endosome A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

2 GO annotations of molecular function

Name Definition
chitin binding Binding to chitin, a linear polysaccharide consisting of beta-(1->4)-linked N-acetyl-D-glucosamine residues.
oligosaccharide binding Binding to an oligosaccharide, a molecule with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.

3 GO annotations of biological process

Name Definition
carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5EAB4 CHID1 Chitinase domain-containing protein 1 Bos taurus (Bovine) PR
Q922Q9 Chid1 Chitinase domain-containing protein 1 Mus musculus (Mouse) PR
A0JPQ9 Chid1 Chitinase domain-containing protein 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MRTLFNLLWL ALACSPVHTT LSKSDAKKAA SKTLLEKSQF SDKPVQDRGL VVTDLKAESV
70 80 90 100 110 120
VLEHRSYCSA KARDRHFAGD VLGYVTPWNS HGYDVTKVFG SKFTQISPVW LQLKRRGREM
130 140 150 160 170 180
FEVTGLHDVD QGWMRAVRKH AKGLHIVPRL LFEDWTYDDF RNVLDSEDEI EELSKTVVQV
190 200 210 220 230 240
AKNQHFDGFV VEVWNQLLSQ KRVGLIHMLT HLAEALHQAR LLALLVIPPA ITPGTDQLGM
250 260 270 280 290 300
FTHKEFEQLA PVLDGFSLMT YDYSTAHQPG PNAPLSWVRA CVQVLDPKSK WRSKILLGLN
310 320 330 340 350 360
FYGMDYATSK DAREPVVGAR YIQTLKDHRP RMVWDSQASE HFFEYKKSRS GRHVVFYPTL
370 380 390
KSLQVRLELA RELGVGVSIW ELGQGLDYFY DLL