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

1 structures for A0PJZ3

Entry ID Method Resolution Chain Position Source
AF-A0PJZ3-F1 Predicted AlphaFoldDB

403 variants for A0PJZ3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1285824702
CA353502056
4 R>C No ClinGen
gnomAD
CA353502065
rs1390690298
5 S>G No ClinGen
TOPMed
rs1299344518
CA353502103
7 A>G No ClinGen
TOPMed
rs1236741876
CA353502113
8 A>E No ClinGen
TOPMed
gnomAD
CA353502117
rs1236741876
8 A>V No ClinGen
TOPMed
gnomAD
rs960217789
CA76554132
9 A>V No ClinGen
TOPMed
rs992997204
CA76554144
10 L>P No ClinGen
TOPMed
rs1404870201
CA353502131
10 L>V No ClinGen
TOPMed
CA353502172
rs1186157839
14 A>T No ClinGen
gnomAD
rs1446044780
CA353502186
15 L>V No ClinGen
TOPMed
gnomAD
CA76554156
rs978834366
16 A>S No ClinGen
TOPMed
gnomAD
CA353502218
rs1177824046
18 L>M No ClinGen
TOPMed
rs1461078474
CA353502225
18 L>P No ClinGen
TOPMed
rs1241518785
CA353502231
19 L>P No ClinGen
TOPMed
rs1284881475
CA353502253
21 A>V No ClinGen
gnomAD
rs1160218606
CA353502261
22 L>P No ClinGen
TOPMed
gnomAD
rs1448624873
CA353502265
23 L>M No ClinGen
TOPMed
gnomAD
CA353502296
rs1334285351
26 R>S No ClinGen
TOPMed
rs944552494
CA353502330
29 R>C No ClinGen
TOPMed
gnomAD
rs944552494
CA76554199
29 R>G No ClinGen
TOPMed
gnomAD
rs745383897
CA2492841
29 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353502336
rs1366036298
30 A>T No ClinGen
TOPMed
CA76554218
rs897741867
33 P>A No ClinGen
TOPMed
CA76554235
rs994729885
39 P>S No ClinGen
TOPMed
rs888488893
CA76554240
40 A>G No ClinGen
TOPMed
CA353502468
rs1307584542
41 S>P No ClinGen
TOPMed
gnomAD
CA76554245
rs1001516087
42 A>V No ClinGen
TOPMed
CA353502495
rs1575769182
43 P>L No ClinGen
Ensembl
rs1399411911
CA353502498
44 Q>K No ClinGen
gnomAD
rs1335542760
CA353502518
45 R>H No ClinGen
TOPMed
gnomAD
CA353502515
rs1247759200
45 R>S No ClinGen
TOPMed
CA353502523
rs1318129838
46 H>N No ClinGen
gnomAD
rs1387857736
CA353502550
47 P>H No ClinGen
TOPMed
CA353502555
rs1387857736
47 P>L No ClinGen
TOPMed
CA353502546
rs1380873931
47 P>S No ClinGen
TOPMed
CA76554285
rs1020409025
49 P>L No ClinGen
TOPMed
gnomAD
rs1263034397
CA353502580
49 P>S No ClinGen
TOPMed
gnomAD
rs1263034397
CA353502576
49 P>T No ClinGen
TOPMed
gnomAD
rs1202524160
CA353502593
50 V>I No ClinGen
TOPMed
gnomAD
rs1426517826
CA353502609
51 P>A No ClinGen
TOPMed
rs1426517826
CA353502606
51 P>T No ClinGen
TOPMed
rs1490155416
CA353502622
52 A>T No ClinGen
TOPMed
rs1289013713
CA353502644
53 R>H No ClinGen
TOPMed
CA353502662
rs1224047653
54 W>* No ClinGen
TOPMed
CA353502663
rs1224047653
54 W>S No ClinGen
TOPMed
rs1462412316
CA353502688
55 P>R No ClinGen
TOPMed
gnomAD
CA2492842
rs555295462
56 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1296686395
CA353502726
57 P>L No ClinGen
TOPMed
rs1296686395
CA353502724
57 P>Q No ClinGen
TOPMed
CA353502720
rs1575769248
57 P>S No ClinGen
Ensembl
rs1249636725
CA353502756
59 A>S No ClinGen
TOPMed
gnomAD
rs1249636725
CA353502751
59 A>T No ClinGen
TOPMed
gnomAD
CA353502768
rs1395776807
60 L>F No ClinGen
TOPMed
CA76554312
rs979068907
62 G>R No ClinGen
TOPMed
gnomAD
rs1463674120
CA353502865
65 P>L No ClinGen
TOPMed
rs1559721020
CA353502884
66 G>A No ClinGen
Ensembl
CA353502908
rs1575769274
68 R>P No ClinGen
Ensembl
rs1194080399
CA353502947
70 R>L No ClinGen
TOPMed
rs1480099595
CA353502951
71 R>G No ClinGen
TOPMed
CA76554328
rs953079287
72 P>L No ClinGen
TOPMed
gnomAD
CA76554325
rs529400999
72 P>T No ClinGen
Ensembl
rs1451679894
CA353502979
73 P>S No ClinGen
TOPMed
CA353502994
rs1262523175
75 P>S No ClinGen
gnomAD
rs1203284348
CA353503011
78 R>* No ClinGen
gnomAD
CA353503010
rs1203284348
78 R>G No ClinGen
gnomAD
rs1468740943
CA353503018
79 A>E No ClinGen
TOPMed
gnomAD
rs1267344703
CA353503015
79 A>T No ClinGen
TOPMed
gnomAD
rs1468740943
CA353503020
79 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 80 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353503029
rs1393401605
81 R>H No ClinGen
TOPMed
rs911663362
CA76554334
81 R>S No ClinGen
TOPMed
rs1171203154
CA353503054
85 A>V No ClinGen
TOPMed
rs944434283
CA76554336
86 R>K No ClinGen
TOPMed
gnomAD
rs779750574
CA2492843
87 L>P No ClinGen
ExAC
gnomAD
CA353503064
rs779750574
87 L>R No ClinGen
ExAC
gnomAD
rs1181932116
CA353503078
89 K>R No ClinGen
gnomAD
CA353503086
rs1478288117
90 L>F No ClinGen
TOPMed
CA353503091
rs1365003166
91 A>E No ClinGen
gnomAD
rs1005797847
CA76568845
94 P>L No ClinGen
Ensembl
rs1180750271
CA353508887
95 G>E No ClinGen
TOPMed
gnomAD
CA353508879
rs1435552209
95 G>R No ClinGen
gnomAD
rs1476447133
CA353508913
97 P>A No ClinGen
gnomAD
CA353508920
rs1163291212
97 P>L No ClinGen
TOPMed
gnomAD
CA353508929
rs1392341655
98 R>T No ClinGen
gnomAD
CA2492856
rs201097046
99 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2492857
rs751319409
101 Q>E No ClinGen
ExAC
gnomAD
CA353509016
rs1197583181
104 L>R No ClinGen
TOPMed
CA353509010
rs1248027488
104 L>V No ClinGen
TOPMed
CA353509026
rs1559729619
105 P>Q No ClinGen
Ensembl
CA353509047
rs371588992
106 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371588992
CA2492860
106 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA76568936
rs1035083013
107 E>A No ClinGen
TOPMed
gnomAD
rs202243719
CA2492863
107 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1320883739
CA353509100
109 W>C No ClinGen
gnomAD
rs200238382
CA2492864
110 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353509164
rs1230802209
113 A>P No ClinGen
TOPMed
CA76568950
rs538777522
113 A>V No ClinGen
1000Genomes
CA76568952
rs778915784
114 V>G No ClinGen
Ensembl
rs1012688385
CA76568951
114 V>M No ClinGen
Ensembl
rs1022294976
CA76568977
115 V>M No ClinGen
Ensembl
rs1336964798
CA353509253
118 G>D No ClinGen
TOPMed
gnomAD
COSM1193201
CA2492866
rs191393310
119 N>S lung large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773656071
CA2492868
120 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375437631
CA2492867
120 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2492869
rs761224653
121 L>P No ClinGen
ExAC
gnomAD
CA2492871
rs202017831
122 E>G No ClinGen
ExAC
gnomAD
rs771518107
CA2492870
122 E>Q No ClinGen
ExAC
gnomAD
CA2492872
rs759626082
123 E>G No ClinGen
ExAC
gnomAD
CA353509355
rs1575781863
124 T>A No ClinGen
Ensembl
CA2492873
rs765570985
124 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA2492875
rs761582493
125 L>M No ClinGen
ExAC
gnomAD
CA76569042
rs1030885250
CA353509400
127 M>L No ClinGen
gnomAD
rs1030885250
CA353509403
127 M>V No ClinGen
gnomAD
rs565928609
CA2492878
128 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA2492879
rs766263599
129 K>I No ClinGen
ExAC
gnomAD
CA353509456
rs1297396927
129 K>N No ClinGen
gnomAD
CA353509489
rs1324377562
130 S>* No ClinGen
gnomAD
CA353509507
rs1431207548
132 V>M No ClinGen
TOPMed
CA353509529
rs1227176341
133 L>H No ClinGen
gnomAD
TCGA novel 134 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353509567
rs1264941196
136 H>N No ClinGen
gnomAD
rs200389624
CA2492882
137 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA2492883
rs747830124
137 R>K No ClinGen
ExAC
gnomAD
CA353509632
rs1486457024
140 Q>P No ClinGen
gnomAD
rs758727503
CA2492884
142 H>Y No ClinGen
ExAC
gnomAD
CA76569134
rs560318401
143 I>L No ClinGen
TOPMed
gnomAD
rs1449136805
CA353509663
143 I>M No ClinGen
gnomAD
CA2492885
rs778224663
145 T>S No ClinGen
ExAC
gnomAD
rs1432954222
CA353509682
146 E>G No ClinGen
gnomAD
CA353509677
rs1397029344
COSM3775353
146 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs375355056
CA2492886
147 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353509701
rs1358532816
149 L>P No ClinGen
gnomAD
rs1168545306
CA353509722
152 E>D No ClinGen
gnomAD
CA76569152
COSM1048392
rs142024018
152 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs1433984288
CA353509738
154 D>E No ClinGen
gnomAD
CA353509732
rs1362767301
154 D>N No ClinGen
gnomAD
rs1207773433
CA353509750
156 Q>* No ClinGen
TOPMed
CA2492900
rs754546387
157 L>S No ClinGen
ExAC
gnomAD
CA2492901
rs200344844
158 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA76548525
rs920554137
158 R>H No ClinGen
TOPMed
CA353499572
rs920554137
158 R>L No ClinGen
TOPMed
CA2492902
rs752102970
159 Q>* No ClinGen
ExAC
gnomAD
rs752102970
CA353499576
159 Q>K No ClinGen
ExAC
gnomAD
rs558244198
CA76548542
160 W>* No ClinGen
1000Genomes
rs1328995490
CA353499616
161 P>L No ClinGen
gnomAD
CA353499618
rs1245962356
162 D>N No ClinGen
TOPMed
CA353499644
rs375806431
163 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2492903
rs375806431
163 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA76548544
rs930567413
164 Y>C No ClinGen
TOPMed
CA353499657
rs930567413
164 Y>F No ClinGen
TOPMed
rs1222879371
CA353499649
164 Y>H No ClinGen
gnomAD
CA353499665
rs1292079199
COSM1048393
165 T>A Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA2492904
rs777227992
166 K>E No ClinGen
ExAC
gnomAD
rs1203737945
CA353499717
168 F>S No ClinGen
TOPMed
CA2492906
rs757682946
169 E>D No ClinGen
ExAC
gnomAD
rs781781608
CA2492907
170 H>R No ClinGen
ExAC
gnomAD
CA2492908
rs746348106
171 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA76548573
rs919485755
173 Y>C No ClinGen
TOPMed
gnomAD
rs770050400
CA2492909
174 P>S No ClinGen
ExAC
TOPMed
gnomAD
RCV000955319
CA2492910
rs61741328
175 I>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2492911
rs373373047
176 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 177 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353499883
rs1419720271
179 V>A No ClinGen
gnomAD
TCGA novel 182 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201480150
CA2492913
183 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs766154534
CA2492915
185 W>* No ClinGen
ExAC
gnomAD
rs926382704
CA76548636
187 K>T No ClinGen
TOPMed
gnomAD
CA76548651
rs770942464
189 F>S No ClinGen
Ensembl
CA2492917
rs759443878
191 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2492918
rs759443878
191 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA353500073
rs1372556874
191 P>S No ClinGen
TOPMed
CA353500091
rs1559735554
192 C>F No ClinGen
Ensembl
CA2492920
rs762316278
195 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 196 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2492921
rs371098866
197 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309444524
CA353500187
198 F>S No ClinGen
gnomAD
TCGA novel 199 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757737795 200 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2492922
rs144493258
200 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 201 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1559748055
CA353501848
201 V>E No ClinGen
Ensembl
rs754293033
CA2492947
201 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1173453242
CA353501855
202 I>T No ClinGen
TOPMed
rs1347314253
COSM3427872
CA353501852
202 I>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2492949
rs755121331
COSM281601
204 K>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2492950
rs778938847
207 D>G No ClinGen
ExAC
gnomAD
CA353501896
rs1236626860
208 S>* No ClinGen
gnomAD
rs1478387441
CA353501894
208 S>P No ClinGen
TOPMed
rs1310154990
CA353501902
209 L>H No ClinGen
gnomAD
rs992779007
CA76575267
212 V>E No ClinGen
Ensembl
rs960984063
CA76575258
212 V>M No ClinGen
TOPMed
rs1466100030
CA353501923
213 D>N No ClinGen
gnomAD
rs201401211
CA2492954
214 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs745737589
CA2492955
214 T>N No ClinGen
ExAC
gnomAD
rs774450522
CA353501935
215 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM1048394
rs774450522
CA76575292
215 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA76575301
rs997339625
216 V>G No ClinGen
TOPMed
gnomAD
rs775537773
CA2492957
220 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1159637462
CA353501975
221 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1159637462
CA353501976
221 P>R No ClinGen
TOPMed
gnomAD
rs969932049
CA76575349
223 D>G No ClinGen
Ensembl
rs1455977433
CA353501999
225 I>F No ClinGen
TOPMed
gnomAD
rs1455977433
CA353502000
225 I>L No ClinGen
TOPMed
gnomAD
rs1455977433
CA353502001
225 I>V No ClinGen
TOPMed
gnomAD
rs1320261103
CA353502021
227 K>* No ClinGen
gnomAD
rs768591399
CA353502039
228 L>F No ClinGen
ExAC
gnomAD
CA2492959
rs768591399
228 L>V No ClinGen
ExAC
gnomAD
CA353502068
rs1321710754
230 R>S No ClinGen
TOPMed
gnomAD
CA353502095
rs1280072647
232 F>L No ClinGen
gnomAD
CA353502084
rs1330590817
232 F>V No ClinGen
gnomAD
CA353502088
rs1239792484
232 F>Y No ClinGen
gnomAD
CA2492961
rs761338090
234 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs761338090
CA353502120
234 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1575811444
CA353502125
235 T>P No ClinGen
Ensembl
CA353502132
rs1226373692
235 T>S No ClinGen
TOPMed
gnomAD
rs767290497
CA2492962
237 L>F No ClinGen
ExAC
gnomAD
CA2492963
rs200422340
238 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1559748190
CA353502170
238 A>V No ClinGen
Ensembl
CA353502189
rs1211261286
240 M>V No ClinGen
gnomAD
CA2492964
rs368143454
242 P>S No ClinGen
ESP
ExAC
gnomAD
CA2492965
rs766618041
243 E>* No ClinGen
ExAC
gnomAD
rs754415215
CA2492966
243 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs372388479
CA353502252
244 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765667814
CA2492968
245 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA76575403
rs988133671
247 P>T No ClinGen
gnomAD
rs752790818
CA2492969
248 K>T No ClinGen
ExAC
gnomAD
rs758463426
CA2492970
249 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA2492971
rs202183122
250 G>S No ClinGen
ExAC
gnomAD
CA2492973
rs375253586
251 W>L No ClinGen
ESP
ExAC
gnomAD
rs749073216
CA353502367
252 Y>* No ClinGen
ExAC
gnomAD
rs1352316609
CA353502361
252 Y>C No ClinGen
gnomAD
rs779737790
CA2492974
252 Y>D No ClinGen
ExAC
gnomAD
CA353502359
rs1352316609
252 Y>S No ClinGen
gnomAD
rs1444192162
CA353502382
253 S>R No ClinGen
TOPMed
gnomAD
CA2492976
rs369831629
254 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200557116
CA2492977
254 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA76575474
rs762970743
255 F>L No ClinGen
gnomAD
rs183167761
CA2492979
258 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1387447401
CA353502456
259 P>L No ClinGen
gnomAD
CA2492981
rs372234996
261 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772953155
CA2492980
261 Y>N No ClinGen
ExAC
gnomAD
CA2492982
rs558211454
262 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2492983
rs776888696
264 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs888969866
CA76575551
265 G>E No ClinGen
Ensembl
TCGA novel 266 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454900295
CA353502543
266 V>I No ClinGen
gnomAD
TCGA novel 268 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1368142107
CA353502616
270 V>I No ClinGen
gnomAD
rs764141156
CA353502774
277 R>L No ClinGen
ExAC
gnomAD
CA2492988
rs764141156
277 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2492987
COSM1048395
rs758514396
277 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368786211
CA353502797
278 I>M No ClinGen
TOPMed
gnomAD
rs751611796
CA2492989
281 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353502905
rs757455652
283 F>L No ClinGen
ExAC
gnomAD
rs750649919
CA2493014
286 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1464573326
CA353503634
286 S>N No ClinGen
gnomAD
rs754856045
CA2493015
287 M>V No ClinGen
ExAC
gnomAD
CA2493016
rs192148048
290 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353503719
rs1173849608
292 L>P No ClinGen
gnomAD
rs912174021
CA76577072
294 W>R No ClinGen
Ensembl
rs752490957
CA2493017
297 M>T No ClinGen
ExAC
TOPMed
rs1386064549
CA353503849
300 P>S No ClinGen
gnomAD
CA353503863
rs1433868150
301 L>P No ClinGen
gnomAD
CA910155235
rs1280358259
302 Y>* No ClinGen
TOPMed
rs1369088813
CA353503877
302 Y>F No ClinGen
gnomAD
CA353503869
rs746560343
302 Y>H No ClinGen
ExAC
gnomAD
rs746560343
CA2493020
302 Y>N No ClinGen
ExAC
gnomAD
rs1349077204
CA353503894
303 Q>R No ClinGen
TOPMed
CA2493024
rs769392184
306 K>E No ClinGen
ExAC
gnomAD
rs775867982
CA353503988
309 I>L No ClinGen
ExAC
gnomAD
rs775867982
CA2493025
309 I>V No ClinGen
ExAC
gnomAD
CA353504009
rs1328792551
310 T>M No ClinGen
TOPMed
gnomAD
rs1487553549
CA353504040
312 G>* No ClinGen
gnomAD
rs1190618774
CA353504059
313 D>G No ClinGen
gnomAD
TCGA novel 313 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 313 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353504136
rs1472865813
318 N>T No ClinGen
gnomAD
rs199838386
CA2493028
319 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 321 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1409481763
CA353504182
321 F>V No ClinGen
gnomAD
TCGA novel 322 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456435780
CA353504249
325 P>T No ClinGen
gnomAD
CA76577129
rs769939194
326 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1490398406
CA353506747
327 C>G No ClinGen
TOPMed
CA2493045
rs769057585
327 C>Y No ClinGen
ExAC
gnomAD
CA76585861
rs188931943
328 L>F No ClinGen
1000Genomes
CA2493046
rs774756808
329 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA353506788
rs1350334555
329 Y>H No ClinGen
gnomAD
CA353506802
rs1286300963
330 V>I No ClinGen
gnomAD
CA76585873
rs78135180
331 F>S No ClinGen
gnomAD
CA2493047
rs748662470
331 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs764584935
CA76585874
332 P>L No ClinGen
Ensembl
CA353506844
rs1308733474
332 P>T No ClinGen
TOPMed
rs773455451
CA2493049
334 Q>E No ClinGen
ExAC
rs956135670
CA76585887
334 Q>L No ClinGen
TOPMed
gnomAD
CA2493050
rs760769079
COSM177127
335 W>* large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs376190751
CA2493052
338 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762698184
CA2493053
338 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA353507003
rs1405813635
339 P>L No ClinGen
TOPMed
CA353507000
rs1405813635
339 P>R No ClinGen
TOPMed
rs757254135
COSM731629
CA2493056
340 D>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773513552
CA76585942
342 C>S No ClinGen
TOPMed
rs773513552
CA353507053
342 C>Y No ClinGen
TOPMed
rs767379965
CA2493057
343 M>V No ClinGen
ExAC
gnomAD
CA2493060
rs373778273
345 G>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2493062
rs748906124
345 G>A No ClinGen
ExAC
gnomAD
rs373778273
CA2493059
345 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2493061
rs748906124
345 G>V No ClinGen
ExAC
gnomAD
CA76585972
rs1029786775
346 S>R No ClinGen
Ensembl
TCGA novel 348 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 348 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2493063
rs779353758
350 E>Q No ClinGen
ExAC
gnomAD
CA2493066
rs772637127
353 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA353507286
rs772637127
353 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA2493067
rs547893432
353 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA2493065
rs772637127
353 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs748420610
CA2493064
353 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2493068
rs771105101
355 G>V No ClinGen
ExAC
gnomAD
CA353507397
rs1178238337
359 L>P No ClinGen
TOPMed
TCGA novel 362 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353507452
rs1559753158
362 N>S No ClinGen
Ensembl
CA76586013
rs911492363
COSM3765098
363 R>* Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA2493072
rs774203539
363 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2493073
rs774203539
363 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 364 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1179560325
CA353507468
364 G>V No ClinGen
TOPMed
rs367968771
CA2493074
365 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353507515
rs1559753175
366 Y>C No ClinGen
Ensembl
rs771827384
CA2493075
367 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA353507561
rs1440498566
368 D>A No ClinGen
TOPMed
gnomAD
rs569607352
CA76586025
CA2493077
368 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353507558
rs1440498566
368 D>G No ClinGen
TOPMed
gnomAD
CA76586046
rs75794282
369 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
rs753233634
CA2493078
370 K>N No ClinGen
ExAC
gnomAD
rs1274573240
CA353507656
373 T>A No ClinGen
TOPMed
CA2493079
rs754690720
373 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs753117485
CA2493081
374 F>C No ClinGen
ExAC
CA353507708
rs1393332934
375 R>S No ClinGen
TOPMed
rs1374212311
CA353507737
377 L>F No ClinGen
TOPMed
rs775320177
CA76586061
378 Y>C No ClinGen
TOPMed
gnomAD
CA2493082
rs758674747
381 I>L No ClinGen
ExAC
gnomAD
CA353507805
rs758674747
381 I>V No ClinGen
ExAC
gnomAD
CA2493084
rs200291518
382 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2493085
rs570328658
382 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2493083
rs200291518
382 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778304792
CA2493103
387 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs751933157
CA2493104
387 Q>P No ClinGen
ExAC
gnomAD
rs939295493
CA76544816
388 D>V No ClinGen
TOPMed
gnomAD
rs1356557404
CA353497568
389 N>S No ClinGen
gnomAD
rs757848162
CA2493105
390 L>F No ClinGen
ExAC
gnomAD
CA353497594
rs1287100366
391 F>L No ClinGen
gnomAD
TCGA novel 391 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs576709988
CA353497623
392 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2493106
rs576709988
392 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353497647
rs1183514465
393 S>P No ClinGen
gnomAD
CA353497685
rs1437837235
395 Y>N No ClinGen
Ensembl
CA2493107
rs746021152
396 Y>H No ClinGen
ExAC
gnomAD
rs1403099551
CA353497809
401 K>Q No ClinGen
gnomAD
rs749447249
CA2493111
402 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs368358185
CA76544884
402 F>S No ClinGen
ESP
TOPMed
gnomAD
rs749447249
CA2493110
402 F>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 404 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA76544893
rs1011102406
404 E>V No ClinGen
TOPMed
gnomAD
rs1043918545
CA76544898
405 T>I No ClinGen
TOPMed
rs1308567003
CA353497924
406 V>L No ClinGen
gnomAD
CA353497948
rs1372287758
407 H>R No ClinGen
gnomAD
rs755794706
CA76544934
407 H>Y No ClinGen
TOPMed
CA2493114
rs760395909
408 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2493117
rs540651729
409 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2493116
rs777491605
409 L>V No ClinGen
ExAC
CA76544989
rs762722197
410 C>Y No ClinGen
Ensembl
rs1340742441
CA353498021
411 G>E No ClinGen
gnomAD
rs536663438
CA2493118
COSM1048400
412 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA353498035
rs1281977380
412 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353498041
rs1358120137
413 I>V No ClinGen
gnomAD
CA353498072
rs1405662447
414 P>L No ClinGen
gnomAD
CA76545014
rs372119586
416 V>I No ClinGen
ESP
TOPMed
gnomAD
rs762725480
CA2493122
417 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA2493123
rs529655363
417 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA76545033
rs375360453
420 Q>H No ClinGen
ESP
TOPMed
rs368795059
CA2493124
422 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757686888
CA2493125
424 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs750866990
CA76545055
426 K>E No ClinGen
ExAC
gnomAD
CA2493127
rs750866990
426 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 427 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 427 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353498316
rs1559537154
427 R>S No ClinGen
Ensembl
TCGA novel 428 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353498323
rs1384767248
428 A>P No ClinGen
gnomAD
CA2493128
rs756263260
432 H>L No ClinGen
ExAC
gnomAD
CA353498413
rs780017904
432 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs541566998
CA2493130
433 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1047789915
CA76545072
434 I>N No ClinGen
Ensembl
rs371772204
CA2493131
434 I>V No ClinGen
ESP
ExAC
gnomAD
rs563351437
CA353498450
435 I>F No ClinGen
1000Genomes
gnomAD
CA353498463
rs868470491
435 I>M No ClinGen
TOPMed
COSM1425275
rs563351437
CA76545096
435 I>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
CA76545103
rs886089016
437 V>L No ClinGen
Ensembl
CA2493134
rs746864290
439 P>H No ClinGen
ExAC
rs1331791542
CA353498546
440 N>S No ClinGen
TOPMed
gnomAD
rs1331791542
CA353498544
440 N>T No ClinGen
TOPMed
gnomAD
CA353498555
rs1309623993
441 Q>K No ClinGen
gnomAD
rs1559537201
CA353498602
443 H>Y No ClinGen
Ensembl

No associated diseases with A0PJZ3

No regional properties for A0PJZ3

Type Name Position InterPro Accession
No domain, repeats, and functional sites for A0PJZ3

Functions

Description
EC Number 2.4.2.42 Pentosyltransferases
Subcellular Localization
  • Membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

2 GO annotations of molecular function

Name Definition
UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity Catalyzes the reaction: UDP-alpha-D-xylose + -3-O-(beta-D-glucosyl)-L-serine <=> UDP + -3-O-(alpha-D-xylosyl-(1->3)-beta-D-glucosyl)-L-serine.
UDP-xylosyltransferase activity Catalysis of the transfer of a xylosyl group from UDP-xylose to an acceptor molecule.

1 GO annotations of biological process

Name Definition
O-glycan processing The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5EA01 B4GAT1 Beta-1,4-glucuronyltransferase 1 Bos taurus (Bovine) PR
Q5ZKI6 GXYLT1 Glucoside xylosyltransferase 1 Gallus gallus (Chicken) PR
Q66PG4 LARGE2 Xylosyl- and glucuronyltransferase LARGE2s Gallus gallus (Chicken) PR
O43505 B4GAT1 Beta-1,4-glucuronyltransferase 1 Homo sapiens (Human) PR
Q8BWP8 B4gat1 Beta-1,4-glucuronyltransferase 1 Mus musculus (Mouse) PR
Q810K9 Gxylt2 Glucoside xylosyltransferase 2 Mus musculus (Mouse) PR
Q21389 lge-1 Glycosyltransferase-like protein LARGE Caenorhabditis elegans PR
L7YAI7 b4gat1 Beta-1,4-glucuronyltransferase 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MKLRSKAAAL LLLALAALLL ALLSLRAGRA EPPALPARPA SAPQRHPAPV PARWPGPGAL
70 80 90 100 110 120
PGASPGVRRR RPPRPRPRAG RRGAARLEKL ARRPGEPRSF QAVLPPELWI HLAVVACGNR
130 140 150 160 170 180
LEETLVMLKS AVLFSHRKIQ FHIFTEDSLK PEFDKQLRQW PDSYTKKFEH RIYPITFSVG
190 200 210 220 230 240
NPQEWKKLFK PCAAQRLFLP VILKDVDSLL YVDTDVLFLR PVDDIWKLLR LFNSTQLAAM
250 260 270 280 290 300
APEHEIPKIG WYSRFARHPF YGSAGVNSGV MLMNLTRIRS TQFKNSMIPT GLAWEDMLYP
310 320 330 340 350 360
LYQKYKNAIT WGDQDLLNII FYFNPECLYV FPCQWNYRPD HCMYGSNCRE AEHEGVSVLH
370 380 390 400 410 420
GNRGVYHDDK QPTFRALYEA IRDFPFQDNL FQSMYYPLQL KFLETVHTLC GRIPQVFLKQ
430 440
IEKTMKRAYE KHVIIHVGPN QMH