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 Q8IZP7

Entry ID Method Resolution Chain Position Source
AF-Q8IZP7-F1 Predicted AlphaFoldDB

397 variants for Q8IZP7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1463670962
CA388678652
3 E>D No ClinGen
gnomAD
rs767415756
CA7023341
4 R>K No ClinGen
ExAC
gnomAD
CA7023340
rs767415756
4 R>M No ClinGen
ExAC
gnomAD
CA388678665
rs1594672267
5 F>L No ClinGen
Ensembl
rs755841123
CA7023342
6 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA7023343
rs766044241
9 L>P No ClinGen
ExAC
gnomAD
CA7023344
rs753305976
13 V>G No ClinGen
ExAC
gnomAD
CA388678717
rs1200124912
14 L>V No ClinGen
TOPMed
rs1318099792
CA388678726
15 T>I No ClinGen
TOPMed
rs1420209243
CA388678729
16 L>V No ClinGen
TOPMed
gnomAD
rs200021006
CA7023345
17 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388678745
rs1337031941
18 F>L No ClinGen
gnomAD
CA7023347
rs142119153
21 I>L No ClinGen
ESP
ExAC
gnomAD
CA388678771
rs1395852477
22 M>I No ClinGen
TOPMed
CA388678775
COSM1677752
rs1450259717
23 Y>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs757556487
CA7023348
25 Y>C No ClinGen
ExAC
gnomAD
CA388678801
rs1306326985
26 V>A No ClinGen
gnomAD
rs1223167840
CA388678799
26 V>M No ClinGen
gnomAD
CA7023350
rs746053200
27 S>F No ClinGen
ExAC
gnomAD
CA388678806
rs746053200
27 S>Y No ClinGen
ExAC
gnomAD
CA7023352
rs780450829
28 P>L No ClinGen
ExAC
CA7023351
rs368968234
28 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388678827
rs1466351843
31 T>A No ClinGen
TOPMed
CA388678829
rs749310541
31 T>N No ClinGen
ExAC
gnomAD
CA7023354
rs749310541
31 T>S No ClinGen
ExAC
gnomAD
CA7023355
rs768919486
32 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA255152955
rs200686308
34 C>Y No ClinGen
Ensembl
rs969304179
CA255152956
36 N>S No ClinGen
TOPMed
gnomAD
CA7023356
rs774156626
37 F>L No ClinGen
ExAC
gnomAD
rs761853786
CA7023357
38 G>R No ClinGen
ExAC
gnomAD
CA7023359
rs773012377
41 P>S No ClinGen
ExAC
gnomAD
CA388678899
rs1390905665
42 R>C No ClinGen
gnomAD
TCGA novel 42 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412407517
CA388678905
43 A>S No ClinGen
gnomAD
rs375039520
CA7023361
44 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs375039520
CA7023362
44 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA7023363
rs146203986
45 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764795172
CA7023364
46 A>V No ClinGen
ExAC
gnomAD
rs199618938
CA7023365
48 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs952506115
CA255152957
48 P>Q No ClinGen
TOPMed
gnomAD
CA7023369
rs750758063
50 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs781568425
CA7023367
50 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7023368
rs750758063
50 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs780413956
CA7023370
51 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7023373
rs779101559
52 P>L No ClinGen
ExAC
gnomAD
rs768829684
CA7023372
52 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA388678957
rs1476812587
53 G>A No ClinGen
TOPMed
gnomAD
rs1476812587
CA388678958
53 G>V No ClinGen
TOPMed
gnomAD
rs1162677281
CA388678960
54 P>A No ClinGen
TOPMed
TCGA novel 54 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388678961
rs1162677281
54 P>T No ClinGen
TOPMed
CA7023375
rs772006130
55 A>S No ClinGen
ExAC
gnomAD
rs1366603219
CA388678972
56 R>C No ClinGen
TOPMed
CA388678973
rs1409215736
56 R>L No ClinGen
TOPMed
gnomAD
CA388678979
rs1440052509
57 R>P No ClinGen
TOPMed
rs1594672438
CA388678977
57 R>W No ClinGen
Ensembl
CA7023376
rs773030031
58 A>G No ClinGen
ExAC
gnomAD
rs760406251
CA7023377
60 A>E No ClinGen
ExAC
gnomAD
rs1237235400
CA388679002
61 P>L No ClinGen
TOPMed
CA7023378
rs770770230
62 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1267458299
CA388679013
63 E>A No ClinGen
TOPMed
rs776259604
CA7023379
64 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1594672459
CA388679027
65 W>G No ClinGen
Ensembl
TCGA novel 66 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388679034
rs1354906269
66 E>K No ClinGen
TOPMed
rs921525067
CA255152958
67 R>Q No ClinGen
TOPMed
CA388679046
rs1566879487
68 R>W No ClinGen
Ensembl
rs1353429550
CA388679061
70 Q>R No ClinGen
TOPMed
CA388679074
rs1330631202
72 P>S No ClinGen
TOPMed
gnomAD
rs1219432944
CA388679082
73 P>L No ClinGen
TOPMed
gnomAD
CA255152959
rs932883553
73 P>S No ClinGen
TOPMed
gnomAD
CA388679087
rs1434543953
74 P>R No ClinGen
TOPMed
gnomAD
CA255152960
rs1043618847
75 P>S No ClinGen
TOPMed
gnomAD
rs1420151029
CA388679095
76 R>W No ClinGen
TOPMed
rs934765732
CA255152961
77 G>E No ClinGen
TOPMed
rs1211171924
CA388679101
77 G>R No ClinGen
TOPMed
gnomAD
rs1217969300
CA388679107
78 P>H No ClinGen
TOPMed
rs764629460
CA7023382
78 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs764629460
CA388679105
78 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1284327720
CA388679115
79 P>L No ClinGen
TOPMed
TCGA novel 79 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202503369
CA388679116
80 E>K No ClinGen
TOPMed
rs1223921065
CA388679127
81 G>E No ClinGen
gnomAD
rs1362150104
CA388679124
81 G>R No ClinGen
TOPMed
gnomAD
CA388679132
rs1449421544
82 P>R No ClinGen
gnomAD
rs547017074
CA7023384
82 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388679137
rs1478518650
83 R>Q No ClinGen
TOPMed
gnomAD
rs1474879980
CA388679150
85 A>G No ClinGen
TOPMed
gnomAD
CA388679146
rs1242407333
85 A>T No ClinGen
TOPMed
gnomAD
rs1474879980
CA388679151
85 A>V No ClinGen
TOPMed
gnomAD
CA388679161
rs1186375363
87 A>E No ClinGen
TOPMed
gnomAD
rs1186375363
CA388679163
87 A>V No ClinGen
TOPMed
gnomAD
CA388679168
rs1566879554
88 P>R No ClinGen
Ensembl
rs1594672536
CA388679164
88 P>T No ClinGen
Ensembl
CA7023386
rs762396340
90 E>K No ClinGen
ExAC
gnomAD
rs1390080419
CA388679190
91 E>V No ClinGen
gnomAD
CA255152965
rs1027268963
93 E>Q No ClinGen
TOPMed
rs1425161456
CA388679216
95 P>S No ClinGen
TOPMed
CA255152966
rs952537245
96 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 96 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388679233
rs767998739
97 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA388679228
rs1320533006
97 D>H No ClinGen
gnomAD
CA7023388
rs750904009
98 P>L No ClinGen
ExAC
gnomAD
rs750904009
CA388679239
98 P>R No ClinGen
ExAC
gnomAD
rs756546564
CA7023389
99 R>G No ClinGen
ExAC
gnomAD
rs780608215
CA7023390
99 R>Q No ClinGen
ExAC
TOPMed
CA388679250
rs1247316859
100 E>D No ClinGen
gnomAD
CA388679244
rs1385485454
100 E>Q No ClinGen
gnomAD
rs1594672592
CA388679284
105 E>A No ClinGen
Ensembl
TCGA novel 105 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1446015396
CA388679298
107 E>Q No ClinGen
gnomAD
CA388679312
rs570109434
CA388679311
108 D>E No ClinGen
1000Genomes
TOPMed
rs1206472409
CA388679326
110 P>L No ClinGen
gnomAD
TCGA novel 111 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244714799
CA388679327
111 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1003943845
CA255152969
112 P>S No ClinGen
TOPMed
gnomAD
rs1268310394
COSM1368111
CA388679342
113 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 113 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748194459
CA7023394
114 A>T No ClinGen
ExAC
gnomAD
CA388679352
rs1471123689
114 A>V No ClinGen
TOPMed
gnomAD
CA255152971
rs1014953527
115 P>A No ClinGen
Ensembl
rs758423490
CA7023395
115 P>R No ClinGen
ExAC
gnomAD
CA388679377
rs1318837136
118 G>D No ClinGen
gnomAD
CA388679373
rs747013290
118 G>R No ClinGen
ExAC
gnomAD
CA7023397
COSM1368112
rs747013290
118 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs539388986
CA7023400
119 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7023399
rs776458825
119 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA388679385
rs1278564509
120 L>P No ClinGen
gnomAD
CA7023401
rs769443893
121 P>S No ClinGen
ExAC
gnomAD
COSM3688797
CA7023402
rs775008092
122 R>G Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388679394
rs1445017268
122 R>P No ClinGen
gnomAD
CA388679393
rs1445017268
122 R>Q No ClinGen
gnomAD
CA388679403
rs1174701731
123 F>L No ClinGen
Ensembl
CA388679398
rs1464628152
123 F>V No ClinGen
TOPMed
rs763581675
CA7023404
125 P>Q No ClinGen
ExAC
gnomAD
CA7023403
rs762464615
125 P>S No ClinGen
ExAC
gnomAD
rs1226165605
CA388679417
126 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA388679429
rs1418041661
128 N>D No ClinGen
TOPMed
TCGA novel 130 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7023407
rs202155118
132 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 133 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7023408
rs754216164
134 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA7023409
rs755302154
135 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA388679484
rs1472337372
136 R>H No ClinGen
gnomAD
rs1472337372
CA388679486
136 R>L No ClinGen
gnomAD
CA7023410
rs765443028
137 F>C No ClinGen
ExAC
gnomAD
rs1185788411
CA388679493
137 F>L No ClinGen
TOPMed
rs185615621
CA7023411
138 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs926138268
CA255152973
139 D>G No ClinGen
TOPMed
gnomAD
CA388679508
rs1316136922
140 F>V No ClinGen
TOPMed
rs1330205327
CA388679519
141 N>K No ClinGen
gnomAD
rs150396139
CA7023413
141 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388679517
rs150396139
141 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388679531
rs1473659149
143 K>R No ClinGen
gnomAD
rs139534660
CA255152974
COSM107781
145 R>C skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA388679544
rs1284652600
145 R>H No ClinGen
gnomAD
CA7023421
rs577304138
157 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs753365436 158 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA388679633
rs1196287234
158 G>D No ClinGen
gnomAD
TCGA novel 158 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445485820
CA388679682
166 V>L No ClinGen
TOPMed
rs1392313548
CA388679703
169 I>V No ClinGen
gnomAD
CA7023424
rs761444493
170 R>W No ClinGen
ExAC
gnomAD
rs766926849
CA7023425
172 E>G No ClinGen
ExAC
gnomAD
TCGA novel 177 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376261301
CA388679767
178 K>R No ClinGen
TOPMed
gnomAD
rs752931338
CA388679774
179 A>E No ClinGen
ExAC
gnomAD
CA7023428
rs142109918
179 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752931338
CA7023429
179 A>V No ClinGen
ExAC
gnomAD
CA388679778
rs758596974
180 G>D No ClinGen
ExAC
gnomAD
CA7023430
rs758596974
180 G>V No ClinGen
ExAC
gnomAD
rs1054334972
CA255152977
181 Q>E No ClinGen
TOPMed
gnomAD
rs965100269
CA255152978
182 K>T No ClinGen
TOPMed
CA7023431
rs546169910
185 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388679813
rs546169910
185 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs370156586
CA7023432
187 H>R No ClinGen
ESP
ExAC
gnomAD
CA388679830
rs781047206
188 R>G No ClinGen
ExAC
gnomAD
TCGA novel 188 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7023434
rs781047206
188 R>W No ClinGen
ExAC
gnomAD
TCGA novel 190 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411212330
CA388679844
190 G>V No ClinGen
gnomAD
CA388679846
rs1227802489
191 K>Q No ClinGen
gnomAD
rs755909244
CA7023437
194 T>A No ClinGen
ExAC
gnomAD
CA388679879
rs1222344701
195 W>S No ClinGen
TOPMed
TCGA novel 197 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388679921
rs1289431364
201 S>F No ClinGen
gnomAD
CA388679925
rs1452131799
202 T>A No ClinGen
TOPMed
CA388679924
rs1452131799
202 T>P No ClinGen
TOPMed
rs900676719
CA255152979
203 G>S No ClinGen
Ensembl
rs779764665
CA7023438
205 S>G No ClinGen
ExAC
gnomAD
CA7023439
rs199763203
205 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs768156865
CA388679948
205 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA388679960
rs1430526917
207 G>W No ClinGen
gnomAD
TCGA novel 210 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA255152980
rs932185827
211 D>H No ClinGen
TOPMed
gnomAD
CA388679983
rs932185827
211 D>N No ClinGen
TOPMed
gnomAD
rs1448166117
CA388680030
217 N>I No ClinGen
TOPMed
gnomAD
CA388680029
rs1448166117
217 N>S No ClinGen
TOPMed
gnomAD
CA7023443
rs747605056
218 C>Y No ClinGen
ExAC
gnomAD
CA388680041
rs1457026412
219 V>L No ClinGen
gnomAD
CA388680051
rs1291290522
220 P>L No ClinGen
gnomAD
rs771767570
CA388680064
222 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7023445
rs777275367
223 M>R No ClinGen
ExAC
gnomAD
rs1566879802
CA388680074
224 E>K No ClinGen
Ensembl
CA388680101
rs1319596279
227 D>G No ClinGen
gnomAD
rs759999343
CA7023447
228 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA388680112
rs1248050793
229 P>T No ClinGen
gnomAD
rs770170732
CA7023448
230 R>C No ClinGen
ExAC
gnomAD
rs1301808006
CA388680120
230 R>H No ClinGen
TOPMed
CA7023449
rs145937254
232 H>P No ClinGen
ExAC
gnomAD
CA255152981
rs956242483
233 S>R No ClinGen
TOPMed
rs563195462
CA7023450
234 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1486945799
CA388680157
235 T>I No ClinGen
gnomAD
rs1209634121
CA388680158
236 R>G No ClinGen
gnomAD
CA255501992
COSM949052
rs897776283
238 F>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs760818583
CA7023477
238 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1225612964
CA388682472
239 Y>C No ClinGen
gnomAD
CA255501993
rs927498549
241 I>L No ClinGen
TOPMed
gnomAD
CA7023479
rs547660939
243 M>I No ClinGen
1000Genomes
ExAC
CA388682499
rs952199755
243 M>K No ClinGen
TOPMed
CA255501994
rs952199755
243 M>T No ClinGen
TOPMed
rs1312028803
CA388682497
243 M>V No ClinGen
gnomAD
CA7023481
rs774015751
248 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA7023480
rs373578498
248 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA255501995
rs577710385
250 R>C No ClinGen
Ensembl
CA255501996
rs761740630
250 R>H No ClinGen
Ensembl
CA388682565
rs1484788053
254 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs984579124
CA255501997
259 Q>R No ClinGen
TOPMed
rs761937904
CA255501998
263 T>I No ClinGen
Ensembl
rs1467066285
CA388682634
264 W>R No ClinGen
TOPMed
COSM1607283
rs1431291170
CA388682638
264 W>S liver [Cosmic] No ClinGen
cosmic curated
gnomAD
VAR_028159
rs9516771
CA7023489
265 K>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7023491
rs533169440
267 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs748546537
CA7023492
268 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs748546537
CA388682662
268 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs772219507
CA388682670
269 H>P No ClinGen
ExAC
gnomAD
rs772219507
CA7023493
269 H>R No ClinGen
ExAC
gnomAD
rs370498700
CA7023494
270 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388682675
rs1406969243
270 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 273 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs878918117
CA255501999
273 G>R No ClinGen
Ensembl
CA7023496
rs766548912
274 R>S No ClinGen
ExAC
TOPMed
CA388682713
rs1367340948
275 S>I No ClinGen
gnomAD
CA388682716
rs1217766729
275 S>R No ClinGen
gnomAD
rs1343439499
CA388682730
278 P>A No ClinGen
gnomAD
rs1205117891
CA388682734
278 P>L No ClinGen
gnomAD
CA7023499
rs765286528
279 D>G No ClinGen
ExAC
CA7023498
rs759593534
279 D>H No ClinGen
ExAC
gnomAD
TCGA novel 279 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1180606417
CA388682741
280 E>K No ClinGen
TOPMed
rs111276045
CA255502000
281 L>M No ClinGen
Ensembl
CA7023502
rs763591899
282 P>L No ClinGen
ExAC
gnomAD
CA388682753
rs1221834783
282 P>T No ClinGen
gnomAD
rs558493144
CA7023503
283 T>I No ClinGen
ExAC
gnomAD
CA388682782
rs1210783544
286 P>R No ClinGen
TOPMed
rs149905583
CA7023504
286 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs971130663
CA255502002
288 D>N No ClinGen
TOPMed
CA388682804
rs1387836837
289 D>E No ClinGen
gnomAD
rs1448759577
CA388682812
290 W>C No ClinGen
gnomAD
rs1166694394
CA388682817
291 S>Y No ClinGen
gnomAD
CA388682850
rs191316541
296 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7023508
rs191316541
296 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7023506
rs150881911
296 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7023509
rs142184149
299 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7023510
rs772545385
300 D>G No ClinGen
ExAC
gnomAD
rs868456363
CA255502004
302 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 307 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1366428830
CA388682926
307 N>S No ClinGen
TOPMed
gnomAD
rs1054566348
CA255502006
308 N>S No ClinGen
TOPMed
gnomAD
CA255502007
rs144389562
309 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
rs763499432
CA7023511
309 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs763499432
CA388682940
309 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1228332409
COSM697170
CA388682947
310 Q>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA388682941
rs1360973604
310 Q>K No ClinGen
gnomAD
rs747297518
CA7023512
312 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388682957
COSM311860
rs770895513
312 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7023513
rs770895513
312 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA388682978
rs1566464558
315 A>V No ClinGen
Ensembl
TCGA novel 317 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388683000
rs1464319337
318 S>R No ClinGen
gnomAD
rs1244825117
CA388683047
325 L>F No ClinGen
TOPMed
gnomAD
rs1413207592
CA388683067
328 M>R No ClinGen
gnomAD
CA7023516
rs765198671
328 M>V No ClinGen
ExAC
gnomAD
COSM3943291
CA7023520
rs751137557
330 E>G ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7023518
rs762824439
330 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7023519
rs762824439
330 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 331 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434918736
CA388683114
334 N>K No ClinGen
TOPMed
gnomAD
rs1200274366
CA388683111
334 N>S No ClinGen
TOPMed
rs866128801
CA255502009
339 Q>R No ClinGen
Ensembl
CA388683162
rs1265637589
342 K>E No ClinGen
TOPMed
TCGA novel 342 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388683170
rs1449435488
343 N>D No ClinGen
TOPMed
gnomAD
rs1566464592
CA388683173
343 N>S No ClinGen
Ensembl
CA388683185
rs1283127419
345 L>M No ClinGen
gnomAD
rs761573907
CA7023521
346 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7023522
rs767109653
348 M>V No ClinGen
ExAC
gnomAD
CA388683222
rs1268298882
350 F>C No ClinGen
gnomAD
TCGA novel 350 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388683248
rs1435941989
354 T>A No ClinGen
TOPMed
gnomAD
CA388683249
rs1435941989
354 T>S No ClinGen
TOPMed
gnomAD
CA388683297
rs1347977104
360 T>I No ClinGen
TOPMed
CA388683329
rs1278881977
365 E>Q No ClinGen
TOPMed
rs753269473
CA7023526
366 R>G No ClinGen
ExAC
rs1186699244
CA388683346
367 T>I No ClinGen
TOPMed
gnomAD
CA388683370
rs1471816229
371 K>Q No ClinGen
gnomAD
CA7023530
rs141432230
374 S>C No ClinGen
ESP
ExAC
gnomAD
rs141432230
CA255502011
374 S>F No ClinGen
ESP
ExAC
gnomAD
COSM551995
CA7023531
rs368326730
375 P>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1300322142
CA388683434
380 N>D No ClinGen
TOPMed
CA7023533
rs770052568
380 N>S No ClinGen
ExAC
gnomAD
rs1310677752
CA388683441
381 I>N No ClinGen
gnomAD
CA7023534
rs775560930
381 I>V No ClinGen
ExAC
gnomAD
rs1417931169
CA388683450
382 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761521237
CA7023538
383 R>Q No ClinGen
ExAC
gnomAD
rs774158340
CA7023537
383 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750137502
CA7023540
387 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA388683488
rs1276427992
389 I>V No ClinGen
gnomAD
rs751925902
CA7023542
COSM3711415
391 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 392 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753181449
CA7023543
392 G>V No ClinGen
ExAC
gnomAD
CA7023545
rs778172720
394 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7023546
rs377277765
394 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777469390
CA7023547
COSM432636
396 R>C breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs753503506
CA7023548
396 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7023549
rs746155531
397 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1012757715
CA255502014
398 E>G No ClinGen
TOPMed
rs376423293
CA7023550
398 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7023551
rs780327968
399 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA388683549
rs780327968
399 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7023552
rs749347270
402 F>Y No ClinGen
ExAC
gnomAD
CA7023553
rs768575041
403 L>V No ClinGen
ExAC
gnomAD
CA388683590
rs1428818511
405 M>K No ClinGen
TOPMed
rs1369357269
CA388683587
405 M>L No ClinGen
gnomAD
rs774172996
CA7023555
407 L>F No ClinGen
ExAC
TOPMed
gnomAD
COSM198887
CA7023554
rs774172996
407 L>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7023557
rs368419692
COSM1514391
409 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388683628
rs1176388967
410 Y>F No ClinGen
TOPMed
rs1478351658
CA388683637
412 K>E No ClinGen
TOPMed
TCGA novel 413 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7023559
rs766044434
415 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA7023560
rs776169163
416 Q>R No ClinGen
ExAC
gnomAD
rs758970533
CA7023561
417 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA388683682
COSM1210014
rs1482738025
418 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7023563
rs140922305
420 H>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764600252
CA7023562
420 H>Y No ClinGen
ExAC
gnomAD
CA7023565
rs757636802
425 L>V No ClinGen
ExAC
gnomAD
rs1251826397
CA388683752
428 Q>* No ClinGen
gnomAD
CA388683761
rs1451913311
429 R>T No ClinGen
gnomAD
CA388683771
rs1169728217
430 D>E No ClinGen
gnomAD
CA7023566
rs374919031
431 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388683774
rs374919031
431 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7023567
rs778619413
431 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7023571
rs755071265
434 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7023569
rs200597659
434 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7023572
rs778905293
435 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs866414186
CA255502015
435 R>W No ClinGen
TOPMed
gnomAD
rs955722946
CA255502016
436 E>G No ClinGen
Ensembl
rs1225412009
CA388683810
437 E>G No ClinGen
gnomAD
CA7023577
rs746839989
438 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7023576
rs772945372
COSM3376600
438 R>W pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs200033142
CA7023579
442 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
COSM1737652
CA7023580
rs562169523
442 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs372992635
CA7023581
443 E>K No ClinGen
ESP
ExAC
gnomAD
rs1466549772
CA388683849
444 H>P No ClinGen
TOPMed
rs1166348555
CA388683852
444 H>Q No ClinGen
gnomAD
rs1021841575
CA255502018
444 H>Y No ClinGen
Ensembl
rs774890970
CA7023582
445 R>S No ClinGen
ExAC
gnomAD
CA388683861
rs768159623
446 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1168730621
CA388683863
446 D>E No ClinGen
TOPMed
CA388683862
rs768159623
446 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs762458089
CA7023583
446 D>H No ClinGen
ExAC
gnomAD
CA255502019
rs762458089
446 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 446 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768159623
CA7023584
446 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs202239358
CA7023585
447 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA388683874
rs1435633058
448 Q>E No ClinGen
TOPMed
gnomAD
CA7023586
rs756562993
450 P>T No ClinGen
ExAC
gnomAD
rs112912651
CA7023587
451 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778912839
CA7023590
453 D>G No ClinGen
ExAC
gnomAD
CA7023589
rs754076410
453 D>N No ClinGen
ExAC
gnomAD
CA7023588
rs754076410
453 D>Y No ClinGen
ExAC
gnomAD
CA7023591
rs748286220
454 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA388683914
rs1341090183
454 G>R No ClinGen
gnomAD
CA7023592
rs758295331
455 A>T No ClinGen
ExAC
gnomAD
rs1331474154
CA388683941
458 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA388683943
rs1331474154
458 G>V No ClinGen
gnomAD
rs200967296
CA7023593
459 T>A No ClinGen
1000Genomes
ExAC
gnomAD
COSM3384942
CA7023595
rs770768259
462 E>K pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7023597
rs776338767
463 D>H No ClinGen
ExAC
CA7023596
rs776338767
463 D>N No ClinGen
ExAC
CA7023598
rs769325134
463 D>V No ClinGen
ExAC
gnomAD
CA388683968
rs776338767
463 D>Y No ClinGen
ExAC
rs115169080
CA388684003
467 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs946154865
CA255502022
467 Q>L No ClinGen
TOPMed
gnomAD
rs907243781
CA255502023
470 R>K No ClinGen
TOPMed
gnomAD
rs1158201224
CA388684028
471 W>* No ClinGen
TOPMed
gnomAD

No associated diseases with Q8IZP7

No regional properties for Q8IZP7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8IZP7

Functions

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

2 GO annotations of cellular component

Name Definition
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.

1 GO annotations of molecular function

Name Definition
heparan sulfate 6-O-sulfotransferase activity Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + heparan sulfate = adenosine 3',5'-bisphosphate + heparan sulfate 6-O-sulfate; results in 6-O-sulfation of glucosamine residues in heparan sulfate.

1 GO annotations of biological process

Name Definition
heparan sulfate proteoglycan biosynthetic process, enzymatic modification The modification, often by sulfation, of sugars incorporated into heparan sulfate after polymerization.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9QYK4 Hs6st3 Heparan-sulfate 6-O-sulfotransferase 3 Mus musculus (Mouse) PR
Q3EDG5 TPST Protein-tyrosine sulfotransferase Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDERFNKWLL TPVLTLLFVV IMYQYVSPSC TSSCTNFGEQ PRAGEAGPPA VPGPARRAQA
70 80 90 100 110 120
PPEEWERRPQ LPPPPRGPPE GPRGAAAPEE EDEEPGDPRE GEEEEEEDEP DPEAPENGSL
130 140 150 160 170 180
PRFVPRFNFS LKDLTRFVDF NIKGRDVIVF LHIQKTGGTT FGRHLVKNIR LEQPCSCKAG
190 200 210 220 230 240
QKKCTCHRPG KKETWLFSRF STGWSCGLHA DWTELTNCVP AIMEKKDCPR NHSHTRNFYY
250 260 270 280 290 300
ITMLRDPVSR YLSEWKHVQR GATWKTSLHM CDGRSPTPDE LPTCYPGDDW SGVSLREFMD
310 320 330 340 350 360
CTYNLANNRQ VRMLADLSLV GCYNLTFMNE SERNTILLQS AKNNLKNMAF FGLTEFQRKT
370 380 390 400 410 420
QFLFERTFNL KFISPFTQFN ITRASNVEIN EGARQRIEDL NFLDMQLYEY AKDLFQQRYH
430 440 450 460 470
HTKQLEHQRD RQKRREERRL QREHRDHQWP KEDGAAEGTV TEDYNSQVVR W