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

3 structures for Q9P1W8

Entry ID Method Resolution Chain Position Source
2JJW X-ray 170 A A 29-147 PDB
4I2X X-ray 248 A E/F 29-347 PDB
AF-Q9P1W8-F1 Predicted AlphaFoldDB

392 variants for Q9P1W8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs768767170
CA9729647
2 P>L No ClinGen
ExAC
gnomAD
rs1275372380
CA408001563
2 P>S No ClinGen
TOPMed
CA310813524
rs371896459
4 P>R No ClinGen
Ensembl
CA9729646
rs201306847
4 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs6074959
CA9729645
5 A>S No ClinGen
ExAC
gnomAD
rs1281567353
CA408001540
COSM1307170
6 S>F Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA9729643
rs375442919
7 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202030267
CA9729644
7 W>* No ClinGen
1000Genomes
ExAC
gnomAD
rs199556654
CA310813487
8 P>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA408001532
rs199556654
8 P>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs781714804
CA9729642
9 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs144234748
CA9729641
9 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747567133
CA9729640
11 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs778205397
CA9729639
12 G>C No ClinGen
ExAC
gnomAD
rs371163922
CA9729638
13 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408001493
rs867272459
14 F>L No ClinGen
gnomAD
TCGA novel 19 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752193069
CA9729637
19 L>V No ClinGen
ExAC
gnomAD
rs1230063434
CA408001463
20 L>P No ClinGen
gnomAD
rs764816031
CA9729636
22 G>E No ClinGen
ExAC
gnomAD
rs139502650
CA9729635
23 L>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753560324
CA9729634
24 T>R No ClinGen
ExAC
gnomAD
CA9729632
rs760442783
25 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408001354
rs1183850080
26 V>A No ClinGen
gnomAD
CA408001356
rs1183850080
26 V>E No ClinGen
gnomAD
CA408001353
rs1183850080
26 V>G No ClinGen
gnomAD
rs368139177
CA9729616
26 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750234705
CA9729615
27 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750234705
CA9729614
27 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA9729611
rs752758859
28 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA9729612
rs761688818
28 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA9729609
rs759749841
29 E>G No ClinGen
ExAC
gnomAD
CA9729605
rs201954358
30 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA9729606
rs771321985
30 E>G No ClinGen
ExAC
CA9729607
rs776991507
30 E>Q No ClinGen
ExAC
CA9729603
rs772559713
31 E>G No ClinGen
ExAC
rs779451925
CA9729601
32 L>I No ClinGen
ExAC
CA310807013
rs903588441
33 Q>* No ClinGen
TOPMed
CA310806996
rs576810342
CA408001270
33 Q>H No ClinGen
gnomAD
CA408001258
rs375060745
CA9729600
34 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs960986801
CA310806993
34 M>V No ClinGen
TOPMed
gnomAD
CA9729598
rs202224518
36 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1568735963
CA408001232
37 P>L No ClinGen
Ensembl
CA9729595
rs780854234
40 L>I No ClinGen
ExAC
gnomAD
CA9729594
rs757162144
42 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA310806951
rs770579012
43 V>A No ClinGen
Ensembl
CA408001147
rs1188935483
44 T>K No ClinGen
TOPMed
gnomAD
rs751532170
CA9729593
44 T>P No ClinGen
ExAC
gnomAD
CA9729592
rs775245375
45 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA9729590
rs754024064
47 K>N No ClinGen
ExAC
gnomAD
rs78831862
CA9729589
48 T>P No ClinGen
ExAC
gnomAD
CA9729588
rs760807673
49 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1410500857
CA408001098
49 A>T No ClinGen
TOPMed
CA310806905
rs760807673
49 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs773564663
CA9729587
50 T>S No ClinGen
ExAC
gnomAD
rs772308141
CA9729586
51 L>P No ClinGen
ExAC
gnomAD
rs143978848
CA9729585
54 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1368351044
CA408001024
56 T>A No ClinGen
gnomAD
TCGA novel 60 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9729581
rs138452343
61 V>M No ClinGen
ESP
ExAC
gnomAD
rs200917950
CA310806829
63 P>A No ClinGen
1000Genomes
rs62641738
CA9729579
64 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729578
rs368412754
65 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310806798
rs368412754
65 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148010539
CA9729576
66 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143474967
CA9729577
66 W>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1278147153
CA408000909
67 F>L No ClinGen
TOPMed
CA9729573
rs185871223
70 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9729574
rs185871223
70 V>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA408000870
rs1209729465
70 V>F No ClinGen
gnomAD
CA9729572
rs376352368
72 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408000847
rs1243589287
72 P>Q No ClinGen
TOPMed
CA310806766
rs376352368
72 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA310806746
rs143441100
73 G>S No ClinGen
ESP
rs750582002
COSM1532803
CA9729570
74 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201956131
CA9729571
74 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774712730
COSM1024708
CA408000825
75 E>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408000818
rs1362929974
75 E>D No ClinGen
gnomAD
rs774712730
CA9729567
75 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs774712730
COSM3840461
CA9729568
75 E>Q breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs138635169
CA9729566
80 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA408000742
rs1195538425
81 K>Q No ClinGen
gnomAD
rs763481309
CA9729565
81 K>R No ClinGen
ExAC
gnomAD
TCGA novel 86 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9729564
rs775015713
88 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA310806710
rs770723293
90 T>A No ClinGen
Ensembl
rs745421325
CA9729562
91 V>I No ClinGen
ExAC
gnomAD
CA310806697
rs917125051
93 D>E No ClinGen
TOPMed
CA9729560
rs1555815213
94 L>P No ClinGen
Ensembl
rs1392532853
CA408000566
95 T>I No ClinGen
gnomAD
TCGA novel 96 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA310806679
rs527643862
100 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA408000503
rs1254431356
100 M>V No ClinGen
gnomAD
CA9729558
rs770761854
101 D>G No ClinGen
ExAC
gnomAD
CA9729559
rs575352199
101 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs746738813
CA9729557
103 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408000450
rs1203086520
104 I>N No ClinGen
gnomAD
rs1203086520
CA408000448
104 I>T No ClinGen
gnomAD
CA310806676
rs747816100
104 I>V No ClinGen
Ensembl
rs777710856
COSM175890
CA9729556
105 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs200001337
CA9729555
105 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA310806662
rs200001337
105 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs777710856
CA408000443
105 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs748079541
CA9729554
106 I>T No ClinGen
ExAC
gnomAD
rs370269730
CA9729553
107 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs62641735
CA9729552
108 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA310806637
rs983489368
111 P>S No ClinGen
TOPMed
gnomAD
rs535216502
CA310806630
112 A>E No ClinGen
1000Genomes
CA408000345
rs1339573943
114 V>A No ClinGen
TOPMed
gnomAD
CA408000340
rs1201647688
115 G>C No ClinGen
TOPMed
rs1201647688
CA408000342
115 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1307066876
CA408000331
116 T>I No ClinGen
gnomAD
rs1371812118
CA408000329
117 Y>H No ClinGen
TOPMed
gnomAD
CA9729548
rs751880933
119 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA310806610
rs751880933
119 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA408000308
rs1410520246
120 V>M No ClinGen
TOPMed
CA408000302
rs1167335814
121 K>Q No ClinGen
gnomAD
rs1424811521
CA408000298
121 K>R No ClinGen
gnomAD
CA408000292
rs1251323533
122 F>V No ClinGen
gnomAD
CA9729546
rs763356667
123 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9729545
rs202204320
COSM1024706
123 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1355539089
CA408000271
125 G>E No ClinGen
gnomAD
rs200195769
CA9729543
126 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1329941693
CA408000264
126 S>R No ClinGen
TOPMed
rs897044300
CA310806558
127 P>H No ClinGen
Ensembl
rs1335190516
CA408000260
127 P>S No ClinGen
gnomAD
rs1335190516
CA408000262
127 P>T No ClinGen
gnomAD
rs746685702
CA408000251
CA9729540
128 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA9729538
rs773052108
129 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA9729537
rs146471324
129 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 129 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408000244
rs1385794032
130 V>M No ClinGen
TOPMed
gnomAD
rs62641733
CA310806525
131 E>* No ClinGen
Ensembl
rs778704272
CA9729535
132 F>L No ClinGen
ExAC
gnomAD
CA9729534
rs570107389
133 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA9729533
rs745869898
COSM3404949
133 K>N central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA408000220
rs1568735266
133 K>T No ClinGen
Ensembl
CA9729531
rs757421982
135 G>A No ClinGen
ExAC
gnomAD
CA408000211
rs1436050511
135 G>R No ClinGen
gnomAD
rs895636620
CA310806504
136 P>A No ClinGen
TOPMed
gnomAD
rs778009753
CA9729528
137 G>D No ClinGen
ExAC
gnomAD
CA408000175
COSM576761
rs1211510692
140 M>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA408000170
rs370649250
141 A>G No ClinGen
ESP
TOPMed
gnomAD
rs370649250
CA310806472
141 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs1468867126
CA408000159
143 G>D No ClinGen
gnomAD
CA9729511
rs777955269
145 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA9729509
rs752934849
146 P>L Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758657511
CA9729510
146 P>S No ClinGen
ExAC
gnomAD
rs758657511
CA408000002
146 P>T No ClinGen
ExAC
gnomAD
TCGA novel 147 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61738503
CA9729506
148 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61738503
CA9729507
148 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA407999985
rs1568726383
149 P>H No ClinGen
Ensembl
CA407999982
rs373555109
150 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373555109
COSM443482
CA9729503
150 V>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144100952
CA9729502
152 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729500
rs773968801
153 G>D No ClinGen
ExAC
gnomAD
CA9729501
rs191856632
153 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9729499
rs768475171
154 P>L No ClinGen
ExAC
gnomAD
rs1290175888
CA407999951
155 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9729497
rs775400271
156 A>T No ClinGen
ExAC
gnomAD
rs769779237
CA9729496
156 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407999946
rs1242428697
157 R>G No ClinGen
gnomAD
rs368883967
CA9729494
157 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407999943
rs1600200069
157 R>T No ClinGen
Ensembl
rs1440335373
CA407999929
159 T>I No ClinGen
gnomAD
CA310798159
rs750722835
161 E>K No ClinGen
Ensembl
CA407999906
rs1282079267
163 T>A No ClinGen
gnomAD
rs748421244
CA9729492
164 V>M No ClinGen
ExAC
gnomAD
rs779049465
CA9729491
165 S>R No ClinGen
ExAC
gnomAD
rs1600199998
CA407999878
COSM1532804
167 T>N lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1568726273
CA407999871
168 C>S No ClinGen
Ensembl
TCGA novel 170 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs2277761
CA9729489
171 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729490
rs755370269
171 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs749913117
CA9729486
172 G>A No ClinGen
ExAC
gnomAD
rs749913117
CA9729487
172 G>D No ClinGen
ExAC
gnomAD
CA310798138
rs937565446
172 G>R No ClinGen
Ensembl
COSM285003
rs1208182683
CA407999843
173 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs986816973
CA310798131
173 F>S No ClinGen
TOPMed
CA9729484
rs756766017
174 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs767157809
CA9729485
174 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs756766017
CA407999835
174 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA407999828
rs1383846293
175 P>L No ClinGen
TOPMed
rs763718809
CA9729482
177 D>N No ClinGen
ExAC
gnomAD
CA9729480
rs775275224
178 I>N No ClinGen
ExAC
gnomAD
rs374688687
CA9729481
178 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 179 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766150112
CA9729479
179 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA407999794
rs1215156919
181 K>R No ClinGen
TOPMed
gnomAD
rs980811811
CA310798111
182 W>C No ClinGen
Ensembl
CA9729478
rs759496846
183 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs970408736
CA310798106
183 F>Y No ClinGen
Ensembl
rs1568726146
CA407999772
184 K>R No ClinGen
Ensembl
TCGA novel 185 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9729477
rs773223492
188 E>K No ClinGen
ExAC
gnomAD
CA9729476
rs772163644
190 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA407999729
rs772163644
190 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1482530255
CA407999708
193 Q>P No ClinGen
gnomAD
rs917611496
CA310798100
194 T>N No ClinGen
gnomAD
CA407999700
COSM1225794
rs917611496
194 T>S large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA407999693
rs768776233
CA310798093
195 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs982508134
CA310798097
195 N>S No ClinGen
TOPMed
gnomAD
CA310798090
rs749599207
197 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9729471
rs780598194
198 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1449884872
CA407999673
198 P>S No ClinGen
TOPMed
rs1417353190
CA407999666
199 T>A No ClinGen
TOPMed
rs142262583
CA9729470
199 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA310798073
rs200354721
201 Q>* No ClinGen
1000Genomes
TOPMed
rs995344303
CA310798069
201 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA407999628
rs1294317660
202 S>T No ClinGen
gnomAD
rs746356323
CA9729469
203 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1348870294
CA407999609
204 A>S No ClinGen
TOPMed
gnomAD
CA407999612
rs1348870294
204 A>T No ClinGen
TOPMed
gnomAD
rs1334973840
CA407999603
204 A>V No ClinGen
TOPMed
rs781588891
CA9729468
COSM576763
205 Y>* lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs756787375
CA9729467
206 S>R No ClinGen
ExAC
gnomAD
COSM443480
CA9729466
rs534699318
208 R>C Variant assessed as Somatic; 0.0001848 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs570506979
CA9729465
208 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9729464
rs758047919
211 A>G No ClinGen
ExAC
gnomAD
rs758047919
CA407999536
211 A>V No ClinGen
ExAC
gnomAD
CA407999522
rs1281713774
214 V>I No ClinGen
gnomAD
rs200104645
CA9729461
215 L>V No ClinGen
ExAC
gnomAD
rs768885801
CA9729457
216 D>E No ClinGen
ExAC
gnomAD
rs761896989
CA9729459
216 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs761896989
CA9729458
216 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA407999510
rs1263158236
216 D>Y No ClinGen
TOPMed
CA9729454
rs775904582
217 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9729455
rs775904582
217 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1219947167
CA407999507
217 P>T No ClinGen
gnomAD
CA9729453
rs755894803
218 W>* No ClinGen
ExAC
gnomAD
CA407999500
rs1274128865
218 W>* No ClinGen
gnomAD
CA9729452
rs746301292
219 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs746459913
CA9729449
220 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs186182902
CA9729450
220 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM723584
rs375274090
CA9729448
221 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA407999481
rs148726891
221 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9729447
rs148726891
221 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867426310
COSM1713071
CA310797995
222 S>F Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA9729446
rs372433614
222 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754758888
CA9729445
226 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs147250447
CA9729443
227 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766277023
CA9729442
228 V>M No ClinGen
ExAC
gnomAD
CA9729441
rs760563124
229 A>S No ClinGen
ExAC
gnomAD
CA9729438
rs763166687
231 V>I No ClinGen
ExAC
gnomAD
rs147498898
CA9729437
233 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs569541055
CA9729436
234 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407999405
rs1439146809
234 Q>K No ClinGen
TOPMed
CA310797954
rs917574984
235 G>R No ClinGen
TOPMed
CA407999393
rs1316345736
236 D>N No ClinGen
TOPMed
CA407999391
rs1316345736
236 D>Y No ClinGen
TOPMed
rs982455872
CA310797950
238 L>F No ClinGen
Ensembl
rs776862353
CA9729434
238 L>H No ClinGen
ExAC
gnomAD
CA9729433
COSM2703714
rs771425697
239 R>C Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771425697
CA407999374
239 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs370463374
CA9729432
239 R>H Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370463374
CA407999373
239 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs941997415
CA310797926
241 T>A No ClinGen
TOPMed
CA407999362
rs1262888704
241 T>S No ClinGen
gnomAD
rs951073014
CA310797924
243 N>K No ClinGen
Ensembl
CA407999339
rs1311830350
245 S>P No ClinGen
gnomAD
CA407999317
rs1241097052
248 I>T No ClinGen
gnomAD
rs778389847
CA9729431
248 I>V No ClinGen
ExAC
gnomAD
CA9729430
rs771536811
COSM3404947
249 R>* Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771536811
CA407999314
249 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9729429
rs747718268
249 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778483181
CA407999310
250 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs778483181
CA9729428
250 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs768249416
CA9729409
253 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1423634389
CA407999276
254 L>W No ClinGen
gnomAD
rs1290244218
CA407999261
256 V>F No ClinGen
TOPMed
TCGA novel 257 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370231533
CA310797533
258 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370231533
CA9729406
258 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781217864
CA9729404
260 P>S No ClinGen
ExAC
gnomAD
rs548420665
CA9729403
261 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA310797522
rs1032983737
262 R>K No ClinGen
TOPMed
CA9729401
rs6043409
VAR_049936
263 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA407999215
rs6043409
263 V>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200055053
CA9729402
263 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs753971956
CA9729399
264 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs970135212
CA310797501
265 N>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1389223302
CA407999198
266 Q>R No ClinGen
gnomAD
rs1354029029
CA407999190
267 V>A No ClinGen
TOPMed
rs760893584
CA9729397
268 N>H No ClinGen
ExAC
gnomAD
rs767975166
CA9729395
269 V>I No ClinGen
ExAC
gnomAD
rs1475658105
CA407999156
272 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1024803591
CA310797479
272 Q>R No ClinGen
TOPMed
gnomAD
CA407999119
rs1407233643
277 Y>* No ClinGen
TOPMed
rs1421002880
CA407999125
277 Y>H No ClinGen
gnomAD
CA407999115
rs1251377665
278 P>H No ClinGen
gnomAD
TCGA novel 279 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196245641
CA407999101
280 S>N No ClinGen
gnomAD
CA407999089
rs1271032197
282 Q>* No ClinGen
gnomAD
CA407999086
rs1319116368
282 Q>L No ClinGen
gnomAD
rs547549347
CA9729391
284 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA9729390
rs748895752
285 W>* No ClinGen
ExAC
gnomAD
CA9729389
rs367852522
285 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407999064
rs6034239
286 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs6034239
CA9729387
VAR_049937
286 S>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA9729388
rs142972068
286 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA310797417
rs6034239
286 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757208638
CA9729385
287 E>G No ClinGen
ExAC
gnomAD
rs1454498399
CA407999061
287 E>K No ClinGen
gnomAD
rs1460681957
CA407999033
291 V>E No ClinGen
TOPMed
rs141069067
CA9729381
291 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729382
rs141069067
291 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729378
rs145447195
298 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756394138
CA9729377
299 T>I No ClinGen
ExAC
gnomAD
CA9729376
rs148883600
300 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148883600
CA310797361
300 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407998971
rs1471293832
301 T>P No ClinGen
gnomAD
rs1430296364
CA407998963
302 E>G No ClinGen
TOPMed
rs1469609571
CA407998950
304 K>E No ClinGen
TOPMed
rs762205668
CA9729374
304 K>M No ClinGen
ExAC
gnomAD
CA9729373
rs542506528
305 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA407998944
rs542506528
305 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764721660
CA9729372
307 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9729371
rs370713827
310 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407998897
rs1288820175
311 T>I No ClinGen
TOPMed
CA310797326
rs937488425
313 W>* No ClinGen
TOPMed
CA9729369
rs775068837
313 W>R No ClinGen
ExAC
gnomAD
rs574972022
CA9729368
314 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs200982024
CA9729367
315 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs41275436
CA9729364
316 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA407998847
rs1316683956
319 S>F No ClinGen
gnomAD
CA407998842
rs1322463631
320 D>Y No ClinGen
TOPMed
rs1217126513
CA407998836
321 Q>K No ClinGen
TOPMed
TCGA novel 322 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9729362
rs201051307
323 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA9729363
rs777554720
323 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9729361
rs749290871
324 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA407998811
rs1172046249
324 D>G No ClinGen
gnomAD
rs780208812
CA9729360
326 V>F No ClinGen
ExAC
gnomAD
rs780208812
CA407998802
326 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9729356
rs757606654
329 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA9729357
rs781459773
329 C>R No ClinGen
ExAC
gnomAD
rs576944150
CA9729354
333 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA9729355
rs751933850
333 H>Y No ClinGen
ExAC
gnomAD
CA9729353
rs373199508
334 D>Y No ClinGen
ESP
ExAC
gnomAD
CA407998744
rs1281873519
335 G>R No ClinGen
gnomAD
CA9729352
rs145754609
335 G>V No ClinGen
ESP
ExAC
gnomAD
CA9729349
rs776416912
337 L>P No ClinGen
ExAC
gnomAD
CA9729347
rs41275434
338 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1377290844
CA407998710
340 S>R No ClinGen
gnomAD
rs148596804
CA9729345
342 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729344
rs748098905
342 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA310797149
rs369760423
344 A>S No ClinGen
Ensembl
CA407998680
rs1344323115
346 E>K No ClinGen
TOPMed
CA407998667
rs1476293856
347 V>A No ClinGen
gnomAD
TCGA novel 347 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9729339
rs746007484
353 D>G No ClinGen
ExAC
gnomAD
rs78053816
CA407998623
354 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs78053816
CA9729338
354 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs78053816
CA9729337
354 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9729336
rs751880612
354 Q>P No ClinGen
ExAC
gnomAD
CA9729335
rs778222328
355 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA9729334
rs147969759
355 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1283794975
CA407998587
359 T>I No ClinGen
TOPMed
rs547634798
CA9729332
360 P>H No ClinGen
1000Genomes
ExAC
gnomAD
rs547634798
CA407998582
360 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs777894070
CA9729317
362 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs777894070
CA407998561
362 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777894070
CA407998560
362 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs747232069
CA9729318
362 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs748516544
CA9729315
363 A>S No ClinGen
ExAC
gnomAD
rs748516544
CA310791201
363 A>T No ClinGen
ExAC
gnomAD
rs1405074917
CA407998550
364 S>* No ClinGen
gnomAD
CA407998554
rs1399764109
364 S>T No ClinGen
gnomAD
TCGA novel 365 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA407998544
rs1178495642
365 S>F No ClinGen
TOPMed
gnomAD
CA407998528
rs35062363
368 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9729313
rs35062363
368 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA407998505
rs1465470091
372 I>T No ClinGen
TOPMed
CA407998493
rs1224452521
374 V>D No ClinGen
gnomAD
rs1286427526
CA407998494
374 V>I No ClinGen
gnomAD
rs767134003
CA9729308
375 L>F No ClinGen
ExAC
gnomAD
rs868456979
CA310791171
378 P>H No ClinGen
TOPMed
CA407998471
rs868456979
378 P>R No ClinGen
TOPMed
rs561280167
CA9729306
380 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs761612919
CA9729307
380 Y>H No ClinGen
ExAC
gnomAD
CA9729304
rs762898132
381 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1400827235
CA407998437
383 W>C No ClinGen
gnomAD
CA407998443
rs1160630685
383 W>G No ClinGen
gnomAD
rs1213068429
CA407998442
383 W>L No ClinGen
TOPMed
rs117221203
CA9729302
384 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9729303
rs775455306
384 K>R No ClinGen
ExAC
gnomAD
rs773466471
CA407998430
385 Q>* No ClinGen
ExAC
gnomAD
CA407998429
rs773466471
385 Q>E No ClinGen
ExAC
gnomAD
CA9729300
rs773466471
385 Q>K No ClinGen
ExAC
gnomAD
CA407998419
rs1313223752
386 K>R No ClinGen
TOPMed
CA310791083
rs868485581
388 T>L No ClinGen
Ensembl

No associated diseases with Q9P1W8

8 regional properties for Q9P1W8

Type Name Position InterPro Accession
domain Immunoglobulin C1-set 157 - 236 IPR003597-1
domain Immunoglobulin C1-set 261 - 339 IPR003597-2
domain Immunoglobulin subtype 38 - 133 IPR003599-1
domain Immunoglobulin subtype 256 - 348 IPR003599-2
domain Immunoglobulin-like domain 13 - 119 IPR007110-1
domain Immunoglobulin-like domain 146 - 245 IPR007110-2
domain Immunoglobulin-like domain 252 - 340 IPR007110-3
domain Immunoglobulin V-set domain 36 - 126 IPR013106

Functions

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

3 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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

8 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell.
positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O00241 SIRPB1 Signal-regulatory protein beta-1 Homo sapiens (Human) PR
P78324 SIRPA Tyrosine-protein phosphatase non-receptor type substrate 1 Homo sapiens (Human) PR
10 20 30 40 50 60
MPVPASWPHP PGPFLLLTLL LGLTEVAGEE ELQMIQPEKL LLVTVGKTAT LHCTVTSLLP
70 80 90 100 110 120
VGPVLWFRGV GPGRELIYNQ KEGHFPRVTT VSDLTKRNNM DFSIRISSIT PADVGTYYCV
130 140 150 160 170 180
KFRKGSPENV EFKSGPGTEM ALGAKPSAPV VLGPAARTTP EHTVSFTCES HGFSPRDITL
190 200 210 220 230 240
KWFKNGNELS DFQTNVDPTG QSVAYSIRST ARVVLDPWDV RSQVICEVAH VTLQGDPLRG
250 260 270 280 290 300
TANLSEAIRV PPTLEVTQQP MRVGNQVNVT CQVRKFYPQS LQLTWSENGN VCQRETASTL
310 320 330 340 350 360
TENKDGTYNW TSWFLVNISD QRDDVVLTCQ VKHDGQLAVS KRLALEVTVH QKDQSSDATP
370 380
GPASSLTALL LIAVLLGPIY VPWKQKT