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 Q9H4A9

Entry ID Method Resolution Chain Position Source
AF-Q9H4A9-F1 Predicted AlphaFoldDB

459 variants for Q9H4A9

Variant ID(s) Position Change Description Diseaes Association Provenance
CA283210398
rs543813120
3 P>L No ClinGen
1000Genomes
gnomAD
CA396416397
rs1449916065
4 S>F No ClinGen
gnomAD
rs991058819
CA283210397
5 G>D No ClinGen
TOPMed
gnomAD
CA283210394
rs867172890
7 E>* No ClinGen
Ensembl
rs867172890
CA396416370
7 E>K No ClinGen
Ensembl
TCGA novel 7 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753922139
CA8123351
8 G>S No ClinGen
ExAC
gnomAD
CA8123350
rs374420900
9 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396416326
rs1220243915
10 G>C No ClinGen
gnomAD
CA396416321
rs1340956528
10 G>D No ClinGen
TOPMed
gnomAD
CA396416318
rs1340956528
10 G>V No ClinGen
TOPMed
gnomAD
TCGA novel 11 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200428783
CA283210350
13 G>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA283210354
rs905978611
13 G>S No ClinGen
Ensembl
CA8123349
rs761014774
18 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA283210346
rs761014774
18 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1462370879
CA396416214
19 S>G No ClinGen
gnomAD
CA283210326
rs1005054568
21 L>P No ClinGen
TOPMed
gnomAD
rs767923462
CA283210321
22 L>F No ClinGen
gnomAD
rs767923462
CA396416183
22 L>I No ClinGen
gnomAD
rs768012798
CA8123346
27 L>P No ClinGen
ExAC
gnomAD
CA396416108
rs1200502217
28 Q>* No ClinGen
gnomAD
CA396416088
rs1217066378
29 P>H No ClinGen
gnomAD
CA396416093
rs1300362774
29 P>S No ClinGen
gnomAD
rs1326258554
CA396416074
30 V>A No ClinGen
gnomAD
rs762204698
CA8123343
30 V>L No ClinGen
ExAC
CA8123341
rs539349506
32 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA283210261
rs1030094590
32 C>S No ClinGen
TOPMed
gnomAD
CA8123340
rs762170244
33 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA396416020
rs1374093541
34 Y>N No ClinGen
gnomAD
rs1467680609
CA396415990
35 T>I No ClinGen
gnomAD
rs149049423
CA8123339
35 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1412930113
CA396415972
37 P>S No ClinGen
gnomAD
CA8123337
rs769325455
38 G>A No ClinGen
ExAC
gnomAD
rs780785366
CA396415953
39 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA8123334
rs145012164
39 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780785366
CA8123335
39 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA396415935
rs777610323
40 P>L No ClinGen
ExAC
gnomAD
CA8123332
rs777610323
40 P>R No ClinGen
ExAC
gnomAD
CA8123333
rs746747602
40 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs547189498 41 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8123329
rs752645368
41 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA8123328
rs200981093
42 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396415897
rs1239042849
43 L>F No ClinGen
gnomAD
rs756211499
CA396415876
45 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs756211499
CA8123327
45 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA396415860
rs1393597087
47 G>R No ClinGen
gnomAD
rs1457599759
CA396415840
48 A>V No ClinGen
gnomAD
rs201209256
CA8123326
51 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA396415752
rs1361324012
54 M>T No ClinGen
gnomAD
CA396415730
rs976384250
55 P>L No ClinGen
gnomAD
rs976384250
CA283210182
55 P>R No ClinGen
gnomAD
rs867883223
CA283210183
55 P>S No ClinGen
TOPMed
rs1349607624
CA396415722
56 G>D No ClinGen
TOPMed
rs1378499861
CA396415729
56 G>S No ClinGen
gnomAD
CA396415718
rs1419532600
57 T>A No ClinGen
gnomAD
CA396415703
rs1255377803
58 Y>C No ClinGen
gnomAD
CA8123323
rs762116484
59 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762116484
CA283210171
59 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA396415679
rs1258014906
60 P>L No ClinGen
gnomAD
rs774650281
CA8123322
64 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs764491847
CA8123321
64 L>P No ClinGen
ExAC
gnomAD
CA396415631
rs1320665142
65 S>G No ClinGen
gnomAD
CA283210131
rs1004055130
66 S>N No ClinGen
gnomAD
rs1357710678
CA396415584
68 S>R No ClinGen
gnomAD
CA396415569
rs1313888705
69 T>I No ClinGen
gnomAD
rs776016094
CA8123318
70 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1368018878
CA396415523
73 Q>* No ClinGen
gnomAD
rs776277985
CA8123315
74 E>G No ClinGen
ExAC
gnomAD
rs1598273005
CA396415498
75 Q>E No ClinGen
Ensembl
CA396415490
rs1418244868
75 Q>R No ClinGen
gnomAD
rs1487068051
CA396415469
77 R>P No ClinGen
gnomAD
CA396415467
rs1487068051
77 R>Q No ClinGen
gnomAD
CA396415471
rs1192684935
77 R>W No ClinGen
gnomAD
rs770625516
CA8123314
79 L>P No ClinGen
ExAC
gnomAD
CA8123313
rs746669449
80 M>I No ClinGen
ExAC
gnomAD
CA8123311
rs202239509
81 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8123310
rs202239509
81 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777466466
CA8123312
81 R>W No ClinGen
ExAC
gnomAD
rs1243187512
CA396415412
82 D>N No ClinGen
gnomAD
rs778866453
CA8123309
83 F>L No ClinGen
ExAC
gnomAD
CA396415376
rs1248948278
84 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 84 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149918129
CA396415366
85 L>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8123306
rs149918129
85 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396415351
rs1374340059
86 V>G No ClinGen
gnomAD
rs370389022
CA8123303
86 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396415341
rs763339034
CA396415340
87 D>E No ClinGen
ExAC
gnomAD
rs1390058968
CA396415343
87 D>G No ClinGen
gnomAD
CA8123301
rs753151494
88 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA283210044
rs753151494
88 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA396415294
rs1254473418
89 H>R No ClinGen
gnomAD
CA8123274
rs144507252
91 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396415256
rs1308648060
93 P>L No ClinGen
gnomAD
rs147847477
CA8123273
93 P>S No ClinGen
ESP
ExAC
gnomAD
rs1378176788
CA396415249
94 L>P No ClinGen
TOPMed
TCGA novel 95 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396415234
rs1444402712
96 L>P No ClinGen
TOPMed
gnomAD
CA8123270
rs768551952
97 R>K No ClinGen
ExAC
gnomAD
CA283209754
rs964424635
98 Q>* No ClinGen
TOPMed
rs1329534074
CA396415212
98 Q>H No ClinGen
gnomAD
rs749261378
CA8123269
99 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs749261378
CA396415202
99 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA396415164
rs1299689361
103 G>A No ClinGen
TOPMed
CA396415156
rs1399856858
104 L>P No ClinGen
gnomAD
CA283209751
rs895927796
105 Q>R No ClinGen
gnomAD
CA8123268
rs76898487
106 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1434981628
CA396415144
106 D>N No ClinGen
gnomAD
rs554053966
CA8123267
107 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA8123266
rs747054444
110 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8123265
rs777699818
COSM471967
110 R>H kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 111 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396415095
rs1213241643
111 N>S No ClinGen
gnomAD
TCGA novel 113 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs574279521
CA8123262
115 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396415037
rs1353005421
117 T>S No ClinGen
gnomAD
TCGA novel 121 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755283112
CA396414993
122 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755283112
CA8123261
122 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA396414985
rs1244024705
123 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754369932
CA8123260
124 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA396414959
rs1314516365
126 L>F No ClinGen
TOPMed
gnomAD
CA396414960
rs1314516365
126 L>V No ClinGen
TOPMed
gnomAD
CA8123258
rs755590475
127 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750019739
CA8123257
128 G>D No ClinGen
ExAC
gnomAD
rs547766230
CA283209697
129 A>D No ClinGen
gnomAD
COSM3691115
CA8123255
rs761580112
129 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs547766230
CA396414930
129 A>V No ClinGen
gnomAD
CA396414927
rs1267959518
130 Q>* No ClinGen
TOPMed
rs751262522
CA8123236
132 W>C No ClinGen
ExAC
gnomAD
rs971304004
CA283209461
132 W>R No ClinGen
TOPMed
rs1216206590
CA396414844
135 Y>C No ClinGen
TOPMed
rs1314048809
CA396414822
138 C>G No ClinGen
TOPMed
gnomAD
rs763783491
CA8123235
139 Q>R No ClinGen
ExAC
gnomAD
CA8123234
rs762684170
141 Q>R No ClinGen
ExAC
gnomAD
rs142359415
CA8123233
142 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200552217
COSM1629957
CA8123232
143 R>Q liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1012680301
CA283209437
143 R>W No ClinGen
TOPMed
CA396414757
rs1567447944
144 D>G No ClinGen
Ensembl
rs1273945484
CA396414762
144 D>N No ClinGen
gnomAD
CA396414749
rs1209716632
145 A>P No ClinGen
TOPMed
CA396414744
rs1372598527
145 A>V No ClinGen
gnomAD
TCGA novel 146 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8123230
COSM558609
rs368802189
146 L>P lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396414736
rs1462454600
147 R>C No ClinGen
gnomAD
rs768027580
CA8123228
147 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8123229
rs768027580
147 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8123226
rs375989977
151 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1420488251
CA396414690
152 Q>* No ClinGen
gnomAD
rs531799009
CA8123224
153 I>L No ClinGen
1000Genomes
ExAC
gnomAD
CA283209380
rs148736668
153 I>T No ClinGen
ESP
TCGA novel 154 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396414655
rs1160599537
155 L>F No ClinGen
gnomAD
CA396414638
rs1255009731
156 I>T No ClinGen
TOPMed
gnomAD
COSM972661
rs201555693
CA8123223
157 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201555693
CA283209368
157 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs564605320
CA8123222
COSM460488
157 R>H cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs564605320
CA396414628
157 R>P No ClinGen
1000Genomes
ExAC
gnomAD
CA8123221
rs781484778
158 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8123219
rs368160537
158 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8123220
rs368160537
158 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs919579657
CA283209348
159 M>I No ClinGen
Ensembl
CA396414596
rs1598269350
160 C>Y No ClinGen
Ensembl
CA8123217
rs144339907
163 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777419220
CA8123218
163 Y>S No ClinGen
ExAC
gnomAD
CA396414543
rs1567447690
164 S>Y No ClinGen
Ensembl
rs752268573
CA8123216
COSM1709311
167 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1303532869
CA396414486
168 L>P No ClinGen
TOPMed
gnomAD
CA396414462
rs1376818232
170 T>N No ClinGen
TOPMed
gnomAD
rs753813676
CA8123213
COSM1379054
171 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs555934050
CA8123188
176 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA396414332
rs1598268634
176 N>S No ClinGen
Ensembl
CA8123187
rs775795150
177 D>H No ClinGen
ExAC
gnomAD
CA8123186
rs775795150
177 D>N No ClinGen
ExAC
gnomAD
rs1355579856
CA396414303
178 T>S No ClinGen
TOPMed
gnomAD
CA396414252
rs1275643203
182 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8123183
rs139782026
185 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139782026
CA8123185
185 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139782026
CA8123184
185 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8123181
rs201302210
186 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA8123180
rs201302210
186 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA396414190
rs1484590959
187 V>I No ClinGen
gnomAD
rs146393703
CA8123177
188 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8123178
rs146393703
188 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396414161
rs1598268417
189 G>V No ClinGen
Ensembl
TCGA novel 192 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396414120
rs1407291141
193 L>P No ClinGen
TOPMed
rs748950745
CA283209142
194 D>H No ClinGen
ExAC
gnomAD
rs748950745
CA8123175
194 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8123173
rs141563048
197 L>F No ClinGen
ESP
ExAC
gnomAD
CA8123172
rs750368497
197 L>P No ClinGen
ExAC
gnomAD
rs374497696
CA8123171
199 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374497696
CA396414064
199 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1047696472
CA283209132
201 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel
CA658682938
rs255051
201 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
1000Genomes
ESP
ExAC
gnomAD
CA283209109
rs255051
VAR_060230
201 R>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
dbSNP
gnomAD
CA396414040
rs1331723561
202 T>I No ClinGen
TOPMed
rs1278640029
CA396414017
204 Y>* No ClinGen
TOPMed
rs1162779343
CA396414025
204 Y>H No ClinGen
gnomAD
CA8123167
rs370066264
205 M>I No ClinGen
ESP
ExAC
gnomAD
rs765330926
CA8123168
205 M>L No ClinGen
ExAC
gnomAD
CA396414008
rs1476286665
205 M>T No ClinGen
gnomAD
CA283209093
rs374923512
209 R>C No ClinGen
ESP
gnomAD
CA8123166
rs373145757
209 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8123165
rs202183776
210 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1186601015
CA396413971
210 Y>H No ClinGen
gnomAD
CA396413960
rs1273079570
211 L>V No ClinGen
gnomAD
CA8123163
rs150079633
COSM1379053
212 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA283209083
rs150079633
212 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396413941
rs1274219623
213 L>P No ClinGen
gnomAD
rs1056361250
CA396413912
216 T>I No ClinGen
gnomAD
rs1056361250
CA283209073
216 T>S No ClinGen
gnomAD
rs748681048
CA8123160
217 C>* No ClinGen
ExAC
gnomAD
TCGA novel 217 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8123161
rs772509435
217 C>S No ClinGen
ExAC
gnomAD
TCGA novel 219 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8123157
rs748927361
220 P>R No ClinGen
ExAC
gnomAD
CA396413880
rs768166328
220 P>S No ClinGen
ExAC
gnomAD
CA8123158
rs768166328
220 P>T No ClinGen
ExAC
gnomAD
CA283209037
rs772615767
COSM3957743
221 W>* lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs769506790
CA396413452
COSM3957743
221 W>* lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs769506790
CA8123131
221 W>C No ClinGen
ExAC
gnomAD
rs186958025
CA8123130
223 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8123127
rs764677038
226 A>T No ClinGen
ExAC
TOPMed
rs746948522
CA283208493
227 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs777696064
CA396413388
228 G>A No ClinGen
ExAC
gnomAD
rs777696064
CA8123124
228 G>V No ClinGen
ExAC
gnomAD
rs182589890
CA8123122
229 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396413372
rs780276903
230 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA396413374
rs780276903
230 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA8123121
rs780276903
230 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA8123116
rs552543500
237 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396413304
rs1434765900
237 S>R No ClinGen
TOPMed
gnomAD
CA396413300
rs1383677983
238 G>R No ClinGen
TOPMed
gnomAD
rs942775952
CA283208460
238 G>V No ClinGen
Ensembl
rs752021379
CA8123115
241 D>E No ClinGen
ExAC
gnomAD
rs1272477138
CA396413284
241 D>Y No ClinGen
gnomAD
CA396413268
rs1183367340
243 G>D No ClinGen
gnomAD
CA396413237
rs963010731
246 V>L No ClinGen
TOPMed
gnomAD
CA283208349
rs963010731
246 V>M No ClinGen
TOPMed
gnomAD
rs765970809
CA8123090
250 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1326540802
CA396413209
250 M>T No ClinGen
gnomAD
rs760294074
CA396413196
252 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs758977397
CA8123089
252 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs758977397
CA396413194
252 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs760294074
CA283208348
252 R>S No ClinGen
gnomAD
CA396413183
rs1406378345
254 G>V No ClinGen
TOPMed
gnomAD
CA8123088
rs776157509
255 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1598264380
CA396413179
255 M>T No ClinGen
Ensembl
CA8123087
rs530061182
256 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1452763390
CA396413172
256 M>V No ClinGen
TOPMed
rs976551789
CA283208331
257 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1248746992
CA396413141
260 S>F No ClinGen
gnomAD
rs1248746992
CA396413143
260 S>Y No ClinGen
gnomAD
CA396413137
rs1420998100
261 H>R No ClinGen
TOPMed
rs1034806253
CA283208309
261 H>Y No ClinGen
gnomAD
rs771969590
CA8123084
262 V>I No ClinGen
ExAC
gnomAD
CA396413117
rs1387893777
264 D>G No ClinGen
TOPMed
TCGA novel 265 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1170229002
CA396413095
268 R>Q No ClinGen
TOPMed
gnomAD
rs748116361
CA8123083
268 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8123081
rs201396720
269 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8123082
rs550446323
269 R>W Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs986242989
CA283208231
273 V>L No ClinGen
TOPMed
CA396413057
rs1221645138
275 Q>* No ClinGen
TOPMed
CA8123078
rs371496343
276 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 277 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8123077
rs147996284
277 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1354369674
CA396413038
278 V>E No ClinGen
gnomAD
CA8123076
rs778135734
280 F>Y No ClinGen
ExAC
gnomAD
CA396413010
rs1390789344
282 H>L No ClinGen
gnomAD
rs1173104337
CA396413008
282 H>Q No ClinGen
gnomAD
CA396413003
rs1452721094
283 S>* No ClinGen
TOPMed
gnomAD
CA396413002
rs1452721094
283 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs868542914
CA283208201
284 A>S No ClinGen
Ensembl
CA8123072
rs753450669
286 R>G No ClinGen
ExAC
gnomAD
rs527641282
CA8123070
286 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753450669
CA8123071
286 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1206106020
CA396412986
287 G>C No ClinGen
gnomAD
CA396412988
rs1206106020
287 G>S No ClinGen
gnomAD
rs760423409
CA8123069
289 C>* No ClinGen
ExAC
gnomAD
rs1038836885
CA283208164
291 S>R No ClinGen
Ensembl
CA396412954
rs774095703
292 A>P No ClinGen
gnomAD
CA283208163
rs774095703
292 A>T No ClinGen
gnomAD
CA396412949
rs376501465
293 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200429288
CA8123067
293 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376501465
CA8123068
293 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8123065
rs373693556
298 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396412908
rs1373003668
299 I>N No ClinGen
gnomAD
rs200694435
CA8123062
301 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372203515
CA8123045
304 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396412857
rs1429266635
305 K>N No ClinGen
TOPMed
CA8123042
rs145887676
307 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs145887676
CA8123041
307 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs372357723
CA283207569
308 G>S No ClinGen
ESP
TOPMed
gnomAD
CA396412841
rs1475986745
308 G>V No ClinGen
gnomAD
CA396412834
rs1598261570
309 V>A No ClinGen
Ensembl
rs140744195
CA8123039
309 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396412833
rs779298810
310 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8123037
rs779298810
310 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8123035
rs749830324
314 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 314 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396412798
rs1371930305
315 S>Y No ClinGen
Ensembl
CA8123034
rs780357249
316 M>V No ClinGen
ExAC
gnomAD
CA8123032
rs750023132
318 V>G No ClinGen
ExAC
gnomAD
CA8123033
rs201800946
318 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8123031
rs780818900
319 I>T No ClinGen
ExAC
gnomAD
rs146119054
CA283207508
320 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146119054
CA8123030
320 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396412759
rs763983825
321 C>* No ClinGen
ExAC
gnomAD
CA8123027
rs372211741
322 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368738582
CA283207475
322 N>I No ClinGen
ESP
TOPMed
rs182720433
CA8123026
322 N>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA396412755
rs368738582
322 N>T No ClinGen
ESP
TOPMed
CA396412742
rs1368679118
324 S>* No ClinGen
gnomAD
CA283207469
rs374262446
326 N>S No ClinGen
ESP
TOPMed
gnomAD
rs1169354300
CA396412722
327 V>G No ClinGen
gnomAD
CA396412703
rs1421048804
331 A>T No ClinGen
gnomAD
CA396412698
rs1174270824
331 A>V No ClinGen
TOPMed
rs1235351787
CA396412599
334 F>V No ClinGen
gnomAD
rs540505554
COSM1379051
CA8122995
335 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8122994
rs777214198
336 H>N No ClinGen
ExAC
gnomAD
rs573249608
CA8122993
336 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396412557
rs1308303814
338 K>R No ClinGen
gnomAD
rs1033727371
CA283206897
339 A>T No ClinGen
TOPMed
gnomAD
CA283206892
rs866617431
339 A>V No ClinGen
Ensembl
CA283206882
rs375949900
340 V>F No ClinGen
ExAC
gnomAD
CA8122992
rs375949900
340 V>I No ClinGen
ExAC
gnomAD
CA396412512
rs1433126524
343 S>F No ClinGen
TOPMed
CA396412505
rs1171296107
344 K>R No ClinGen
gnomAD
CA396412493
rs1378517016
345 F>S No ClinGen
gnomAD
CA8122991
rs777330949
346 I>M No ClinGen
ExAC
gnomAD
rs1003638678
CA283206872
346 I>T No ClinGen
Ensembl
rs142237629
CA8122990
347 G>R No ClinGen
ESP
ExAC
gnomAD
rs1438626580
CA396412460
349 G>C No ClinGen
TOPMed
rs374612240
CA8122989
349 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396412463
rs1438626580
349 G>S No ClinGen
TOPMed
rs754728021
CA8122988
353 D>H No ClinGen
ExAC
gnomAD
rs754728021
CA8122987
353 D>N No ClinGen
ExAC
gnomAD
CA8122986
rs753778067
354 G>E No ClinGen
ExAC
gnomAD
CA396412403
rs1555504690
355 A>S No ClinGen
Ensembl
CA396412401
rs1228965230
355 A>V No ClinGen
TOPMed
rs1207698660 356 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396412393
rs1345641691
356 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA396412389
rs1260145863
356 G>V No ClinGen
gnomAD
CA283205879
rs1006367281
358 F>L No ClinGen
Ensembl
CA8122964
rs145720875
360 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283205875
rs1034005827
361 G>E No ClinGen
Ensembl
rs1567440709
CA396412284
361 G>R No ClinGen
Ensembl
CA8122962
rs199952465
364 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201163956
CA8122960
365 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1411862888
CA396412235
368 Y>* No ClinGen
TOPMed
gnomAD
CA396412232
rs1365482368
369 P>A No ClinGen
TOPMed
rs752877869
CA8122959
369 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1372611838
CA396412226
370 V>D No ClinGen
gnomAD
CA283205827
rs956903082
372 I>R No ClinGen
TOPMed
gnomAD
rs759825248
CA8122957
373 E>Q No ClinGen
ExAC
gnomAD
rs1046025109
CA283205816
377 S>G No ClinGen
TOPMed
gnomAD
CA396412176
rs1567440531
378 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8122956
rs754291865
378 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8122955
rs766824465
379 G>R No ClinGen
ExAC
gnomAD
CA8122954
rs761104550
381 S>G No ClinGen
ExAC
gnomAD
CA8122952
rs771486495
381 S>R No ClinGen
ExAC
gnomAD
rs573954866
CA8122950
383 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8122951
rs375315698
383 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1003206502
CA396412134
CA283205775
384 E>D No ClinGen
TOPMed
rs112383450
CA283205782
384 E>G No ClinGen
Ensembl
CA8122949
rs199768673
386 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396412117
rs1440605472
387 G>D No ClinGen
gnomAD
rs779846889
CA8122947
388 V>I No ClinGen
ExAC
gnomAD
rs1325735325
CA396412106
389 L>H No ClinGen
TOPMed
gnomAD
CA8122946
rs769539400
390 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA283205766
rs769539400
390 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs181288789
CA8122945
390 R>H No ClinGen
1000Genomes
ExAC
TOPMed
CA396412096
rs1395792587
391 G>E No ClinGen
gnomAD
rs569731919
CA283205760
391 G>R No ClinGen
1000Genomes
TOPMed
CA283205758
rs936751524
392 N>I No ClinGen
Ensembl
CA396412092
rs936751524
392 N>T No ClinGen
Ensembl
CA8122942
rs144454541
395 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757133675
CA8122943
395 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1598253195
CA396412072
396 V>G No ClinGen
Ensembl
rs766877867
CA8122939
399 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs766877867
CA8122938
399 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA8122937
rs756432860
400 V>A No ClinGen
ExAC
gnomAD
rs1598253123
CA396412047
400 V>L No ClinGen
Ensembl
rs768127528
CA8122935
402 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs546959816
CA8122916
403 V>A No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 403 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396412003
rs1310943604
405 E>K No ClinGen
TOPMed
gnomAD
rs976719141
CA283205589
406 E>K No ClinGen
TOPMed
gnomAD
rs763600957
CA8122915
407 N>S No ClinGen
ExAC
gnomAD
rs146351596
CA8122914
410 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396411952
rs1286628963
411 S>I No ClinGen
gnomAD
rs1411931310
CA396411947
412 P>H No ClinGen
gnomAD
CA8122913
rs774970419
412 P>S No ClinGen
ExAC
TOPMed
rs528870660
CA8122912
413 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1351110750
CA396411941
413 L>S No ClinGen
gnomAD
rs1445979325
CA396411938
414 E>K No ClinGen
gnomAD
CA396411916
rs759082940
416 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA8122910
rs776534967
418 P>A No ClinGen
ExAC
gnomAD
rs964100978
CA283205525
418 P>L No ClinGen
TOPMed
rs746971748
CA8122908
419 D>N No ClinGen
ExAC
gnomAD
CA8122907
rs773213621
420 E>D No ClinGen
ExAC
gnomAD
rs1160845280
CA396411895
420 E>K No ClinGen
gnomAD
CA283205521
rs756901785
424 S>G No ClinGen
Ensembl
rs1483970874
CA396411614
425 S>F No ClinGen
gnomAD
rs183628292
CA8122906
425 S>P No ClinGen
ExAC
gnomAD
rs779993387
CA8122904
426 C>* No ClinGen
ExAC
gnomAD
rs756398108
CA8122903
427 H>D No ClinGen
ExAC
gnomAD
CA8122901
rs781644300
429 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA396411552
rs1598252011
430 L>I No ClinGen
Ensembl
rs1381489505
CA396411531
431 S>L No ClinGen
TOPMed
gnomAD
CA396411540
rs1226646459
431 S>P No ClinGen
gnomAD
CA283205483
rs1015495896
432 R>C No ClinGen
gnomAD
rs200614898
CA8122900
432 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200614898
CA396411521
432 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8122899
rs752075576
433 L>P No ClinGen
ExAC
gnomAD
CA8122898
rs778313366
434 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8122897
rs758904218
434 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA283205468
rs528966964
437 Q>L No ClinGen
Ensembl
rs757915998
CA8122895
438 S>T No ClinGen
ExAC
gnomAD
CA8122893
rs753390615
440 T>P No ClinGen
ExAC
gnomAD
rs766197649
CA8122892
442 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs866783628
CA283205448
444 E>K No ClinGen
Ensembl
TCGA novel 444 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs566224645
CA283205445
447 E>K No ClinGen
ExAC
gnomAD
rs566224645
CA8122891
447 E>Q No ClinGen
ExAC
gnomAD
rs1265060030
CA396411279
449 P>A No ClinGen
gnomAD
rs1287038826
CA396411250
450 I>M No ClinGen
TOPMed
gnomAD
CA396411255
rs1382895594
450 I>T No ClinGen
TOPMed
CA8122890
rs772202768
451 H>N No ClinGen
ExAC
gnomAD
CA8122889
rs772202768
451 H>Y No ClinGen
ExAC
gnomAD
rs761810107
CA8122888
452 W>R No ClinGen
ExAC
gnomAD
rs1567439370
CA396411204
453 T>I No ClinGen
Ensembl
CA396411191
rs1313552022
454 A>V No ClinGen
gnomAD
rs775662244
CA8122886
455 K>N No ClinGen
ExAC
gnomAD
rs148784169
CA8122884
458 A>T No ClinGen
ESP
ExAC
TOPMed
CA8122883
rs781214458
460 W>C No ClinGen
ExAC
rs1435518589
CA396411133
460 W>R No ClinGen
gnomAD
rs1291388640
CA396411102
463 S>* No ClinGen
gnomAD
CA396411104
rs143876744
463 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8122882
rs143876744
463 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747442513
CA8122881
465 S>C No ClinGen
ExAC
gnomAD
rs747442513
CA396411085
465 S>F No ClinGen
ExAC
gnomAD
rs758957088
CA8122879
466 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8122880
rs778084333
466 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1598251360
CA396411069
467 P>R No ClinGen
Ensembl
CA8122876
rs1133090
VAR_033894
468 H>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8122877
rs1133090
468 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1023404475 468 H>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8122878
rs1133090
468 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766003939
CA8122874
469 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8122875
rs531284451
469 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396410976
rs1598251230
478 T>S No ClinGen
Ensembl
rs267604603
COSM36719
CA283205381
480 P>S Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA8122873
rs760397309
484 L>V No ClinGen
ExAC
gnomAD
CA283205377
rs866029507
485 W>* No ClinGen
TOPMed
CA396410910
rs866029507
485 W>C No ClinGen
TOPMed
TCGA novel 487 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q9H4A9

4 regional properties for Q9H4A9

Type Name Position InterPro Accession
repeat Leucine-rich repeat 66 - 87 IPR001611-1
repeat Leucine-rich repeat 88 - 109 IPR001611-2
repeat Leucine-rich repeat 110 - 131 IPR001611-3
repeat Leucine-rich repeat 132 - 153 IPR001611-4

Functions

Description
EC Number 3.4.13.19 Dipeptidases
Subcellular Localization
  • Membrane ; Lipid-anchor, GPI-anchor
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
anchored component of membrane The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.

3 GO annotations of molecular function

Name Definition
dipeptidase activity Catalysis of the hydrolysis of a dipeptide.
metal ion binding Binding to a metal ion.
metallodipeptidase activity Catalysis of the hydrolysis of a dipeptide by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.

3 GO annotations of biological process

Name Definition
leukotriene D4 catabolic process The chemical reactions and pathways resulting in the breakdown of leukotriene D4.
leukotriene metabolic process The chemical reactions and pathways involving leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid.
proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MQPSGLEGPG TFGRWPLLSL LLLLLLLQPV TCAYTTPGPP RALTTLGAPR AHTMPGTYAP
70 80 90 100 110 120
STTLSSPSTQ GLQEQARALM RDFPLVDGHN DLPLVLRQVY QKGLQDVNLR NFSYGQTSLD
130 140 150 160 170 180
RLRDGLVGAQ FWSAYVPCQT QDRDALRLTL EQIDLIRRMC ASYSELELVT SAKALNDTQK
190 200 210 220 230 240
LACLIGVEGG HSLDNSLSIL RTFYMLGVRY LTLTHTCNTP WAESSAKGVH SFYNNISGLT
250 260 270 280 290 300
DFGEKVVAEM NRLGMMVDLS HVSDAVARRA LEVSQAPVIF SHSAARGVCN SARNVPDDIL
310 320 330 340 350 360
QLLKKNGGVV MVSLSMGVIQ CNPSANVSTV ADHFDHIKAV IGSKFIGIGG DYDGAGKFPQ
370 380 390 400 410 420
GLEDVSTYPV LIEELLSRGW SEEELQGVLR GNLLRVFRQV EKVQEENKWQ SPLEDKFPDE
430 440 450 460 470 480
QLSSSCHSDL SRLRQRQSLT SGQELTEIPI HWTAKLPAKW SVSESSPHMA PVLAVVATFP
VLILWL