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 Q9H1J1

Entry ID Method Resolution Chain Position Source
2L08 NMR - A 70-155 PDB
7QG6 X-ray 295 A A/C/E/G 58-206 PDB
AF-Q9H1J1-F1 Predicted AlphaFoldDB

470 variants for Q9H1J1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA388838440
rs1372751125
2 R>C No ClinGen
TOPMed
gnomAD
CA388838446
rs1382208617
2 R>H No ClinGen
TOPMed
CA388838460
rs1366592633
3 S>W No ClinGen
TOPMed
CA388838467
rs1023469713
4 E>G No ClinGen
TOPMed
gnomAD
rs759775018
CA7070020
4 E>K No ClinGen
ExAC
gnomAD
CA257264005
rs1023469713
4 E>V No ClinGen
TOPMed
gnomAD
CA388838481
TCGA novel
rs1340545238
5 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
rs970416488
CA257264023
6 E>K No ClinGen
TOPMed
gnomAD
rs970416488
CA388838486
6 E>Q No ClinGen
TOPMed
gnomAD
rs1256344852
CA388838499
7 G>R No ClinGen
gnomAD
rs1275294202
CA388838507
7 G>V No ClinGen
Ensembl
rs775514726
CA7070022
8 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs775514726
CA388838510
8 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs910596329
CA257264025
8 A>V No ClinGen
TOPMed
gnomAD
rs1242292399
CA388838523
9 G>A No ClinGen
TOPMed
CA7070023
rs545511962
9 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1474990197
CA388838530
10 G>D No ClinGen
gnomAD
CA7070024
rs764647001
10 G>S No ClinGen
ExAC
gnomAD
CA388838539
rs1168307755
11 L>F No ClinGen
gnomAD
rs754311829
CA7070025
12 R>W No ClinGen
ExAC
gnomAD
rs1014520051
CA257264059
13 A>E No ClinGen
TOPMed
CA388838554
rs1324617329
13 A>T No ClinGen
gnomAD
CA388838561
rs1014520051
13 A>V No ClinGen
TOPMed
CA7070026
rs201273206
14 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7070028
rs751211531
15 V>L No ClinGen
ExAC
gnomAD
rs1362439331
CA388838582
16 A>T No ClinGen
gnomAD
rs199669800
CA257264112
17 A>T No ClinGen
Ensembl
rs920206864
CA257264120
17 A>V No ClinGen
TOPMed
gnomAD
rs1272621801
CA388838602
18 R>Q No ClinGen
TOPMed
gnomAD
CA7070029
rs754659664
18 R>W No ClinGen
ExAC
gnomAD
rs1594734520
CA388838608
19 G>R No ClinGen
Ensembl
rs952908452
CA257264145
20 P>L No ClinGen
TOPMed
gnomAD
rs1170480409
CA388838616
20 P>T No ClinGen
TOPMed
CA388838627
rs1446360989
21 S>G No ClinGen
gnomAD
rs1191166968
CA388838631
21 S>N No ClinGen
gnomAD
CA388838632
rs1191166968
21 S>T No ClinGen
gnomAD
CA388838639
rs1419835066
22 G>R No ClinGen
TOPMed
gnomAD
rs1475326023
CA388838653
23 R>K No ClinGen
gnomAD
CA388838654
rs1475326023
23 R>T No ClinGen
gnomAD
rs985995959
CA257264153
24 E>K No ClinGen
gnomAD
rs1454845718
CA388838684
25 K>N No ClinGen
gnomAD
rs1288977974
CA388838686
26 L>M No ClinGen
gnomAD
CA388838700
rs1386232236
27 S>L No ClinGen
TOPMed
gnomAD
rs1386232236
CA388838698
27 S>W No ClinGen
TOPMed
gnomAD
rs1296728016
CA388838707
28 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1415594770
CA388838712
29 L>I No ClinGen
gnomAD
rs1483457459
CA388838720
29 L>R No ClinGen
TOPMed
CA7070034
rs549694730
30 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA388838736
rs770710052
CA7070035
31 V>L No ClinGen
ExAC
gnomAD
rs770710052
CA388838735
31 V>M No ClinGen
ExAC
gnomAD
CA7070036
rs778656716
32 Q>H No ClinGen
ExAC
gnomAD
rs1220955385
CA388838763
33 F>S No ClinGen
TOPMed
rs867684324
CA257264208
35 R>C No ClinGen
gnomAD
CA257264219
rs866150021
35 R>L No ClinGen
Ensembl
CA7070037
rs745703632
36 D>H No ClinGen
ExAC
gnomAD
CA257264231
rs866607014
37 S>* No ClinGen
Ensembl
CA257264300
rs923922944
40 Q>* No ClinGen
TOPMed
gnomAD
rs923922944
CA257264280
40 Q>K No ClinGen
TOPMed
gnomAD
CA257264305
rs935362462
41 E>K No ClinGen
TOPMed
rs369318678
CA7070040
42 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768620649
CA7070041
42 A>V No ClinGen
ExAC
gnomAD
CA388838876
rs1157425035
43 E>K No ClinGen
gnomAD
rs765896619
CA388838904
45 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs765896619
CA7070045
45 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1393415961
CA388838917
46 P>L No ClinGen
gnomAD
CA257264320
rs1035066257
47 T>I No ClinGen
TOPMed
gnomAD
rs763481628
CA7070047
47 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs752305683
CA257264339
48 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs752305683
CA7070049
48 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA7070051
rs763545842
49 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1209085685
CA388838935
49 S>P No ClinGen
TOPMed
gnomAD
rs753436215
CA7070052
50 S>A No ClinGen
ExAC
gnomAD
rs1232569254
CA388838942
50 S>C No ClinGen
TOPMed
gnomAD
rs1232569254
CA388838943
50 S>F No ClinGen
TOPMed
gnomAD
CA388838939
rs753436215
50 S>T No ClinGen
ExAC
gnomAD
rs778887885
CA388838946
51 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA388838945
rs757152967
51 G>C No ClinGen
ExAC
gnomAD
rs778887885
CA7070054
51 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7070053
rs757152967
51 G>S No ClinGen
ExAC
gnomAD
CA388838959
rs200526577
53 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200526577
CA7070055
53 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7070056
rs758199252
54 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA388838964
rs1463693284
54 G>D No ClinGen
gnomAD
CA7070057
rs758199252
54 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA388838969
rs1399862043
55 G>C No ClinGen
TOPMed
gnomAD
CA388838968
rs1399862043
55 G>R No ClinGen
TOPMed
gnomAD
CA388838967
rs1399862043
55 G>S No ClinGen
TOPMed
gnomAD
rs373380917
CA257264434
56 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA257264450
rs373380917
56 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7070058
rs747224471
56 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs373380917
CA7070059
56 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388838977
rs1457537173
57 G>C No ClinGen
TOPMed
CA257264459
rs201405072
57 G>D No ClinGen
Ensembl
CA388838976
rs1457537173
57 G>R No ClinGen
TOPMed
CA7070062
rs776554800
58 K>E No ClinGen
ExAC
gnomAD
CA388838980
rs776554800
58 K>Q No ClinGen
ExAC
gnomAD
CA388838983
rs1162797220
58 K>R No ClinGen
TOPMed
gnomAD
rs1309084759
CA388838989
59 P>S No ClinGen
gnomAD
CA388838994
rs1204750484
60 R>G No ClinGen
gnomAD
rs770424499
CA388838996
60 R>H No ClinGen
ExAC
gnomAD
rs770424499
CA7070064
60 R>P No ClinGen
ExAC
gnomAD
CA7070066
rs773915083
61 E>* No ClinGen
ExAC
CA388839003
rs1456195230
61 E>D No ClinGen
TOPMed
gnomAD
rs1406917642
CA388839007
62 E>Q No ClinGen
gnomAD
CA7070068
rs376489246
63 K>E No ClinGen
ESP
TOPMed
CA388839018
rs1478639973
63 K>N No ClinGen
gnomAD
rs3752105
VAR_062143
CA7070069
64 R>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7070070
rs3752105
64 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388839026
rs1430610505
65 T>A No ClinGen
gnomAD
CA7070071
rs775169372
65 T>K No ClinGen
ExAC
gnomAD
CA7070073
rs74613026
66 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388839031
rs74613026
66 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388839034
rs1327993916
66 A>V No ClinGen
TOPMed
gnomAD
rs1390544933
CA388839036
67 L>Q No ClinGen
TOPMed
rs753282717
CA7070074
67 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1214904167
CA388839043
68 S>N No ClinGen
TOPMed
gnomAD
CA388839039
rs1364020628
68 S>R No ClinGen
gnomAD
rs1426016693
CA388839048
69 K>E No ClinGen
TOPMed
rs1038572201
CA257264550
69 K>N No ClinGen
TOPMed
gnomAD
CA7070101
rs76186578
70 V>L No ClinGen
ExAC
gnomAD
rs1445354415
CA388839089
73 R>H No ClinGen
gnomAD
CA7070103
rs756224010
74 R>C No ClinGen
ExAC
gnomAD
rs1375258703
CA388839096
74 R>H No ClinGen
gnomAD
CA388839107
rs1237221357
76 P>L No ClinGen
gnomAD
CA7070104
rs778022698
77 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7070105
rs778022698
77 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA257264803
rs950732167
77 P>S No ClinGen
TOPMed
gnomAD
CA7070107
rs779532379
78 G>D No ClinGen
ExAC
gnomAD
rs746160217
CA7070110
81 K>N No ClinGen
ExAC
gnomAD
CA388839132
rs1458387616
81 K>R No ClinGen
gnomAD
rs1236492825
CA388839135
82 E>K No ClinGen
gnomAD
rs1277347941
CA388839148
83 Q>R No ClinGen
TOPMed
rs1243077307
CA388839168
86 E>G No ClinGen
TOPMed
CA388839174
rs1199544946
87 Q>* No ClinGen
gnomAD
CA388839183
rs1376834586
88 L>P No ClinGen
gnomAD
CA7070113
rs761474818
89 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA388839187
rs1423818252
89 R>L No ClinGen
gnomAD
CA388839194
rs1328676924
90 P>L No ClinGen
gnomAD
CA388839191
rs1018570749
90 P>S No ClinGen
TOPMed
CA257264873
rs1018570749
90 P>T No ClinGen
TOPMed
rs1324725313
CA388839202
92 P>A No ClinGen
gnomAD
CA388839205
rs1331062530
92 P>L No ClinGen
gnomAD
CA388839206
rs1316394890
93 A>T No ClinGen
gnomAD
CA388839219
rs191315480
94 H>Q No ClinGen
1000Genomes
TOPMed
gnomAD
rs1272302202
CA388839214
94 H>Y No ClinGen
gnomAD
CA388839226
rs1256203812
95 D>E No ClinGen
TOPMed
gnomAD
CA388839223
rs1428491401
95 D>G No ClinGen
TOPMed
rs762520134
CA388839220
95 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs762520134
CA7070116
95 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA388839241
rs1210533634
97 F>L No ClinGen
gnomAD
CA388839246
rs1266540982
98 E>A No ClinGen
gnomAD
rs1031182192
CA257264901
98 E>D No ClinGen
TOPMed
gnomAD
CA388839243
rs1594740239
98 E>K No ClinGen
Ensembl
TCGA novel
rs1194997507
CA388839257
99 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
rs1168152692
CA388839275
102 A>D No ClinGen
gnomAD
CA388839272
rs1477290558
102 A>T No ClinGen
gnomAD
rs1566718817
CA388839279
103 D>Y No ClinGen
Ensembl
rs1258992514
CA388839289
104 L>P No ClinGen
gnomAD
CA388839287
rs1419598132
104 L>V No ClinGen
TOPMed
gnomAD
CA388839294
rs1162130403
105 S>N No ClinGen
gnomAD
rs987673954
CA257265904
106 L>F No ClinGen
TOPMed
rs760603672
CA7070143
107 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 108 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070145
rs754117857
108 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs754117857
CA388839330
108 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs764354121
CA7070144
108 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7070146
rs757240245
109 H>Y No ClinGen
ExAC
gnomAD
rs940862875
CA257265951
110 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs750514540
CA7070148
111 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA388839377
rs556363515
116 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7070151
rs556363515
116 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755352707
CA7070152
119 R>G No ClinGen
ExAC
gnomAD
rs1308986380
CA388839417
121 P>L No ClinGen
TOPMed
rs201039341
CA7070153
121 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1198663830
CA388839429
123 D>A No ClinGen
gnomAD
CA7070157
rs770298894
125 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA388839446
rs1279173098
126 L>I No ClinGen
gnomAD
rs1056239437
CA257266104
126 L>R No ClinGen
TOPMed
gnomAD
rs773891566
CA7070158
128 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745412491
CA7070159
129 D>V No ClinGen
ExAC
gnomAD
TCGA novel 130 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070160
rs772119228
130 R>L No ClinGen
ExAC
gnomAD
CA7070162
rs760478961
131 F>L No ClinGen
ExAC
gnomAD
CA7070164
rs145367145
134 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070165
rs145367145
134 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070163
rs764011129
134 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 136 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070166
rs765414961
137 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs758468482
CA7070168
138 D>N No ClinGen
ExAC
gnomAD
rs1201002533
CA388839533
139 S>N No ClinGen
gnomAD
rs1414710428
CA388839828
141 G>D No ClinGen
gnomAD
CA388839872
rs1162658709
145 P>L No ClinGen
gnomAD
CA388839878
rs1362405877
146 A>S No ClinGen
gnomAD
rs529401037
CA7070194
148 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA388839907
rs1337937054
149 E>A No ClinGen
TOPMed
gnomAD
TCGA novel 149 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070195
rs757932269
150 F>L No ClinGen
ExAC
gnomAD
rs779685671
CA7070196
152 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 153 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070197
rs746554618
156 I>T No ClinGen
ExAC
gnomAD
rs1377871891
CA388839984
156 I>V No ClinGen
gnomAD
CA7070198
rs768707129
162 R>S No ClinGen
ExAC
gnomAD
rs781046348
CA7070199
163 K>E No ClinGen
ExAC
gnomAD
rs747921994
CA7070200
165 D>Y No ClinGen
ExAC
gnomAD
rs1231134074
CA388840092
166 A>T No ClinGen
TOPMed
rs1323495748
CA388840097
166 A>V No ClinGen
TOPMed
rs1285832031
CA388840111
168 T>S No ClinGen
gnomAD
rs547441846
CA257269078
170 S>N No ClinGen
1000Genomes
gnomAD
rs773447969
CA388840131
171 I>M No ClinGen
ExAC
gnomAD
rs200349995
CA7070203
172 E>K Variant assessed as Somatic; 0.0005544 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388840143
rs1566731917
173 D>G No ClinGen
Ensembl
rs1238442941
CA388840191
176 E>D No ClinGen
gnomAD
CA7070225
rs567334744
183 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745879648
CA388840285
185 C>F No ClinGen
ExAC
gnomAD
rs745879648
CA7070227
COSM432178
185 C>Y Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA257269381
rs933735181
186 V>A No ClinGen
TOPMed
gnomAD
rs772074945
CA7070228
187 E>Q No ClinGen
ExAC
gnomAD
CA7070231
rs761063736
192 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA7070230
rs761063736
192 S>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 193 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs886782169
CA257269429
194 N>I No ClinGen
TOPMed
gnomAD
rs552671813
CA7070232
194 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA257269448
rs970739195
196 E>K No ClinGen
Ensembl
CA7070234
rs1555368996
197 T>A No ClinGen
Ensembl
rs1453268694
CA388840417
198 L>V No ClinGen
gnomAD
rs754474639
CA7070238
200 G>E No ClinGen
ExAC
gnomAD
CA388840438
rs754474639
200 G>V No ClinGen
ExAC
gnomAD
rs1479235609
CA388840448
201 E>V No ClinGen
gnomAD
rs41291207
CA388840487
204 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41291207
CA7070239
204 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA388840511
rs1293095374
206 T>I No ClinGen
Ensembl
CA7070243
rs755974941
207 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA7070244
rs777756188
207 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA388840527
rs1394899357
208 E>Q No ClinGen
gnomAD
CA257269573
rs920046854
209 L>F No ClinGen
TOPMed
gnomAD
rs920046854
CA388840538
209 L>V No ClinGen
TOPMed
gnomAD
CA388840553
rs1333972636
210 I>M No ClinGen
TOPMed
rs1403512340
CA388840549
210 I>S No ClinGen
gnomAD
rs1357202473
CA388840992
212 R>G No ClinGen
gnomAD
CA7070267
rs577525359
212 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs369499398
CA7070268
213 R>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1487737592
CA388841031
215 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA388841041
rs1566744018
216 P>L No ClinGen
Ensembl
CA388841036
rs1242281350
216 P>S No ClinGen
gnomAD
rs756993621
CA7070271
219 E>K No ClinGen
ExAC
gnomAD
CA388841122
rs1186228730
223 N>I No ClinGen
gnomAD
rs1443388197
CA388841150
225 K>E No ClinGen
gnomAD
CA7070275
rs780380394
226 L>F No ClinGen
ExAC
gnomAD
CA7070274
rs758544348
226 L>S No ClinGen
ExAC
gnomAD
CA257274837
rs903882660
230 R>I No ClinGen
TOPMed
rs780071389
CA7070292
231 I>V No ClinGen
ExAC
gnomAD
CA257274844
rs936640071
COSM201615
232 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs751840581
CA7070293
232 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1054409672
CA257274858
234 E>Q No ClinGen
TOPMed
CA388841310
rs755061369
236 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA7070294
rs755061369
236 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7070296
rs149323560
236 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070295
rs149323560
236 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070299
rs778406286
239 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7070298
rs143579155
239 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs749560057
CA7070300
240 R>S No ClinGen
ExAC
gnomAD
CA7070301
rs771333598
241 R>K No ClinGen
ExAC
gnomAD
CA7070302
rs1555371086
243 E>Q No ClinGen
Ensembl
rs1175839376
CA388841370
244 L>I No ClinGen
gnomAD
rs1293598191
CA388841389
246 K>R No ClinGen
TOPMed
CA7070304
rs774953253
248 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs768334907
CA7070306
248 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774953253
CA7070305
248 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1467187025
CA388841412
250 R>Q No ClinGen
TOPMed
gnomAD
rs186674806
CA7070308
250 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1171490165
CA388841429
252 E>D No ClinGen
gnomAD
CA7070310
rs765100910
253 E>K No ClinGen
ExAC
TOPMed
CA388841442
rs1487322346
254 K>R No ClinGen
TOPMed
rs1460461579
CA388841456
255 R>K No ClinGen
gnomAD
CA257274980
rs923716045
257 R>K No ClinGen
Ensembl
CA7070313
rs773204437
258 R>G No ClinGen
ExAC
gnomAD
rs1356352990
CA388841487
258 R>K No ClinGen
TOPMed
rs762614352
CA7070315
258 R>S No ClinGen
ExAC
gnomAD
rs766221879
CA7070316
259 E>K No ClinGen
ExAC
gnomAD
TCGA novel 260 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388841505
rs1341997949
260 E>K No ClinGen
gnomAD
CA388841519
rs1218653178
261 E>K No ClinGen
gnomAD
rs751362107
CA7070317
262 R>G No ClinGen
ExAC
gnomAD
CA388841534
rs1307425169
262 R>K No ClinGen
gnomAD
rs1230687399
CA388841554
263 C>* No ClinGen
TOPMed
CA388841543
rs1267774473
263 C>S No ClinGen
gnomAD
TCGA novel 263 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388841548
rs1490603138
263 C>Y No ClinGen
gnomAD
CA388841560
rs1222216705
264 K>E No ClinGen
gnomAD
CA257275002
rs576285496
264 K>R No ClinGen
gnomAD
rs1478957221
CA388841575
265 K>T No ClinGen
TOPMed
gnomAD
CA388841588
rs755220838
266 K>I No ClinGen
ExAC
TOPMed
CA7070321
rs755220838
266 K>R No ClinGen
ExAC
TOPMed
rs1297559348
CA388841597
267 E>K No ClinGen
TOPMed
rs767420916 267 E>R Variant assessed as Somatic; 0.0001008 impact. Variant assessed as Somatic; 5.042e-05 impact. [NCI-TCGA] No NCI-TCGA
CA388841614
rs1166758574
268 T>A No ClinGen
gnomAD
CA7070324
rs767918514
268 T>I No ClinGen
ExAC
rs767918514
CA257275033
268 T>R No ClinGen
ExAC
rs752815880
CA7070325
269 D>G No ClinGen
ExAC
gnomAD
rs756279155
CA7070327
271 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs778078710
CA7070328
273 K>T No ClinGen
ExAC
gnomAD
CA388841692
rs1400265517
274 I>T No ClinGen
gnomAD
CA388841701
rs1359187172
275 A>S No ClinGen
gnomAD
rs1315394098
CA388841735
278 E>* No ClinGen
gnomAD
rs1290094019
CA388841756
281 I>F No ClinGen
gnomAD
rs376741542
CA7070333
282 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs893429771
CA257275097
282 K>R No ClinGen
Ensembl
CA257282213
rs940687838
285 K>* No ClinGen
TOPMed
rs943077313
CA257282219
288 E>K No ClinGen
TOPMed
CA7070348
rs757773931
289 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA257282230
rs143806139
291 E>* No ClinGen
ESP
TOPMed
gnomAD
rs560113415
CA257282236
292 E>* No ClinGen
1000Genomes
TOPMed
rs560113415
CA257282234
292 E>K No ClinGen
1000Genomes
TOPMed
CA388842030
rs1203753467
293 P>S No ClinGen
TOPMed
rs1157808242
CA388842039
294 T>I No ClinGen
gnomAD
CA7070351
rs746173465
299 K>* No ClinGen
ExAC
gnomAD
rs1415863369
CA388842083
301 R>G No ClinGen
gnomAD
rs758765255
CA7070352
301 R>T No ClinGen
ExAC
gnomAD
rs1357487610
CA388842101
303 E>D No ClinGen
TOPMed
gnomAD
rs1404797409
CA388842103
304 E>K No ClinGen
gnomAD
CA7070354
rs747818618
305 I>M No ClinGen
ExAC
gnomAD
CA7070353
rs376399019
305 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070356
rs777308493
306 D>G No ClinGen
ExAC
gnomAD
TCGA novel 306 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA388842128
rs1304481644
307 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 309 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355965831
CA388842154
311 K>N No ClinGen
TOPMed
gnomAD
CA388842164
rs1410446045
313 E>* No ClinGen
TOPMed
rs1221216648
CA388842180
315 C>Y No ClinGen
TOPMed
gnomAD
CA7070358
rs770888169
316 A>S No ClinGen
ExAC
gnomAD
rs1201892006
CA388842192
317 P>S No ClinGen
gnomAD
CA7070362
rs775808542
318 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs3752107
CA7070363
319 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764287690
CA7070364
320 V>I No ClinGen
ExAC
gnomAD
rs761811674
CA7070366
321 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761811674
CA257282296
321 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7070367
rs765709351
322 K>N No ClinGen
ExAC
gnomAD
rs143253585
CA7070368
323 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388842235
rs377378655
325 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070369
rs377378655
325 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs3993409
CA7070371
326 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7070372
rs755787826
326 M>T No ClinGen
ExAC
TOPMed
gnomAD
COSM3667262
CA7070370
rs3993409
326 M>V liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA257282337
rs958502923
328 G>A No ClinGen
Ensembl
rs139333511
CA7070373
328 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388842254
rs139333511
328 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388842262
rs1439063173
329 S>L No ClinGen
TOPMed
gnomAD
rs3993410
CA257282339
331 E>K No ClinGen
Ensembl
rs778956714
CA7070376
332 E>D No ClinGen
ExAC
gnomAD
CA7070375
rs564771391
332 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA257282350
rs991010360
333 P>A No ClinGen
gnomAD
CA388842295
rs991010360
333 P>S No ClinGen
gnomAD
CA7070378
rs531937279
336 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7070377
rs745825993
336 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA388842623
rs1341903534
338 H>P No ClinGen
TOPMed
rs375258220
CA7070404
340 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766815591
CA7070406
341 S>R No ClinGen
ExAC
gnomAD
rs367909816
CA388842670
344 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 344 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756961916
CA7070411
346 R>S No ClinGen
ExAC
gnomAD
CA7070409
rs767798245
346 R>W No ClinGen
ExAC
gnomAD
CA388842701
rs1194396906
349 E>A No ClinGen
TOPMed
CA7070413
rs371654561
349 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388842707
rs1447908068
350 R>* No ClinGen
TOPMed
gnomAD
CA7070415
rs780099139
350 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA7070414
rs757983101
350 R>T No ClinGen
ExAC
gnomAD
rs746942506
CA7070416
351 S>C No ClinGen
ExAC
gnomAD
rs746942506
CA388842714
351 S>F No ClinGen
ExAC
gnomAD
rs1221243845
CA388842747
355 E>D No ClinGen
TOPMed
gnomAD
rs866183657
CA257284579
361 Y>D No ClinGen
Ensembl
CA388842793
rs1335924754
362 H>L No ClinGen
gnomAD
CA388842798
rs1392862626
363 V>M No ClinGen
gnomAD
CA7070419
rs748043391
364 D>N No ClinGen
ExAC
gnomAD
rs368934136
CA7070421
366 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070422
rs749299960
367 R>G No ClinGen
ExAC
gnomAD
CA7070423
rs771034163
367 R>S No ClinGen
ExAC
gnomAD
CA388842829
rs1594845025
368 R>G No ClinGen
Ensembl
CA7070424
rs371412905
369 H>Y No ClinGen
ESP
ExAC
gnomAD
CA388842843
rs1263011178
370 R>G No ClinGen
gnomAD
CA7070426
rs759940081
370 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA7070425
rs759940081
370 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA7070427
rs145387476
371 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200073551
CA7070428
372 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388842867
rs200728824
373 H>Q No ClinGen
TOPMed
gnomAD
rs374285151
CA7070430
374 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA388842891
rs1403779574
377 R>P No ClinGen
gnomAD
CA7070431
rs112653680
377 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1171999457
CA388842925
382 S>N No ClinGen
TOPMed
rs1355405550
CA388842927
382 S>R No ClinGen
Ensembl
CA388842936
rs1594845241
384 D>N No ClinGen
Ensembl
CA388842954
rs1395435646
386 Q>* No ClinGen
gnomAD
CA388842983
rs1284763155
390 K>E No ClinGen
gnomAD
TCGA novel 391 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754867855
CA7070434
391 G>E No ClinGen
ExAC
gnomAD
rs781249757
CA7070435
392 P>S No ClinGen
ExAC
gnomAD
rs1280855111
CA388843004
393 G>A No ClinGen
gnomAD
rs1280855111
CA388843003
393 G>D No ClinGen
gnomAD
rs777934829
CA7070438
395 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs755908505
CA7070437
395 D>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 397 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070440
rs143978425
398 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1271251801
CA388843051
400 G>E No ClinGen
gnomAD
CA388843057
rs746015015
401 S>N No ClinGen
ExAC
gnomAD
CA7070442
rs746015015
401 S>T No ClinGen
ExAC
gnomAD
CA388843067
rs1566773627
402 Q>R No ClinGen
Ensembl
CA388843093
rs1237393669
403 D>G No ClinGen
TOPMed
CA7070444
rs772399317
403 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1011831369
CA257284715
405 G>R No ClinGen
TOPMed
gnomAD
CA7070448
rs544447756
407 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769164771
CA7070447
407 P>S No ClinGen
ExAC
gnomAD
rs766121292
CA7070450
409 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1227258446 409 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140894742
CA7070451
411 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070452
rs759100983
413 R>K No ClinGen
ExAC
gnomAD
CA7070453
rs767291578
415 G>V No ClinGen
ExAC
gnomAD
CA7070455
rs529954434
417 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7070456
rs777523591
417 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA388843354
rs1486867009
422 D>N No ClinGen
gnomAD
CA388843371
rs1187208983
423 S>G No ClinGen
gnomAD
CA7070460
rs745864012
424 P>L No ClinGen
ExAC
rs148684815
COSM106481
CA257284823
424 P>S skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA388843417
rs1165233574
426 P>R No ClinGen
TOPMed
gnomAD
rs144828938
CA7070464
427 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070465
rs769324458
428 K>E No ClinGen
ExAC
gnomAD
COSM945700
CA388843455
rs1346627869
430 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs777130407
CA7070466
430 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762327211
CA7070467
432 A>E No ClinGen
ExAC
gnomAD
CA257284858
rs912259623
433 N>K No ClinGen
TOPMed
gnomAD
CA7070468
rs770433580
434 K>E No ClinGen
ExAC
gnomAD
CA7070485
rs770227782
435 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA7070486
rs773827734
436 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA388843649
rs1470399560
436 R>W No ClinGen
gnomAD
rs1481104736
CA388843661
438 A>D No ClinGen
gnomAD
CA388843660
rs1409355590
438 A>S No ClinGen
gnomAD
CA388843658
rs1409355590
438 A>T No ClinGen
gnomAD
CA7070488
rs771664385
440 Q>* No ClinGen
ExAC
gnomAD
rs760240570
CA7070490
443 D>H No ClinGen
ExAC
gnomAD
rs763948700
CA7070491
443 D>V No ClinGen
ExAC
gnomAD
CA388843703
rs1443391816
445 G>R No ClinGen
gnomAD
CA388843714
rs1249812353
446 A>V No ClinGen
TOPMed
CA7070492
rs776576957
447 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7070493
rs761464068
447 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs750224486
CA7070495
449 R>* No ClinGen
ExAC
gnomAD
rs370142973
CA7070497
449 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370142973
CA7070496
449 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7070498
rs118093178
450 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373072777
CA7070500
451 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748713506
CA7070501
451 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs748713506
CA388843747
451 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA388843746
rs748713506
451 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7070506
rs200586196
455 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7070507
rs746478058
456 N>Y No ClinGen
ExAC
gnomAD
CA7070508
rs201229742
457 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 457 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776164523
CA7070510
459 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA388843832
rs776164523
459 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA388843861
rs1396020199
461 K>* No ClinGen
TOPMed
CA257286221
rs201743180
464 G>R No ClinGen
TOPMed
gnomAD
CA7070514
rs773046796
COSM3417402
465 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA388843913
rs773046796
465 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA388843921
rs1340049564
466 G>E No ClinGen
gnomAD
TCGA novel 467 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7070516
rs369708380
467 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA388843948
rs1165158917
469 P>S No ClinGen
gnomAD
rs751861679
CA7070517
470 E>K No ClinGen
ExAC
gnomAD
CA7070518
rs759642355
471 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs767684952
CA7070519
473 E>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 473 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767684952
CA257286264
473 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7070521
rs752763280
475 A>V No ClinGen
ExAC
TOPMed

No associated diseases with Q9H1J1

1 regional properties for Q9H1J1

Type Name Position InterPro Accession
domain UPF3 domain 68 - 225 IPR005120

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Shuttling between the nucleus and the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
exon-exon junction complex A multi-subunit complex deposited by the spliceosome upstream of messenger RNA exon-exon junctions. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
telomeric DNA binding Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end.

3 GO annotations of biological process

Name Definition
mRNA transport The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
nucleocytoplasmic transport The directed movement of molecules between the nucleus and the cytoplasm.
positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BZI7 UPF3B Regulator of nonsense transcripts 3B Homo sapiens (Human) PR
10 20 30 40 50 60
MRSEKEGAGG LRAAVAARGP SGREKLSALE VQFHRDSQQQ EAETPPTSSS GCGGGAGKPR
70 80 90 100 110 120
EEKRTALSKV VIRRLPPGLT KEQLEEQLRP LPAHDYFEFF AADLSLYPHL YSRAYINFRN
130 140 150 160 170 180
PDDILLFRDR FDGYIFLDSK GLEYPAVVEF APFQKIAKKK LRKKDAKTGS IEDDPEYKKF
190 200 210 220 230 240
LETYCVEEEK TSANPETLLG EMEAKTRELI ARRTTPLLEY IKNRKLEKQR IREEKREERR
250 260 270 280 290 300
RRELEKKRLR EEEKRRRREE ERCKKKETDK QKKIAEKEVR IKLLKKPEKG EEPTTEKPKE
310 320 330 340 350 360
RGEEIDTGGG KQESCAPGAV VKARPMEGSL EEPQETSHSG SDKEHRDVER SQEQESEAQR
370 380 390 400 410 420
YHVDDGRRHR AHHEPERLSR RSEDEQRWGK GPGQDRGKKG SQDSGAPGEA MERLGRAQRC
430 440 450 460 470
DDSPAPRKER LANKDRPALQ LYDPGARFRA RECGGNRRIC KAEGSGTGPE KREEAE