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

14 structures for Q9ULX3

Entry ID Method Resolution Chain Position Source
6G18 EM 360 A y 1-412 PDB
6G4S EM 400 A y 1-412 PDB
6G51 EM 410 A y 1-412 PDB
6G53 EM 450 A y 1-412 PDB
6G5I EM 350 A y 1-412 PDB
6ZUO EM 310 A y 1-412 PDB
6ZXD EM 320 A y 1-412 PDB
6ZXE EM 300 A y 1-412 PDB
6ZXF EM 370 A y 1-412 PDB
7WTW EM 320 A y 1-412 PDB
7WTX EM 310 A y 1-412 PDB
7WTZ EM 300 A y 1-412 PDB
7WU0 EM 330 A y 1-412 PDB
AF-Q9ULX3-F1 Predicted AlphaFoldDB

432 variants for Q9ULX3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA396503212
rs1221169615
2 A>D No ClinGen
TOPMed
gnomAD
CA396503210
rs1221169615
2 A>V No ClinGen
TOPMed
gnomAD
CA396503209
rs1567645274
3 P>A No ClinGen
Ensembl
rs779746015
CA8136886
3 P>L No ClinGen
ExAC
gnomAD
CA396503200
rs1303417754
4 V>A No ClinGen
TOPMed
gnomAD
CA396503199
rs1303417754
4 V>G No ClinGen
TOPMed
gnomAD
rs1370315314
CA396503194
5 E>A No ClinGen
TOPMed
gnomAD
CA396503196
rs1370315314
5 E>G No ClinGen
TOPMed
gnomAD
CA283396908
rs573473324
5 E>K No ClinGen
1000Genomes
CA8136885
rs371086568
6 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136883
rs148444486
CA396503185
6 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136884
rs371086568
6 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283396895
rs1019734193
7 V>L No ClinGen
TOPMed
CA396503157
rs763123715
9 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8136882
rs763123715
9 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs765530372
CA396503132
11 A>G No ClinGen
ExAC
gnomAD
rs765530372
CA8136880
11 A>V No ClinGen
ExAC
gnomAD
rs561570866
CA8136879
12 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1230946335
CA396503115
13 A>T No ClinGen
TOPMed
gnomAD
rs1206442278
CA396503107
13 A>V No ClinGen
TOPMed
gnomAD
rs777010192
CA283396862
14 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA396503102
rs1277862380
14 F>V No ClinGen
gnomAD
rs777010192
CA8136878
14 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1227385239
CA396503082
16 R>W No ClinGen
gnomAD
CA396503065
rs1278081687
17 H>L No ClinGen
TOPMed
gnomAD
CA396503071
rs1370818453
17 H>Y No ClinGen
gnomAD
rs1444828755
CA396503059
18 A>T No ClinGen
gnomAD
CA283396843
rs868569248
18 A>V No ClinGen
gnomAD
CA283396836
rs995350853
19 A>V No ClinGen
Ensembl
rs149323142
CA396503023
21 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136875
rs149323142
21 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283396597
rs775032781
22 D>E No ClinGen
TOPMed
CA396502930
rs1359930148
24 G>R No ClinGen
gnomAD
CA8136855
rs773802175
25 K>N No ClinGen
ExAC
gnomAD
CA8136854
rs768064932
30 I>V No ClinGen
ExAC
gnomAD
CA8136852
rs534370822
31 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534370822
CA396502837
31 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769562492
CA8136853
31 R>W No ClinGen
ExAC
gnomAD
rs745638211
CA8136850
34 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA396502795
rs1421005354
35 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1421005354
CA396502796
35 T>P No ClinGen
TOPMed
gnomAD
rs1487915709
CA396502771
37 I>L No ClinGen
gnomAD
rs1382529224
CA396502765
37 I>T No ClinGen
TOPMed
rs866099272
CA283396577
38 R>Q No ClinGen
Ensembl
CA396502727
rs1220656545
40 K>N No ClinGen
TOPMed
gnomAD
CA8136848
rs548876427
40 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA283396567
rs1000859047
41 A>G No ClinGen
TOPMed
gnomAD
COSM704350
CA396502705
rs1281112665
42 T>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs746961475
CA8136846
43 R>L No ClinGen
ExAC
gnomAD
rs757218713
CA8136847
43 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs755017627
CA8136844
45 R>W No ClinGen
ExAC
gnomAD
CA396502667
rs1597619266
46 L>V No ClinGen
Ensembl
rs754016683
CA8136843
47 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA283396516
rs1014453392
47 A>V No ClinGen
TOPMed
CA396502652
rs1246576366
48 V>L No ClinGen
TOPMed
rs1425224816
CA396502625
51 Y>C No ClinGen
TOPMed
CA396502614
rs1297445413
52 E>A No ClinGen
gnomAD
CA396502595
rs1470980097
54 R>Q No ClinGen
TOPMed
gnomAD
CA283396489
rs376699080
54 R>W No ClinGen
gnomAD
rs1597619243
CA396502590
55 F>V No ClinGen
Ensembl
CA8136838
rs200769662
56 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA396502563
rs1426647057
57 E>G No ClinGen
gnomAD
CA396502547
rs1386262014
59 L>V No ClinGen
TOPMed
rs745661273
CA283396476
60 P>L No ClinGen
gnomAD
CA396502533
rs745661273
60 P>R No ClinGen
gnomAD
CA8136837
rs774845473
60 P>S No ClinGen
ExAC
gnomAD
CA8136836
rs377181676
62 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136835
rs762361319
63 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs769303366
CA8136833
64 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136834
rs373593608
64 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1247780048
CA396502009
68 E>D No ClinGen
TOPMed
rs144970081
CA8136810
71 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA283394646
rs372860357
72 K>E No ClinGen
ESP
TOPMed
CA283394631
rs888946950
73 T>I No ClinGen
TOPMed
rs888946950
CA396501975
73 T>R No ClinGen
TOPMed
CA396501966
rs1567644537
74 G>A No ClinGen
Ensembl
CA8136809
rs773108247
74 G>R No ClinGen
ExAC
gnomAD
rs1597618373
CA396501962
75 D>N No ClinGen
Ensembl
TCGA novel 75 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8136806
rs779940271
76 Y>S No ClinGen
ExAC
gnomAD
rs1261175053
CA396501925
77 P>L No ClinGen
gnomAD
CA283394581
rs370088586
77 P>S No ClinGen
ESP
TOPMed
gnomAD
rs769869014
CA8136805
78 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs897923990
CA283394567
79 L>F No ClinGen
gnomAD
rs781381974
CA8136803
82 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs868114755
CA283394539
85 Q>E No ClinGen
TOPMed
TCGA novel 87 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246679557
CA396501767
88 A>T No ClinGen
gnomAD
COSM972942
rs751843082
CA8136801
88 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1383552271
CA396501738
89 L>P No ClinGen
gnomAD
rs1299121919
CA396501713
90 T>I No ClinGen
gnomAD
CA396501703
rs1165984120
91 Y>C No ClinGen
gnomAD
CA8136798
rs753258652
91 Y>N No ClinGen
ExAC
gnomAD
rs1372576424
CA396501648
95 A>T No ClinGen
TOPMed
gnomAD
CA283394489
rs768744592
96 E>G No ClinGen
TOPMed
rs753455172
CA396501611
98 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs753455172
CA8136795
98 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136794
rs766107921
100 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 101 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8136792
rs772834575
102 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8136789
rs774343651
107 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8136790
rs761590982
107 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA283394444
rs761590982
107 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs768642056
CA8136788
108 Q>* No ClinGen
ExAC
gnomAD
CA396501462
rs768642056
108 Q>E No ClinGen
ExAC
gnomAD
rs201082498
CA283394414
108 Q>R No ClinGen
1000Genomes
TCGA novel 109 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8136766
rs771007827
114 S>L No ClinGen
ExAC
rs773476588
CA8136765
115 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA8136764
rs773476588
115 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136762
rs367786741
116 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136761
rs779460417
117 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 120 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431730457
CA396501082
122 P>S No ClinGen
gnomAD
CA283392448
rs999336748
124 H>Y No ClinGen
TOPMed
CA8136760
rs755501551
125 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA283392445
rs755501551
125 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs981358617
CA283392441
126 S>F No ClinGen
gnomAD
rs1241915005
CA396501038
129 H>R No ClinGen
gnomAD
rs751320087
CA8136754
133 K>* No ClinGen
ExAC
TOPMed
gnomAD
CA8136753
rs751320087
133 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA396501015
rs751320087
133 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1350384735
CA396501013
133 K>R No ClinGen
gnomAD
rs376673166 134 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1384426386
CA396500995
134 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA283392271
rs1034084821
135 K>N No ClinGen
TOPMed
rs1446436729
CA396500982
136 P>S No ClinGen
gnomAD
rs1597617047
CA396500977
137 P>A No ClinGen
Ensembl
rs1413887220
CA396500973
137 P>L No ClinGen
gnomAD
rs1185439446
CA396500969
138 Q>E No ClinGen
gnomAD
rs1243509562
CA396500953
140 T>A No ClinGen
gnomAD
rs556913653
CA8136732
141 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1291566861
CA396500935
142 K>N No ClinGen
gnomAD
rs373929661
CA8136731
143 G>R No ClinGen
ESP
ExAC
gnomAD
CA283392255
rs898759808
145 S>P No ClinGen
Ensembl
rs1567643525
CA396500910
146 A>V No ClinGen
Ensembl
CA396500896
rs1399909961
148 E>V No ClinGen
TOPMed
CA8136726
rs759429035
154 F>L No ClinGen
ExAC
gnomAD
CA396500841
rs1400896972
156 S>P No ClinGen
gnomAD
CA8136725
rs199909206
158 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA283392226
rs1056809288
160 W>R No ClinGen
Ensembl
CA8136723
rs767516188
163 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA283392214
rs977069740
165 P>R No ClinGen
TOPMed
gnomAD
rs1407742102
CA396500744
165 P>S No ClinGen
gnomAD
rs1407742102
CA396500743
165 P>T No ClinGen
gnomAD
CA8136720
rs774712134
166 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA283392208
rs774712134
166 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs369130166
CA396500698
167 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396500664
rs1489726256
169 H>Y No ClinGen
gnomAD
CA396500648
rs1453021765
170 E>K No ClinGen
TOPMed
CA8136716
rs770299144
171 L>P No ClinGen
ExAC
gnomAD
rs775760815
CA8136717
171 L>V No ClinGen
ExAC
gnomAD
rs1260143759
CA396500610
172 Q>* No ClinGen
TOPMed
gnomAD
rs780699346
CA8136715
172 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs780699346
CA8136714
172 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA283392173
rs377474731
174 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136690
rs142056738
176 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136689
rs548802495
176 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396500486
rs1378573901
177 D>Y No ClinGen
gnomAD
CA396500469
rs1179360018
178 R>I No ClinGen
TOPMed
CA8136688
rs778711110
179 G>S No ClinGen
ExAC
gnomAD
CA396500448
rs917744432
180 E>D No ClinGen
TOPMed
gnomAD
CA283392004
rs200787858
180 E>V No ClinGen
1000Genomes
CA8136686
rs749166459
182 V>I No ClinGen
ExAC
gnomAD
rs1254223112
CA396500412
184 S>N No ClinGen
gnomAD
rs1056588735
CA283391991
185 E>K No ClinGen
Ensembl
rs1202379888
CA396500388
186 E>Q No ClinGen
TOPMed
gnomAD
rs141066738
CA396500371
187 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141066738
CA8136685
187 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396500375
rs1483739204
187 E>Q No ClinGen
TOPMed
gnomAD
rs756162538
CA396500367
188 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs756162538
CA8136684
188 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764295087
CA8136679
193 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs148140126
CA8136678
194 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201940286
CA8136676
200 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136677
rs373901607
200 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1362884821
CA396500222
202 D>N No ClinGen
TOPMed
gnomAD
rs569301973
CA8136673
204 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202043710
CA396500199
205 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8136671
rs772658224
205 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs202043710
CA8136669
205 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8136668
rs532411017
206 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA396500197
rs1460541902
206 G>S No ClinGen
TOPMed
rs1214772070 206 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA283391920
rs975716353
208 W>R No ClinGen
Ensembl
rs964023145
CA283391917
209 I>V No ClinGen
Ensembl
CA396500172
rs1597616806
210 T>P No ClinGen
Ensembl
rs1286547659
CA396500159
212 S>G No ClinGen
gnomAD
rs1221651110
CA396500138
214 I>M No ClinGen
TOPMed
gnomAD
rs1597616794
CA396500142
214 I>V No ClinGen
Ensembl
rs773862518
CA8136667
215 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8136665
rs749007038
216 Q>H No ClinGen
ExAC
gnomAD
rs780029064
CA8136664
218 Q>H No ClinGen
ExAC
gnomAD
CA396500105
rs1311499490
219 Q>K No ClinGen
TOPMed
rs1292954268
CA396499538
220 E>G No ClinGen
gnomAD
CA396499487
rs1299260798
221 L>Q No ClinGen
gnomAD
CA396499496
rs1299260798
221 L>R No ClinGen
gnomAD
CA8136662
rs745817578
221 L>V No ClinGen
ExAC
gnomAD
rs777937553
CA8136661
223 Q>P No ClinGen
ExAC
gnomAD
CA8136656
rs754109316
226 V>A No ClinGen
ExAC
gnomAD
rs140707395
CA8136658
226 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140707395
CA8136657
226 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761111639
CA8136654
228 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396499317
rs1209849346
229 D>N No ClinGen
TOPMed
rs528824487
CA8136652
CA396499291
230 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8136651
rs528824487
230 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs3811348
CA396499277
231 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136648
rs3811348
VAR_050287
231 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8136649
rs370794024
231 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136646
rs543289898
232 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs543289898
CA8136647
232 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8136645
rs377576075
233 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1404742484
CA396499198
236 T>S No ClinGen
gnomAD
CA8136644
rs781258553
236 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA396499182
rs1326084748
237 T>A No ClinGen
gnomAD
rs1387920117
CA396499172
237 T>I No ClinGen
gnomAD
rs1233823580
CA396499126
240 A>G No ClinGen
gnomAD
CA8136643
rs748142401
240 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs748142401
CA8136642
240 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8136641
rs147575559
241 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396499123
rs1424638075
241 M>L No ClinGen
gnomAD
CA396498958
rs1156979781
246 L>P No ClinGen
TOPMed
rs770730342
CA8136623
247 Q>K No ClinGen
ExAC
gnomAD
rs768785553
CA8136620
251 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1281094692
CA396498875
251 H>Y No ClinGen
gnomAD
CA8136618
rs558915977
252 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558915977
CA8136617
252 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746189885
CA8136616
254 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8136614
rs757644602
255 V>A No ClinGen
ExAC
gnomAD
rs757644602
CA396498834
255 V>G No ClinGen
ExAC
gnomAD
CA283391429
rs867680314
257 G>D No ClinGen
Ensembl
CA8136612
rs143188741
257 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396498771
rs1418901500
258 M>I No ClinGen
gnomAD
CA8136611
rs757908565
258 M>R No ClinGen
ExAC
gnomAD
CA396498747
rs1358433967
260 I>T No ClinGen
gnomAD
rs759296939
CA396498740
261 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759296939
CA8136609
261 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8136606
rs766211851
261 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766211851
CA8136607
261 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136608
rs759296939
261 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1179619965
CA396498732
262 E>K No ClinGen
gnomAD
CA283391409
rs140750415
263 A>T No ClinGen
ESP
gnomAD
CA8136605
rs144951532
263 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775577759
CA8136601
264 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749334665
CA8136602
264 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs555253831
CA8136600
265 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs746101501
CA8136599
267 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs149902028
CA8136597
269 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149902028
CA8136598
269 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199699618
CA8136595
COSM1217537
269 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199699618
CA8136596
269 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs759018028
CA8136594
270 C>G No ClinGen
ExAC
gnomAD
rs752218885
CA8136593
271 H>R No ClinGen
ExAC
gnomAD
CA283391353
rs201781279
273 C>W No ClinGen
Ensembl
rs1338140443
CA396498602
CA396498604
274 F>L No ClinGen
TOPMed
gnomAD
CA8136591
rs199696552
275 K>E No ClinGen
1000Genomes
ExAC
TOPMed
rs551815268
CA8136590
275 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8136568
rs139171866
277 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140714914
CA8136567
277 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140714914
CA396498235
277 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136564
rs751491953
280 M>L No ClinGen
ExAC
gnomAD
CA8136563
rs764073447
280 M>T No ClinGen
ExAC
gnomAD
CA396498210
rs751491953
280 M>V No ClinGen
ExAC
gnomAD
rs373158111
CA8136562
282 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373158111
CA8136561
COSM1379256
282 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1450012038
CA396498176
283 V>M No ClinGen
TOPMed
TCGA novel 284 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456578440
CA396498149
285 C>G No ClinGen
gnomAD
CA8136559
rs760833894
286 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136560
rs771149481
286 S>P No ClinGen
ExAC
gnomAD
rs1299005087
CA396498123
287 H>R No ClinGen
gnomAD
rs369384135
CA8136558
287 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144374127
CA8136557
288 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144374127
CA8136556
288 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136554
rs769336680
290 N>D No ClinGen
ExAC
gnomAD
rs748801425
CA8136553
290 N>K No ClinGen
ExAC
gnomAD
rs779451471
CA396498070
291 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs140632082
CA8136551
292 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs569105886
CA8136550
294 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8136549
rs780887579
295 K>N No ClinGen
ExAC
gnomAD
rs1465285998
CA396498019
296 V>A No ClinGen
TOPMed
gnomAD
rs1435373076
CA396498006
297 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 297 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201329814
CA8136546
297 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA283389207
rs372933003
298 V>M No ClinGen
ESP
TOPMed
gnomAD
CA8136544
rs753909517
299 T>A No ClinGen
ExAC
gnomAD
rs1240163234
CA396497983
299 T>I No ClinGen
gnomAD
rs200093997
CA8136541
300 V>I No ClinGen
ExAC
gnomAD
rs762247376
CA8136539
301 S>N No ClinGen
ExAC
gnomAD
CA8136540
rs550706516
301 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1246987821
CA396497942
302 D>H No ClinGen
TOPMed
rs749772355
CA8136536
303 D>N No ClinGen
ExAC
gnomAD
rs375951032
CA8136534
304 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745439543
CA8136533
306 L>P No ClinGen
ExAC
gnomAD
CA8136531
rs756940203
308 M>T No ClinGen
ExAC
gnomAD
rs1301418374
CA396497827
308 M>V No ClinGen
gnomAD
rs1158556594
CA396497809
309 H>R No ClinGen
gnomAD
CA8136530
rs746762242
309 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1382174482
CA396497780
312 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8136527
rs143009356
312 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA283389142
rs143009356
312 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136528
rs143009356
312 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136525
rs756136944
314 P>L No ClinGen
ExAC
gnomAD
rs921404406
CA283389124
315 K>R No ClinGen
Ensembl
CA396497731
rs1169076635
316 V>A No ClinGen
TOPMed
rs1183861633
CA396497718
317 L>V No ClinGen
TOPMed
gnomAD
rs1041253548
CA283389119
318 N>H No ClinGen
TOPMed
CA283389114
rs1025882909
318 N>K No ClinGen
TOPMed
gnomAD
CA8136524
rs750581436
318 N>S No ClinGen
ExAC
gnomAD
CA283389110
rs944434138
319 P>A No ClinGen
Ensembl
rs1355775499
CA396497168
319 P>H No ClinGen
gnomAD
CA283389097
rs201985418
320 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136522
rs201985418
320 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774798065
CA8136521
320 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396497143
rs763441100
321 G>R No ClinGen
ExAC
TOPMed
rs763441100
CA8136519
321 G>S No ClinGen
ExAC
TOPMed
CA8136518
rs775844742
322 L>F No ClinGen
ExAC
gnomAD
CA8136516
rs575122853
323 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770379216
CA8136517
323 R>W No ClinGen
ExAC
gnomAD
CA396496366
rs199696927
324 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8136491
rs199696927
324 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs771807789
CA8136490
325 S>L No ClinGen
ExAC
gnomAD
CA8136485
rs780207082
327 P>T No ClinGen
ExAC
gnomAD
rs1597613685
CA396496308
328 T>I No ClinGen
Ensembl
CA396496305
rs1194829691
329 P>S No ClinGen
gnomAD
CA8136483
rs751735190
331 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs751735190
CA8136484
331 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA283387584
rs943498114
332 G>A No ClinGen
Ensembl
rs1405616927
CA396496280
333 K>R No ClinGen
TOPMed
TCGA novel
rs199873991
CA283387574
334 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
NCI-TCGA
rs374897147
CA8136481
334 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136480
rs200973241
335 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA283387571
rs1052182555
335 A>V No ClinGen
TOPMed
CA8136479
rs769656111
337 N>S No ClinGen
ExAC
gnomAD
rs769656111
CA396496228
337 N>T No ClinGen
ExAC
gnomAD
rs1476970336
CA396496218
338 P>T No ClinGen
gnomAD
CA396496204
rs562027876
339 H>D No ClinGen
1000Genomes
ExAC
gnomAD
CA8136476
rs148297045
339 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA283387565
rs148297045
339 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs562027876
CA8136477
339 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA396496191
rs1234505164
340 L>V No ClinGen
TOPMed
CA283387561
rs933762241
341 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8136471
rs773950270
342 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs768566151
CA8136470
342 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA396496149
rs1438054016
342 E>D No ClinGen
TOPMed
CA8136472
rs773950270
342 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396496148
rs1200263600
343 D>N No ClinGen
TOPMed
gnomAD
rs1200263600
CA396496143
343 D>Y No ClinGen
TOPMed
gnomAD
rs144311268
CA8136468
344 Q>E No ClinGen
ESP
ExAC
gnomAD
rs367776601
CA8136467
COSM417300
345 R>C Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8136466
rs202231111
345 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8136465
rs202231111
345 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752972297
CA8136463
347 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8136460
rs200241603
350 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1168412771
CA396496033
350 R>Q No ClinGen
TOPMed
CA396496011
rs749853972
352 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA8136455
rs767068331
352 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs749853972
CA8136456
352 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1402165712
CA396496001
353 Q>* No ClinGen
TOPMed
CA8136454
rs149583705
353 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200699147
CA283387502
354 K>M No ClinGen
TOPMed
rs959461388
CA283387501
357 Q>* No ClinGen
Ensembl
CA396495916
rs1470281461
359 T>A No ClinGen
TOPMed
gnomAD
rs1470281461
CA396495918
359 T>P No ClinGen
TOPMed
gnomAD
CA396495912
rs1567641218
359 T>S No ClinGen
Ensembl
rs770744330
CA8136452
361 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs199823310
CA8136450
CA8136449
362 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200963044
CA8136448
363 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136447
rs773101833
364 P>A No ClinGen
ExAC
gnomAD
CA396495817
rs1283799001
365 D>E No ClinGen
TOPMed
gnomAD
CA8136445
rs748236455
365 D>G No ClinGen
ExAC
gnomAD
CA8136446
rs772192178
365 D>N No ClinGen
ExAC
gnomAD
CA396495809
rs1075935
366 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136444
rs1075935
VAR_050288
366 Y>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755234226
CA396495802
367 I>F No ClinGen
ExAC
gnomAD
rs371437900
CA8136442
367 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755234226
CA8136443
367 I>V No ClinGen
ExAC
gnomAD
CA8136440
rs750935720
368 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750935720
CA8136439
368 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8136438
rs767966673
368 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs150459642
CA8136436
369 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136435
rs763796065
369 G>V No ClinGen
ExAC
gnomAD
CA396495743
rs150459642
369 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136433
rs775362926
371 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8136432
rs765124938
372 P>L No ClinGen
ExAC
gnomAD
CA396495701
rs1189121083
372 P>T No ClinGen
gnomAD
rs759320295
CA396495694
373 F>I No ClinGen
ExAC
gnomAD
rs759320295
CA8136431
373 F>V No ClinGen
ExAC
gnomAD
rs770825976
CA8136429
375 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs368680835
CA396495626
377 D>H No ClinGen
ESP
TOPMed
gnomAD
rs368680835
CA283387437
377 D>N No ClinGen
ESP
TOPMed
gnomAD
rs748231308
CA8136428
377 D>V No ClinGen
ExAC
gnomAD
CA396495607
rs1337242239
378 I>F No ClinGen
gnomAD
CA396495609
rs1337242239
378 I>V No ClinGen
gnomAD
CA8136427
rs112175164
379 S>P No ClinGen
ExAC
gnomAD
CA283387434
rs112175164
379 S>T No ClinGen
ExAC
gnomAD
rs145274258
CA8136425
COSM1379254
381 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396495580
rs1290543750
381 R>H No ClinGen
TOPMed
gnomAD
CA396495578
rs1290543750
381 R>L No ClinGen
TOPMed
gnomAD
rs756486064
CA8136423
382 S>L No ClinGen
ExAC
gnomAD
CA396495527
rs1462644831
385 L>P No ClinGen
TOPMed
gnomAD
CA396495525
rs1462644831
385 L>R No ClinGen
TOPMed
gnomAD
CA396495506
rs1454881326
386 Q>H No ClinGen
TOPMed
CA8136421
rs781701396
386 Q>R No ClinGen
ExAC
gnomAD
rs920287409
CA283387421
387 V>I No ClinGen
TOPMed
CA8136420
rs757734469
388 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 388 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs567828761
CA8136419
388 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA283387419
rs757734469
388 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs907698855
CA283387403
389 D>N No ClinGen
TOPMed
gnomAD
CA8136417
rs192458406
390 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8136414
rs61731358
393 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8136415
rs765043201
393 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8136413
rs753620220
395 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA396495372
rs1274010799
395 G>R No ClinGen
gnomAD
rs372678543
CA8136411
396 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8136412
rs200044448
396 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774359564
CA8136410
397 R>S No ClinGen
ExAC
gnomAD
CA8136409
rs768728190
398 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763077738
CA8136408
398 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1394647849
CA396495336
399 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1349874888
CA396495309
401 P>S No ClinGen
TOPMed
rs1022069775
CA283387375
402 N>H No ClinGen
TOPMed
rs769948978
CA8136406
402 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs956504618
CA283387365
403 A>T No ClinGen
TOPMed
gnomAD
CA396495259
rs1439589272
406 K>R No ClinGen
TOPMed
rs372723562
CA396495240
407 K>N No ClinGen
ESP
TOPMed
rs771407166
CA8136403
407 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs939689278
CA283387336
410 K>R No ClinGen
TOPMed
rs778486819
CA396495204
411 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1324744330
CA396495188
413 R>C No ClinGen
TOPMed
CA396495191
rs1456621000
413 R>L No ClinGen
gnomAD

No associated diseases with Q9ULX3

4 regional properties for Q9ULX3

Type Name Position InterPro Accession
domain PIN domain 5 - 108 IPR002716
domain Nin one binding (NOB1) Zn-ribbon-like 260 - 332 IPR014881
domain Ribonuclease, PIN domain 7 - 109 IPR033411
domain Putative WW-binding domain and destruction box 153 - 212 IPR033461

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
preribosome, small subunit precursor A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit.

2 GO annotations of molecular function

Name Definition
endoribonuclease activity Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks.
metal ion binding Binding to a metal ion.

4 GO annotations of biological process

Name Definition
cleavage involved in rRNA processing Any phosphodiester bond hydrolysis involved in the conversion of a primary ribosomal RNA (rRNA) transcript into a mature rRNA molecule.
maturation of SSU-rRNA Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule.
rRNA processing Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.
visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3T042 NOB1 RNA-binding protein NOB1 Bos taurus (Bovine) PR
Q8BW10 Nob1 RNA-binding protein NOB1 Mus musculus (Mouse) PR
Q6VEU1 Nob1 RNA-binding protein NOB1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAPVEHVVAD AGAFLRHAAL QDIGKNIYTI REVVTEIRDK ATRRRLAVLP YELRFKEPLP
70 80 90 100 110 120
EYVRLVTEFS KKTGDYPSLS ATDIQVLALT YQLEAEFVGV SHLKQEPQKV KVSSSIQHPE
130 140 150 160 170 180
TPLHISGFHL PYKPKPPQET EKGHSACEPE NLEFSSFMFW RNPLPNIDHE LQELLIDRGE
190 200 210 220 230 240
DVPSEEEEEE ENGFEDRKDD SDDDGGGWIT PSNIKQIQQE LEQCDVPEDV RVGCLTTDFA
250 260 270 280 290 300
MQNVLLQMGL HVLAVNGMLI REARSYILRC HGCFKTTSDM SRVFCSHCGN KTLKKVSVTV
310 320 330 340 350 360
SDDGTLHMHF SRNPKVLNPR GLRYSLPTPK GGKYAINPHL TEDQRFPQLR LSQKARQKTN
370 380 390 400 410
VFAPDYIAGV SPFVENDISS RSATLQVRDS TLGAGRRRLN PNASRKKFVK KR