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

6 structures for Q9UJV9

Entry ID Method Resolution Chain Position Source
2P6N X-ray 260 A A/B 402-569 PDB
5GVR X-ray 150 A A 169-402 PDB
5GVS X-ray 220 A A/B/C/D 169-399 PDB
5H1Y X-ray 226 A A/B 153-410 PDB
8C6J EM 280 A CD 1-622 PDB
AF-Q9UJV9-F1 Predicted AlphaFoldDB

426 variants for Q9UJV9

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001256171
rs141601766
RCV000519179
RCV001256169
RCV000210251
1 M>I DDX41-related hematologic malignancy predisposition syndrome Myelodysplasia [ClinVar] Yes ClinVar
dbSNP
rs746278774
RCV000579037
RCV001764696
CA3585373
41 Q>* DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001819963
RCV001256176
rs377745714
CA3585315
48 Q>* Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV003222279
rs766117035
RCV001256167
53 R>missing Myelodysplasia [ClinVar] Yes ClinVar
dbSNP
RCV000503753
rs1554111683
78 P>missing DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinVar
dbSNP
CA3585295
rs773991873
RCV001256174
85 V>F Aplastic anemia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1554111653
RCV000502578
108 K>missing DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinVar
dbSNP
rs1297703150
RCV001256172
124 R>* Myelodysplasia [ClinVar] Yes ClinVar
dbSNP
RCV000210272
RCV000193600
rs762890562
RCV001008139
CA280919
140 D>G DDX41-related hematologic malignancy predisposition syndrome Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001818508
RCV000210264
CA358665
VAR_076360
rs142143752
164 R>W DDX41-related hematologic malignancy predisposition syndrome MPLPF; unknown pathological significance; no effect on localization [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001256173
CA3585177
rs746166328
RCV001760302
RCV002222688
173 G>R DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3585049
rs780209663
RCV000465916
237 L>F Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs376093707
CA3585048
RCV000465916
238 P>T Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1761157695
RCV001256168
240 I>missing Acute myeloid leukemia [ClinVar] Yes ClinVar
dbSNP
RCV000504169
CA362374394
rs774698335
339 R>L DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000500690
rs1554111073
382 I>missing DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinVar
dbSNP
rs747072227
RCV001553497
RCV000210262
VAR_076361
CA358663
396 I>T DDX41-related hematologic malignancy predisposition syndrome MPLPF; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA358659
rs869312828
RCV000210250
VAR_076362
RCV002288840
525 R>H DDX41-related hematologic malignancy predisposition syndrome MPLPF; no effect on localization; changed interaction with spliceosomal complexes [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001256170
rs866179648
RCV002462887
529 T>missing Acute myeloid leukemia [ClinVar] Yes ClinVar
dbSNP
CA132889319
RCV001255164
RCV002570584
rs969403252
556 K>N DDX41-related hematologic malignancy predisposition syndrome [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA3585442
rs138435584
2 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362378197
rs1399847240
2 E>G No ClinGen
gnomAD
rs950718925
CA132896526
2 E>K No ClinGen
gnomAD
CA362378189
rs994034775
3 E>D No ClinGen
TOPMed
CA3585441
rs779986873
3 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3585439
rs745639610
4 S>L No ClinGen
ExAC
gnomAD
CA3585440
rs771770596
4 S>T No ClinGen
ExAC
gnomAD
CA362378182
rs779029308
5 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs779029308
CA3585438
5 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs757444745
CA3585437
6 P>R No ClinGen
ExAC
gnomAD
CA362378171
rs749405703
7 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA3585436
rs749405703
7 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs749405703
CA132896497
7 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777823752
CA3585435
8 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1261255726
CA362378161
9 K>E No ClinGen
TOPMed
gnomAD
rs1261255726
CA362378159
9 K>Q No ClinGen
TOPMed
gnomAD
CA362377990
rs1161708828
10 R>G No ClinGen
TOPMed
gnomAD
rs749014474
CA3585400
10 R>Q No ClinGen
ExAC
gnomAD
CA362377989
rs1161708828
10 R>W No ClinGen
TOPMed
gnomAD
rs144762739
CA3585399
11 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585398
rs769954237
12 R>C No ClinGen
ExAC
gnomAD
CA3585397
rs61736559
13 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362377976
rs1581811333
13 T>P No ClinGen
Ensembl
CA362377962
rs1182905371
15 E>Q No ClinGen
gnomAD
CA3585396
rs781328203
16 V>L No ClinGen
ExAC
gnomAD
rs781328203
CA362377955
16 V>M No ClinGen
ExAC
gnomAD
CA3585394
rs747566780
18 A>T No ClinGen
ExAC
gnomAD
rs545124279
CA3585392
19 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs780643002
CA3585393
CA132896120
19 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3585391
rs192558384
20 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362377936
rs1374496908
20 G>R No ClinGen
gnomAD
CA362377918
rs1330322681
22 R>H No ClinGen
gnomAD
rs755765308
CA3585389
23 S>C No ClinGen
ExAC
gnomAD
rs755765308
CA3585388
23 S>F No ClinGen
ExAC
gnomAD
rs1407262321
CA362377913
24 E>K No ClinGen
gnomAD
rs752211686
CA3585387
25 A>G No ClinGen
ExAC
gnomAD
CA362377901
rs752211686
25 A>V No ClinGen
ExAC
gnomAD
rs1433636328
CA362377884
28 E>K No ClinGen
TOPMed
rs138939116
CA362377867
29 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs975031026
CA132896060
29 D>N No ClinGen
Ensembl
CA3585382
rs377090308
30 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362377861
rs559527781
30 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559527781
CA3585383
30 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
RCV000482372
CA16618188
rs1064794842
31 E>K No ClinGen
ClinVar
TOPMed
dbSNP
rs772969629
CA3585381
32 D>A No ClinGen
ExAC
gnomAD
CA362377833
rs1245318068
32 D>H No ClinGen
gnomAD
rs1245318068
CA362377835
32 D>N No ClinGen
gnomAD
rs762082953
CA3585379
33 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs150205465
CA3585380
33 Y>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362377803
rs1453455783
34 V>G No ClinGen
Ensembl
CA132896011
rs984823447
35 P>L No ClinGen
gnomAD
CA362377792
rs984823447
35 P>R No ClinGen
gnomAD
CA3585377
rs768787901
36 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA3585376
rs11555633
38 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA132895998
rs11555633
38 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585375
rs11555633
38 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1406601195
CA362377769
38 P>S No ClinGen
gnomAD
rs1362518112
CA362377746
40 R>L No ClinGen
TOPMed
gnomAD
rs1398182183
CA362377750
40 R>W No ClinGen
gnomAD
CA362377738
rs1204442192
41 Q>L No ClinGen
TOPMed
CA362377733
rs1414400375
42 R>G No ClinGen
gnomAD
CA362377734
rs1414400375
42 R>S No ClinGen
gnomAD
CA362377711
rs1174618522
44 Q>* No ClinGen
TOPMed
gnomAD
rs1316833419
CA362377550
47 L>F No ClinGen
TOPMed
gnomAD
rs771688240
CA3585314
51 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3585313
rs745421135
53 R>G No ClinGen
ExAC
gnomAD
rs1364366603
CA362377471
54 R>S No ClinGen
TOPMed
gnomAD
rs1175013945
CA362377465
55 R>C No ClinGen
TOPMed
gnomAD
CA362377461
rs1479333618
55 R>L No ClinGen
gnomAD
CA362377434
rs1431667147
58 A>G No ClinGen
TOPMed
gnomAD
CA362377432
rs1431667147
58 A>V No ClinGen
TOPMed
gnomAD
rs867483729
CA132895496
59 A>S No ClinGen
Ensembl
rs1261080038
CA362377399
61 E>D No ClinGen
gnomAD
CA132895489
rs368429550
62 E>K No ClinGen
Ensembl
rs749201065
CA3585310
63 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA362377329
rs1231474960
66 S>R No ClinGen
gnomAD
CA362377324
rs970338234
67 G>R No ClinGen
TOPMed
gnomAD
CA132895475
rs970338234
67 G>S No ClinGen
TOPMed
gnomAD
CA362377315
rs1363890206
68 S>G No ClinGen
gnomAD
rs1038728566
CA132895457
69 E>D No ClinGen
Ensembl
CA3585308
rs756008087
70 P>S No ClinGen
ExAC
gnomAD
rs1007652200
CA132895437
71 R>Q No ClinGen
TOPMed
CA3585307
rs752494819
72 G>R No ClinGen
ExAC
gnomAD
rs781615975
CA3585306
73 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA3585305
rs755126084
76 D>E No ClinGen
ExAC
gnomAD
rs1359672157
CA362377214
77 I>V No ClinGen
gnomAD
CA362377203
rs1164510310
78 P>A No ClinGen
TOPMed
CA3585304
rs766355942
78 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3585303
rs766355942
78 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750924167
CA3585301
79 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA3585300
rs765682063
81 P>L No ClinGen
ExAC
CA362377176
rs1178457155
81 P>S No ClinGen
gnomAD
rs771776006
CA3585297
83 S>F No ClinGen
ExAC
gnomAD
CA3585296
rs759093303
84 N>K No ClinGen
ExAC
gnomAD
rs773991873
CA362377152
85 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3585293
rs199675507
90 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA362377074
rs1340906536
93 H>Q No ClinGen
TOPMed
rs1264141023
CA362377081
93 H>Y No ClinGen
gnomAD
rs1413731747
CA362377043
96 E>Q No ClinGen
TOPMed
rs746011638
CA3585261
105 A>G No ClinGen
ExAC
gnomAD
rs1338679836
CA362376860
107 E>G No ClinGen
gnomAD
rs1327804634
CA362376703
120 V>L No ClinGen
TOPMed
RCV002249532
CA132895108
RCV000822333
rs200567842
122 E>* No ClinGen
ClinVar
TOPMed
dbSNP
rs772916947
CA3585252
122 E>V No ClinGen
ExAC
gnomAD
CA3585251
rs764853110
123 G>S No ClinGen
ExAC
gnomAD
rs771853983
CA3585224
130 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs774582005
CA3585222
134 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1007976783
CA132894900
135 G>S No ClinGen
TOPMed
gnomAD
rs1249860463
CA362376495
136 I>V No ClinGen
gnomAD
CA362376478
rs1407903590
137 T>M No ClinGen
gnomAD
rs748703307
CA3585217
139 D>E No ClinGen
ExAC
gnomAD
CA3585218
rs770263914
139 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA3585219
rs375462407
139 D>H No ClinGen
ESP
ExAC
gnomAD
rs1461623455
CA362376313
140 D>E No ClinGen
gnomAD
rs781486582
CA3585216
141 P>L No ClinGen
ExAC
gnomAD
rs1316889386
CA362376303
142 I>T No ClinGen
gnomAD
rs915284509
CA132893653
146 W>* No ClinGen
Ensembl
rs990049233
CA362376247
149 P>A No ClinGen
gnomAD
rs990049233
CA132893645
149 P>S No ClinGen
gnomAD
CA362376241
rs1420691936
150 R>C No ClinGen
TOPMed
gnomAD
rs1420691936
CA362376242
150 R>G No ClinGen
TOPMed
gnomAD
CA132893620
rs763624515
150 R>H No ClinGen
gnomAD
CA3585196
rs747442017
151 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA3585194
rs758775538
152 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs151196255
CA3585193
154 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362376217
rs1421882404
154 S>T No ClinGen
TOPMed
rs199697328
CA3585190
155 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585191
rs755669218
155 M>T No ClinGen
ExAC
gnomAD
rs767486464
CA3585189
158 E>D No ClinGen
ExAC
gnomAD
CA3585188
rs754907965
159 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA3585187
rs751416476
159 R>Q No ClinGen
ExAC
gnomAD
rs879654141
CA132893532
160 H>R No ClinGen
TOPMed
COSM3410168
rs766175686
CA3585186
162 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA362376166
rs1284585050
162 R>H No ClinGen
gnomAD
rs1287073745
CA362376159
163 V>A No ClinGen
gnomAD
CA3585184
rs773515517
163 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3585183
rs761993024
164 R>Q No ClinGen
ExAC
gnomAD
rs1482033656
CA362376143
166 K>R No ClinGen
TOPMed
CA564900913
rs1199585468
167 Y>* No ClinGen
gnomAD
CA362376138
rs1431734476
167 Y>H No ClinGen
gnomAD
CA132893472
rs985879684
168 H>Y No ClinGen
gnomAD
CA362376123
rs1260196190
169 I>V No ClinGen
gnomAD
rs776070170
CA3585179
170 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA3585178
rs200005940
171 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA362376113
rs200005940
171 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA362376084
rs1233284218
175 G>D No ClinGen
gnomAD
CA132893409
rs377695856
175 G>R No ClinGen
ESP
TOPMed
gnomAD
rs377695856
CA362376087
175 G>S No ClinGen
ESP
TOPMed
gnomAD
CA3585176
rs551512601
176 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA3585174
rs747762811
177 P>A No ClinGen
ExAC
gnomAD
rs1365910639
CA362376069
178 P>S No ClinGen
gnomAD
CA3585172
rs376128262
180 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585173
rs376128262
180 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751504268
CA132893386
181 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs766263690
CA3585170
182 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs758235844
CA3585169
183 F>Y No ClinGen
ExAC
gnomAD
CA3585168
rs765561953
184 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA3585167
rs765561953
184 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1019261450
CA132893356
186 M>I No ClinGen
TOPMed
CA3585166
rs185950985
187 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1490572026
CA362375974
188 F>I No ClinGen
TOPMed
gnomAD
CA3585165
rs776934246
189 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA362375959
rs1450576850
189 P>S No ClinGen
TOPMed
gnomAD
rs764270729
CA3585164
190 A>T No ClinGen
ExAC
gnomAD
rs760795625
CA3585163
190 A>V No ClinGen
ExAC
gnomAD
rs1004241531
CA132892798
193 L>V No ClinGen
TOPMed
gnomAD
rs771510721
CA3585098
195 G>S No ClinGen
ExAC
gnomAD
CA3585097
rs745329544
195 G>V No ClinGen
ExAC
gnomAD
rs149122003
CA362375718
197 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585092
rs755920162
200 G>D No ClinGen
ExAC
gnomAD
CA362375666
rs1474350454
202 H>Q No ClinGen
TOPMed
gnomAD
rs905341773
CA132892764
203 H>R No ClinGen
gnomAD
rs1196477633
CA362375663
203 H>Y No ClinGen
TOPMed
CA362375639
rs1188918884
205 T>K No ClinGen
gnomAD
CA3585091
rs373575560
206 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362375631
rs1480532080
206 P>L No ClinGen
TOPMed
rs1241092852
CA362375618
208 Q>E No ClinGen
gnomAD
CA362375604
rs1581807992
209 I>S No ClinGen
Ensembl
rs755036127
CA3585089
210 Q>H No ClinGen
ExAC
gnomAD
rs1272360706
CA362375584
211 G>D No ClinGen
gnomAD
rs766913824
CA3585087
213 P>H No ClinGen
ExAC
gnomAD
rs1466709476
CA362375554
214 T>A No ClinGen
TOPMed
CA362375549
rs1299024433
214 T>I No ClinGen
gnomAD
rs573545872
CA3585086
215 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369566052
CA3585084
215 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs573545872
CA3585085
215 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376867329
CA3585064
217 S>P No ClinGen
ESP
ExAC
gnomAD
rs765680048
CA3585063
218 G>C No ClinGen
ExAC
gnomAD
CA3585062
rs371460149
218 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362375483
rs1162015461
219 R>C No ClinGen
TOPMed
CA3585061
rs754196793
219 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1166599072
CA362375458
221 M>I No ClinGen
gnomAD
rs773819724
CA3585058
225 A>T No ClinGen
ExAC
gnomAD
CA3585056
rs762515434
230 G>R No ClinGen
ExAC
gnomAD
CA3585054
rs769832683
232 T>I No ClinGen
ExAC
gnomAD
rs747256985
CA3585050
236 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs890612475
CA132892330
237 L>W No ClinGen
TOPMed
rs376093707
CA3585047
238 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362375300
rs1352012150
239 V>I No ClinGen
gnomAD
CA3585044
rs139112542
240 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362375290
rs1433369826
240 I>T No ClinGen
gnomAD
CA3585045
rs139112542
240 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3585043
rs778216275
241 M>T No ClinGen
ExAC
TOPMed
CA132892277
rs551630412
245 E>K No ClinGen
Ensembl
CA362375238
rs1365346524
245 E>V No ClinGen
gnomAD
CA3585041
rs751293126
246 Q>E No ClinGen
ExAC
gnomAD
rs146175373
CA3585040
247 E>G No ClinGen
ESP
ExAC
gnomAD
rs749923024
CA3585038
249 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA3585036
rs200707924
250 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1479512527
CA362375180
251 P>L No ClinGen
gnomAD
rs747842313
CA132892244
251 P>S No ClinGen
TOPMed
gnomAD
CA3585034
rs768526031
254 K>R No ClinGen
ExAC
gnomAD
CA3585033
rs760338178
255 R>C No ClinGen
ExAC
gnomAD
rs775735135
CA3585032
255 R>H No ClinGen
ExAC
gnomAD
rs746011550
CA3585030
256 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA362375111
rs1289634533
258 P>L No ClinGen
TOPMed
CA3585029
rs778947112
258 P>T No ClinGen
ExAC
CA3585027
rs139780256
259 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362375088
rs1302857325
261 L>F No ClinGen
gnomAD
CA3585023
rs181004515
262 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA362375057
rs1318216671
264 C>S No ClinGen
gnomAD
rs758121960
CA3585022
266 S>L No ClinGen
ExAC
gnomAD
rs1000039111
CA132892067
267 R>Q No ClinGen
TOPMed
gnomAD
rs748590587
CA3585007
267 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA132892060
rs901158764
268 E>* No ClinGen
gnomAD
CA362375003
rs901158764
268 E>Q No ClinGen
gnomAD
CA3585003
rs745544108
270 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA3585002
rs778379292
271 R>W No ClinGen
ExAC
gnomAD
rs1581807260
CA362374957
273 T>P No ClinGen
Ensembl
CA362374942
rs200122668
274 H>P No ClinGen
TOPMed
gnomAD
CA132892016
rs200122668
274 H>R No ClinGen
TOPMed
gnomAD
rs1271915654
CA362374933
275 G>D No ClinGen
gnomAD
CA3585001
rs756840368
275 G>S No ClinGen
ExAC
gnomAD
CA132892012
rs568464531
277 L>V No ClinGen
1000Genomes
TOPMed
CA3585000
rs753251952
281 C>Y No ClinGen
ExAC
gnomAD
COSM1066414
CA3584999
rs764156386
282 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs756029240
CA3584998
282 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA362374856
rs1313680693
283 L>P No ClinGen
gnomAD
rs1581807179
CA362374849
284 L>P No ClinGen
Ensembl
rs1263166065
CA362374831
286 E>Q No ClinGen
TOPMed
rs767306529
CA3584996
287 D>V No ClinGen
ExAC
gnomAD
CA3584995
rs759290290
288 S>G No ClinGen
ExAC
gnomAD
rs763133277
CA3584992
293 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3584991
rs773162771
293 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA362374752
rs1187779694
294 C>F No ClinGen
gnomAD
rs748680511
CA3584989
295 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3584988
rs777236551
296 L>F No ClinGen
ExAC
gnomAD
rs778667883
CA3584985
298 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA3584986
rs778667883
298 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1561733539
CA362374731
298 I>V No ClinGen
Ensembl
rs1408427651
CA362374710
301 M>T No ClinGen
TOPMed
gnomAD
rs888992244
CA132891902
302 S>F No ClinGen
Ensembl
rs141982967
CA3584983
303 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3584982
rs141982967
303 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1238582918
CA362374673
306 Q>H No ClinGen
gnomAD
CA132891889
rs996454252
307 M>R No ClinGen
TOPMed
gnomAD
rs777158421
CA3584981
308 E>D No ClinGen
ExAC
gnomAD
CA132891862
rs371035635
309 T>I No ClinGen
ESP
TOPMed
gnomAD
rs1581807013
CA362374657
309 T>P No ClinGen
Ensembl
CA132891855
rs899399494
311 R>* No ClinGen
TOPMed
gnomAD
COSM3429318
rs1050311907
CA132891846
311 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs377107791
CA362374611
312 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755552331
CA3584980
312 H>Y No ClinGen
ExAC
gnomAD
CA3584940
rs768156226
313 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs780667117
CA3584942
313 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3584941
rs780667117
313 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs780003390
CA3584938
316 M>V No ClinGen
ExAC
rs758175653
CA362374575
318 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs758175653
CA3584937
318 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3584935
rs779344903
322 G>E No ClinGen
ExAC
gnomAD
rs1487823188
CA362374546
323 R>C No ClinGen
TOPMed
gnomAD
rs1248764875
CA362374545
323 R>H No ClinGen
TOPMed
gnomAD
CA362374508
rs1581805799
328 L>R No ClinGen
Ensembl
rs1335035111
CA362374505
329 Q>* No ClinGen
gnomAD
CA362374495
rs1267127828
330 K>E No ClinGen
gnomAD
rs1307172822
CA362374460
332 M>I No ClinGen
gnomAD
rs1226241789
CA362374471
332 M>V No ClinGen
gnomAD
RCV001008395
rs1581805747
336 D>missing No ClinVar
dbSNP
rs764270601
CA3584931
337 I>T No ClinGen
ExAC
gnomAD
CA362374419
rs1218515094
337 I>V No ClinGen
gnomAD
rs148384288
CA362374404
338 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148384288
CA3584929
338 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148384288
CA3584930
338 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759862062
CA3584927
339 R>C No ClinGen
ExAC
TOPMed
gnomAD
RCV000501123
CA3584926
rs774698335
RCV002264947
339 R>H No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1184919983
CA362374388
340 Y>F No ClinGen
TOPMed
rs1459080623
CA362374366
342 A>V No ClinGen
gnomAD
rs370129260
CA3584921
345 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775327364
CA3584920
349 M>K No ClinGen
ExAC
gnomAD
CA362374299
rs1383184862
350 I>L No ClinGen
TOPMed
rs1581805617
CA362374292
350 I>T No ClinGen
Ensembl
CA362374288
rs1246615905
351 D>N No ClinGen
gnomAD
CA3584917
rs778864620
355 E>K No ClinGen
ExAC
gnomAD
CA132890981
rs778864620
355 E>Q No ClinGen
ExAC
gnomAD
rs1260731752
CA362374234
356 G>S No ClinGen
gnomAD
CA362374192
rs1284223764
360 T>I No ClinGen
TOPMed
gnomAD
CA132890938
rs267600572
363 S>Y No ClinGen
Ensembl
CA3584913
rs756198515
366 K>T No ClinGen
ExAC
gnomAD
rs1490086789
CA362374075
368 Q>* No ClinGen
TOPMed
CA3584879
rs747672157
369 R>* No ClinGen
ExAC
TOPMed
gnomAD
RCV000502075
RCV001770380
CA3584878
rs747672157
369 R>G No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs773047033
CA132890623
370 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1264711183
CA362374045
371 T>S No ClinGen
gnomAD
CA3584876
rs769417886
371 T>S No ClinGen
ExAC
gnomAD
rs200003905
CA132890614
373 L>I No ClinGen
Ensembl
rs144057590
CA3584874
381 K>* No ClinGen
ESP
ExAC
gnomAD
rs1408564822
CA362373909
385 F>S No ClinGen
TOPMed
rs774143705
CA132890575
392 K>N No ClinGen
Ensembl
rs1371336249
CA362373834
393 P>A No ClinGen
TOPMed
CA362373828
rs1455997810
393 P>L No ClinGen
gnomAD
CA362373793
rs1321675449
398 V>M No ClinGen
TOPMed
gnomAD
rs1561732025
CA362373778
400 R>H No ClinGen
Ensembl
CA3584867
rs758885853
401 A>T No ClinGen
ExAC
gnomAD
rs1337445434
CA362373767
402 G>E No ClinGen
TOPMed
rs781544959
CA132890543
404 A>G No ClinGen
Ensembl
CA362373713
rs1228057039
409 I>T No ClinGen
gnomAD
CA3584862
rs752416266
409 I>V No ClinGen
ExAC
gnomAD
CA362373699
rs1290351850
410 Q>H No ClinGen
gnomAD
CA362373702
rs1275110923
410 Q>L No ClinGen
TOPMed
CA3584832
rs775645581
412 V>A No ClinGen
ExAC
CA362373641
rs775645581
412 V>G No ClinGen
ExAC
CA3584833
rs367653265
412 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3584830
rs772162239
413 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs749721635
CA3584826
422 V>M No ClinGen
ExAC
gnomAD
rs1581804278
CA362373540
423 Y>S No ClinGen
Ensembl
rs1323392935
CA362373522
425 L>H No ClinGen
TOPMed
RCV000627551
rs1554110980
426 E>missing No ClinVar
dbSNP
rs376656648
CA132890169
426 E>K No ClinGen
ESP
TOPMed
CA362373497
rs945210248
427 C>F No ClinGen
gnomAD
CA132890164
rs945210248
427 C>Y No ClinGen
gnomAD
rs1187303932
CA362373476
430 K>E No ClinGen
gnomAD
CA3584822
rs757978164
433 P>S No ClinGen
ExAC
gnomAD
CA3584820
rs765273800
434 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1458994357
CA362373406
435 V>I No ClinGen
TOPMed
CA3584794
rs759692436
437 I>T No ClinGen
ExAC
gnomAD
CA3584793
rs751738235
439 A>V No ClinGen
ExAC
gnomAD
CA3584792
rs766401102
440 E>D No ClinGen
ExAC
gnomAD
CA3584791
rs763081149
441 K>E No ClinGen
ExAC
gnomAD
rs1296093002
CA362373316
444 D>V No ClinGen
TOPMed
rs1234794202
CA362373321
444 D>Y No ClinGen
gnomAD
rs1287227574
CA362373311
445 V>M No ClinGen
TOPMed
gnomAD
CA362373282
rs1375453537
448 I>V No ClinGen
TOPMed
gnomAD
CA3584784
rs778575920
457 V>I No ClinGen
ExAC
gnomAD
CA362373196
rs778575920
457 V>L No ClinGen
ExAC
gnomAD
rs777752482
CA3584781
460 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA362373003
rs1329727523
471 R>W No ClinGen
TOPMed
RCV001256175
RCV001751523
CA3584739
rs200307685
479 R>Q No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA3584740
rs768638631
479 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs780011110
CA3584738
481 G>S No ClinGen
ExAC
gnomAD
rs1300267169
CA362372890
482 K>N No ClinGen
gnomAD
rs1394709760
CA362372894
482 K>R No ClinGen
gnomAD
CA3584735
rs746112739
487 V>L No ClinGen
ExAC
gnomAD
CA3584733
rs757449267
491 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA362372772
rs1172483916
495 G>S No ClinGen
TOPMed
CA132889675
rs774057488
501 I>N No ClinGen
Ensembl
CA3584728
rs753078023
504 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1481054471
CA362372672
505 I>V No ClinGen
gnomAD
rs1231734986
CA362372639
507 Y>* No ClinGen
gnomAD
CA362372647
rs1265067440
507 Y>N No ClinGen
gnomAD
rs199756165
CA3584727
510 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs772902682
CA3584725
513 I>T No ClinGen
ExAC
gnomAD
CA132889653
rs1014402897
516 Y>C No ClinGen
TOPMed
rs1191544621
CA362372485
519 R>W No ClinGen
TOPMed
gnomAD
CA3584697
rs774299454
526 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1405173089
CA362372417
527 G>A No ClinGen
gnomAD
rs1581802660
CA362372400
529 T>A No ClinGen
Ensembl
rs749555218
CA3584695
529 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362372397
rs749555218
529 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1275046805
CA362372372
532 A>T No ClinGen
gnomAD
rs1429676926
CA362372355
533 T>I No ClinGen
gnomAD
CA132889539
rs1031559373
534 T>A No ClinGen
TOPMed
rs1382668708
CA362372342
535 F>I No ClinGen
gnomAD
CA3584688
rs755467087
539 A>V No ClinGen
ExAC
gnomAD
rs1581802095
CA362372255
543 S>* No ClinGen
Ensembl
CA3584654
rs140371153
548 L>F No ClinGen
ESP
ExAC
gnomAD
CA132889330
rs113077379
548 L>P No ClinGen
Ensembl
rs1167201781
CA362372142
561 P>A No ClinGen
gnomAD
CA132889311
rs998093581
561 P>L No ClinGen
Ensembl
rs746326361
CA3584649
562 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1176022439
CA362372133
563 L>M No ClinGen
gnomAD
CA362372127
rs1471357257
564 Q>E No ClinGen
gnomAD
CA362372121
rs1233873125
564 Q>H No ClinGen
gnomAD
rs781182074
CA3584648
565 V>L No ClinGen
ExAC
gnomAD
CA3584647
rs781182074
565 V>M No ClinGen
ExAC
gnomAD
rs1467756814
CA362372107
567 H>R No ClinGen
gnomAD
rs747823734
CA3584646
568 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs757180883
CA3584644
569 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA362372085
rs1222072296
570 D>E No ClinGen
gnomAD
rs367918756
CA3584642
575 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1195314927
CA362372007
580 R>C No ClinGen
gnomAD
rs778787490
CA3584618
580 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1312801443
CA362371995
582 C>Y No ClinGen
gnomAD
rs1413539474
CA362371983
584 F>L No ClinGen
gnomAD
CA362371935
rs1395944669
591 R>Q No ClinGen
TOPMed
rs763815974
CA3584615
594 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1167946851
CA362371898
597 K>* No ClinGen
gnomAD
rs1167946851
CA362371896
597 K>Q No ClinGen
gnomAD
rs1187062751
CA362371864
601 M>I No ClinGen
gnomAD
rs1257961807
CA362371832
605 Q>H No ClinGen
gnomAD
CA3584611
rs759638837
609 I>V No ClinGen
ExAC
gnomAD
rs763471166
CA3584608
610 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA3584607
rs773727212
610 G>V No ClinGen
ExAC
gnomAD
rs770220016
CA3584606
611 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3584605
rs746674889
614 Y>C No ClinGen
ExAC
gnomAD
rs771535420
CA3584603
617 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs745374460
CA3584602
620 M>V No ClinGen
ExAC
gnomAD

1 associated diseases with Q9UJV9

[MIM: 616871]: Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF)

A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID
  • A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

5 regional properties for Q9UJV9

Type Name Position InterPro Accession
domain Helicase, C-terminal 407 - 567 IPR001650
domain DEAD/DEAH box helicase domain 205 - 384 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 200 - 411 IPR014001
domain RNA helicase, DEAD-box type, Q motif 181 - 209 IPR014014
domain DDX41, DEAD-box helicase domain 192 - 397 IPR044113

Functions

Description
EC Number 3.6.4.13 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
catalytic step 2 spliceosome A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
spliceosomal complex Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
metal ion binding Binding to a metal ion.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.

4 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population.
mRNA splicing, via spliceosome The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.

16 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9V3C0 abs ATP-dependent RNA helicase abstrakt Drosophila melanogaster (Fruit fly) PR
P38919 EIF4A3 Eukaryotic initiation factor 4A-III Homo sapiens (Human) PR
Q9NQI0 DDX4 Probable ATP-dependent RNA helicase DDX4 Homo sapiens (Human) SS
O15523 DDX3Y ATP-dependent RNA helicase DDX3Y Homo sapiens (Human) SS
O00571 DDX3X ATP-dependent RNA helicase DDX3X Homo sapiens (Human) EV
Q9UHL0 DDX25 ATP-dependent RNA helicase DDX25 Homo sapiens (Human) PR
Q9UMR2 DDX19B ATP-dependent RNA helicase DDX19B Homo sapiens (Human) PR
Q9NUU7 DDX19A ATP-dependent RNA helicase DDX19A Homo sapiens (Human) PR
P17844 DDX5 Probable ATP-dependent RNA helicase DDX5 Homo sapiens (Human) PR
O00148 DDX39A ATP-dependent RNA helicase DDX39A Homo sapiens (Human) PR
Q13838 DDX39B Spliceosome RNA helicase DDX39B Homo sapiens (Human) PR
Q91VN6 Ddx41 Probable ATP-dependent RNA helicase DDX41 Mus musculus (Mouse) PR
Q5Z6G5 Os06g0697200 DEAD-box ATP-dependent RNA helicase 35B Oryza sativa subsp japonica (Rice) PR
Q0E3X4 Os02g0150100 DEAD-box ATP-dependent RNA helicase 35A Oryza sativa subsp japonica (Rice) PR
Q9LU46 RH35 DEAD-box ATP-dependent RNA helicase 35 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SZB4 RH43 Putative DEAD-box ATP-dependent RNA helicase 43 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MEESEPERKR ARTDEVPAGG SRSEAEDEDD EDYVPYVPLR QRRQLLLQKL LQRRRKGAAE
70 80 90 100 110 120
EEQQDSGSEP RGDEDDIPLG PQSNVSLLDQ HQHLKEKAEA RKESAKEKQL KEEEKILESV
130 140 150 160 170 180
AEGRALMSVK EMAKGITYDD PIKTSWTPPR YVLSMSEERH ERVRKKYHIL VEGDGIPPPI
190 200 210 220 230 240
KSFKEMKFPA AILRGLKKKG IHHPTPIQIQ GIPTILSGRD MIGIAFTGSG KTLVFTLPVI
250 260 270 280 290 300
MFCLEQEKRL PFSKREGPYG LIICPSRELA RQTHGILEYY CRLLQEDSSP LLRCALCIGG
310 320 330 340 350 360
MSVKEQMETI RHGVHMMVAT PGRLMDLLQK KMVSLDICRY LALDEADRMI DMGFEGDIRT
370 380 390 400 410 420
IFSYFKGQRQ TLLFSATMPK KIQNFAKSAL VKPVTINVGR AGAASLDVIQ EVEYVKEEAK
430 440 450 460 470 480
MVYLLECLQK TPPPVLIFAE KKADVDAIHE YLLLKGVEAV AIHGGKDQEE RTKAIEAFRE
490 500 510 520 530 540
GKKDVLVATD VASKGLDFPA IQHVINYDMP EEIENYVHRI GRTGRSGNTG IATTFINKAC
550 560 570 580 590 600
DESVLMDLKA LLLEAKQKVP PVLQVLHCGD ESMLDIGGER GCAFCGGLGH RITDCPKLEA
610 620
MQTKQVSNIG RKDYLAHSSM DF