Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8IX18

Entry ID Method Resolution Chain Position Source
AF-Q8IX18-F1 Predicted AlphaFoldDB

384 variants for Q8IX18

Variant ID(s) Position Change Description Diseaes Association Provenance
rs773926655
CA8680369
2 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs745310098
CA8680370
3 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8680371
rs537021962
5 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA400402821
rs940408919
9 G>C No ClinGen
gnomAD
CA292119038
rs940408919
9 G>S No ClinGen
gnomAD
rs1222980416
CA400402827
10 R>K No ClinGen
gnomAD
rs200846551
CA8680373
11 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1282102465
CA400402837
12 P>A No ClinGen
TOPMed
gnomAD
rs143836506
CA8680375
12 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1282102465
CA400402838
12 P>S No ClinGen
TOPMed
gnomAD
CA400402851
rs1489756954
14 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 17 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374800359
CA8680378
18 G>S No ClinGen
ESP
ExAC
gnomAD
CA400402888
rs1470889456
19 E>* No ClinGen
gnomAD
rs750517648
CA8680379
21 S>L No ClinGen
ExAC
CA400402925
rs762935870
23 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs888954549
CA292119071
23 D>V No ClinGen
TOPMed
rs1407960199
CA400402930
24 L>F No ClinGen
gnomAD
rs1407960199
CA400402933
24 L>V No ClinGen
gnomAD
CA400402975
rs1167436332
27 E>D No ClinGen
TOPMed
gnomAD
CA400402965
rs1406309999
27 E>K No ClinGen
gnomAD
CA400403008
rs1308890408
30 S>L No ClinGen
TOPMed
gnomAD
rs1440164378
CA400403025
32 V>A No ClinGen
gnomAD
rs1440164378
CA400403027
32 V>G No ClinGen
gnomAD
rs755438586
CA8680383
33 C>F No ClinGen
ExAC
gnomAD
CA8680382
rs752038735
33 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs755438586
CA400403032
33 C>S No ClinGen
ExAC
gnomAD
CA8680384
rs781559692
34 I>V No ClinGen
ExAC
gnomAD
rs1489714847
CA400403061
36 D>H No ClinGen
TOPMed
CA400403079
rs1304168983
37 R>T No ClinGen
gnomAD
rs759142376
CA292119684
39 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 41 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680404
rs778678371
42 C>G No ClinGen
ExAC
gnomAD
rs1403896897
CA400403380
42 C>Y No ClinGen
gnomAD
TCGA novel 45 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400403446
rs1297977658
47 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1323847826
CA400403470
49 T>A No ClinGen
TOPMed
CA400403490
rs1224730512
50 T>I No ClinGen
TOPMed
gnomAD
rs1054542096
CA292119719
52 T>S No ClinGen
TOPMed
rs1269262884
CA400403529
53 F>L No ClinGen
gnomAD
TCGA novel 54 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400403545
rs1224870930
55 I>V No ClinGen
gnomAD
TCGA novel 56 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779729021
CA8680407
56 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1393080749
CA400403574
57 K>Q No ClinGen
TOPMed
CA400403610
rs1461316255
59 R>K No ClinGen
TOPMed
gnomAD
CA8680408
rs746457998
60 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1445655506
CA400403723
67 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8680410
rs372442650
68 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8680412
rs369693869
70 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 70 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773521950
CA8680413
72 L>F No ClinGen
ExAC
gnomAD
rs559969785
CA8680414
73 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1183430843
CA400403824
75 T>A No ClinGen
TOPMed
TCGA novel 79 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 79 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680415
rs771127203
80 S>N No ClinGen
ExAC
gnomAD
rs774421039
CA8680416
86 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs948789933
CA292119848
91 Y>F No ClinGen
Ensembl
TCGA novel 92 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680445
rs764600219
95 F>V No ClinGen
ExAC
gnomAD
rs776860135
CA8680446
100 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs762231558
CA8680447
103 V>I No ClinGen
ExAC
gnomAD
rs141519169
CA400405532
105 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400405545
rs1179083080
107 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400405601
rs754573837
112 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA8680450
rs754573837
112 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1329025886
CA400405649
116 Q>K No ClinGen
TOPMed
CA8680453
rs150885026
122 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8680452
rs767165924
122 M>V No ClinGen
ExAC
gnomAD
rs1386574596
CA400405727
125 T>A No ClinGen
TOPMed
rs777763519
CA8680455
125 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA400405726
rs1386574596
125 T>P No ClinGen
TOPMed
rs757026229
CA8680457
127 G>R No ClinGen
ExAC
gnomAD
rs1310702257
CA400405747
128 S>C No ClinGen
TOPMed
gnomAD
CA8680458
rs779149837
129 K>I No ClinGen
ExAC
gnomAD
CA8680460
rs772237931
130 V>A No ClinGen
ExAC
gnomAD
CA8680459
rs746124350
130 V>I No ClinGen
ExAC
gnomAD
rs775441974
CA8680461
131 G>R No ClinGen
ExAC
TCGA novel 138 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777179956
CA8680464
139 C>Y No ClinGen
ExAC
gnomAD
CA400405908
rs1248095512
141 S>T No ClinGen
gnomAD
rs922242973
CA292122694
142 K>E No ClinGen
TOPMed
gnomAD
CA400406012
rs1486777882
143 E>K No ClinGen
TOPMed
CA292124354
rs139401056
145 A>E No ClinGen
ESP
CA8680478
rs778705834
145 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1216496001
CA400406049
146 I>V No ClinGen
gnomAD
rs1306957525
CA400406101
149 M>I No ClinGen
gnomAD
rs1462548564
CA400406167
156 K>R No ClinGen
gnomAD
CA400406216
rs1201709197
163 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 166 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305641106
CA400406236
166 K>R No ClinGen
TOPMed
CA8680483
rs397843095
168 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA8680484
rs781588633
170 I>T No ClinGen
ExAC
TOPMed
rs925270330
CA292124393
176 H>R No ClinGen
TOPMed
TCGA novel 179 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA292124599
rs796835899
183 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1402789874
CA400406611
185 L>F No ClinGen
gnomAD
rs1315689411
CA400406622
186 F>C No ClinGen
gnomAD
CA8680509
rs771298646
186 F>L No ClinGen
ExAC
TOPMed
CA8680511
rs375856901
188 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 189 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768140192
CA8680512
195 E>D No ClinGen
ExAC
gnomAD
rs1305225341
CA400406757
197 S>A No ClinGen
gnomAD
rs2523371
COSM3403066
CA8680515
198 P>A central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1260703533
CA400406793
200 R>K No ClinGen
gnomAD
CA400406829
rs1374056579
203 H>D No ClinGen
gnomAD
rs184751983
CA8680516
203 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8680517
rs762694128
206 V>L No ClinGen
ExAC
gnomAD
CA400406868
rs762694128
206 V>M No ClinGen
ExAC
gnomAD
rs1222720870
CA400406887
208 V>G No ClinGen
gnomAD
rs139789772
CA8680518
208 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1280247401
CA400406892
209 M>T No ClinGen
TOPMed
TCGA novel 211 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1204842858
CA400406911
212 T>S No ClinGen
TOPMed
gnomAD
rs751262139
CA8680519
213 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA292124630
rs1000425024
216 A>G No ClinGen
TOPMed
gnomAD
CA292124632
rs1000425024
216 A>V No ClinGen
TOPMed
gnomAD
rs1421689004
CA400406986
218 L>F No ClinGen
TOPMed
rs752883417
CA8680522
218 L>P No ClinGen
ExAC
gnomAD
rs1445664156
CA400407005
220 A>T No ClinGen
gnomAD
rs1364009731
CA400407066
225 C>Y No ClinGen
gnomAD
CA400407074
rs749845728
226 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1329549961
CA400407078
226 P>R No ClinGen
gnomAD
CA8680525
rs749845728
226 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs779351905
CA8680527
231 P>S No ClinGen
ExAC
gnomAD
rs779351905
CA400407126
231 P>T No ClinGen
ExAC
gnomAD
TCGA novel 233 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375836842
CA627144966
234 L>* No ClinGen
gnomAD
rs1598143214
CA400407193
236 P>L No ClinGen
Ensembl
rs1230644744
CA400407196
237 V>F No ClinGen
TOPMed
TCGA novel 243 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400407276
rs1316698702
243 N>S No ClinGen
gnomAD
rs1273043297
CA400407300
245 I>T No ClinGen
gnomAD
CA8680529
rs768417749
245 I>V No ClinGen
ExAC
gnomAD
rs1178628984
CA400407326
248 R>G No ClinGen
TOPMed
rs776249309
CA400407329
248 R>P No ClinGen
ExAC
gnomAD
CA8680530
rs776249309
248 R>Q No ClinGen
ExAC
gnomAD
rs769259657
CA8680532
251 E>A No ClinGen
ExAC
gnomAD
rs1275446854
CA400407368
251 E>D No ClinGen
TOPMed
rs772666485
CA8680533
254 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8680535
rs766169136
255 Y>C No ClinGen
ExAC
gnomAD
CA400407436
rs1472559220
258 A>T No ClinGen
gnomAD
rs774201074
CA8680536
258 A>V No ClinGen
ExAC
gnomAD
rs1373875506
CA400407591
266 I>V No ClinGen
gnomAD
CA400407644
rs1358191087
269 N>K No ClinGen
TOPMed
rs973959557
CA292124788
278 F>Y No ClinGen
TOPMed
rs1303173249
CA400408331
286 E>D No ClinGen
TOPMed
rs774132500
CA8680558
294 Q>R No ClinGen
ExAC
gnomAD
rs1417430250
CA400408474
295 M>K No ClinGen
gnomAD
rs1386886990
CA400408468
295 M>V No ClinGen
gnomAD
rs1297234973
CA400408503
296 A>V No ClinGen
gnomAD
CA400408549
rs1345560072
299 V>I No ClinGen
gnomAD
rs1331102900
CA400408588
301 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1299804475
CA400408582
301 Y>D No ClinGen
TOPMed
gnomAD
CA8680559
rs759414152
302 D>E No ClinGen
ExAC
gnomAD
CA400408674
rs1271253165
305 V>I No ClinGen
TOPMed
gnomAD
CA400408745
rs1349009559
308 T>I No ClinGen
gnomAD
rs2523376
CA292125120
309 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA400408767
rs1358090474
310 L>V No ClinGen
TOPMed
CA292125133
rs546867586
311 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1182466887
CA400408988
318 C>W No ClinGen
gnomAD
rs761789387
CA8680565
319 Y>C No ClinGen
ExAC
rs1598145273
CA400409016
320 G>* No ClinGen
Ensembl
CA8680566
rs765826060
320 G>E No ClinGen
ExAC
gnomAD
rs758865205
CA8680568
322 M>V No ClinGen
ExAC
gnomAD
rs371749406
CA8680627
326 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371749406
CA8680626
326 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400409442
rs1416896861
327 Q>R No ClinGen
TOPMed
rs1250451565
CA400409454
328 R>K No ClinGen
TOPMed
CA400409474
rs1320553273
329 R>S No ClinGen
gnomAD
rs1157802165
CA400409493
331 F>V No ClinGen
gnomAD
CA400409520
rs767998768
333 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs775781471
CA8680629
333 P>L No ClinGen
ExAC
gnomAD
CA8680628
rs767998768
333 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1318395244
CA400409534
334 P>S No ClinGen
gnomAD
rs750074222
CA8680632
335 P>R No ClinGen
ExAC
gnomAD
rs1209757854
CA400409553
336 P>T No ClinGen
TOPMed
rs1168499599
CA400409564
337 G>A No ClinGen
gnomAD
CA8680633
rs138939353
338 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8680634
rs766012505
343 I>V No ClinGen
ExAC
gnomAD
rs1399233957
CA400409622
346 N>S No ClinGen
TOPMed
gnomAD
rs751058166
CA8680635
348 S>Y No ClinGen
ExAC
gnomAD
CA400409649
rs1335765079
350 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8680637
rs574737069
354 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400409680
rs1343700143
355 D>V No ClinGen
TOPMed
TCGA novel 356 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 356 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680638
rs752493564
357 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA400410002
rs1346624765
359 Y>* No ClinGen
gnomAD
CA400410003
rs1222735980
360 V>M No ClinGen
TOPMed
rs1310832495
CA400410023
363 G>S No ClinGen
TOPMed
TCGA novel 366 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 366 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752649524
CA8680657
366 V>M No ClinGen
ExAC
gnomAD
CA400410095
rs1487341276
373 P>T No ClinGen
gnomAD
rs755954717
CA8680658
374 R>I No ClinGen
ExAC
gnomAD
CA400410121
rs1224599456
377 L>V No ClinGen
gnomAD
rs1288923271
CA400410130
378 D>A No ClinGen
TOPMed
rs777557974
CA8680659
382 V>M No ClinGen
ExAC
gnomAD
CA400410173
rs1411529649
385 I>V No ClinGen
TOPMed
CA400410183
rs1200953377
386 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1250408090
CA400410327
406 F>V No ClinGen
TOPMed
CA400410462
rs1213236935
424 P>T No ClinGen
TOPMed
rs572053476
CA292126550
426 I>L No ClinGen
1000Genomes
CA400410536
rs1598150911
435 V>I No ClinGen
Ensembl
CA400410669
rs1332580983
452 L>S No ClinGen
TOPMed
rs1444948876
CA400410683
454 P>A No ClinGen
TOPMed
CA8680678
rs757021826
460 I>T No ClinGen
ExAC
gnomAD
CA400410755
rs1199223011
465 K>E No ClinGen
gnomAD
rs1598156799
CA400410763
466 Q>K No ClinGen
Ensembl
rs1456304506
CA400410789
469 Q>R No ClinGen
TOPMed
gnomAD
rs1177596134
CA400410805
471 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400410816
rs1256486682
473 I>V No ClinGen
gnomAD
CA400410828
rs1444032361
474 D>E No ClinGen
TOPMed
CA400410822
rs1161765432
474 D>N No ClinGen
TOPMed
CA400410832
rs1425036141
475 R>K No ClinGen
gnomAD
CA8680708
rs766509574
478 H>R No ClinGen
ExAC
rs1361217454
CA400411134
478 H>Y No ClinGen
TOPMed
gnomAD
rs1401983648
CA400411154
479 V>A No ClinGen
TOPMed
gnomAD
rs1401983648
CA400411152
479 V>D No ClinGen
TOPMed
gnomAD
CA8680709
rs751720073
482 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA400411248
rs1451471225
487 V>M No ClinGen
TOPMed
TCGA novel 488 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400411255
rs1285408687
488 E>Q No ClinGen
TOPMed
CA400411271
rs1301657350
490 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400411273
rs1313769565
490 P>L No ClinGen
gnomAD
rs781774662
CA8680711
494 H>R No ClinGen
ExAC
gnomAD
TCGA novel 497 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778203917
CA8680714
498 A>P No ClinGen
ExAC
gnomAD
rs778203917
CA400411366
498 A>T No ClinGen
ExAC
gnomAD
CA8680715
rs749609122
499 V>I No ClinGen
ExAC
rs1248117371
CA400411393
500 I>R No ClinGen
gnomAD
CA8680716
rs562694135
504 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs774979768
CA8680717
506 D>H No ClinGen
ExAC
gnomAD
CA400411547
rs1224336136
512 L>F No ClinGen
TOPMed
rs1369896411
CA400411563
513 P>L No ClinGen
TOPMed
rs768181823
CA8680719
515 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8680720
rs776066618
515 A>V No ClinGen
ExAC
gnomAD
rs769555475
CA8680723
517 M>I No ClinGen
ExAC
gnomAD
CA8680721
rs761755655
517 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1267686357
CA400411635
519 S>C No ClinGen
gnomAD
CA400411633
rs1296355691
519 S>P No ClinGen
gnomAD
rs1598159773
CA400411697
523 V>G No ClinGen
Ensembl
CA400411691
rs1429887231
523 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs766674022
CA8680726
525 I>V No ClinGen
ExAC
gnomAD
rs1333169805
CA400411744
528 V>A No ClinGen
TOPMed
rs1200886600
CA400411730
528 V>F No ClinGen
gnomAD
CA8680743
rs773001666
530 P>L No ClinGen
ExAC
gnomAD
CA400411760
rs1166703461
531 E>Q No ClinGen
gnomAD
rs1444280918
CA400411780
533 Q>R No ClinGen
TOPMed
rs1598174082
CA400411821
539 R>G No ClinGen
Ensembl
CA292131954
rs932638334
541 R>* No ClinGen
TOPMed
rs1205611360
CA400411838
541 R>Q No ClinGen
TOPMed
TCGA novel 542 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762847650
CA8680744
542 E>G No ClinGen
ExAC
gnomAD
CA8680746
rs774240093
545 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8680748
rs767847178
551 N>S No ClinGen
ExAC
gnomAD
rs376151196
CA8680750
557 A>V No ClinGen
ESP
ExAC
gnomAD
rs1046601854
CA292132143
567 G>E No ClinGen
TOPMed
CA8680772
rs762234654
570 A>G No ClinGen
ExAC
rs776713218
CA8680771
570 A>S No ClinGen
ExAC
gnomAD
TCGA novel 572 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680774
rs750849571
575 K>T No ClinGen
ExAC
gnomAD
CA400412410
rs1165876568
579 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1395532928
CA400412417
580 W>R No ClinGen
TOPMed
gnomAD
TCGA novel 581 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400412461
rs1335825273
586 A>T No ClinGen
gnomAD
rs200066612
CA292132187
COSM982068
588 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs200066612
CA8680777
588 R>G No ClinGen
ExAC
gnomAD
CA8680778
rs755745082
588 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA400412477
rs755745082
588 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs748825947
CA8680780
592 Q>* No ClinGen
ExAC
gnomAD
rs748825947
CA400412499
592 Q>E No ClinGen
ExAC
gnomAD
rs1346203679
CA400412505
593 L>I No ClinGen
gnomAD
TCGA novel 593 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680782
rs368453009
594 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745697239
CA8680783
594 R>Q No ClinGen
ExAC
gnomAD
CA292132215
rs899098144
595 E>K No ClinGen
TOPMed
rs1265441121
CA400412564
602 Q>* No ClinGen
gnomAD
rs1265441121
CA400412563
602 Q>E No ClinGen
gnomAD
CA400412650
rs1328070464
603 Q>R No ClinGen
TOPMed
gnomAD
CA292133913
rs979431618
613 G>A No ClinGen
Ensembl
CA292133921
rs369046977
614 P>L No ClinGen
ESP
ExAC
gnomAD
rs369046977
CA8680812
614 P>R No ClinGen
ESP
ExAC
gnomAD
rs925288813
CA292133929
615 K>E No ClinGen
Ensembl
rs774634392
CA8680813
616 H>L No ClinGen
ExAC
gnomAD
CA400412837
rs1239696455
617 E>G No ClinGen
gnomAD
rs759920447
CA8680814
617 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA400412841
rs1180384917
618 V>I No ClinGen
gnomAD
CA400412853
rs1181373006
620 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA400412854
rs1368558325
COSM191919
620 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1459859609
CA400412873
623 L>V No ClinGen
gnomAD
rs763694059
CA8680815
624 C>Y No ClinGen
ExAC
gnomAD
rs1472936136
CA400412889
625 A>G No ClinGen
TOPMed
rs1466521808
CA400412895
626 G>A No ClinGen
gnomAD
CA400412901
rs1567900203
627 Y>C No ClinGen
Ensembl
CA8680818
rs764848896
629 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs991055636
CA292133955
633 R>G No ClinGen
Ensembl
TCGA novel 636 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA292105829
rs1049932971
639 T>M No ClinGen
TOPMed
rs1303693959
CA400413992
639 T>P No ClinGen
TOPMed
gnomAD
CA400413994
rs1303693959
639 T>S No ClinGen
TOPMed
gnomAD
rs539150022
CA8680832
643 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8680833
rs772508336
646 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8680834
rs753352443
646 R>H No ClinGen
ExAC
gnomAD
rs1265614378
CA400414045
647 G>R No ClinGen
TOPMed
gnomAD
CA400414072
rs1213804101
651 H>D No ClinGen
TOPMed
CA8680836
rs148552104
652 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 653 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1226209145
CA400414092
653 H>Q No ClinGen
gnomAD
rs766271992
CA8680839
657 A>T No ClinGen
ExAC
gnomAD
rs1256222916
CA400414115
657 A>V No ClinGen
gnomAD
rs1027915064
CA292106174
663 T>S No ClinGen
Ensembl
rs759522523
CA8680858
669 I>V No ClinGen
ExAC
gnomAD
CA8680859
rs767352983
672 E>D No ClinGen
ExAC
gnomAD
CA400414239
rs1164649184
673 V>L No ClinGen
gnomAD
CA400414248
rs1213394835
674 L>W No ClinGen
TOPMed
rs752547846
CA8680860
676 T>N No ClinGen
ExAC
gnomAD
CA400414286
rs1343292001
680 Y>C No ClinGen
gnomAD
rs1372964175
CA400414293
681 A>G No ClinGen
gnomAD
rs754081507
CA8680863
COSM982078
681 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs865960853
CA292106219
684 V>G No ClinGen
Ensembl
rs369320452
CA8680864
684 V>I No ClinGen
ESP
ExAC
gnomAD
TCGA novel 686 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745927262
CA8680866
687 I>M No ClinGen
ExAC
gnomAD
CA8680867
rs770146463
688 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs770146463
CA400414334
688 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM191921
CA8680868
rs780681873
688 R>H pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs559169845
CA400414344
689 Y>* No ClinGen
gnomAD
TCGA novel 689 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400414349
rs1467456682
690 E>G No ClinGen
gnomAD
CA400414347
rs1275408603
690 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8680869
rs747421171
692 V>A No ClinGen
ExAC
gnomAD
rs777091523
CA8680871
697 P>S No ClinGen
ExAC
gnomAD
rs1407381086
CA400414435
702 F>Y No ClinGen
gnomAD
CA400414448
rs1451915328
704 A>T No ClinGen
gnomAD
rs1567904447
CA400414458
705 H>R No ClinGen
Ensembl
rs1418400037
CA400414456
705 H>Y No ClinGen
gnomAD
CA400414507
rs1324974939
712 R>Q No ClinGen
TOPMed
gnomAD
rs141945224
COSM982084
CA8680876
713 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA292106307
rs374274847
713 R>H No ClinGen
ExAC
gnomAD
rs374274847
CA8680877
713 R>P No ClinGen
ExAC
gnomAD
rs529784000
CA292106324
719 A>G No ClinGen
Ensembl
CA400414575
rs879331825
722 R>S No ClinGen
TOPMed
rs1229374111
CA400414578
723 W>R No ClinGen
gnomAD
CA8680879
rs763889511
726 K>* No ClinGen
ExAC
rs146141913
CA8680880
727 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757563128
CA8680881
731 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1213388102
CA400414655
734 D>N No ClinGen
gnomAD
rs1443346410
CA400414681
736 I>V No ClinGen
gnomAD
rs544885439
CA400414690
737 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8680912
rs544885439
737 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8680915
rs372012056
739 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 739 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8680916
rs746504742
740 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs768625906
CA8680917
742 K>E No ClinGen
ExAC
gnomAD
TCGA novel 742 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 745 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400414785
rs1250681055
750 D>G No ClinGen
gnomAD
rs769501766
CA8680920
752 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400414805
rs1181838221
753 I>K No ClinGen
gnomAD
CA400414806
rs1181838221
753 I>T No ClinGen
gnomAD
CA400414813
rs1329474534
754 S>C No ClinGen
gnomAD
CA8680923
rs766704902
757 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8680922
rs763276276
757 R>W No ClinGen
ExAC
gnomAD
rs751747695
CA8680924
758 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA8680925
rs759667190
759 R>C No ClinGen
ExAC
gnomAD
CA400414851
rs1567906912
761 L>F No ClinGen
Ensembl
TCGA novel 764 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368343588
CA8680926
764 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8680927
rs753164187
765 Q>L No ClinGen
ExAC
CA400414890
rs1392206922
766 Q>R No ClinGen
gnomAD
CA8680929
rs764369751
768 T>N No ClinGen
ExAC
gnomAD
rs1260727438
CA400414914
770 D>H No ClinGen
gnomAD
rs1567907018
CA400414918
770 D>V No ClinGen
Ensembl
rs1326263616
CA400414923
771 H>Y No ClinGen
gnomAD
CA400414930
rs1416402005
772 S>G No ClinGen
Ensembl
rs1413933429
CA400414943
773 D>E No ClinGen
TOPMed
rs964476548
CA292107479
773 D>H No ClinGen
Ensembl
rs143165826
CA8680931
775 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 775 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA292107483
rs922991360
777 E>G No ClinGen
Ensembl
rs954769716
CA292107484
779 G>V No ClinGen
gnomAD

No associated diseases with Q8IX18

6 regional properties for Q8IX18

Type Name Position InterPro Accession
domain Helicase, C-terminal 263 - 442 IPR001650
conserved_site DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site 168 - 177 IPR002464
domain Helicase-associated domain 462 - 557 IPR007502
domain DEAD/DEAH box helicase domain 60 - 216 IPR011545
domain DEAD-box helicase, OB fold 619 - 698 IPR011709
domain Helicase superfamily 1/2, ATP-binding domain 47 - 240 IPR014001

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

4 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.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43329 hrpA ATP-dependent RNA helicase HrpA Escherichia coli (strain K12) PR
O60231 DHX16 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 Homo sapiens (Human) PR
Q6P158 DHX57 Putative ATP-dependent RNA helicase DHX57 Homo sapiens (Human) PR
Q7L7V1 DHX32 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 Homo sapiens (Human) PR
O43143 DHX15 ATP-dependent RNA helicase DHX15 Homo sapiens (Human) PR
Q9H2U1 DHX36 ATP-dependent DNA/RNA helicase DHX36 Homo sapiens (Human) PR
Q8IY37 DHX37 Probable ATP-dependent RNA helicase DHX37 Homo sapiens (Human) PR
Q92620 DHX38 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 Homo sapiens (Human) PR
Q9BKQ8 ddx-35 Probable ATP-dependent RNA helicase DHX35 homolog Caenorhabditis elegans PR
10 20 30 40 50 60
MSRFPAVAGR APRRQEEGER SRDLQEERLS AVCIADREEK GCTSQEGGTT PTFPIQKQRK
70 80 90 100 110 120
KIIQAVRDNS FLIVTGNTGS GKTTQLPKYL YEAGFSQHGM IGVTQPRKVA AISVAQRVAE
130 140 150 160 170 180
EMKCTLGSKV GYQVRFDDCS SKETAIKYMT DGCLLKHILG DPNLTKFSVI ILDEAHERTL
190 200 210 220 230 240
TTDILFGLLK KLFQEKSPNR KEHLKVVVMS ATMELAKLSA FFGNCPIFDI PGRLYPVREK
250 260 270 280 290 300
FCNLIGPRDR ENTAYIQAIV KVTMDIHLNE MAGDILVFLT GQFEIEKSCE LLFQMAESVD
310 320 330 340 350 360
YDYDVQDTTL DGLLILPCYG SMTTDQQRRI FLPPPPGIRK CVISTNISAT SLTIDGIRYV
370 380 390 400 410 420
VDGGFVKQLN HNPRLGLDIL EVVPISKSEA LQRSGRAGRT SSGKCFRIYS KDFWNQCMPD
430 440 450 460 470 480
HVIPEIKRTS LTSVVLTLKC LAIHDVIRFP YLDPPNERLI LEALKQLYQC DAIDRSGHVT
490 500 510 520 530 540
RLGLSMVEFP LPPHLTCAVI KAASLDCEDL LLPIAAMLSV ENVFIRPVDP EYQKEAEQRH
550 560 570 580 590 600
RELAAKAGGF NDFATLAVIF EQCKSSGAPA SWCQKHWIHW RCLFSAFRVE AQLRELIRKL
610 620 630 640 650 660
KQQSDFPKET FEGPKHEVLR RCLCAGYFKN VARRSVGRTF CTMDGRGSPV HIHPSSALHE
670 680 690 700 710 720
QETKLEWIIF HEVLVTTKVY ARIVCPIRYE WVRDLLPKLH EFNAHDLSSV ARREVREDAR
730 740 750 760 770
RRWTNKENVK QLKDGISKDV LKKMQRRNDD KSISDARARF LERKQQRTQD HSDTRKETG