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

5 structures for Q96FV9

Entry ID Method Resolution Chain Position Source
1WXP NMR - A 561-657 PDB
7APK EM 330 A A/I/a/i 2-657 PDB
7ZNK EM 390 A A/I/a/i 1-657 PDB
7ZNL EM 345 A A/I/a/i 1-657 PDB
AF-Q96FV9-F1 Predicted AlphaFoldDB

383 variants for Q96FV9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs751229459
CA401653790
2 S>A No ClinGen
ExAC
gnomAD
rs763798964
CA8866632
2 S>F No ClinGen
ExAC
gnomAD
rs751229459
CA8866633
2 S>T No ClinGen
ExAC
gnomAD
rs759934263
CA401653783
3 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs759934263
CA8866631
3 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759934263
CA401653784
3 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA295363378
rs377273560
4 T>A No ClinGen
ESP
TOPMed
CA401653778
rs1228949025
4 T>M No ClinGen
TOPMed
gnomAD
CA401653782
rs377273560
4 T>P No ClinGen
ESP
TOPMed
rs761201235
CA8866627
5 P>L No ClinGen
ExAC
gnomAD
rs771236334
CA8866628
5 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA401653771
rs1315272526
6 P>A No ClinGen
gnomAD
rs534593142
CA8866626
6 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534593142
CA295363365
6 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534593142
CA401653770
6 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772056461
CA401653768
7 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA401653766
rs1412061837
7 L>P No ClinGen
gnomAD
rs772056461
CA8866625
7 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA401653755
rs779066227
9 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs779066227
CA8866623
9 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 9 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8866621
rs749476495
10 L>F No ClinGen
ExAC
gnomAD
CA8866620
rs755908137
11 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs750401436
CA8866618
11 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA401653741
rs750401436
11 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs755908137
CA8866619
11 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA401653740
rs1256764842
12 E>K No ClinGen
gnomAD
rs567290635
CA8866616
13 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs369145062
CA8866614
15 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369145062
CA295363303
15 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1214242206
CA401653716
16 R>Q No ClinGen
gnomAD
CA8866612
rs752304581
17 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA8866611
rs766732205
18 T>M No ClinGen
ExAC
gnomAD
rs1420787676
CA401653306
19 K>N No ClinGen
gnomAD
rs767729011
CA8866587
20 S>P No ClinGen
ExAC
gnomAD
CA8866586
rs762417829
21 T>I No ClinGen
ExAC
gnomAD
rs1363121476
CA401653251
23 E>G No ClinGen
TOPMed
CA401653242
rs1454594740
24 A>S No ClinGen
TOPMed
gnomAD
rs1255057456
CA401653230
24 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs774656714
CA8866585
25 L>S No ClinGen
ExAC
gnomAD
CA401653193
rs764286658
26 N>K No ClinGen
ExAC
gnomAD
rs763113630
CA8866583
27 N>I No ClinGen
ExAC
gnomAD
CA401653178
rs763113630
27 N>S No ClinGen
ExAC
gnomAD
CA401653185
rs1268872517
27 N>Y No ClinGen
gnomAD
TCGA novel 28 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369266525
CA295361479
28 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 29 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401653087
rs1325536370
32 P>L No ClinGen
TOPMed
rs1315621481
CA401653034
36 T>A No ClinGen
gnomAD
CA401653026
rs1306991741
36 T>S No ClinGen
TOPMed
gnomAD
TCGA novel 37 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393457893
CA401653019
37 F>V No ClinGen
TOPMed
rs775923064
CA8866582
39 Q>H No ClinGen
ExAC
gnomAD
CA401652961
rs1373658274
40 V>A No ClinGen
gnomAD
CA295361469
rs974649860
40 V>L No ClinGen
Ensembl
CA295361459
rs374704085
41 P>L No ClinGen
Ensembl
rs965858807
CA295361463
41 P>S No ClinGen
gnomAD
CA401652939
rs1369855844
42 G>C No ClinGen
gnomAD
CA401652943
rs1369855844
42 G>S No ClinGen
gnomAD
rs1171489023
CA401652893
43 S>R No ClinGen
gnomAD
TCGA novel 44 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401652889
rs1433937819
44 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA401652878
rs1172820776
45 N>K No ClinGen
gnomAD
CA295361346
rs538490417
45 N>S No ClinGen
1000Genomes
TOPMed
gnomAD
CA401652876
rs1426737606
46 E>K No ClinGen
gnomAD
rs746975641 48 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs746975641 49 C>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8866564
rs369918372
49 C>S No ClinGen
ESP
ExAC
TCGA novel 49 C>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765360001
CA8866561
49 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA295361315
rs571166091
50 T>I No ClinGen
1000Genomes
CA295361304
rs376345000
55 F>L No ClinGen
ESP
TOPMed
gnomAD
CA401652804
rs1229196623
56 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760373126
CA8866557
58 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA401652786
rs1232110006
59 L>V No ClinGen
TOPMed
CA401652765
rs1233408716
62 E>K No ClinGen
gnomAD
CA401652755
rs1357282922
63 I>N No ClinGen
gnomAD
rs1567858811
CA401652736
64 I>V No ClinGen
Ensembl
CA8866542
rs367948771
66 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8866541
rs754145701
66 H>Q No ClinGen
ExAC
CA295360641
rs769210811
66 H>Y No ClinGen
Ensembl
rs1250920577
CA401652707
68 S>* No ClinGen
TOPMed
rs1202796912
CA401652709
68 S>A No ClinGen
TOPMed
CA401652702
rs1567858786
69 C>Y No ClinGen
Ensembl
rs1485963871
CA401652697
70 E>K No ClinGen
TOPMed
rs766503377
CA8866540
71 N>D No ClinGen
ExAC
gnomAD
CA8866539
rs760556024
72 V>I No ClinGen
ExAC
gnomAD
rs772965492
CA8866538
74 A>S No ClinGen
ExAC
gnomAD
CA8866537
rs189891584
75 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761747275
CA295360624
77 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA8866536
rs761747275
77 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 77 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8866535
rs774220742
79 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1194429512
CA401652634
80 I>T No ClinGen
gnomAD
CA8866533
rs748747249
80 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1270748074
CA401652624
82 G>R No ClinGen
gnomAD
rs200172012
CA8866531
84 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA401652205
rs1235117996
88 C>S No ClinGen
TOPMed
gnomAD
CA295358559
rs1028033970
89 T>S No ClinGen
Ensembl
CA401652193
rs769308809
90 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8866511
rs769308809
90 A>T Variant assessed as Somatic; 0.0001025 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745519348
CA8866510
92 T>I No ClinGen
ExAC
gnomAD
CA401652164
rs1471178830
93 P>L No ClinGen
TOPMed
rs1376643800
CA401652149
95 V>I No ClinGen
TOPMed
gnomAD
CA401652137
rs1567857398
96 L>F No ClinGen
Ensembl
CA401652123
rs1175916495
98 G>E No ClinGen
gnomAD
rs965150596
CA295358540
105 P>S No ClinGen
Ensembl
TCGA novel 107 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1271500599
CA401651958
112 I>V No ClinGen
TOPMed
rs916035648
CA295358531
113 F>Y No ClinGen
TOPMed
CA401651929
rs772620511
115 F>C No ClinGen
ExAC
gnomAD
rs772620511
CA8866508
115 F>S No ClinGen
ExAC
gnomAD
CA401651922
rs1475434358
116 V>A No ClinGen
gnomAD
TCGA novel 117 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755414662
CA8866505
122 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1263393932
CA401651853
124 K>R No ClinGen
TOPMed
rs866540485
CA295358184
130 S>Y No ClinGen
Ensembl
CA401651781
rs1204724969
131 A>S No ClinGen
TOPMed
rs866320130
CA401651773
132 G>R No ClinGen
gnomAD
rs868645265
CA295358174
132 G>V No ClinGen
Ensembl
rs866320130
CA295358178
132 G>W No ClinGen
gnomAD
CA8866491
rs770675786
135 Y>C No ClinGen
ExAC
gnomAD
CA401651732
rs1189987332
137 L>V No ClinGen
gnomAD
TCGA novel 138 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474078520
CA401651722
138 R>H No ClinGen
gnomAD
CA295358160
rs993702361
140 C>S No ClinGen
TOPMed
gnomAD
CA295357894
rs758285014
146 R>I No ClinGen
Ensembl
CA8866470
rs768962290
148 S>F No ClinGen
ExAC
gnomAD
CA401651627
rs1281964584
149 K>E No ClinGen
TOPMed
rs1377966217
CA401651618
150 S>P No ClinGen
TOPMed
CA8866468
rs745665555
153 T>R No ClinGen
ExAC
gnomAD
CA8866467
rs770267483
154 V>I No ClinGen
ExAC
gnomAD
rs1371339098
CA401651586
155 F>V No ClinGen
gnomAD
rs201162385
CA8866464
158 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8866465
rs781280898
158 R>W No ClinGen
ExAC
gnomAD
CA401651501
rs1197789287
167 F>L No ClinGen
TOPMed
TCGA novel 175 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295355154
rs891429156
178 Q>E No ClinGen
Ensembl
rs867300638
CA295355150
179 S>I No ClinGen
Ensembl
CA401651388
rs1435167473
182 N>S No ClinGen
gnomAD
rs747105570
CA8866444
184 E>G No ClinGen
ExAC
gnomAD
CA401651336
rs1420342503
190 N>Y No ClinGen
gnomAD
rs1188403824
CA401651327
191 T>K No ClinGen
gnomAD
CA8866441
rs748265210
192 N>D No ClinGen
ExAC
gnomAD
CA401651321
rs1263180649
192 N>S No ClinGen
gnomAD
rs1267842369
CA401651312
193 E>A No ClinGen
TOPMed
CA295355120
rs867029873
194 Q>H No ClinGen
Ensembl
CA295355123
rs878879539
194 Q>K No ClinGen
gnomAD
CA295355105
rs866359458
196 S>R No ClinGen
Ensembl
CA401651283
rs1472828942
197 T>S No ClinGen
TOPMed
rs1257357000
CA401651275
199 G>C No ClinGen
TOPMed
gnomAD
rs1230641660
CA401651274
199 G>D No ClinGen
gnomAD
CA401651277
rs1257357000
199 G>S No ClinGen
TOPMed
gnomAD
rs1311304274
CA401651267
200 Q>R No ClinGen
gnomAD
TCGA novel 201 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401651213
rs1475519476
202 H>R No ClinGen
TOPMed
gnomAD
rs1315535615
CA401651203
203 T>A No ClinGen
gnomAD
rs1243699806
CA401651156
206 R>G No ClinGen
TOPMed
gnomAD
CA401651152
rs1357343156
206 R>K No ClinGen
gnomAD
rs1444815594
CA401651115
208 E>G No ClinGen
TOPMed
CA401651088
rs1185105678
210 M>T No ClinGen
TOPMed
CA401651077
rs1374308514
211 D>H No ClinGen
gnomAD
CA8866421
rs773364121
214 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs760717085
CA8866422
214 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 216 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1165816026
CA401651000
216 E>Q No ClinGen
gnomAD
CA401650933
rs1367304344
220 E>G No ClinGen
gnomAD
CA401650905
rs1460407913
222 A>P No ClinGen
TOPMed
rs1296482811
CA401650897
222 A>V No ClinGen
TOPMed
CA8866417
rs768627342
223 P>S No ClinGen
ExAC
gnomAD
CA401650881
rs1273745289
224 T>A No ClinGen
TOPMed
gnomAD
CA401650863
COSM172322
rs1250711792
225 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA401650849
rs1456033317
226 C>F No ClinGen
gnomAD
CA401650279
rs1364352129
228 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 229 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 229 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401650266
rs1265860043
230 I>V No ClinGen
TOPMed
rs1268575439
CA401650222
COSM264029
236 R>* large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs775390511
CA8866397
236 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8866394
rs780980533
252 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 254 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401650055
rs1173878862
258 K>N No ClinGen
TOPMed
gnomAD
CA8866393
rs373006315
259 T>I No ClinGen
ESP
ExAC
gnomAD
CA8866392
rs373006315
259 T>S No ClinGen
ESP
ExAC
gnomAD
CA8866391
rs777449755
262 K>R No ClinGen
ExAC
gnomAD
TCGA novel 265 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs548902228
CA8866375
265 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA8866372
rs771499996
269 A>D No ClinGen
ExAC
gnomAD
CA401649970
rs1286319225
270 V>I No ClinGen
gnomAD
TCGA novel 271 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530768782
CA8866370
273 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8866369
rs756565871
273 S>N No ClinGen
ExAC
gnomAD
rs1487448966
CA401649930
275 K>R No ClinGen
TOPMed
gnomAD
rs1293605333
CA401649914
277 D>V No ClinGen
TOPMed
rs1465656285
CA401649904
278 D>E No ClinGen
gnomAD
TCGA novel 279 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750734146
CA8866368
281 A>G No ClinGen
ExAC
gnomAD
CA401649874
rs1414526722
283 R>K No ClinGen
gnomAD
CA401649857
rs1471695835
285 K>N No ClinGen
gnomAD
TCGA novel 286 M>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140658412
CA8866365
286 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs757874733
CA8866366
286 M>V No ClinGen
ExAC
gnomAD
rs1459105703
CA401649844
287 E>G No ClinGen
gnomAD
CA8866364
rs377620376
288 E>K No ClinGen
ESP
ExAC
gnomAD
rs758539672
CA8866363
290 K>E No ClinGen
ExAC
gnomAD
rs1336092339
CA401649824
290 K>T No ClinGen
gnomAD
CA8866362
rs753031558
292 G>R No ClinGen
ExAC
gnomAD
TCGA novel 293 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295350692
rs986317244
294 E>G No ClinGen
TOPMed
TCGA novel 300 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8866347
rs768218042
309 D>G No ClinGen
ExAC
gnomAD
TCGA novel 312 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1478754847
CA401647827
312 L>V No ClinGen
TOPMed
TCGA novel 313 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1378629176
CA401647803
315 S>N No ClinGen
gnomAD
rs757641974
CA8866344
COSM3388401
318 R>C Variant assessed as Somatic; 0.0 impact. pancreas urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1299185012
CA401647777
319 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA401647776
rs1442306530
319 R>Q No ClinGen
gnomAD
CA401647771
rs1421537132
320 H>Y No ClinGen
TOPMed
rs747576873
CA8866343
322 L>V No ClinGen
ExAC
gnomAD
CA295339396
rs369391941
327 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8866340
rs369391941
327 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 333 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277329442
CA401647601
342 N>S No ClinGen
gnomAD
rs1396446152
CA401647594
343 Y>C No ClinGen
gnomAD
rs1396446152
CA401647593
343 Y>S No ClinGen
gnomAD
rs199869012
CA8866321
344 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374747865
CA295338377
351 L>F No ClinGen
ESP
CA8866319
rs755027192
357 T>A No ClinGen
ExAC
gnomAD
CA401647494
rs1474687858
357 T>I No ClinGen
TOPMed
CA401647448
rs1170893401
361 Y>H No ClinGen
TOPMed
CA401647067
rs1443630671
367 N>K No ClinGen
gnomAD
rs778021280 370 D>M Variant assessed as Somatic; 5.315e-05 impact. [NCI-TCGA] No NCI-TCGA
CA8866300
rs749332430
370 D>N No ClinGen
ExAC
TOPMed
rs1249678965
CA401647026
373 R>G No ClinGen
TOPMed
gnomAD
CA8866297
rs756362305
373 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1414311034
COSM3403476
CA401646991
376 K>E Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1263423968
CA401646975
378 V>I No ClinGen
gnomAD
CA401646946
rs1376818984
380 H>Y No ClinGen
TOPMed
gnomAD
CA8866282
rs201689148
383 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8866281
rs769182418
384 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA295338037
rs865911913
385 E>* No ClinGen
Ensembl
CA8866280
rs376053242
390 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475538109
CA401646828
396 C>G No ClinGen
TOPMed
gnomAD
rs1417446775
CA401646822
397 P>T No ClinGen
gnomAD
TCGA novel 400 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8866253
rs745933882
404 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8866254
rs769928528
404 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA401646742
rs1214281676
405 S>P No ClinGen
TOPMed
gnomAD
CA401646713
rs1175627221
409 P>S No ClinGen
TOPMed
rs890667182
CA295337212
410 T>M No ClinGen
TOPMed
gnomAD
CA8866249
rs200887739
412 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377169666
CA8866248
414 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA295337162
rs947264802
COSM264028
414 R>W Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA401646665
rs1297278231
417 T>P No ClinGen
TOPMed
CA8866247
rs748150928
417 T>R No ClinGen
ExAC
TOPMed
CA8866246
rs778985342
418 A>T No ClinGen
ExAC
gnomAD
rs1455345197
CA401646639
419 P>L No ClinGen
gnomAD
CA401646623
rs1311032627
420 E>D No ClinGen
TOPMed
rs753364989
CA8866244
420 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA401646571
rs1384908220
424 G>E No ClinGen
gnomAD
rs749988119
CA8866241
426 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8866242
rs755820555
426 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA401646538
rs1452736563
427 P>T No ClinGen
gnomAD
CA8866240
rs764502807
428 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs763303870
CA8866239
429 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 430 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 431 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356755845 431 I>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 431 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776017441
CA8866238
435 N>S No ClinGen
ExAC
gnomAD
CA401646304
rs1298624257
436 E>* No ClinGen
gnomAD
CA401646298
rs1421750825
437 E>K No ClinGen
gnomAD
rs1158408949
CA401646228
446 P>L No ClinGen
gnomAD
CA401646210
rs1450363559
449 M>L No ClinGen
TOPMed
rs866623318
CA295336541
450 E>* No ClinGen
Ensembl
TCGA novel 454 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401646161
rs1427825706
455 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 457 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401646042
rs1244441201
459 H>P No ClinGen
gnomAD
CA8866209
rs772400295
460 M>V No ClinGen
ExAC
gnomAD
rs1201294802
CA401646015
461 P>A No ClinGen
gnomAD
rs1380081623
CA401645985
465 E>G No ClinGen
TOPMed
rs1598286379
CA401645954
469 E>A No ClinGen
Ensembl
CA401645945
rs1230419699
470 A>G No ClinGen
TOPMed
CA401645936
rs1305577350
472 E>Q No ClinGen
gnomAD
rs1229070882
CA401645919
474 A>T No ClinGen
TOPMed
gnomAD
rs1381697316
CA401645908
475 D>E No ClinGen
gnomAD
rs1334768586
CA401645904
476 P>S No ClinGen
gnomAD
rs768267123
CA8866205
478 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs749307095
CA8866204
479 M>I No ClinGen
ExAC
gnomAD
rs189055293
CA8866202
482 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA8866203
rs779852649
482 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8866201
rs745360942
485 K>Q No ClinGen
ExAC
gnomAD
rs1256645404
CA401645817
487 V>M No ClinGen
TOPMed
COSM1388113
CA8866185
rs775547853
502 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8866186
rs762624783
502 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1289801390
CA401645702
504 S>I No ClinGen
gnomAD
rs895075446
CA295331089
510 P>A No ClinGen
TOPMed
CA295331084
rs1054076229
510 P>L No ClinGen
TOPMed
CA401645375
rs1436910640
531 K>R No ClinGen
TOPMed
rs746719209
CA8866179
532 E>Q No ClinGen
ExAC
rs755407022 534 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA295331034
rs377720582
534 P>L No ClinGen
ESP
gnomAD
CA8866155
rs138671246
535 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA401645083
rs1194862191
536 P>S No ClinGen
gnomAD
CA8866153
rs746446174
537 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs756487622
CA8866154
537 S>P No ClinGen
ExAC
gnomAD
rs781756311
CA8866152
538 E>G No ClinGen
ExAC
TOPMed
rs751614194
CA8866150
548 E>D No ClinGen
ExAC
gnomAD
CA8866149
rs764197569
551 N>S No ClinGen
ExAC
gnomAD
CA8866147
rs752909026
555 L>Q No ClinGen
ExAC
gnomAD
CA401644936
rs1219585933
557 E>A No ClinGen
gnomAD
CA8866146
rs765003260
559 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA295330066
rs7343043
561 P>L No ClinGen
Ensembl
rs988418371
CA295330061
564 R>P No ClinGen
TOPMed
gnomAD
CA401644875
rs988418371
564 R>Q No ClinGen
TOPMed
gnomAD
CA8866128
rs752932820
564 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1304075550
CA401644873
565 R>* No ClinGen
TOPMed
rs370144365
CA8866127
565 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1598284174
CA401644858
567 K>R No ClinGen
Ensembl
CA295330053
rs749979436
570 T>R No ClinGen
Ensembl
COSM3692094
CA8866126
rs754814035
571 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1179413090
CA401644829
572 E>A No ClinGen
TOPMed
gnomAD
rs1179413090
CA401644828
572 E>G No ClinGen
TOPMed
gnomAD
CA295330029
rs958265112
572 E>K No ClinGen
Ensembl
rs753651519
CA8866125
574 I>M No ClinGen
ExAC
gnomAD
CA8866124
rs766121793
575 E>G No ClinGen
ExAC
gnomAD
TCGA novel 577 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1330590537
CA401644780
579 N>S No ClinGen
TOPMed
TCGA novel 582 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750315921
CA8866122
582 G>V No ClinGen
ExAC
gnomAD
rs200603522
CA295330006
583 E>K No ClinGen
1000Genomes
CA8866120
rs201476225
584 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8866121
rs201737592
584 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8866118
rs768445844
585 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs777142821
CA8866116
587 I>T No ClinGen
ExAC
gnomAD
CA401644706
rs1272911508
590 P>L No ClinGen
Ensembl
CA401644662
rs1473573815
596 D>A No ClinGen
TOPMed
rs772081290
CA8866112
598 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1458581066
CA401644642
599 I>F No ClinGen
TOPMed
rs1458581066
CA401644644
599 I>L No ClinGen
TOPMed
rs1422973174
CA401644639
599 I>T No ClinGen
gnomAD
rs1159849616
CA401644637
600 R>G No ClinGen
gnomAD
CA295329969
rs1028039225
600 R>T No ClinGen
Ensembl
CA8866111
rs748233567
601 Q>E No ClinGen
ExAC
gnomAD
CA401644614
rs1389025779
603 E>G No ClinGen
TOPMed
CA8866110
rs778910404
603 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8866108
rs753991890
604 C>G No ClinGen
ExAC
rs1481072213
CA401644607
604 C>S No ClinGen
gnomAD
CA401644608
rs1481072213
604 C>Y No ClinGen
gnomAD
rs779836882
CA8866107
605 D>A No ClinGen
ExAC
gnomAD
rs1271486053
CA401644603
605 D>H No ClinGen
gnomAD
CA401644567
rs1215838101
609 M>I No ClinGen
gnomAD
CA8866106
rs755923145
609 M>T No ClinGen
ExAC
gnomAD
rs767468917
CA8866104
611 M>L No ClinGen
ExAC
gnomAD
rs1223116538
CA401644547
612 R>G No ClinGen
gnomAD
TCGA novel 613 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1284947013
CA401644533
614 K>E No ClinGen
gnomAD
rs1402886345
CA401644529
614 K>T No ClinGen
gnomAD
rs371637037
CA295329925
615 Q>H No ClinGen
ESP
CA401644502
rs1287348208
619 A>P No ClinGen
TOPMed
rs555128357
CA295329918
626 V>I No ClinGen
Ensembl
rs762712809
CA8866100
629 T>I No ClinGen
ExAC
gnomAD
CA401644412
rs1470579967
631 E>D No ClinGen
gnomAD
CA401644414
rs1317802839
631 E>G No ClinGen
gnomAD
CA8866099
rs775272891
635 N>K No ClinGen
ExAC
gnomAD
rs1040203185
CA295329911
635 N>S No ClinGen
TOPMed
rs1480334384
CA401644380
636 A>G No ClinGen
gnomAD
rs761073200
CA8866097
638 N>D No ClinGen
ExAC
gnomAD
CA401644370
rs1486666763
638 N>T No ClinGen
gnomAD
rs1598283995
CA401644337
643 S>G No ClinGen
Ensembl
TCGA novel 644 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401644300
rs1264933178
648 S>G No ClinGen
TOPMed
gnomAD
rs773637900
CA8866095
649 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA628030827
rs1567840057
652 D>* No ClinGen
Ensembl
CA401644276
rs1322533426
652 D>H No ClinGen
gnomAD
CA8866093
rs657541
653 N>D No ClinGen
ExAC
gnomAD
CA295329851
rs657541
653 N>H No ClinGen
ExAC
gnomAD
CA401644266
rs1216542754
653 N>S No ClinGen
gnomAD
TCGA novel 654 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295329837
rs774415125
656 N>K No ClinGen
ExAC
gnomAD
CA401644246
rs1269606971
656 N>Y No ClinGen
gnomAD

No associated diseases with Q96FV9

1 regional properties for Q96FV9

Type Name Position InterPro Accession
domain Tubulin epsilon and delta complex protein 1 domain 86 - 256 IPR027996

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Nucleus speckle
  • Nucleus, nucleoplasm
  • Nucleus matrix
  • Cytoplasm
  • Can shuttle between the nucleus and cytoplasm
  • Nuclear localization is required for induction of apoptotic cell death
  • Translocates to the cytoplasm during the early phase of apoptosis execution
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear matrix The dense fibrillar network lying on the inner side of the nuclear membrane.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
THO complex The THO complex is a nuclear complex that is required for transcription elongation through genes containing tandemly repeated DNA sequences. The THO complex is also part of the TREX (TRanscription EXport) complex that is involved in coupling transcription to export of mRNAs to the cytoplasm. In S. cerevisiae, it is composed of four subunits: Hpr1p, Tho2p, Thp1p, and Mft1p, while the human complex is composed of 7 subunits.
THO complex part of transcription export complex The THO complex when it is part of the TREX (TRanscription EXport) complex that is involved in coupling transcription to export of mRNAs to the cytoplasm. In S. cerevisiae, it is composed of four subunits: Hpr1, Tho2, Thp1, and Mft1, while the human complex is composed of 7 subunits.
transcription export complex The transcription export (TREX) complex couples transcription elongation by RNA polymerase II to mRNA export. The complex associates with the polymerase and travels with it along the length of the transcribed gene. TREX is composed of the THO transcription elongation complex as well as other proteins that couple THO to mRNA export proteins. The TREX complex is known to be found in a wide range of eukaryotes, including S. cerevisiae and metazoans.

2 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
RNA binding Binding to an RNA molecule or a portion thereof.

13 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.
mRNA export from nucleus The directed movement of mRNA from the nucleus to the cytoplasm.
mRNA processing Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of DNA damage checkpoint Any process that stops, prevents, or reduces the frequency, rate or extent of a DNA damage checkpoint.
negative regulation of isotype switching to IgA isotypes Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching to IgA isotypes.
positive regulation of DNA-templated transcription, elongation Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
regulation of DNA recombination Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents.
regulation of DNA-templated transcription elongation Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
replication fork processing The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes.
RNA processing Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.
RNA splicing The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
viral mRNA export from host cell nucleus The directed movement of intronless viral mRNA from the host nucleus to the cytoplasm for translation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8R3N6 Thoc1 THO complex subunit 1 Mus musculus (Mouse) PR
P59924 Thoc1 THO complex subunit 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSPTPPLFSL PEARTRFTKS TREALNNKNI KPLLSTFSQV PGSENEKKCT LDQAFRGILE
70 80 90 100 110 120
EEIINHSSCE NVLAIISLAI GGVTEGICTA STPFVLLGDV LDCLPLDQCD TIFTFVEKNV
130 140 150 160 170 180
ATWKSNTFYS AGKNYLLRMC NDLLRRLSKS QNTVFCGRIQ LFLARLFPLS EKSGLNLQSQ
190 200 210 220 230 240
FNLENVTVFN TNEQESTLGQ KHTEDREEGM DVEEGEMGDE EAPTTCSIPI DYNLYRKFWS
250 260 270 280 290 300
LQDYFRNPVQ CYEKISWKTF LKYSEEVLAV FKSYKLDDTQ ASRKKMEELK TGGEHVYFAK
310 320 330 340 350 360
FLTSEKLMDL QLSDSNFRRH ILLQYLILFQ YLKGQVKFKS SNYVLTDEQS LWIEDTTKSV
370 380 390 400 410 420
YQLLSENPPD GERFSKMVEH ILNTEENWNS WKNEGCPSFV KERTSDTKPT RIIRKRTAPE
430 440 450 460 470 480
DFLGKGPTKK ILMGNEELTR LWNLCPDNME ACKSETREHM PTLEEFFEEA IEQADPENMV
490 500 510 520 530 540
ENEYKAVNNS NYGWRALRLL ARRSPHFFQP TNQQFKSLPE YLENMVIKLA KELPPPSEEI
550 560 570 580 590 600
KTGEDEDEED NDALLKENES PDVRRDKPVT GEQIEVFANK LGEQWKILAP YLEMKDSEIR
610 620 630 640 650
QIECDSEDMK MRAKQLLVAW QDQEGVHATP ENLINALNKS GLSDLAESLT NDNETNS