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 Q99755

Entry ID Method Resolution Chain Position Source
AF-Q99755-F1 Predicted AlphaFoldDB

354 variants for Q99755

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1389588176
CA341910581
4 A>V No ClinGen
gnomAD
rs757909566
CA341910613
6 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1087149
rs757909566
6 S>Y No ClinGen
ExAC
gnomAD
rs146472749
CA1087151
7 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765203580
CA1087150
7 G>R No ClinGen
ExAC
rs758497457
CA1087152
8 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs747867472
CA1087154
9 S>* No ClinGen
ExAC
gnomAD
rs1011266712
CA29505782
11 S>L No ClinGen
TOPMed
gnomAD
rs1280371198
CA341910816
15 S>* No ClinGen
gnomAD
CA341910803
rs1217129145
15 S>A No ClinGen
gnomAD
CA1087156
rs777602849
16 S>F No ClinGen
ExAC
gnomAD
CA341910913
rs1203613440
19 P>L No ClinGen
gnomAD
rs143477505
CA1087159
20 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745417143
CA1087160
21 V>I No ClinGen
ExAC
gnomAD
rs771559819
CA341910979
22 P>A No ClinGen
ExAC
gnomAD
CA341910995
rs1171019290
22 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs771559819
CA1087161
22 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1087162
rs775222396
23 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1087164
rs764552843
24 C>R No ClinGen
ExAC
gnomAD
CA29505837
rs140435966
25 T>I No ClinGen
ESP
TOPMed
rs1160632500
CA341911119
26 L>S No ClinGen
gnomAD
CA1087167
rs183368936
27 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1437798168
CA341917366
30 A>V No ClinGen
TOPMed
CA341917375
rs1257452370
31 S>A No ClinGen
gnomAD
rs771475886
CA1087214
36 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA341917437
rs771475886
36 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA341917465
rs1329695141
38 A>T No ClinGen
TOPMed
rs1278671845
CA341917845
41 V>I No ClinGen
TOPMed
rs1220499618
CA341917868
42 L>F No ClinGen
TOPMed
CA29529428
rs796608225
44 A>S No ClinGen
Ensembl
rs894274287
CA29529443
46 Q>* No ClinGen
TOPMed
rs760095699
CA1087235
47 D>V No ClinGen
ExAC
gnomAD
rs1336049208
CA341917936
48 S>F No ClinGen
gnomAD
CA1087238
rs199497446
49 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201886237
CA1087236
49 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA341917972
rs1462540188
51 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 52 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370166597
CA1087260
53 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766268525
CA1087262
56 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1213811665
CA341918197
59 M>I No ClinGen
gnomAD
CA341918180
rs1322990463
59 M>L No ClinGen
gnomAD
TCGA novel 60 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558272703
CA341918219
61 I>M No ClinGen
Ensembl
CA1087264
rs759523740
62 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA341918261
rs1210317038
64 I>T No ClinGen
gnomAD
CA1087266
rs752209854
67 R>T No ClinGen
ExAC
gnomAD
rs755582526
CA1087267
68 S>G No ClinGen
ExAC
gnomAD
rs373842118
CA1087268
68 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341918332
rs1476215546
70 D>A No ClinGen
gnomAD
CA29531842
rs915680088
74 E>G No ClinGen
Ensembl
rs199964115
CA29531844
77 Y>* No ClinGen
Ensembl
TCGA novel 84 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570940089
CA341919763
84 A>V No ClinGen
Ensembl
TCGA novel 85 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174425342
CA341919904
90 Q>R No ClinGen
gnomAD
TCGA novel 94 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341920078
rs1200271456
98 G>R No ClinGen
TOPMed
rs1411195632
CA341920111
99 S>N No ClinGen
gnomAD
CA341920186
rs1279749049
101 S>N No ClinGen
gnomAD
rs1342696083
CA341920227
102 T>I No ClinGen
TOPMed
rs775302806
CA1087284
103 K>T No ClinGen
ExAC
gnomAD
rs587682988
CA29535696
104 P>L No ClinGen
1000Genomes
rs763482724
CA1087286
106 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341920368
rs1348431747
106 R>H No ClinGen
gnomAD
rs1273867285
CA341920472
110 M>V No ClinGen
TOPMed
CA1087289
rs764903695
112 D>H No ClinGen
ExAC
gnomAD
rs750724768
CA1087290
113 F>S No ClinGen
ExAC
gnomAD
rs779784493
CA29535784
115 V>M No ClinGen
Ensembl
rs1332278204
CA341920706
116 V>L No ClinGen
TOPMed
CA1087291
rs758707233
118 S>T No ClinGen
ExAC
TOPMed
CA1087292
rs780521602
120 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs752756497
CA1087315
125 G>R No ClinGen
ExAC
gnomAD
CA341921252
rs1394830220
134 Y>H No ClinGen
gnomAD
CA1087318
rs778057101
135 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs778057101
CA1087317
135 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA341921283
rs1328057988
135 N>K No ClinGen
gnomAD
rs771233592
CA1087319
135 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA341921292
rs1480323915
136 D>G No ClinGen
TOPMed
gnomAD
rs746855603
CA1087321
138 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341921498
rs1311808402
145 V>A No ClinGen
TOPMed
rs769285963
CA1087325
148 R>H No ClinGen
ExAC
gnomAD
CA1087327
rs762488256
151 R>W No ClinGen
ExAC
gnomAD
CA29536465
rs143805959
156 I>V No ClinGen
ESP
rs774538039
CA1087329
157 R>Q No ClinGen
ExAC
gnomAD
rs766074475
CA1087328
157 R>W No ClinGen
ExAC
gnomAD
CA1087330
COSM106616
rs146767366
158 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1087332
rs753241257
159 D>N No ClinGen
ExAC
gnomAD
CA1087333
rs753241257
159 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 161 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382637005
CA341921839
161 Y>C No ClinGen
gnomAD
rs764247872
CA1087334
161 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 162 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1281752951
CA341922513
163 Y>C No ClinGen
gnomAD
rs369780167
CA1087357
COSM1262225
169 P>L Variant assessed as Somatic; 4.663e-05 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369780167
CA341922596
169 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757374502
CA1087356
169 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1423547472
CA341922615
171 I>V No ClinGen
TOPMed
CA1087360
rs758656460
174 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 175 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 185 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1087363
rs587643022
187 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 192 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392199192
CA341922969
192 I>V No ClinGen
gnomAD
CA341922984
rs1335188386
193 I>V No ClinGen
TOPMed
rs1383402826
CA341923153
206 K>Q No ClinGen
TOPMed
CA341923223
rs1292227762
211 Y>* No ClinGen
TOPMed
CA1087391
rs779867805
216 N>S No ClinGen
ExAC
gnomAD
TCGA novel 217 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1475489460
CA341923523
219 P>R No ClinGen
TOPMed
CA29537871
rs1003261676
222 L>S No ClinGen
TOPMed
CA341923660
rs1570956026
224 P>L No ClinGen
Ensembl
rs1048925301
CA29537872
227 Y>F No ClinGen
gnomAD
CA1087395
rs762356101
231 C>Y No ClinGen
ExAC
gnomAD
CA341923841
rs1222838342
233 Q>* No ClinGen
TOPMed
rs770221352
CA1087397
234 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs770221352
CA1087396
234 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1087398
rs763022795
234 A>V No ClinGen
ExAC
gnomAD
rs1463214866
CA341923935
237 K>R No ClinGen
gnomAD
rs766529574
CA1087399
240 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1087400
rs751766379
242 V>M No ClinGen
ExAC
gnomAD
CA1087401
rs759819974
244 M>T No ClinGen
ExAC
TCGA novel 249 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377064939
CA29537953
251 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs377064939
CA341924249
251 S>W No ClinGen
ESP
TOPMed
gnomAD
CA1087402
rs587618751
255 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 255 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs587680327
CA1087403
256 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1087405
rs778722548
257 K>E No ClinGen
ExAC
gnomAD
CA341924452
rs1233511641
261 K>E No ClinGen
gnomAD
rs779780000
CA1087408
265 Y>C No ClinGen
ExAC
gnomAD
rs1314880365
CA341924588
267 R>W No ClinGen
TOPMed
gnomAD
rs754640579
CA1087410
268 R>Q No ClinGen
ExAC
gnomAD
CA1087409
rs746632430
268 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs781567276
CA1087411
274 R>G No ClinGen
ExAC
CA1087412
rs748489655
274 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 277 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341924807
rs1352387736
279 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs749850177
CA1087415
282 K>N No ClinGen
ExAC
gnomAD
rs1165884119
CA341924871
283 D>E No ClinGen
gnomAD
rs1371904495
CA341924875
284 L>V No ClinGen
TOPMed
CA341924886
rs1380989777
285 D>N No ClinGen
TOPMed
gnomAD
CA1087416
rs770993079
288 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1161771106
CA341924971
289 D>E No ClinGen
gnomAD
rs1314998906
CA341924959
289 D>G No ClinGen
gnomAD
CA341924988
rs1346235154
290 I>T No ClinGen
gnomAD
rs587717250
CA1087417
291 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
CA341925025
rs759781472
292 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA1087418
rs759781472
292 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1087420
rs767663810
295 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs756244757 296 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs756244757 296 L>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1570957266
CA341925154
297 D>E No ClinGen
Ensembl
CA341925197
rs374846839
299 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341925178
rs1287302815
299 D>N No ClinGen
gnomAD
CA1087421
rs374846839
299 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341925225
rs1483393459
300 M>T No ClinGen
TOPMed
rs1225220689
CA341925212
300 M>V No ClinGen
TOPMed
gnomAD
rs758849500
CA29538062
301 Y>* No ClinGen
Ensembl
rs761527729
CA1087422
302 N>S No ClinGen
ExAC
gnomAD
rs1282434679
CA341925356
304 L>F No ClinGen
gnomAD
TCGA novel 304 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1087425
rs183966255
307 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs145572106
CA29538077
309 Q>H No ClinGen
ESP
gnomAD
rs1242484794
CA341925531
310 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1570957692
CA341925582
311 D>E No ClinGen
Ensembl
TCGA novel 311 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 316 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341926694
rs1397385437
323 Y>C No ClinGen
gnomAD
rs1570969495
CA341926738
324 S>I No ClinGen
Ensembl
TCGA novel 326 L>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1281790611
CA341926829
328 S>T No ClinGen
TOPMed
CA1087445
rs766446469
329 I>V No ClinGen
ExAC
TOPMed
CA1087447
rs754456936
331 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs61751621
CA1087448
332 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs587729901
CA1087450
333 D>G No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 333 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158439875
CA341927653
334 H>Y No ClinGen
TOPMed
rs985420378
CA29539480
337 R>* No ClinGen
gnomAD
rs985420378
CA341927711
337 R>G No ClinGen
gnomAD
rs141668904
CA1087451
337 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141668904
CA29539490
337 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1180079290
CA341927782
339 P>L No ClinGen
TOPMed
rs1273921227
CA341927768
339 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746446850
CA1087455
341 S>N No ClinGen
ExAC
rs772042441
COSM398521
CA1087456
341 S>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA341927860
rs1255300622
342 S>N No ClinGen
gnomAD
TCGA novel 345 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1193060839
CA341927957
346 Y>C No ClinGen
gnomAD
rs962167295
CA29539523
346 Y>H No ClinGen
TOPMed
gnomAD
CA1087457
rs780225134
347 S>L No ClinGen
ExAC
gnomAD
CA341928051
rs1168022300
349 D>G No ClinGen
gnomAD
rs1476079648
CA341928029
349 D>N No ClinGen
TOPMed
gnomAD
CA341928073
rs1416622412
350 T>N No ClinGen
gnomAD
rs747179720
CA1087458
351 R>* No ClinGen
ExAC
gnomAD
rs769026009
CA1087459
353 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1087462
rs368254946
354 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215805107
CA341928161
355 P>R No ClinGen
TOPMed
rs759583481
CA1087465
356 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs757546289 356 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1382778122
CA341928391
365 E>* No ClinGen
TOPMed
CA341928425
rs1275360280
366 S>A No ClinGen
gnomAD
TCGA novel 368 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202555114
CA341928542
370 E>A No ClinGen
gnomAD
rs1335880667
CA341928563
371 A>S No ClinGen
TOPMed
gnomAD
CA341928552
rs1335880667
371 A>T No ClinGen
TOPMed
gnomAD
rs933715329
CA29539608
372 R>* No ClinGen
TOPMed
rs933715329
CA341928580
372 R>G No ClinGen
TOPMed
CA1087467
rs766905114
372 R>Q No ClinGen
ExAC
gnomAD
rs917226973
CA29539623
373 R>Q No ClinGen
TOPMed
gnomAD
CA1087468
rs752299839
373 R>W No ClinGen
ExAC
gnomAD
rs1193197347
CA341928637
375 G>R No ClinGen
gnomAD
rs760271474
CA1087469
376 T>A No ClinGen
ExAC
gnomAD
rs763740355
CA341928683
377 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1404681528
CA341928685
377 M>T No ClinGen
TOPMed
rs763740355
CA1087470
377 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1177374514
CA341928743
379 T>A No ClinGen
TOPMed
gnomAD
rs1177374514
CA341928742
379 T>P No ClinGen
TOPMed
gnomAD
rs1447445559
CA341928798
381 D>E No ClinGen
TOPMed
CA341928806
rs754145025
382 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs754145025
CA1087471
382 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA341929078
rs1183192132
383 M>R No ClinGen
TOPMed
rs748351425
CA1087502
389 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs368478257
CA1087501
389 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1455543251
CA341929215
391 S>R No ClinGen
gnomAD
rs587652042
CA1087503
394 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1045534805
CA29540630
395 R>S No ClinGen
TOPMed
CA341929312
rs1570980717
396 L>I No ClinGen
Ensembl
rs1378269733
CA341929462
405 I>V No ClinGen
gnomAD
rs898847926
CA29541353
413 K>N No ClinGen
TOPMed
rs1232292734
CA341930545
417 H>R No ClinGen
gnomAD
rs1231195477
CA341930585
419 W>* No ClinGen
Ensembl
rs1231195477
CA341930592
419 W>C No ClinGen
Ensembl
CA29541378
rs953792929
425 D>E No ClinGen
TOPMed
gnomAD
CA29541371
rs748387772
425 D>N No ClinGen
TOPMed
gnomAD
CA341930721
rs1222053991
426 G>R No ClinGen
gnomAD
rs769345973
CA1087550
428 T>A No ClinGen
ExAC
CA1087551
rs777191309
428 T>S No ClinGen
ExAC
gnomAD
rs1417741813
CA341931083
430 S>L No ClinGen
gnomAD
CA29542123
rs920118931
431 V>A No ClinGen
Ensembl
rs1160946193
CA341931115
432 H>L No ClinGen
gnomAD
rs587773647
CA1087552
433 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM895740
rs1433513533
CA341931152
433 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1310548825
CA341931160
434 P>S No ClinGen
gnomAD
CA1087554
rs774818450
435 G>S No ClinGen
ExAC
gnomAD
CA1087557
rs776135660
438 A>G No ClinGen
ExAC
gnomAD
CA1087556
rs772649098
438 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA341931274
rs772649098
438 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs764210000
CA1087559
439 E>Q No ClinGen
ExAC
gnomAD
CA1087561
rs762052509
440 R>Q No ClinGen
ExAC
gnomAD
rs1327470594
CA341931370
440 R>W No ClinGen
TOPMed
rs1444188031
CA341931439
442 Q>R No ClinGen
TOPMed
CA1087562
rs765446519
443 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs368324834
CA1087563
443 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765446519
CA341931469
443 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA29542188
rs944396523
445 M>L No ClinGen
Ensembl
CA341931547
rs1232569120
446 C>S No ClinGen
gnomAD
rs752651579
CA1087566
449 V>A No ClinGen
ExAC
gnomAD
CA341931693
rs1426663465
452 K>N No ClinGen
gnomAD
CA1087568
rs777290314
453 I>M No ClinGen
ExAC
gnomAD
rs751125575
CA29542217
454 P>T No ClinGen
Ensembl
rs767279975
CA1087582
458 S>P No ClinGen
ExAC
CA341932895
rs1431348953
461 K>N No ClinGen
TOPMed
gnomAD
CA1087584
rs756039919
463 F>Y No ClinGen
ExAC
gnomAD
rs1057071633
CA29544039
464 R>P No ClinGen
TOPMed
rs1057071633
CA341932951
464 R>Q No ClinGen
TOPMed
rs763944215
COSM1688515
CA1087585
464 R>W Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1087586
rs367565944
465 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1087587
rs756814723
466 G>V No ClinGen
ExAC
gnomAD
CA341933025
rs1558300731
467 S>L No ClinGen
Ensembl
rs201156474
CA1087588
467 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1087589
rs745492896
469 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA1087591
rs143418421
471 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1360030623
CA341933074
COSM895742
471 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA1087592
rs747336821
472 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs769145729
CA1087593
472 R>Q No ClinGen
ExAC
gnomAD
CA341933132
rs1334591796
474 G>V No ClinGen
TOPMed
gnomAD
CA341933160
rs1212235500
476 S>G No ClinGen
gnomAD
rs145963778
CA1087595
476 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145963778
CA1087594
476 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341933190
rs1345729881
477 G>D No ClinGen
TOPMed
rs1452699956
CA341933215
479 S>A No ClinGen
gnomAD
CA1087596
rs769836532
479 S>F No ClinGen
ExAC
gnomAD
CA341933288
COSM675477
rs1193905962
481 I>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs766621452
CA1087600
485 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs760401547
CA1087602
486 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA341933524
rs1326818782
486 S>P No ClinGen
TOPMed
rs764008438
CA1087603
488 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA341933613
rs1358672146
489 G>A No ClinGen
gnomAD
CA1087606
rs757308798
493 A>P No ClinGen
ExAC
gnomAD
CA341933763
rs1558301139
494 Q>R No ClinGen
Ensembl
rs764789691
CA1087607
495 V>M No ClinGen
ExAC
gnomAD
rs1172680874
CA341933809
496 T>A No ClinGen
TOPMed
rs1180353028
CA341933849
498 K>E No ClinGen
TOPMed
CA1087611
rs779584257
499 A>E No ClinGen
ExAC
gnomAD
rs1488956772
CA341934055
501 V>A No ClinGen
gnomAD
rs1220798373
CA341934048
501 V>M No ClinGen
TOPMed
gnomAD
CA341934112
rs1571008347
502 E>V No ClinGen
Ensembl
rs776808513
CA29544250
503 P>S No ClinGen
TOPMed
CA341934389
rs753093664
505 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA1087638
rs753093664
505 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1087639
rs756548247
507 L>F No ClinGen
ExAC
gnomAD
rs369595384
COSM1688516
CA1087640
509 R>C skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs749852302
CA1087641
509 R>H No ClinGen
ExAC
gnomAD
rs369595384
CA341934577
509 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341934609
rs1362412036
510 P>S No ClinGen
gnomAD
rs1317043371
CA341934661
511 D>A No ClinGen
TOPMed
rs145227602
CA1087644
514 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770912018
CA1087643
514 P>T No ClinGen
ExAC
gnomAD
COSM3788677
CA29544576
rs948426480
515 Q>H urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
CA29544584
rs373292831
517 P>S No ClinGen
ESP
gnomAD
CA341935016
rs1379650562
518 P>L No ClinGen
gnomAD
rs587626634
CA1087646
518 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs909513820
CA29544606
519 L>S No ClinGen
TOPMed
gnomAD
rs1303368528
CA341935053
520 E>* No ClinGen
gnomAD
rs1309913397
CA341935098
521 E>K No ClinGen
gnomAD
rs776500415
CA1087647
523 S>I No ClinGen
ExAC
gnomAD
rs1243289425
CA341935175
523 S>R No ClinGen
gnomAD
rs761710169
CA1087648
525 G>D No ClinGen
ExAC
gnomAD
CA1087649
rs769767244
526 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA341935283
rs1205062927
527 P>S No ClinGen
gnomAD
rs762984350
CA1087651
528 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1087650
rs150758573
528 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765787767
CA1087652
530 D>H No ClinGen
ExAC
gnomAD
rs587740685
CA1087653
530 D>V No ClinGen
1000Genomes
ExAC
gnomAD
CA341935377
rs1465434285
531 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs145126650
CA1087655
532 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341935411
rs145126650
532 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341935443
rs1378363788
533 F>C No ClinGen
gnomAD
rs753003503
CA1087656
534 S>L No ClinGen
ExAC
gnomAD
rs1402872813
CA341935556
535 P>L No ClinGen
gnomAD
CA341935581
rs1466514957
536 L>P No ClinGen
gnomAD
CA341935564
rs1184193329
536 L>V No ClinGen
gnomAD
rs754312824
CA1087659
538 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs757804334
CA1087660
539 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA341935642
rs1387941787
539 E>Q No ClinGen
gnomAD
CA341935700
rs1296464409
540 T>A No ClinGen
TOPMed
CA341935737
rs1325409250
541 L>S No ClinGen
TOPMed
gnomAD
rs778818618
CA1087661
543 M>I No ClinGen
ExAC
gnomAD
CA1087662
rs370044998
544 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1087664
rs780407802
546 T>A No ClinGen
ExAC
CA1087688
rs147880950
548 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147880950
CA1087687
548 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341938336
rs1285202012
549 T>A No ClinGen
TOPMed
rs774333574
CA1087689
549 T>I No ClinGen
ExAC
gnomAD
CA29548688
rs779731734
551 E>* No ClinGen
Ensembl
rs199847455
CA29548693
552 K>R No ClinGen
1000Genomes
CA341938477
rs1240847577
553 L>F No ClinGen
TOPMed
rs1227546261
CA341938548
556 A>S No ClinGen
TOPMed
rs1028690083
COSM1472598
CA29548709
558 S>L Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA1087693
rs775031654
559 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA341938727
rs1304298115
561 T>I No ClinGen
TOPMed
rs760279547
CA1087694
562 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1087718
rs767000368
563 H>E No ClinGen
ExAC
gnomAD
rs751636951
CA1087719
563 H>L No ClinGen
ExAC
gnomAD

No associated diseases with Q99755

1 regional properties for Q99755

Type Name Position InterPro Accession
domain Phosphatidylinositol-4-phosphate 5-kinase, core 81 - 450 IPR002498

Functions

Description
EC Number 2.7.1.68 Phosphotransferases with an alcohol group as acceptor
Subcellular Localization
  • Cell membrane
  • Cytoplasm
  • Nucleus
  • Nucleus speckle
  • Cell projection, ruffle
  • Cell projection, lamellipodium
  • Colocalizes with RAC1 at actin-rich membrane ruffles (PubMed:20660631)
  • Localizes to nuclear speckles and associates with TUT1 to regulate polyadenylation of selected mRNAs (PubMed:18288197)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle membrane The portion of the plasma membrane surrounding a ruffle.

6 GO annotations of molecular function

Name Definition
1-phosphatidylinositol-3-phosphate 5-kinase activity Catalysis of the reaction: a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + ADP + 2 H(+).
1-phosphatidylinositol-4-phosphate 5-kinase activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ADP + 2 H(+).
1-phosphatidylinositol-5-kinase activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + ADP + 2 H(+).
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
phosphatidylinositol-3,4-bisphosphate 5-kinase activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+).

17 GO annotations of biological process

Name Definition
actin cytoskeleton reorganization A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
activation of GTPase activity Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
fibroblast migration Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
focal adhesion assembly The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
glycerophospholipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.
keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
phosphatidylinositol biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of phosphatidylinositol 3-kinase signaling Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
ruffle assembly The aggregation, arrangement and bonding together of a set of components to form a ruffle, a projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. The formation of ruffles (also called membrane ruffling) is thought to be controlled by a group of enzymes known as Rho GTPases, specifically RhoA, Rac1 and cdc42.
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.

15 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0P5F7 PIP4K2C Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Bos taurus (Bovine) PR
Q17QS4 PIP5KL1 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 Bos taurus (Bovine) PR
Q8TBX8 PIP4K2C Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Homo sapiens (Human) PR
P78356 PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta Homo sapiens (Human) PR
Q5T9C9 PIP5KL1 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 Homo sapiens (Human) PR
Q91XU3 Pip4k2c Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Mus musculus (Mouse) PR
Q80XI4 Pip4k2b Phosphatidylinositol 5-phosphate 4-kinase type-2 beta Mus musculus (Mouse) PR
Q6U7H8 Pip5kl1 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 Mus musculus (Mouse) PR
O88370 Pip4k2c Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Rattus norvegicus (Rat) PR
O48709 PIP5K3 Phosphatidylinositol 4-phosphate 5-kinase 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q56YP2 PIP5K1 Phosphatidylinositol 4-phosphate 5-kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SFB8 PIP5K6 Phosphatidylinositol 4-phosphate 5-kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q8L796 PIP5K2 Phosphatidylinositol 4-phosphate 5-kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q6GL14 pip4k2c Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6IQE1 pip4k2c Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MASASSGPSS SVGFSSFDPA VPSCTLSSAA SGIKRPMASE VLEARQDSYI SLVPYASGMP
70 80 90 100 110 120
IKKIGHRSVD SSGETTYKKT TSSALKGAIQ LGITHTVGSL STKPERDVLM QDFYVVESIF
130 140 150 160 170 180
FPSEGSNLTP AHHYNDFRFK TYAPVAFRYF RELFGIRPDD YLYSLCSEPL IELCSSGASG
190 200 210 220 230 240
SLFYVSSDDE FIIKTVQHKE AEFLQKLLPG YYMNLNQNPR TLLPKFYGLY CVQAGGKNIR
250 260 270 280 290 300
IVVMNNLLPR SVKMHIKYDL KGSTYKRRAS QKEREKPLPT FKDLDFLQDI PDGLFLDADM
310 320 330 340 350 360
YNALCKTLQR DCLVLQSFKI MDYSLLMSIH NIDHAQREPL SSETQYSVDT RRPAPQKALY
370 380 390 400 410 420
STAMESIQGE ARRGGTMETD DHMGGIPARN SKGERLLLYI GIIDILQSYR FVKKLEHSWK
430 440 450 460 470 480
ALVHDGDTVS VHRPGFYAER FQRFMCNTVF KKIPLKPSPS KKFRSGSSFS RRAGSSGNSC
490 500 510 520 530 540
ITYQPSVSGE HKAQVTTKAE VEPGVHLGRP DVLPQTPPLE EISEGSPIPD PSFSPLVGET
550 560
LQMLTTSTTL EKLEVAESEF TH