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

28 structures for Q99459

Entry ID Method Resolution Chain Position Source
2DIM NMR - A 7-63 PDB
2DIN NMR - A 59-111 PDB
5MQF EM 590 A L 1-802 PDB
5XJC EM 360 A L 1-802 PDB
5YZG EM 410 A L 1-802 PDB
5Z56 EM 510 A L 1-802 PDB
5Z57 EM 650 A L 1-802 PDB
5Z58 EM 490 A L 1-802 PDB
6FF4 EM 1600 A L 1-802 PDB
6FF7 EM 450 A L 1-802 PDB
6ICZ EM 300 A L 1-802 PDB
6ID0 EM 290 A L 1-802 PDB
6ID1 EM 286 A L 1-802 PDB
6QDV EM 330 A O 1-802 PDB
6ZYM EM 340 A L 1-802 PDB
7A5P EM 500 A L 1-802 PDB
7AAV EM 420 A L 1-802 PDB
7ABG EM 780 A L 1-802 PDB
7ABH EM 450 A L 1-802 PDB
7ABI EM 800 A L 1-802 PDB
7DVQ EM 289 A L 1-802 PDB
7QTT EM 310 A P 1-802 PDB
7W59 EM 360 A L 1-802 PDB
7W5A EM 360 A L 1-802 PDB
7W5B EM 430 A L 1-802 PDB
8C6J EM 280 A O 1-802 PDB
8CH6 EM 590 A P 1-802 PDB
AF-Q99459-F1 Predicted AlphaFoldDB

450 variants for Q99459

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000416577
CA3835547
rs368161524
601 K>R Congenital anomaly of kidney and urinary tract [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA364304377
rs1341240964
2 P>R No ClinGen
gnomAD
rs866743535
CA138378877
3 R>L No ClinGen
Ensembl
CA364304664
rs1223134654
14 T>A No ClinGen
gnomAD
CA364304661
rs1223134654
14 T>P No ClinGen
gnomAD
CA364305702
rs781411018
40 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA3835151
rs748609661
49 R>G No ClinGen
ExAC
gnomAD
CA364306324
rs1438434841
50 W>C No ClinGen
gnomAD
CA364306375
rs1277782245
54 L>P No ClinGen
TOPMed
CA364306392
rs1184136297
56 P>A No ClinGen
gnomAD
CA364306403
rs1472628285
57 S>G No ClinGen
gnomAD
CA364306407
rs1583105724
57 S>N No ClinGen
Ensembl
rs915033150
CA138382476
64 S>F No ClinGen
Ensembl
CA364306544
rs1167852802
66 E>K No ClinGen
gnomAD
CA3835169
rs756539319
67 E>G No ClinGen
ExAC
gnomAD
rs868835519
CA138382517
69 E>* No ClinGen
Ensembl
CA3835170
rs778384309
71 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1331709978
CA364306716
73 H>D No ClinGen
gnomAD
rs1583105760
CA364306780
75 A>V No ClinGen
Ensembl
rs1339444944
CA364306844
78 M>V No ClinGen
gnomAD
rs111999753
CA138382556
83 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs779706463
CA3835173
85 I>V No ClinGen
ExAC
gnomAD
TCGA novel 88 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835174
rs746589740
88 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1340754322
CA364307100
89 I>T No ClinGen
gnomAD
rs762877684
CA3835180
100 Y>H No ClinGen
ExAC
gnomAD
rs1386160036
CA364307772
106 K>E No ClinGen
gnomAD
CA3835199
rs749136337
111 D>G No ClinGen
ExAC
gnomAD
CA364307919
rs1322109064
112 N>D No ClinGen
gnomAD
TCGA novel 112 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835200
rs770831573
112 N>S No ClinGen
ExAC
gnomAD
rs538519804
CA3835202
116 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA364308041
rs1327269903
116 T>I No ClinGen
gnomAD
rs142993737
CA3835203
117 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1261054288
CA364308071
118 D>G No ClinGen
gnomAD
rs1266569848
CA364308141
121 R>P No ClinGen
gnomAD
rs140949908
CA138383174
126 G>V No ClinGen
Ensembl
rs754234475
CA3835207
134 T>I No ClinGen
ExAC
gnomAD
CA3835210
rs372141515
142 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 143 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364308620
rs1207696715
144 M>V No ClinGen
gnomAD
CA3835212
rs767062259
147 D>N No ClinGen
ExAC
gnomAD
CA3835213
rs767062259
147 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 167 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 168 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 174 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 179 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 179 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751558900
CA3835258
184 A>V No ClinGen
ExAC
gnomAD
rs755044991
CA3835259
188 R>G No ClinGen
ExAC
gnomAD
TCGA novel 188 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1582848
CA138388428
rs751926250
192 R>* Variant assessed as Somatic; impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1290539398
CA364311843
196 I>T No ClinGen
gnomAD
TCGA novel 197 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835261
rs748230177
198 I>V No ClinGen
ExAC
gnomAD
CA364311886
rs1222373145
200 K>E No ClinGen
gnomAD
CA138388441
rs200189568
202 R>G No ClinGen
1000Genomes
rs370695015
CA138388446
203 K>R No ClinGen
Ensembl
CA364311971
rs1250641919
206 R>G No ClinGen
TOPMed
CA3835262
rs770031602
207 G>E No ClinGen
ExAC
CA138388453
rs781761929
213 E>D No ClinGen
gnomAD
CA3835264
rs749621430
213 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs549734666
CA3835266
217 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364312067
rs549734666
217 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 219 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1244322990
CA364312092
219 K>T No ClinGen
gnomAD
rs1446753250 220 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 220 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140797988
CA3835267
221 A>T No ClinGen
ESP
ExAC
gnomAD
CA364312147
rs1198715873
224 F>L No ClinGen
gnomAD
TCGA novel 225 Y>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144670030
CA3835268
226 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776097166
CA3835269
227 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs776097166
CA3835270
227 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA364312199
rs764902934
228 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA3835271
rs764902934
228 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1337564982
CA364312323
233 Q>E No ClinGen
TOPMed
CA364312331
rs1561969930
RCV000678307
233 Q>R No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 234 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1189895969
CA364312351
234 A>V No ClinGen
gnomAD
CA3835273
rs762748890
236 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA364312374
rs1363562258
236 D>N No ClinGen
gnomAD
rs368546991
CA3835275
COSM1079786
237 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1407500176
CA364312404
237 A>V No ClinGen
gnomAD
rs1351016031
CA364312453
240 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1470067585
CA364312475
241 K>R No ClinGen
TOPMed
CA3835278
rs752794499
242 L>S No ClinGen
ExAC
gnomAD
rs1401968463
CA364312557
245 Q>* No ClinGen
gnomAD
CA364312584
rs1561969952
246 D>A No ClinGen
Ensembl
rs951406571
CA138388511
250 E>D No ClinGen
TOPMed
rs1222441974
CA364312650
250 E>K No ClinGen
TOPMed
gnomAD
rs778005707
CA3835280
251 L>P No ClinGen
ExAC
gnomAD
COSM232001
CA3835281
rs749488119
253 S>F Variant assessed as Somatic; 0.00028 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749488119
CA3835282
253 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3835292
rs774260829
254 E>K No ClinGen
ExAC
gnomAD
rs767477315
CA3835293
255 K>R No ClinGen
ExAC
gnomAD
TCGA novel 256 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767525637
CA3835294
257 G>V No ClinGen
ExAC
gnomAD
CA3835295
rs534942880
259 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1443758682
CA364313561
259 D>V No ClinGen
gnomAD
CA3835296
rs756163041
260 R>S No ClinGen
ExAC
gnomAD
TCGA novel 263 D>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 263 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835297
COSM1444838
rs764087079
264 K>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 269 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1451600946
CA364313838
274 D>N No ClinGen
gnomAD
rs746190030
CA3835301
276 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 277 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1452371295
CA364313938
279 I>V No ClinGen
gnomAD
CA138389513
rs1045453881
283 S>N No ClinGen
TOPMed
gnomAD
rs947625993
CA138389514
289 T>I No ClinGen
Ensembl
rs1231972458
CA364314371
300 P>L No ClinGen
TOPMed
rs1267589129
CA364314804
304 D>E No ClinGen
gnomAD
rs1196579392
CA364314794
304 D>H No ClinGen
gnomAD
rs753603218
CA138390926
305 A>T No ClinGen
Ensembl
CA3835331
RCV000918466
rs200087867
310 V>A No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA138390950
rs892126229
311 V>L No ClinGen
TOPMed
CA3835332
rs149525934
312 K>R No ClinGen
ESP
ExAC
rs373916286
CA3835334
316 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1022052815
CA138390977
317 S>R No ClinGen
TOPMed
gnomAD
CA3835335
rs750565964
319 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs11552843
CA138390991
320 A>T No ClinGen
Ensembl
CA3835337
rs144083420
321 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA138391002
rs941493029
321 R>H No ClinGen
Ensembl
rs755405339
CA3835339
322 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA364314995
rs751834925
322 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA3835338
rs751834925
322 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA364315021
rs1355708922
325 E>A No ClinGen
gnomAD
CA3835341
rs748222402
325 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1185280173
CA364315041
326 E>G No ClinGen
TOPMed
rs536765287
CA138391040
327 S>Y No ClinGen
1000Genomes
rs756763383
CA3835342
328 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1448545286
CA364315063
328 G>S No ClinGen
TOPMed
CA3835343
rs778564165
329 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA364315097
rs1326718530
330 T>K No ClinGen
TOPMed
CA364315104
rs1201026543
331 N>H No ClinGen
gnomAD
CA138391052
rs9381320
332 S>F No ClinGen
Ensembl
rs745430137
CA3835344
333 A>D No ClinGen
ExAC
gnomAD
rs745430137
CA364315126
333 A>V No ClinGen
ExAC
gnomAD
CA138391067
rs200890159
336 T>I No ClinGen
1000Genomes
CA364315267
rs1561971405
341 Y>C No ClinGen
Ensembl
rs1038853577
CA138391071
342 N>D No ClinGen
Ensembl
CA3835347
rs376004864
342 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768509617
CA3835348
343 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA364315310
rs1295369906
344 T>S No ClinGen
gnomAD
rs1051362293
CA138391084
345 N>K No ClinGen
Ensembl
CA364315358
rs1391065796
346 N>S No ClinGen
gnomAD
CA138391087
rs972004000
347 S>C No ClinGen
TOPMed
rs891353395
CA138391089
347 S>T No ClinGen
TOPMed
rs1006568146
CA138391093
348 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1243557682
CA364315432
351 R>I No ClinGen
gnomAD
rs148664123
CA3835350
354 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA364315518
rs1561971448
355 T>A No ClinGen
Ensembl
CA364315675
rs1187760070
361 R>I No ClinGen
TOPMed
CA364315754
rs1239672861
363 L>M No ClinGen
gnomAD
CA364315760
rs1441916334
363 L>P No ClinGen
gnomAD
rs1182044774
CA364317555
365 E>K No ClinGen
gnomAD
rs1361269966
CA364317566
366 A>V No ClinGen
gnomAD
rs1279558309
CA364317594
370 M>T No ClinGen
TOPMed
gnomAD
rs771059938
CA3835371
370 M>V No ClinGen
ExAC
gnomAD
rs944435326
CA138396992
371 A>V No ClinGen
TOPMed
gnomAD
CA3835372
rs774373300
372 L>F No ClinGen
ExAC
gnomAD
rs1313131188
CA364317631
376 D>H No ClinGen
gnomAD
CA138397010
rs906217681
383 L>P No ClinGen
gnomAD
rs1482032900
CA364317767
385 T>I No ClinGen
TOPMed
rs1215969616
CA364317776
386 P>A No ClinGen
TOPMed
TCGA novel 387 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364317816
rs1426212625
388 H>R No ClinGen
gnomAD
rs765907562
CA3835380
390 S>R No ClinGen
ExAC
gnomAD
TCGA novel 393 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1344477212
CA364317931
394 G>D No ClinGen
gnomAD
rs1156675653
CA364317926
394 G>R No ClinGen
gnomAD
CA364317945
rs754633653
395 V>I No ClinGen
ExAC
gnomAD
CA3835382
rs754633653
395 V>L No ClinGen
ExAC
gnomAD
rs780860959
CA3835383
397 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1343064820
CA364317993
398 Q>R No ClinGen
gnomAD
COSM1568339
rs1561974668
CA364318004
399 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
COSM25654
rs370966869
CA3835384
399 R>Q kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1385473918
CA364318039
401 V>D No ClinGen
TOPMed
CA3835385
rs755922645
401 V>I No ClinGen
ExAC
gnomAD
CA364318048
rs777633635
402 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3835386
rs777633635
402 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3835387
rs749257724
403 Q>E No ClinGen
ExAC
gnomAD
CA3835388
rs770842657
403 Q>P No ClinGen
ExAC
CA3835389
rs183206100
404 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1489873597
CA364318192
408 V>F No ClinGen
gnomAD
CA364318257
rs1247441346
412 P>A No ClinGen
gnomAD
CA364319286
COSM1697300
rs1340054148
416 P>L skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA138398696
rs954679788
416 P>S No ClinGen
TOPMed
rs774713343 417 S>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA364319313
rs1344291081
418 N>D No ClinGen
TOPMed
CA138398702
rs1035094207
419 G>V No ClinGen
TOPMed
CA138398712
rs994109638
420 A>S No ClinGen
TOPMed
rs1254684610
CA364319386
422 G>R No ClinGen
TOPMed
rs369226051
CA138398716
423 L>Q No ClinGen
Ensembl
CA3835414
rs777030695
425 P>H No ClinGen
ExAC
gnomAD
rs1415367763
CA364319464
425 P>S No ClinGen
gnomAD
rs747924598
CA364319477
426 R>L No ClinGen
TOPMed
gnomAD
rs747924598
CA138398731
426 R>Q No ClinGen
TOPMed
gnomAD
CA3835416
rs762122155
427 S>C No ClinGen
ExAC
gnomAD
CA3835415
rs762122155
427 S>G No ClinGen
ExAC
gnomAD
CA364319488
rs1241772285
428 G>R No ClinGen
TOPMed
rs758985772
CA3835418
430 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1333808089
CA364319538
430 T>S No ClinGen
gnomAD
CA364319542
rs758985772
430 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs767022374
CA3835419
431 P>L No ClinGen
ExAC
gnomAD
rs145364541
CA3835420
434 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3835421
rs760310212
437 S>C No ClinGen
ExAC
gnomAD
TCGA novel 437 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364319670
rs1272562134
438 T>A No ClinGen
TOPMed
gnomAD
CA3835423
rs367907576
438 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151023284
CA3835424
439 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3835426
rs750389359
440 G>C No ClinGen
ExAC
gnomAD
rs1017845389
CA138398816
440 G>D No ClinGen
TOPMed
rs750389359
CA3835427
440 G>R No ClinGen
ExAC
gnomAD
rs267601050
CA138398820
441 R>G No ClinGen
Ensembl
rs747133163
CA3835429
COSM1546754
444 L>F lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs768966403
CA3835430
445 R>Q No ClinGen
ExAC
gnomAD
CA364319789
rs1561975635
446 D>G No ClinGen
Ensembl
CA364319776
rs1250020449
446 D>N No ClinGen
gnomAD
rs1360963498
CA364319842
449 N>D No ClinGen
TOPMed
rs781298485
CA3835431
449 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs781298485
CA364319847
449 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA364319863
rs1173226572
450 I>V No ClinGen
gnomAD
CA364319878
rs1404328024
451 N>D No ClinGen
gnomAD
rs770063828
CA3835433
453 E>K No ClinGen
ExAC
gnomAD
rs1163670928
CA364319944
455 G>V No ClinGen
TOPMed
CA3835434
rs571743027
456 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364319950
rs571743027
456 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3835435
rs141102915
457 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364319971
rs1173111517
457 A>V No ClinGen
TOPMed
CA364319983
rs1298525575
458 D>E No ClinGen
TOPMed
rs1429483271
CA364319980
458 D>G No ClinGen
TOPMed
VAR_050181
CA3835436
rs11572006
459 Y>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs777700012
CA3835437
460 S>G No ClinGen
ExAC
gnomAD
rs745967167
CA364320036
462 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3835439
rs745967167
462 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 465 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA138398873
rs764935568
465 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3835442
rs764935568
465 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA364320146
rs1191785102
467 Q>L No ClinGen
gnomAD
CA364320149
rs1191785102
467 Q>P No ClinGen
gnomAD
CA364320173
rs1263313477
468 M>V No ClinGen
gnomAD
rs1357639172
CA364320468
469 E>G No ClinGen
TOPMed
rs964125850
COSM1238468
CA138399673
470 R>G oesophagus [Cosmic] No ClinGen
cosmic curated
Ensembl
rs748413122
CA3835462
473 R>G No ClinGen
ExAC
gnomAD
CA3835463
rs773109480
473 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 474 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766366590
CA3835465
477 R>C No ClinGen
ExAC
gnomAD
rs751554610
CA3835466
477 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 478 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755014998
CA364320741
480 L>F No ClinGen
ExAC
gnomAD
rs767493880
CA3835468
481 L>F No ClinGen
ExAC
gnomAD
CA138399712
rs933400289
485 A>T No ClinGen
TOPMed
TCGA novel 487 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA138399714
rs75227257
490 F>S No ClinGen
Ensembl
CA3835470
rs756271993
493 V>A No ClinGen
ExAC
gnomAD
rs936630738
CA138399737
498 A>T No ClinGen
Ensembl
rs749614395
CA3835472
499 E>G No ClinGen
ExAC
gnomAD
CA138399761
rs1052320295
499 E>K No ClinGen
Ensembl
rs913252069
CA138399765
505 R>C No ClinGen
Ensembl
CA3835475
rs746366391
505 R>H No ClinGen
ExAC
gnomAD
CA364321425
rs1389918616
507 I>M No ClinGen
TOPMed
CA364321418
rs1178484806
507 I>T No ClinGen
gnomAD
TCGA novel 508 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835476
rs772692249
508 D>G No ClinGen
ExAC
gnomAD
CA364321471
rs1442111654
509 D>G No ClinGen
gnomAD
CA364321489
rs775979730
510 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs775979730
CA3835478
510 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs775979730
CA3835477
510 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA364321499
rs1367932403
511 Y>N No ClinGen
gnomAD
CA364321539
rs1187496918
512 I>T No ClinGen
TOPMed
rs1458517843
CA364321530
512 I>V No ClinGen
TOPMed
gnomAD
CA3835479
rs769530734
513 E>K No ClinGen
ExAC
gnomAD
CA364321594
COSM21707
rs1447155937
514 D>H lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA138399786
rs773017414
515 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs773017414
CA3835480
515 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1331801914
CA364321673
518 V>L No ClinGen
gnomAD
rs1198909844
CA364321683
519 D>H No ClinGen
TOPMed
CA364321704
rs766278837
COSM212611
520 A>P breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3835482
rs766278837
520 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3835483
rs376683934
521 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145762260
CA3835484
521 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1175098497
CA364322728
524 A>G No ClinGen
gnomAD
CA3835512
rs764778238
526 R>Q No ClinGen
ExAC
gnomAD
CA3835513
rs758812906
527 D>E No ClinGen
ExAC
gnomAD
rs377229940
CA138400416
528 A>S No ClinGen
Ensembl
rs1287085358
CA364322809
528 A>V No ClinGen
gnomAD
CA364322830
rs1055398152
529 E>D No ClinGen
Ensembl
CA364322826
rs1479602426
529 E>G No ClinGen
gnomAD
rs371164669
CA3835514
530 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371164669
CA3835515
530 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs550214338
CA3835517
530 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3835516
rs550214338
530 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs550214338
CA138400429
530 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA3835518
rs374722205
536 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs770678225
CA3835519
537 M>I No ClinGen
ExAC
gnomAD
CA364322953
rs1301039623
538 H>R No ClinGen
gnomAD
rs778663659
CA3835520
541 V>A No ClinGen
ExAC
gnomAD
CA138400456
rs745604396
542 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA3835521
rs745604396
542 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 544 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487997879
CA364323118
548 P>S No ClinGen
gnomAD
TCGA novel 549 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835522
rs771915962
550 E>K No ClinGen
ExAC
gnomAD
rs1379545900
CA364323228
552 N>D No ClinGen
gnomAD
CA364323233
rs1236268269
552 N>S No ClinGen
gnomAD
rs1406779852
CA364323283
556 L>V No ClinGen
TOPMed
rs1413952848
CA364323353
558 P>R No ClinGen
TOPMed
CA364323341
rs1561976848
558 P>S No ClinGen
Ensembl
rs989921225
CA138400597
561 V>A No ClinGen
TOPMed
rs1272062097
CA364323397
561 V>I No ClinGen
Ensembl
rs753363100
CA3835539
563 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753363100
CA138400607
563 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 569 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1351330069
CA364323729
571 S>G No ClinGen
gnomAD
CA138400614
rs867829053
579 M>R No ClinGen
Ensembl
CA138400613
rs1015575416
579 M>V No ClinGen
gnomAD
CA364324071
rs1312148846
582 M>I No ClinGen
gnomAD
CA364324041
rs1448209045
582 M>V No ClinGen
TOPMed
gnomAD
CA364324265
rs1354319509
590 H>D No ClinGen
TOPMed
gnomAD
CA364324259
rs1354319509
590 H>Y No ClinGen
TOPMed
gnomAD
rs61753598
CA3835542
591 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3835543
rs758055277
594 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758055277
CA364324390
594 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758055277
CA3835544
594 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs746845825
CA3835545
597 N>K No ClinGen
ExAC
gnomAD
CA364324444
rs1237371802
597 N>S No ClinGen
gnomAD
rs758657978
CA138400631
600 G>D No ClinGen
gnomAD
rs768538161
CA3835546
600 G>R No ClinGen
ExAC
gnomAD
TCGA novel 600 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835548
rs748166637
603 V>A No ClinGen
ExAC
gnomAD
CA3835550
rs773228211
604 G>A No ClinGen
ExAC
gnomAD
rs773228211
CA138400648
604 G>V No ClinGen
ExAC
gnomAD
CA364324608
rs1168932777
605 F>V No ClinGen
gnomAD
CA3835551
rs763221446
606 G>V No ClinGen
ExAC
CA3835552
rs766556577
608 N>D No ClinGen
ExAC
gnomAD
rs1466521785
CA364324682
608 N>S No ClinGen
TOPMed
gnomAD
CA364324696
rs1331452940
609 N>D No ClinGen
gnomAD
CA3835553
rs145253281
610 S>L No ClinGen
ESP
ExAC
CA3835556
rs753273895
612 H>P No ClinGen
ExAC
gnomAD
CA364324776
rs1381560853
612 H>Q No ClinGen
gnomAD
rs768092543
CA3835555
612 H>Y No ClinGen
ExAC
gnomAD
CA364324847
rs1318323851
617 E>K No ClinGen
gnomAD
CA364324880
rs777791487
618 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA3835558
rs777791487
618 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs866104924
CA138400663
620 P>L No ClinGen
Ensembl
CA364324923
rs1452697005
620 P>S No ClinGen
TOPMed
rs758049414
CA3835560
621 Y>F No ClinGen
ExAC
gnomAD
rs150583791
CA3835561
623 K>E No ClinGen
ESP
ExAC
gnomAD
CA364325771
rs1361736177
625 S>T No ClinGen
TOPMed
rs144082693
CA138400670
626 K>E No ClinGen
1000Genomes
CA364325836
rs1157089269
629 L>M No ClinGen
gnomAD
CA3835563
rs754781297
631 K>E No ClinGen
ExAC
TOPMed
CA3835583
rs752533648
633 Q>E No ClinGen
ExAC
gnomAD
rs377193602
CA138402073
634 D>N No ClinGen
ESP
CA3835584
rs138610020
637 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1465903313
CA364326519
640 M>T No ClinGen
TOPMed
CA3835585
rs777605470
641 E>K No ClinGen
ExAC
gnomAD
CA3835587
rs770932664
642 V>L No ClinGen
ExAC
gnomAD
rs779214308
CA3835588
644 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 646 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs895647610
CA138402085
646 G>R No ClinGen
TOPMed
gnomAD
CA138402086
rs868049942
648 S>N No ClinGen
Ensembl
rs1047894709
CA138402088
654 S>G No ClinGen
TOPMed
gnomAD
TCGA novel 660 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA138402098
rs372359913
662 E>D No ClinGen
ESP
rs760987818
CA3835592
665 Y>C No ClinGen
ExAC
gnomAD
CA138402103
rs949951074
665 Y>D No ClinGen
TOPMed
rs769155730
CA3835593
666 S>R No ClinGen
ExAC
gnomAD
rs887950191
CA138402111
670 Y>H No ClinGen
TOPMed
CA3835595
rs374330428
671 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765864584
CA3835596
RCV000782186
672 P>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs767195793
CA3835599
676 R>C No ClinGen
ExAC
gnomAD
CA364327100
rs1438410834
676 R>H No ClinGen
gnomAD
rs767195793
CA364327096
676 R>S No ClinGen
ExAC
gnomAD
TCGA novel 678 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364327129
rs139979361
681 N>I No ClinGen
ESP
ExAC
gnomAD
rs139979361
CA3835600
681 N>S No ClinGen
ESP
ExAC
gnomAD
rs1202769891
CA364327133
682 L>M No ClinGen
TOPMed
CA364327145
rs1380966290
684 S>G No ClinGen
TOPMed
gnomAD
rs1581658013
CA364327173
687 D>G No ClinGen
Ensembl
CA3835601
rs755886747
694 K>R No ClinGen
ExAC
gnomAD
COSM1193419
rs1480469790
CA364327238
697 E>K lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1561982381
CA364329415
698 I>M No ClinGen
Ensembl
rs189633452
CA138408503
698 I>V No ClinGen
1000Genomes
CA138408508
rs202195814
699 N>D No ClinGen
1000Genomes
CA364329448
rs758564138
701 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs780255438
CA364329449
701 G>D No ClinGen
ExAC
gnomAD
CA3835626
rs758564138
701 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs780255438
CA3835627
701 G>V No ClinGen
ExAC
gnomAD
CA364329491
rs1190308663
704 T>M No ClinGen
gnomAD
rs781384565
CA3835630
709 R>S No ClinGen
ExAC
gnomAD
TCGA novel 712 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835631
rs748582815
713 M>I No ClinGen
ExAC
gnomAD
rs1464514037
CA364329626
715 K>R No ClinGen
gnomAD
rs770243186
CA3835632
716 K>T No ClinGen
ExAC
gnomAD
rs773732850
CA3835633
717 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA364329727
CA3835634
rs11572048
720 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1275910985
CA364329735
721 L>F No ClinGen
gnomAD
rs368936995
CA3835636
727 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364329838
rs1296778518
727 R>H No ClinGen
gnomAD
rs776260156
CA3835639
729 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364329916
TCGA novel
rs1213113999
732 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
rs1264637253
CA364329906
732 M>V No ClinGen
TOPMed
rs887017008
CA138408587
736 N>D No ClinGen
Ensembl
CA364329979
rs1261232391
736 N>S No ClinGen
gnomAD
CA3835642
rs750389234
737 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 739 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA138408593
rs781104127
740 D>E No ClinGen
Ensembl
rs142471993
CA3835643
742 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364330116
rs1469096403
744 Q>L No ClinGen
Ensembl
rs923673813
CA138408605
745 A>S No ClinGen
TOPMed
gnomAD
CA3835646
rs755120249
746 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA364330207
rs1295835040
750 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM451568
CA3835647
rs202064406
750 R>H Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364330265
rs1581665055
754 E>V No ClinGen
Ensembl
CA364330279
rs1290315090
755 L>F No ClinGen
gnomAD
CA364330291
rs1316945256
756 K>E No ClinGen
gnomAD
CA364330302
rs1364503093
757 K>Q No ClinGen
gnomAD
CA3835649
rs756487018
758 H>L No ClinGen
ExAC
gnomAD
rs1301103652
CA364330335
758 H>Q No ClinGen
gnomAD
CA364330327
rs756487018
758 H>R No ClinGen
ExAC
gnomAD
TCGA novel 761 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1349248000
CA364330378
761 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3835650
rs778188821
762 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364330396
rs151321742
763 I>L No ClinGen
ESP
TOPMed
gnomAD
CA138408623
rs151321742
763 I>V No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 764 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216747021
CA364330433
COSM3394225
765 R>Q Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1353133193
CA364330427
765 R>W No ClinGen
gnomAD
CA3835651
rs749791968
766 R>K No ClinGen
ExAC
gnomAD
CA364330582
rs1176686578
769 C>R No ClinGen
gnomAD
CA3835667
rs759681849
769 C>Y No ClinGen
ExAC
gnomAD
CA364330606
rs1561982739
771 K>Q No ClinGen
Ensembl
CA364330630
rs1178442339
772 E>G No ClinGen
gnomAD
CA138409069
rs550567686
774 V>G No ClinGen
1000Genomes
CA3835669
rs752921987
776 R>Q No ClinGen
ExAC
gnomAD
CA3835670
rs756396867
778 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA364330795
rs1463401924
782 K>R No ClinGen
gnomAD
CA3835673
rs757677289
787 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 787 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364330910
rs1442951294
788 Y>C No ClinGen
gnomAD
TCGA novel 792 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3835675
rs746457538
793 L>P No ClinGen
ExAC
gnomAD
CA3835676
rs768213628
795 K>N No ClinGen
ExAC
gnomAD
CA364331070
rs1294195804
797 T>S No ClinGen
gnomAD
rs1561982783
CA364331085
798 L>S No ClinGen
Ensembl
rs1283635945
CA364331102
799 K>R No ClinGen
TOPMed
gnomAD
CA364331128
rs1296040893
801 K>Q No ClinGen
TOPMed

1 associated diseases with Q99459

Without disease ID

2 regional properties for Q99459

Type Name Position InterPro Accession
domain Calcineurin-like phosphoesterase domain, ApaH type 88 - 317 IPR004843
domain Cdc1-like, metallophosphatase domain 91 - 347 IPR041834

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus speckle
  • Cytoplasm
  • May shuttle between cytoplasm and nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 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.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
Prp19 complex A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p.
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.
U2-type catalytic step 2 spliceosome A spliceosomal complex that contains the U2, U5 and U6 snRNPs 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 U2, U5 and U6 snRNPs.

7 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).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
identical protein binding Binding to an identical protein or proteins.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
WD40-repeat domain binding Binding to a WD40 repeat domain of a protein. The WD40 repeat is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Several of these repeats are combined to form a type of protein domain called the WD domain.

6 GO annotations of biological process

Name Definition
cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
DNA damage checkpoint signaling A signal transduction process that contributes to a DNA damage checkpoint.
DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
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.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2KJC1 CDC5L Cell division cycle 5-like protein Bos taurus (Bovine) PR
Q6A068 Cdc5l Cell division cycle 5-like protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MPRIMIKGGV WRNTEDEILK AAVMKYGKNQ WSRIASLLHR KSAKQCKARW YEWLDPSIKK
70 80 90 100 110 120
TEWSREEEEK LLHLAKLMPT QWRTIAPIIG RTAAQCLEHY EFLLDKAAQR DNEEETTDDP
130 140 150 160 170 180
RKLKPGEIDP NPETKPARPD PIDMDEDELE MLSEARARLA NTQGKKAKRK AREKQLEEAR
190 200 210 220 230 240
RLAALQKRRE LRAAGIEIQK KRKRKRGVDY NAEIPFEKKP ALGFYDTSEE NYQALDADFR
250 260 270 280 290 300
KLRQQDLDGE LRSEKEGRDR KKDKQHLKRK KESDLPSAIL QTSGVSEFTK KRSKLVLPAP
310 320 330 340 350 360
QISDAELQEV VKVGQASEIA RQTAEESGIT NSASSTLLSE YNVTNNSVAL RTPRTPASQD
370 380 390 400 410 420
RILQEAQNLM ALTNVDTPLK GGLNTPLHES DFSGVTPQRQ VVQTPNTVLS TPFRTPSNGA
430 440 450 460 470 480
EGLTPRSGTT PKPVINSTPG RTPLRDKLNI NPEDGMADYS DPSYVKQMER ESREHLRLGL
490 500 510 520 530 540
LGLPAPKNDF EIVLPENAEK ELEEREIDDT YIEDAADVDA RKQAIRDAER VKEMKRMHKA
550 560 570 580 590 600
VQKDLPRPSE VNETILRPLN VEPPLTDLQK SEELIKKEMI TMLHYDLLHH PYEPSGNKKG
610 620 630 640 650 660
KTVGFGTNNS EHITYLEHNP YEKFSKEELK KAQDVLVQEM EVVKQGMSHG ELSSEAYNQV
670 680 690 700 710 720
WEECYSQVLY LPGQSRYTRA NLASKKDRIE SLEKRLEINR GHMTTEAKRA AKMEKKMKIL
730 740 750 760 770 780
LGGYQSRAMG LMKQLNDLWD QIEQAHLELR TFEELKKHED SAIPRRLECL KEDVQRQQER
790 800
EKELQHRYAD LLLEKETLKS KF