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

41 structures for O75909

Entry ID Method Resolution Chain Position Source
2I53 X-ray 150 A A 11-267 PDB
4CXA X-ray 315 A B/D 11-267 PDB
4NST X-ray 220 A B/D 1-267 PDB
4UN0 X-ray 315 A A/B 11-267 PDB
5ACB X-ray 270 A A/B 11-267 PDB
5EFQ X-ray 200 A B/D 1-267 PDB
6B3E X-ray 306 A B/D 1-267 PDB
6CKX X-ray 280 A B/D 1-267 PDB
6TD3 X-ray 346 A C/F/I 1-267 PDB
7NXJ X-ray 236 A B/D 1-267 PDB
7NXK X-ray 300 A B/D 1-267 PDB
8BU1 X-ray 298 A C/F/I 1-267 PDB
8BU2 X-ray 313 A C/F/I 1-267 PDB
8BU3 X-ray 342 A C/F/I 1-267 PDB
8BU4 X-ray 309 A C/F/I 1-267 PDB
8BU5 X-ray 313 A C/F/I 1-267 PDB
8BU6 X-ray 345 A C/F/I 1-267 PDB
8BU7 X-ray 325 A C/F/I 1-267 PDB
8BU9 X-ray 351 A C/F/I 1-267 PDB
8BUA X-ray 319 A C/F/I 1-267 PDB
8BUB X-ray 342 A C/F/I 1-267 PDB
8BUC X-ray 385 A C/F/I 1-267 PDB
8BUD X-ray 320 A C/F/I 1-267 PDB
8BUE X-ray 325 A C/F/I 1-267 PDB
8BUF X-ray 330 A C/F/I 1-267 PDB
8BUG X-ray 353 A C/F/I 1-267 PDB
8BUH X-ray 379 A C/F/I 1-267 PDB
8BUI X-ray 350 A C/F/I 1-267 PDB
8BUJ X-ray 362 A C/F/I 1-267 PDB
8BUK X-ray 341 A C/F/I 1-267 PDB
8BUL X-ray 340 A C/F/I 1-267 PDB
8BUM X-ray 336 A C/F/I 1-267 PDB
8BUN X-ray 308 A C/F/I 1-267 PDB
8BUO X-ray 358 A C/F/I 1-267 PDB
8BUP X-ray 341 A C/F/I 1-267 PDB
8BUQ X-ray 320 A C/F/I 1-267 PDB
8BUR X-ray 364 A C/F/I 1-267 PDB
8BUS X-ray 326 A C/F/I 1-267 PDB
8BUT X-ray 325 A C/F/I 1-267 PDB
8P81 X-ray 268 A B 1-267 PDB
AF-O75909-F1 Predicted AlphaFoldDB

327 variants for O75909

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_081570
RCV000710289
rs1566748800
CA390942452
111 K>E Intellectual developmental disorder with hypertelorism and distinctive facies IDDHDF; contrary to the wild-type protein, does not rescue morpholino knockdown phenotype in zebrafish [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001291721
CA7340685
rs750789680
246 V>I Intellectual developmental disorder with hypertelorism and distinctive facies [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA390941362
rs1340506299
9 S>G No ClinGen
TOPMed
rs1475416350
CA390941366
9 S>T No ClinGen
gnomAD
rs890479145
CA266133239
10 P>T No ClinGen
TOPMed
gnomAD
rs1002256892
CA266133242
12 V>G No ClinGen
Ensembl
rs1595307990
CA390941390
12 V>I No ClinGen
Ensembl
TCGA novel 13 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs538109875
CA7340549
15 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA390941434
rs1304131376
16 N>D No ClinGen
gnomAD
CA7340550
rs781186631
17 L>P No ClinGen
ExAC
gnomAD
rs1203186888
CA390941528
22 P>L No ClinGen
gnomAD
rs749217487
CA7340551
23 C>G No ClinGen
ExAC
gnomAD
rs1245373903
CA390941560
25 Y>C No ClinGen
gnomAD
rs1366612744
CA390941565
26 W>G No ClinGen
TOPMed
CA390941617
rs1413745510
32 A>V No ClinGen
gnomAD
rs1173996260
CA390941622
33 H>L No ClinGen
gnomAD
TCGA novel 33 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 35 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 35 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778610231
CA7340553
39 E>G No ClinGen
ExAC
gnomAD
rs1455191065
CA390941665
40 G>R No ClinGen
gnomAD
CA266133250
rs964869039
46 E>K No ClinGen
TOPMed
gnomAD
rs958424865
CA266133254
48 R>Q No ClinGen
Ensembl
rs1377006286
CA390941716
48 R>W No ClinGen
gnomAD
CA390941730
rs1326488496
50 R>C No ClinGen
TOPMed
gnomAD
rs1226198377
CA390941736
51 R>Q No ClinGen
gnomAD
rs1269695112
CA390941739
52 E>K No ClinGen
gnomAD
rs749729510
CA266133257
54 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1288054162
CA390941762
55 R>Q No ClinGen
TOPMed
gnomAD
rs1255369135
CA390941815
63 R>H No ClinGen
gnomAD
TCGA novel 66 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA266133263
rs200721397
66 L>Q No ClinGen
1000Genomes
TCGA novel 69 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1419720129
CA390941877
71 L>M No ClinGen
gnomAD
rs868803509
CA266133378
72 A>T No ClinGen
Ensembl
CA390941891
rs1249577631
73 T>S No ClinGen
Ensembl
CA7340582
rs552001718
76 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1330833967
CA390941938
80 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs774653559
CA7340583
81 F>V No ClinGen
ExAC
gnomAD
CA390941960
rs1402453647
83 M>R No ClinGen
gnomAD
rs767771543
CA7340585
88 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1479461683
CA390942283
98 C>Y No ClinGen
gnomAD
CA266133756
rs868692667
105 K>E No ClinGen
Ensembl
rs1158034053
CA390942444
110 P>Q No ClinGen
gnomAD
CA390942537
rs1191649509
118 K>R No ClinGen
gnomAD
CA390942542
rs1214276402
119 T>A No ClinGen
TOPMed
rs935043382
CA266133758
121 R>C No ClinGen
Ensembl
CA7340614
rs190257611
121 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390942591
rs1417190597
125 N>S No ClinGen
Ensembl
CA7340617
rs368952076
126 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1394333927
CA390942615
127 V>I No ClinGen
TOPMed
rs1470435323
CA390942922
151 I>V No ClinGen
TOPMed
rs868057477
CA266134552
154 D>Y No ClinGen
Ensembl
CA266134553
rs868868559
160 P>Q No ClinGen
Ensembl
rs1443796779
CA390943034
166 K>N No ClinGen
gnomAD
CA7340633
rs767370737
167 Y>H No ClinGen
ExAC
gnomAD
rs746022344
CA7340647
177 K>R No ClinGen
ExAC
gnomAD
rs982842489
CA266134616
191 D>N No ClinGen
TOPMed
rs1333281843
CA390943298
200 Q>R No ClinGen
gnomAD
CA390943308
rs1368710353
201 W>* No ClinGen
TOPMed
gnomAD
CA390943312
rs1294516729
202 E>* No ClinGen
TOPMed
TCGA novel 206 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390943377
rs1475602740
211 M>I No ClinGen
gnomAD
CA266134694
rs962279113
212 Y>D No ClinGen
Ensembl
CA7340674
rs760617667
214 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7340675
rs370608733
216 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390943429
rs1200919119
219 K>I No ClinGen
gnomAD
CA390943439
rs1468444980
220 F>L No ClinGen
gnomAD
rs1251614558
CA390943436
220 F>S No ClinGen
gnomAD
CA7340676
rs776386794
228 K>T No ClinGen
ExAC
gnomAD
CA7340677
rs572139668
230 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA390943517
rs1165780200
231 Y>C No ClinGen
gnomAD
CA390943584
rs1267750574
240 Q>E No ClinGen
TOPMed
CA7340680
rs762383866
243 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767256145
CA7340683
245 D>N No ClinGen
ExAC
gnomAD
rs767256145
CA390943616
245 D>Y No ClinGen
ExAC
gnomAD
CA390943632
rs1277670436
247 L>S No ClinGen
TOPMed
CA390943829
rs1325330474
267 H>Y No ClinGen
TOPMed
CA266134730
rs372216197
269 T>N No ClinGen
ESP
CA390943845
rs1595317080
269 T>P No ClinGen
Ensembl
CA390943856
rs1385735105
271 H>N No ClinGen
TOPMed
gnomAD
rs1375078716
CA390943909
278 S>C No ClinGen
gnomAD
rs1375078716
CA390943908
278 S>Y No ClinGen
gnomAD
CA7340715
rs748943823
283 P>A No ClinGen
ExAC
gnomAD
rs768325984
CA7340716
284 Q>E No ClinGen
ExAC
gnomAD
rs774074339
CA7340717
285 V>M No ClinGen
ExAC
gnomAD
CA7340718
rs200034824
286 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 286 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA266134732
rs372907456
289 Q>* No ClinGen
ESP
CA7340720
rs773882638
290 Q>E No ClinGen
ExAC
gnomAD
rs376026947
CA7340721
293 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs935270794
CA266134733
294 S>C No ClinGen
TOPMed
gnomAD
rs754196878
CA7340723
297 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1380915763
CA390944032
298 E>K No ClinGen
gnomAD
rs1319314451
CA390944041
299 P>A No ClinGen
TOPMed
CA390944048
rs1595317264
300 S>P No ClinGen
Ensembl
CA7340726
rs752858323
302 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA266134734
rs931964755
302 P>S No ClinGen
TOPMed
gnomAD
CA390944093
rs1595317306
306 D>A No ClinGen
Ensembl
CA390944094
rs1172393068
306 D>E No ClinGen
TOPMed
gnomAD
rs758477791
CA7340727
307 P>S No ClinGen
ExAC
gnomAD
rs1595317346
CA390944115
309 Q>H No ClinGen
Ensembl
rs534989573
CA7340731
312 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390944143
rs1376395802
313 Q>H No ClinGen
gnomAD
CA390944150
rs1379776671
314 Q>H No ClinGen
gnomAD
CA390944148
rs1330059608
314 Q>P No ClinGen
gnomAD
rs1330308822
CA390944161
316 P>A No ClinGen
TOPMed
CA7340733
rs200877327
318 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749107194
CA7340734
318 Q>H No ClinGen
ExAC
gnomAD
rs1460094258
CA390944180
319 Q>E No ClinGen
TOPMed
CA390944181
rs1296820172
319 Q>R No ClinGen
TOPMed
gnomAD
rs1346574897
CA390944193
321 K>E No ClinGen
gnomAD
rs1595317442
CA390944206
322 K>N No ClinGen
Ensembl
rs751012933
CA7340737
325 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs778725600
CA7340736
325 P>S No ClinGen
ExAC
gnomAD
rs771726550
CA7340738
331 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761124604
CA7340740
332 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1191788942
CA390944265
332 Q>K No ClinGen
gnomAD
CA7340741
rs771462544
333 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA266134735
rs200503921
334 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7340742
rs200503921
334 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759957278
CA7340743
335 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752948207
CA7340745
337 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs752948207
CA266134736
337 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs767434647
CA390944407
338 V>A No ClinGen
ExAC
gnomAD
rs767434647
CA7340768
338 V>D No ClinGen
ExAC
gnomAD
CA266134824
rs867171281
339 V>F No ClinGen
gnomAD
CA390944410
rs867171281
339 V>I No ClinGen
gnomAD
TCGA novel 340 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868099511
CA266134825
343 E>* No ClinGen
Ensembl
CA266134826
rs934877498
343 E>G No ClinGen
gnomAD
CA390944500
rs1384731263
346 K>Q No ClinGen
gnomAD
rs753831877
CA7340769
346 K>T No ClinGen
ExAC
gnomAD
CA266134828
rs1052124570
347 A>V No ClinGen
Ensembl
rs867095987
CA266134829
348 A>E No ClinGen
Ensembl
CA266134830
rs867531582
349 E>* No ClinGen
Ensembl
CA390944567
rs1324333622
350 P>S No ClinGen
TOPMed
gnomAD
CA7340784
rs775111606
351 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA390944573
rs1307601966
351 P>S No ClinGen
TOPMed
CA7340785
rs749646615
352 P>L No ClinGen
ExAC
gnomAD
rs1428836044
CA390944578
352 P>S No ClinGen
gnomAD
CA390944586
rs1212784508
353 P>L No ClinGen
TOPMed
rs1220922392
CA390944619
358 I>T No ClinGen
gnomAD
CA7340786
rs768938736
358 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs774643695
CA7340787
360 T>N No ClinGen
ExAC
TOPMed
CA7340789
COSM959484
rs532436153
361 T>A Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA390944637
rs901901957
361 T>I No ClinGen
TOPMed
gnomAD
CA7340790
rs532436153
361 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA266135209
rs901901957
361 T>S No ClinGen
TOPMed
gnomAD
rs1301552792
CA390944640
362 H>Y No ClinGen
TOPMed
CA390944646
rs1289919737
363 P>S No ClinGen
gnomAD
CA7340791
COSM959485
rs759607767
364 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752617499
CA7340793
368 A>V No ClinGen
ExAC
gnomAD
rs1595330668
CA390944722
373 D>A No ClinGen
Ensembl
rs779486624
CA266135578
374 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs779486624
CA7340819
374 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7340818
rs755631919
374 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs199586655
CA266135579
375 K>R No ClinGen
1000Genomes
rs1052057347
CA266135581
376 P>L No ClinGen
Ensembl
CA266135580
rs1052057347
376 P>R No ClinGen
Ensembl
rs1156717530
CA390944747
378 L>V No ClinGen
TOPMed
rs1258553086
CA390944756
379 A>D No ClinGen
TOPMed
CA266135582
rs912563511
379 A>T No ClinGen
TOPMed
gnomAD
rs754369845
CA7340820
380 A>T No ClinGen
ExAC
gnomAD
CA390944772
rs1307853777
382 L>S No ClinGen
gnomAD
rs1353830668
CA390944775
383 G>S No ClinGen
gnomAD
rs1241798953
CA390944789
385 A>T No ClinGen
gnomAD
rs755459069
CA7340821
387 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390944805
rs1344031784
387 P>S No ClinGen
gnomAD
CA390944810
rs1485386934
388 P>A No ClinGen
TOPMed
rs779396416
CA7340822
388 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390944816
rs1238813636
389 G>D No ClinGen
gnomAD
rs1441637129
CA390944820
390 P>A No ClinGen
gnomAD
CA390944828
rs1196940660
391 V>E No ClinGen
gnomAD
CA266135585
rs899052490
392 D>N No ClinGen
Ensembl
rs1595330814
CA390944852
395 D>A No ClinGen
Ensembl
CA266135586
rs993472154
395 D>N No ClinGen
Ensembl
rs772417001
CA7340824
396 L>F No ClinGen
ExAC
gnomAD
CA390944869
rs1174724135
398 K>E No ClinGen
gnomAD
rs1332648804
CA390944897
402 P>T No ClinGen
gnomAD
rs747181950
CA390944908
403 P>A No ClinGen
ExAC
gnomAD
CA7340826
rs747181950
403 P>T No ClinGen
ExAC
gnomAD
CA7340830
rs771166710
405 A>G No ClinGen
ExAC
gnomAD
CA7340833
rs867004709
406 H>P No ClinGen
TOPMed
gnomAD
CA7340837
rs369022783
407 P>L No ClinGen
ESP
ExAC
TOPMed
CA7340838
rs369022783
407 P>Q No ClinGen
ESP
ExAC
TOPMed
rs1400046688
CA390944975
408 A>G No ClinGen
TOPMed
CA390944977
rs1400046688
408 A>V No ClinGen
TOPMed
rs761515450
CA7340843
409 P>L No ClinGen
ExAC
TCGA novel 410 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390944995
CA390944993
rs1315861367
410 V>L No ClinGen
gnomAD
rs900838475
CA266135589
411 H>P No ClinGen
TOPMed
gnomAD
rs900838475
CA390945013
411 H>R No ClinGen
TOPMed
gnomAD
rs1459139101
CA390945026
412 Q>L No ClinGen
gnomAD
CA7340844
rs767282814
413 P>Q No ClinGen
ExAC
rs750096195
CA7340845
414 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7340847
rs535214522
415 P>L No ClinGen
1000Genomes
ExAC
TOPMed
rs779295552
CA390945092
419 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7340850
rs779295552
419 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7340849
rs376159668
419 R>W No ClinGen
ESP
ExAC
gnomAD
rs1595331051
CA390945095
420 P>A No ClinGen
Ensembl
rs758713375
CA7340852
421 P>A No ClinGen
ExAC
gnomAD
CA390945103
rs1376841644
421 P>L No ClinGen
gnomAD
CA390945104
rs1376841644
421 P>R No ClinGen
gnomAD
CA7340855
rs757529597
422 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390945107
rs1403160623
422 P>S No ClinGen
gnomAD
rs781478973
CA7340856
423 P>L No ClinGen
ExAC
rs781478973
CA390945114
423 P>R No ClinGen
ExAC
rs1233031038
CA390945110
423 P>T No ClinGen
TOPMed
rs1218732319
CA390945120
424 P>L No ClinGen
TOPMed
rs1279653590
CA390945115
424 P>T No ClinGen
TOPMed
CA7340858
rs769843517
425 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs769843517
CA7340859
425 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA390945121
rs769843517
425 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7340860
rs748067534
426 S>P No ClinGen
ExAC
gnomAD
CA7340861
rs771790935
426 S>Y No ClinGen
ExAC
CA7340862
rs772955703
427 S>R No ClinGen
ExAC
gnomAD
CA7340863
rs760381998
427 S>T No ClinGen
ExAC
gnomAD
rs1217851623
CA390945136
428 Y>H No ClinGen
gnomAD
CA266135591
rs1003543184
429 M>K No ClinGen
TOPMed
CA7340864
rs766019646
429 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1242655843
CA390945170
430 T>S No ClinGen
gnomAD
CA7340866
rs758984649
431 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390945207
rs1261390147
433 S>A No ClinGen
gnomAD
CA390945215
rs1488160670
434 T>A No ClinGen
gnomAD
rs1488160670
CA390945214
434 T>P No ClinGen
gnomAD
rs1194908550
CA390945221
434 T>S No ClinGen
gnomAD
CA390945284
rs1367318907
439 M>I No ClinGen
gnomAD
CA7340868
rs753176466
439 M>T No ClinGen
ExAC
gnomAD
CA390945288
rs1173027334
440 S>T No ClinGen
TOPMed
CA390945298
rs1304576863
441 G>R No ClinGen
gnomAD
rs1399137326
CA390945316
442 E>G No ClinGen
gnomAD
TCGA novel 444 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7340869
rs201501099
445 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1363849142
CA390945371
446 S>R No ClinGen
gnomAD
CA390945423
rs1322405212
450 M>I No ClinGen
TOPMed
gnomAD
rs1311933968
CA390945415
450 M>L No ClinGen
TOPMed
gnomAD
CA390945414
rs1311933968
450 M>V No ClinGen
TOPMed
gnomAD
rs1247158712
TCGA novel
CA390945442
451 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
TCGA novel 451 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs894145157
CA266135594
452 K>Q No ClinGen
TOPMed
rs867757117
CA266135595
454 E>K No ClinGen
TOPMed
gnomAD
rs1217663367
CA390945484
455 G>R No ClinGen
gnomAD
CA266135596
rs970250072
456 P>A No ClinGen
gnomAD
rs1595331377
CA390945505
457 S>A No ClinGen
Ensembl
TCGA novel 458 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7340873
rs565765320
459 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1595331390
CA390945534
459 G>V No ClinGen
Ensembl
rs1198806194
CA390945545
460 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs963110983
CA266135598
462 P>T No ClinGen
TOPMed
gnomAD
CA390945569
rs1331644229
463 P>A No ClinGen
TOPMed
rs746043550
CA7340874
463 P>R No ClinGen
ExAC
gnomAD
TCGA novel 468 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA266135599
rs997139602
473 Y>S No ClinGen
Ensembl
rs1028260055
CA266135600
474 H>P No ClinGen
TOPMed
gnomAD
CA266135601
rs952529266
476 H>P No ClinGen
Ensembl
CA390945750
rs1278356047
478 Y>* No ClinGen
Ensembl
CA390945746
rs534601080
478 Y>C No ClinGen
1000Genomes
CA266135602
rs534601080
478 Y>S No ClinGen
1000Genomes
rs1015626086
CA266135603
481 N>T No ClinGen
TOPMed
CA390945791
rs1376284414
482 P>L No ClinGen
gnomAD
rs1288430029
CA390945813
484 P>L No ClinGen
TOPMed
gnomAD
rs1595331533
CA390945866
489 P>R No ClinGen
Ensembl
CA390945873
rs1257072835
490 P>S No ClinGen
gnomAD
rs1177345987
CA390945882
491 P>S No ClinGen
gnomAD
CA390945902
rs1595331574
493 S>P No ClinGen
Ensembl
CA390945910
rs1595331581
494 F>L No ClinGen
Ensembl
CA390945915
rs1232085524
494 F>S No ClinGen
TOPMed
rs1412522062
CA390945935
496 P>L No ClinGen
TOPMed
gnomAD
rs1412522062
CA390945932
496 P>Q No ClinGen
TOPMed
gnomAD
rs1412522062
CA390945934
496 P>R No ClinGen
TOPMed
gnomAD
rs866279123
CA266135604
499 I>T No ClinGen
Ensembl
rs112286214
CA266135605
500 P>R No ClinGen
Ensembl
rs1376073104
CA390946004
503 T>A No ClinGen
TOPMed
CA390946010
rs1470888312
503 T>I No ClinGen
gnomAD
rs1376073104
CA390946002
503 T>P No ClinGen
TOPMed
rs1173084351
CA390946037
506 Y>S No ClinGen
TOPMed
CA390946048
rs1329242584
507 P>R No ClinGen
gnomAD
CA390946088
rs764694208
512 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1595331696
CA390946092
512 T>I No ClinGen
Ensembl
CA7340884
rs764694208
512 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA390946118
rs1230834346
514 N>K No ClinGen
TOPMed
CA390946114
rs1469905084
514 N>S No ClinGen
TOPMed
CA390946112
rs1469905084
514 N>T No ClinGen
TOPMed
rs866744998
CA266135606
516 N>H No ClinGen
Ensembl
CA390946139
rs1595331736
516 N>K No ClinGen
Ensembl
rs1595331728
CA390946133
516 N>T No ClinGen
Ensembl
rs1189112911
CA390946142
517 F>I No ClinGen
TOPMed
CA390946143
rs1189112911
517 F>L No ClinGen
TOPMed
CA266135607
rs868786858
517 F>S No ClinGen
Ensembl
rs868786858
CA390946147
517 F>Y No ClinGen
Ensembl
TCGA novel 520 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456922960
CA390946205
523 R>H No ClinGen
gnomAD
rs1456922960
CA390946207
523 R>P No ClinGen
gnomAD
rs1198784842
CA390946217
524 L>P No ClinGen
gnomAD
rs954617656
CA390946258
528 H>Q No ClinGen
TOPMed
gnomAD
CA390946260
rs1425537573
529 A>T No ClinGen
gnomAD
CA390946302
rs1422901475
533 H>P No ClinGen
TOPMed
gnomAD
TCGA novel 536 P>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212307981
CA390946332
536 P>S No ClinGen
TOPMed
gnomAD
CA390946359
rs1319492553
539 G>C No ClinGen
TOPMed
CA390946379
rs1466186352
541 P>L No ClinGen
gnomAD
CA390946381
rs1406326892
542 P>T No ClinGen
TOPMed
rs1435962560
CA390946395
543 A>D No ClinGen
gnomAD
CA7340889
rs752043596
544 S>C No ClinGen
ExAC
gnomAD
rs1475361156
CA390946433
547 P>S No ClinGen
TOPMed
rs577528220
CA7340892
550 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7340891
rs374537883
550 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1242643284
CA390946466
551 P>T No ClinGen
TOPMed
CA390946477
rs753951143
552 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7340895
rs753951143
552 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA390946548
rs1433868267
559 P>H No ClinGen
TOPMed
gnomAD
rs1595331914
CA390946554
560 P>A No ClinGen
Ensembl
CA7340899
rs770745891
560 P>L No ClinGen
ExAC
gnomAD
CA7340901
rs745557007
561 P>R No ClinGen
ExAC
gnomAD
CA266135612
rs868509054
566 G>D No ClinGen
gnomAD
rs202078095
CA7340904
566 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390946651
rs1398513000
570 V>A No ClinGen
TOPMed
gnomAD
rs368703834
CA7340906
571 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7340907
rs368703834
571 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390946657
rs1430718080
571 G>W No ClinGen
TOPMed
rs762366193
CA7340908
575 R>L No ClinGen
ExAC
gnomAD
rs762366193
CA7340909
575 R>Q No ClinGen
ExAC
gnomAD
rs750774367
CA7340910
576 A>T No ClinGen
ExAC
gnomAD
rs1041854216
CA266135613
577 A>T No ClinGen
TOPMed
TCGA novel 579 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

1 associated diseases with O75909

[MIM: 618147]: Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF)

An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. {ECO:0000269|PubMed:30122539}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. {ECO:0000269|PubMed:30122539}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O75909

Type Name Position InterPro Accession
domain Cyclin, C-terminal domain 158 - 278 IPR004367
domain Cyclin, N-terminal 42 - 155 IPR006671
domain Cyclin-like domain 55 - 149 IPR013763-1
domain Cyclin-like domain 162 - 256 IPR013763-2

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cyclin K-CDK12 complex A protein complex consisting of cyclin Kand cyclin-dependent kinase 12 (CDK12). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.
cyclin K-CDK13 complex A protein complex consisting of cyclin Kand cyclin-dependent kinase 13 (CDK13). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.
cyclin/CDK positive transcription elongation factor complex A transcription elongation factor complex that facilitates the transition from abortive to productive elongation by phosphorylating the CTD domain of the large subunit of DNA-directed RNA polymerase II, holoenzyme. Contains a cyclin and a cyclin-dependent protein kinase catalytic subunit.
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.

5 GO annotations of molecular function

Name Definition
cyclin-dependent protein serine/threonine kinase activator activity Binds to and increases the activity of a cyclin-dependent protein serine/threonine kinase.
cyclin-dependent protein serine/threonine kinase activity Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
cyclin-dependent protein serine/threonine kinase regulator activity Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
RNA polymerase II CTD heptapeptide repeat kinase activity Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (YSPTSPS) = ADP + H+ + phosphorylated RNA polymerase II.

12 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.
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
negative regulation by host of viral genome replication A process in which a host organism stops, prevents or reduces the frequency, rate or extent of viral genome replication.
phosphorylation of RNA polymerase II C-terminal domain The process of introducing a phosphate group on to an amino acid residue in the C-terminal domain of RNA polymerase II. Typically, this occurs during the transcription cycle and results in production of an RNA polymerase II enzyme where the carboxy-terminal domain (CTD) of the largest subunit is extensively phosphorylated, often referred to as hyperphosphorylated or the II(0) form. Specific types of phosphorylation within the CTD are usually associated with specific regions of genes, though there are exceptions. The phosphorylation state regulates the association of specific complexes such as the capping enzyme or 3'-RNA processing machinery to the elongating RNA polymerase complex.
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.
positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues Any process that activates or increases the frequency, rate or extent of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues.
positive regulation of transcription elongation by RNA polymerase II 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 RNA polymerase II.
regulation of cyclin-dependent protein serine/threonine kinase activity Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6T8E9 CCNT1 Cyclin-T1 Bos taurus (Bovine) SS
Q8HXN7 CCNT1 Cyclin-T1 Pan troglodytes (Chimpanzee) SS
P24863 CCNC Cyclin-C Homo sapiens (Human) PR
P51946 CCNH Cyclin-H Homo sapiens (Human) PR
O60563 CCNT1 Cyclin-T1 Homo sapiens (Human) EV
Q8N1B3 CCNQ Cyclin-Q Homo sapiens (Human) PR
Q9QWV9 Ccnt1 Cyclin-T1 Mus musculus (Mouse) SS
O88874 Ccnk Cyclin-K Mus musculus (Mouse) PR
Q2QQS5 CYCT1-1 Cyclin-T1-4 Oryza sativa subsp japonica (Rice) PR
Q6Z7H3 CYCT1_2 Cyclin-T1-2 Oryza sativa subsp japonica (Rice) PR
Q2RAC5 CYCT1-3 Cyclin-T1-3 Oryza sativa subsp japonica (Rice) PR
Q8GYM6 CYCT1-4 Cyclin-T1-4 Arabidopsis thaliana (Mouse-ear cress) PR
Q503D6 ccnq Cyclin-Q Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MKENKENSSP SVTSANLDHT KPCWYWDKKD LAHTPSQLEG LDPATEARYR REGARFIFDV
70 80 90 100 110 120
GTRLGLHYDT LATGIIYFHR FYMFHSFKQF PRYVTGACCL FLAGKVEETP KKCKDIIKTA
130 140 150 160 170 180
RSLLNDVQFG QFGDDPKEEV MVLERILLQT IKFDLQVEHP YQFLLKYAKQ LKGDKNKIQK
190 200 210 220 230 240
LVQMAWTFVN DSLCTTLSLQ WEPEIIAVAV MYLAGRLCKF EIQEWTSKPM YRRWWEQFVQ
250 260 270 280 290 300
DVPVDVLEDI CHQILDLYSQ GKQQMPHHTP HQLQQPPSLQ PTPQVPQVQQ SQPSQSSEPS
310 320 330 340 350 360
QPQQKDPQQP AQQQQPAQQP KKPSPQPSSP RQVKRAVVVS PKEENKAAEP PPPKIPKIET
370 380 390 400 410 420
THPPLPPAHP PPDRKPPLAA ALGEAEPPGP VDATDLPKVQ IPPPAHPAPV HQPPPLPHRP
430 440 450 460 470 480
PPPPPSSYMT GMSTTSSYMS GEGYQSLQSM MKTEGPSYGA LPPAYGPPAH LPYHPHVYPP
490 500 510 520 530 540
NPPPPPVPPP PASFPPPAIP PPTPGYPPPP PTYNPNFPPP PPRLPPTHAV PPHPPPGLGL
550 560 570
PPASYPPPAV PPGGQPPVPP PIPPPGMPPV GGLGRAAWMR