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

10 structures for Q08945

Entry ID Method Resolution Chain Position Source
4IFS X-ray 193 A A 196-430 PDB
5UMR X-ray 150 A A 1-100 PDB
5UMS X-ray 157 A A 174-437 PDB
5VWE NMR - A 551-617 PDB
6L1E X-ray 209 A A 196-430 PDB
6L1R X-ray 180 A A 1-100 PDB
6L34 X-ray 200 A A 548-615 PDB
6UPK EM 490 A H 1-640 PDB
6UPL EM 740 A H 1-640 PDB
AF-Q08945-F1 Predicted AlphaFoldDB

352 variants for Q08945

Variant ID(s) Position Change Description Diseaes Association Provenance
CA380579805
rs1318345420
2 A>V No ClinGen
TOPMed
CA380579778
rs1269134434
5 L>M No ClinGen
TOPMed
rs1590613578
CA380579754
7 F>V No ClinGen
Ensembl
rs542006597
CA6004814
RCV000889511
10 V>I No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA6004813
rs373402679
11 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1483648908
CA380579697
12 Q>* No ClinGen
TOPMed
gnomAD
CA380579674
rs1300772771
14 V>A No ClinGen
gnomAD
CA380579675
rs1300772771
14 V>G No ClinGen
gnomAD
rs776365210
CA6004812
14 V>L No ClinGen
ExAC
CA380579658
rs1190621524
16 G>S No ClinGen
TOPMed
CA222712505
rs370222629
18 M>V No ClinGen
ESP
TOPMed
rs755268663
CA6004780
27 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs145267582
CA6004779
RCV000954719
27 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 27 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565055979
CA380579471
28 Q>E No ClinGen
Ensembl
TCGA novel 29 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004777
rs761572094
30 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1281326986
CA380579438
31 I>V No ClinGen
gnomAD
rs1476823767
CA380579360
37 T>I No ClinGen
TOPMed
rs1245681389
CA380579365
37 T>S No ClinGen
TOPMed
CA6004774
rs760119577
38 G>D No ClinGen
ExAC
gnomAD
rs1415111881
CA380579285
44 Q>* No ClinGen
gnomAD
CA222712332
rs993363792
46 G>E No ClinGen
gnomAD
CA380579248
rs1295923776
48 L>V No ClinGen
gnomAD
CA6004773
rs775505662
49 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA380579212
rs1408328078
51 G>V No ClinGen
gnomAD
rs1412294319
CA380579193
54 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs759396902
CA6004771
55 R>H No ClinGen
ExAC
gnomAD
TCGA novel 57 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004769
rs771028574
60 H>R No ClinGen
ExAC
gnomAD
rs1458046004
CA380579138
60 H>Y No ClinGen
TOPMed
rs1387009168
CA380579110
62 L>F No ClinGen
TOPMed
rs1330650150
CA380579061
66 T>I No ClinGen
TOPMed
TCGA novel 67 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 77 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004764
rs781662202
79 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs755536119
CA6004763
80 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs948110621
CA222709041
81 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 83 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004741
rs541213567
85 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs755775968
CA6004739
87 D>G No ClinGen
ExAC
gnomAD
rs1424056391
CA380578375
88 F>C No ClinGen
TOPMed
rs1590611037
CA380578373
88 F>L No ClinGen
Ensembl
rs1424056391
CA380578377
88 F>Y No ClinGen
TOPMed
rs1469559178
CA380578369
89 F>C No ClinGen
TOPMed
CA380578363
rs1174735311
90 K>E No ClinGen
TOPMed
CA380578360
rs1456549503
90 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6004737
rs767096415
94 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs377522214
CA6004736
94 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA222709026
rs377522214
94 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751485584
CA6004735
95 L>F No ClinGen
ExAC
gnomAD
CA380578322
rs1217301314
96 E>G No ClinGen
gnomAD
CA6004733
rs762803298
97 L>V No ClinGen
ExAC
gnomAD
rs772938006
CA6004732
99 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs373066245
CA6004730
101 D>E No ClinGen
ESP
ExAC
gnomAD
TCGA novel 103 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174360283
CA380578212
111 T>I No ClinGen
gnomAD
rs776062951
CA6004726
112 V>L No ClinGen
ExAC
gnomAD
CA222709002
rs772515675
113 K>R No ClinGen
ExAC
CA6004725
rs772515675
113 K>T No ClinGen
ExAC
rs746225913
CA6004724
115 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs779189385
CA6004723
115 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA6004697
rs144234860
117 Q>E No ClinGen
ESP
ExAC
gnomAD
rs1487086828
CA380578124
123 I>M No ClinGen
gnomAD
rs1335943286
CA380578130
123 I>V No ClinGen
TOPMed
rs779469892
CA6004696
125 D>A No ClinGen
ExAC
gnomAD
rs1215873317
CA380578116
125 D>H No ClinGen
gnomAD
CA380578117
rs1215873317
125 D>N No ClinGen
gnomAD
rs369408799
CA6004694
127 P>L No ClinGen
ESP
ExAC
TOPMed
rs143017576
CA6004695
127 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1306551051
CA380578074
131 I>L No ClinGen
TOPMed
CA6004693
rs778921185
133 L>F No ClinGen
ExAC
gnomAD
rs1295464703
CA380578046
135 N>S No ClinGen
gnomAD
CA222708946
rs944302065
137 S>C No ClinGen
Ensembl
rs1360118061
CA380578036
137 S>P No ClinGen
gnomAD
rs1224850792
CA380578022
139 C>R No ClinGen
TOPMed
rs764280218
CA6004690
148 L>M No ClinGen
ExAC
gnomAD
CA380577957
rs1162541497
149 E>K No ClinGen
gnomAD
rs1474827895
CA380577939
151 H>Y No ClinGen
gnomAD
rs201361828
CA6004688
153 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA6004685
rs201778138
156 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1590610263
CA380577893
157 E>G No ClinGen
Ensembl
rs1212563745
CA380577844
164 R>C No ClinGen
gnomAD
CA222708943
rs113062066
166 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145791089
CA6004682
167 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1403813270
CA380577774
169 P>H No ClinGen
TOPMed
rs373177172
CA222708942
170 T>S No ClinGen
ESP
rs1296513761
CA380577714
173 D>E No ClinGen
gnomAD
rs768388628
CA6004681
173 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1360716967
CA380577689
175 V>G No ClinGen
TOPMed
CA222708941
rs967899383
176 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA380577600
rs1463381917
180 A>T No ClinGen
gnomAD
TCGA novel 180 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1163117498
CA380577515
186 L>S No ClinGen
gnomAD
rs765647715
CA6004664
189 A>E No ClinGen
ExAC
gnomAD
rs1343983273
CA380577449
191 V>I No ClinGen
TOPMed
rs1253440528
CA380577391
195 T>M No ClinGen
Ensembl
TCGA novel 195 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1197910336
CA380577345
199 I>V No ClinGen
TOPMed
gnomAD
rs140679224
CA6004660
201 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA222708930
rs368418155
COSM3791594
203 R>W urinary_tract [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
rs72921999
CA222708929
204 E>A No ClinGen
1000Genomes
gnomAD
TCGA novel 212 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380577156
rs2230650
214 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755802562
CA6004655
221 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6004656
rs755802562
221 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs755802562
CA380577064
221 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA222708928
rs768436
VAR_052495
225 L>V No ClinGen
UniProt
Ensembl
dbSNP
rs1434924407
CA380577007
226 H>Y No ClinGen
gnomAD
CA380576981
COSM1354756
rs1590609910
228 K>E large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA380576948
rs1156302339
232 Y>C No ClinGen
gnomAD
CA380576890
rs1422397696
241 R>C No ClinGen
gnomAD
CA6004649
rs758573318
241 R>H No ClinGen
ExAC
gnomAD
rs750902126
CA6004648
246 P>T No ClinGen
ExAC
gnomAD
rs1486772599
CA380576855
247 H>N No ClinGen
gnomAD
rs1354229678
CA380576783
256 V>M No ClinGen
TOPMed
gnomAD
rs1166286583
CA380576106
269 R>C No ClinGen
gnomAD
CA6004620
rs761767957
269 R>H Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA222708909
rs112090839
271 H>L No ClinGen
Ensembl
rs1460866160
CA380576029
275 L>V No ClinGen
TOPMed
rs768440204
CA6004618
278 S>C No ClinGen
ExAC
gnomAD
CA380575926
rs1478842710
282 D>Y No ClinGen
TOPMed
gnomAD
CA380575914
rs1247050110
283 I>V No ClinGen
gnomAD
rs200509142
CA6004616
284 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 287 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380575846
rs1214280927
288 N>S No ClinGen
gnomAD
rs1336619542
COSM3791593
CA380575824
289 M>I Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1590609581
CA380575834
289 M>V No ClinGen
Ensembl
rs754313242
CA6004611
291 E>G No ClinGen
ExAC
gnomAD
rs764822163
CA6004612
291 E>K No ClinGen
ExAC
gnomAD
CA6004600
rs765842738
294 V>L No ClinGen
ExAC
gnomAD
rs973761122
CA222708901
295 E>D No ClinGen
Ensembl
CA6004599
rs775473221
295 E>G No ClinGen
ExAC
gnomAD
rs1303459920
CA380575668
297 R>C No ClinGen
gnomAD
COSM219151
rs772025027
CA6004598
301 R>W breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6004597
rs746040644
304 K>N No ClinGen
ExAC
gnomAD
TCGA novel 305 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA222708899
rs201642712
305 N>S No ClinGen
TOPMed
gnomAD
CA380575395
rs1366428896
316 R>P No ClinGen
Ensembl
rs770977879
CA6004595
316 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs778334664
CA6004593
318 M>T No ClinGen
ExAC
gnomAD
CA222708898
rs369372594
320 A>T No ClinGen
Ensembl
rs1417468897
CA380575330
321 L>R No ClinGen
gnomAD
COSM1354755
rs748483435
CA6004591
324 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380575293
rs1590609312
COSM928573
324 R>H endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
CA6004590
rs755354855
329 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs755354855
CA6004589
329 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA222708896
rs972561180
331 N>D No ClinGen
TOPMed
CA380575205
rs750030043
331 N>I No ClinGen
ExAC
gnomAD
rs750030043
CA6004588
331 N>S No ClinGen
ExAC
gnomAD
CA380575008
rs1184277632
340 C>G No ClinGen
TOPMed
CA222708864
rs975587252
342 T>I No ClinGen
gnomAD
rs1460691803
CA380574948
344 S>C No ClinGen
gnomAD
rs1418337949
CA380574937
345 Y>C No ClinGen
gnomAD
TCGA novel 347 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1426338503
CA380574879
349 S>* No ClinGen
gnomAD
CA380574831
rs1195530879
354 P>A No ClinGen
TOPMed
CA380574824
rs1186583601
354 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1416365006
CA380574810
356 E>K No ClinGen
Ensembl
CA380574796
rs1565053805
357 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA222708863
rs965754863
362 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 367 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1031692895
COSM1354754
CA222708862
370 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs763084886
CA380574594
371 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA380574545
rs1307122164
375 S>P No ClinGen
gnomAD
TCGA novel 378 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004556
rs761882041
395 T>S No ClinGen
ExAC
gnomAD
rs369695760
CA222708860
398 G>S No ClinGen
Ensembl
rs1323754152
CA380574233
399 T>A No ClinGen
gnomAD
CA380574220
rs1295774767
400 Q>P No ClinGen
TOPMed
rs1590608691
CA380574140
405 S>R No ClinGen
Ensembl
TCGA novel 412 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377487337
CA6004536
413 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA380574029
rs1184838198
414 L>R No ClinGen
gnomAD
CA222708776
rs924483026
414 L>V No ClinGen
TOPMed
TCGA novel 415 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 418 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356018028
CA380574003
418 V>L No ClinGen
TOPMed
CA6004534
rs772260998
419 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6004532
rs777555591
420 A>V Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1236759465
CA380573982
421 K>R No ClinGen
gnomAD
CA380573978
rs1335137330
422 K>E No ClinGen
gnomAD
CA6004530
rs747635733
424 N>T No ClinGen
ExAC
gnomAD
rs1311899256
CA380573931
428 R>Q No ClinGen
gnomAD
CA380573926
rs754541795
429 G>A No ClinGen
ExAC
gnomAD
rs754541795
CA6004528
429 G>E No ClinGen
ExAC
gnomAD
rs1053028904
CA222708773
431 K>R No ClinGen
Ensembl
CA6004509
rs767982791
433 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1473893427
CA380573865
436 P>R No ClinGen
gnomAD
TCGA novel 440 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1192486332
CA380573827
441 Y>C No ClinGen
gnomAD
CA6004507
rs779838351
442 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA380573818
rs779838351
442 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA380573752
rs1310128504
451 A>V No ClinGen
TOPMed
CA6004505
rs745630542
454 E>Q No ClinGen
ExAC
gnomAD
VAR_052496
rs11540304
CA222708727
458 E>Q No ClinGen
UniProt
Ensembl
dbSNP
rs1317468322
CA380573629
468 N>S No ClinGen
TOPMed
rs1268061948
CA380573612
470 S>T No ClinGen
gnomAD
CA6004500
rs756136882
472 D>N No ClinGen
ExAC
gnomAD
TCGA novel 475 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs963929589
CA222708725
475 G>E No ClinGen
Ensembl
CA380573537
rs1590607069
479 D>E No ClinGen
Ensembl
CA380573510
rs1479025098
483 N>T No ClinGen
TOPMed
CA380573504
rs1565052771
484 P>A No ClinGen
Ensembl
rs1046160960
CA222708713
485 G>D No ClinGen
TOPMed
rs1046160960
CA380573495
485 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1424303401 493 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6004459
rs781573004
495 F>V No ClinGen
ExAC
gnomAD
rs768189674
CA222708523
498 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA6004456
COSM1354752
rs780681897
498 N>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1472805398
CA380573385
499 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1253468389
CA380573373
501 A>T No ClinGen
gnomAD
CA380573368
rs1433260068
501 A>V No ClinGen
TOPMed
rs1185390973
CA380573348
504 S>F No ClinGen
gnomAD
rs943407423
CA222708522
508 G>A No ClinGen
TOPMed
CA6004452
rs765586387
510 S>N No ClinGen
ExAC
gnomAD
CA380573293
rs752279750
512 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6004450
rs752279750
512 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748785342
CA6004451
512 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 513 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767216231
CA6004449
516 K>Q No ClinGen
ExAC
gnomAD
rs374350120
CA6004447
517 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372798116
CA6004448
517 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6004446
rs770461992
525 M>I No ClinGen
ExAC
gnomAD
rs1345455659
CA380573188
526 A>V No ClinGen
TOPMed
rs1242139679
CA380573174
527 K>N No ClinGen
TOPMed
TCGA novel 528 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004444
rs370685904
529 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769568719
CA6004443
529 R>H No ClinGen
ExAC
gnomAD
rs747956444
CA6004442
530 K>T No ClinGen
ExAC
gnomAD
CA380573132
rs1230156988
531 S>N No ClinGen
Ensembl
rs769046358
CA6004440
532 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA380573118
rs988338838
532 R>H No ClinGen
TOPMed
gnomAD
rs988338838
CA222708520
532 R>P No ClinGen
TOPMed
gnomAD
rs747051359
CA6004439
533 K>R No ClinGen
ExAC
gnomAD
CA6004436
rs758427850
536 V>A No ClinGen
ExAC
gnomAD
rs746000479
CA380573020
538 V>L No ClinGen
ExAC
gnomAD
rs746000479
CA6004415
538 V>M No ClinGen
ExAC
gnomAD
rs1341783150
CA380572987
541 G>R No ClinGen
gnomAD
TCGA novel 541 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298405270
CA380572980
541 G>V No ClinGen
gnomAD
CA6004412
rs144558178
545 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1409920554
CA380572913
548 K>Q No ClinGen
TOPMed
rs1385961996
CA380572910
548 K>R No ClinGen
gnomAD
rs1368075415
CA380572894
550 P>T No ClinGen
gnomAD
CA380572880
rs1295107443
551 M>T No ClinGen
TOPMed
gnomAD
rs778065936
CA6004411
552 S>F No ClinGen
ExAC
gnomAD
CA222708481
rs898859607
554 Y>N No ClinGen
TOPMed
rs370156740
CA6004408
559 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757908662
CA6004407
561 S>T No ClinGen
ExAC
gnomAD
rs1198818327
CA380572769
562 R>* No ClinGen
gnomAD
CA380572751
rs1369844302
564 K>E No ClinGen
TOPMed
rs749945399
CA6004406
564 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs1269887973
CA380572743
564 K>N No ClinGen
gnomAD
rs1273390577
CA380572711
567 S>L No ClinGen
TOPMed
rs765187747
CA6004405
569 H>Q No ClinGen
ExAC
gnomAD
CA6004404
COSM78579
rs761799650
575 T>M ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 576 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1284198822
CA380572565
580 K>T No ClinGen
TOPMed
rs1041947885
CA222708480
583 E>D No ClinGen
Ensembl
rs149785307
CA380572501
584 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149785307
CA6004402
584 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6004400
rs775776663
592 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1308287795
CA380572291
594 E>D No ClinGen
gnomAD
TCGA novel 595 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004383
rs756839016
598 R>C No ClinGen
ExAC
gnomAD
CA222708465
rs879145494
598 R>H No ClinGen
TOPMed
gnomAD
rs1369132649
CA380572130
600 A>P No ClinGen
TOPMed
rs1314036651
CA380572111
602 D>N No ClinGen
TOPMed
rs764192967
CA6004381
603 A>G No ClinGen
ExAC
gnomAD
CA6004379
rs752475213
604 R>K No ClinGen
ExAC
gnomAD
rs201685642
CA6004377
606 D>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 608 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6004375
rs770934067
610 A>V No ClinGen
ExAC
gnomAD
CA380571973
rs1188248956
611 M>R No ClinGen
TOPMed
gnomAD
COSM1676028
CA380571976
rs1188248956
611 M>T prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA380571959
rs1444209480
612 K>E No ClinGen
TOPMed
gnomAD
CA380571864
rs1206712079
617 G>A No ClinGen
gnomAD
CA6004373
rs773699958
618 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6004371
rs748477169
620 E>K No ClinGen
ExAC
gnomAD
CA380571781
rs1211431710
623 K>E No ClinGen
TOPMed
rs985933102
CA222708408
626 K>R No ClinGen
TOPMed
CA6004349
rs747472825
627 S>L No ClinGen
ExAC
gnomAD
rs1407284220
CA380571583
628 K>E No ClinGen
gnomAD
rs199803004
CA222708407
628 K>R No ClinGen
1000Genomes
CA380571534
COSM928565
rs1235744456
630 K>N Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA380571518
rs368768420
CA6004347
631 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748980756
CA6004344
633 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1590603449
CA380571459
635 V>A No ClinGen
Ensembl
rs1351074537
CA380571446
636 K>T No ClinGen
gnomAD
rs1328136834
CA380571434
637 M>V No ClinGen
gnomAD
CA6004342
rs777370098
641 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA6004341
rs542109626
642 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs191760277
CA380571310
643 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754720301
CA6004338
643 P>L No ClinGen
ExAC
gnomAD
rs191760277
CA6004339
643 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs191760277
CA222708404
643 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA380571288
rs751423235
644 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA6004337
rs751423235
644 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs769170471
CA6004336
645 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA380571278
rs769170471
645 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA222708402
rs1035884861
646 G>C No ClinGen
Ensembl
rs376694903
CA222708401
646 G>V No ClinGen
ESP
TOPMed
CA6004335
rs750663512
647 S>* No ClinGen
ExAC
gnomAD
CA6004334
rs750663512
647 S>L No ClinGen
ExAC
gnomAD
TCGA novel 650 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380571171
rs1217958155
651 S>L No ClinGen
TOPMed
gnomAD
rs1348619573
CA380571137
653 S>L No ClinGen
Ensembl
rs776998829
CA6004330
655 Q>L No ClinGen
ExAC
gnomAD
CA380571077
rs1368760613
657 S>I No ClinGen
TOPMed
CA380571053
rs1590603236
658 E>D No ClinGen
Ensembl
CA6004328
rs760925841
658 E>K No ClinGen
ExAC
rs775957545
CA6004327
659 S>N No ClinGen
ExAC
gnomAD
rs1277187239
CA380571008
661 K>R No ClinGen
TOPMed
CA380570995
rs1318804168
662 S>I No ClinGen
TOPMed
TCGA novel 663 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 663 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748893034
CA6004325
664 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA6004326
rs772587723
664 E>Q No ClinGen
ExAC
gnomAD
CA380570934
rs1463672036
666 V>M No ClinGen
TOPMed
CA6004324
rs773005161
667 S>C No ClinGen
ExAC
gnomAD
rs1172874050
CA380570905
668 S>R No ClinGen
gnomAD
rs1427622260
CA380570855
670 E>G No ClinGen
TOPMed
gnomAD
rs138466158
CA222708400
670 E>Q No ClinGen
ESP
gnomAD
rs867945111
CA222708399
672 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1477582186
CA380570822
672 S>P No ClinGen
TOPMed
CA380570809
rs1483208516
673 S>L No ClinGen
gnomAD
CA6004319
rs746976175
675 E>D No ClinGen
ExAC
CA6004320
rs754988038
675 E>Q No ClinGen
ExAC
gnomAD
CA222708398
rs1048643321
676 N>K No ClinGen
gnomAD
rs1419131854
CA380570711
681 K>R No ClinGen
TOPMed
CA380570697
rs1385847534
682 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1462635301
CA380570669
685 S>G No ClinGen
TOPMed
rs758199473
CA6004314
685 S>R No ClinGen
ExAC
TOPMed
CA380570663
rs1288161846
686 E>K No ClinGen
gnomAD
CA222708372
rs749745883
688 S>Y No ClinGen
Ensembl
CA6004297
rs779973680
689 E>D No ClinGen
ExAC
gnomAD
CA380570556
rs142261788
692 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142261788
CA6004295
692 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376345094
CA6004294
693 L>V No ClinGen
ESP
ExAC
TOPMed
CA380570503
rs1329631918
697 P>A No ClinGen
TOPMed
gnomAD
CA380570499
rs757540521
697 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6004292
rs757540521
697 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1329631918
CA380570505
697 P>T No ClinGen
TOPMed
gnomAD
CA222708371
rs865808282
698 P>L No ClinGen
Ensembl
CA6004291
rs372058811
698 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 699 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 699 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380570484
rs1184960500
699 S>T No ClinGen
gnomAD
rs1278826058
CA380570450
702 D>G No ClinGen
gnomAD
CA380570424
rs1272356295
704 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1263859557
CA380570389
COSM928564
708 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD

No associated diseases with Q08945

4 regional properties for Q08945

Type Name Position InterPro Accession
domain High mobility group box domain 546 - 616 IPR009071
domain Histone chaperone RTT106/FACT complex subunit SPT16-like, middle domain 338 - 428 IPR013719
domain SSRP1, dimerization domain 106 - 170 IPR024954
domain FACT complex subunit SSRP1/POB3, N-terminal PH domain 6 - 97 IPR035417

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus, nucleolus
  • Chromosome
  • Colocalizes with RNA polymerase II on chromatin
  • Recruited to actively transcribed loci
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
FACT complex A histone chaperone complex that facilitates nucleosome disassembly and reassembly upon DNA or RNA polymerase passage.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

4 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).
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
nucleosome binding Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
RNA binding Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name Definition
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.
DNA replication The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
nucleosome assembly The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
nucleosome disassembly The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
regulation of chromatin organization Any process that modulates the frequency, rate or extent of chromatin organization.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q04636 POB3 FACT complex subunit POB3 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
10 20 30 40 50 60
MAETLEFNDV YQEVKGSMND GRLRLSRQGI IFKNSKTGKV DNIQAGELTE GIWRRVALGH
70 80 90 100 110 120
GLKLLTKNGH VYKYDGFRES EFEKLSDFFK THYRLELMEK DLCVKGWNWG TVKFGGQLLS
130 140 150 160 170 180
FDIGDQPVFE IPLSNVSQCT TGKNEVTLEF HQNDDAEVSL MEVRFYVPPT QEDGVDPVEA
190 200 210 220 230 240
FAQNVLSKAD VIQATGDAIC IFRELQCLTP RGRYDIRIYP TFLHLHGKTF DYKIPYTTVL
250 260 270 280 290 300
RLFLLPHKDQ RQMFFVISLD PPIKQGQTRY HFLILLFSKD EDISLTLNMN EEEVEKRFEG
310 320 330 340 350 360
RLTKNMSGSL YEMVSRVMKA LVNRKITVPG NFQGHSGAQC ITCSYKASSG LLYPLERGFI
370 380 390 400 410 420
YVHKPPVHIR FDEISFVNFA RGTTTTRSFD FEIETKQGTQ YTFSSIEREE YGKLFDFVNA
430 440 450 460 470 480
KKLNIKNRGL KEGMNPSYDE YADSDEDQHD AYLERMKEEG KIREENANDS SDDSGEETDE
490 500 510 520 530 540
SFNPGEEEED VAEEFDSNAS ASSSSNEGDS DRDEKKRKQL KKAKMAKDRK SRKKPVEVKK
550 560 570 580 590 600
GKDPNAPKRP MSAYMLWLNA SREKIKSDHP GISITDLSKK AGEIWKGMSK EKKEEWDRKA
610 620 630 640 650 660
EDARRDYEKA MKEYEGGRGE SSKRDKSKKK KKVKVKMEKK STPSRGSSSK SSSRQLSESF
670 680 690 700
KSKEFVSSDE SSSGENKSKK KRRRSEDSEE EELASTPPSS EDSASGSDE