Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9Y5Z7

Entry ID Method Resolution Chain Position Source
AF-Q9Y5Z7-F1 Predicted AlphaFoldDB

390 variants for Q9Y5Z7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1318119328
CA386333661
2 A>V No ClinGen
gnomAD
rs1363441085
CA386333681
3 A>V No ClinGen
gnomAD
rs904342667
CA242587120
4 P>L No ClinGen
TOPMed
CA386333688
rs1230958166
4 P>S No ClinGen
TOPMed
gnomAD
CA386333713
rs1298597226
5 S>G No ClinGen
gnomAD
rs370124268
CA242587135
CA386333734
5 S>R No ClinGen
ESP
TOPMed
gnomAD
rs750318884
CA6754841
7 L>V No ClinGen
ExAC
gnomAD
CA386333794
rs1273761483
8 N>H No ClinGen
gnomAD
rs1566221187
CA386333902
11 R>Q No ClinGen
Ensembl
CA386333949
rs1271060278
13 S>F No ClinGen
TOPMed
CA6754843
rs781068820
15 F>L No ClinGen
ExAC
gnomAD
CA386334010
rs1262186615
16 T>M No ClinGen
TOPMed
CA6754845
rs770095641
16 T>P No ClinGen
ExAC
gnomAD
CA242587210
rs182417219
22 A>P No ClinGen
1000Genomes
gnomAD
rs182417219
CA386334102
22 A>S No ClinGen
1000Genomes
gnomAD
rs1385278764
CA386334510
CA386334506
35 M>I No ClinGen
TOPMed
gnomAD
rs763785064
CA6754854
41 G>R No ClinGen
ExAC
gnomAD
CA242587302
rs2700500
VAR_050044
46 A>S No ClinGen
UniProt
Ensembl
dbSNP
CA386334852
rs1447434456
52 Y>C No ClinGen
TOPMed
CA6754855
rs534161236
53 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6754856
rs761659441
54 T>M No ClinGen
ExAC
gnomAD
CA386334889
rs1268481623
54 T>S No ClinGen
gnomAD
TCGA novel 55 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6754884
rs756321771
56 T>K No ClinGen
ExAC
TOPMed
gnomAD
COSM1358319
rs756321771
CA6754883
56 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386335081
rs1280061336
57 N>H No ClinGen
gnomAD
CA6754886
rs757380116
60 F>L No ClinGen
ExAC
gnomAD
CA386335268
rs1314546069
64 V>I No ClinGen
gnomAD
CA6754888
rs746266215
65 R>T No ClinGen
ExAC
gnomAD
CA6754890
rs780601426
66 G>R No ClinGen
ExAC
gnomAD
TCGA novel 67 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355746312
CA386335393
69 P>A No ClinGen
TOPMed
rs1237425648
CA386335471
73 A>T No ClinGen
gnomAD
CA242588847
rs376389345
80 D>N No ClinGen
ESP
CA386335668
rs1183996443
82 T>S No ClinGen
gnomAD
TCGA novel 83 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6754894
rs747860413
84 I>V No ClinGen
ExAC
rs769384943
CA6754895
85 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1449144616
CA386335760
87 F>L No ClinGen
gnomAD
TCGA novel 90 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 96 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 98 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs917566185
CA242588964
98 N>K No ClinGen
TOPMed
CA6754898
rs766264313
99 E>* No ClinGen
ExAC
gnomAD
rs759481011
CA6754900
101 Y>H No ClinGen
ExAC
gnomAD
CA6754920
COSM430195
rs774250277
107 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366956772
CA386337131
114 K>E No ClinGen
gnomAD
rs1430971615
CA386337145
COSM1739888
115 P>T NS [Cosmic] No ClinGen
cosmic curated
gnomAD
rs759566755
CA386337159
116 H>D No ClinGen
ExAC
gnomAD
rs759566755
CA6754921
116 H>Y No ClinGen
ExAC
gnomAD
CA242590435
rs866483722
117 P>L No ClinGen
Ensembl
CA6754922
rs772184239
118 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA242590446
rs1008487928
118 P>S No ClinGen
Ensembl
CA6754923
rs150909028
119 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6754924
rs761864841
121 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs765341316
CA6754925
123 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1270370053
CA386337322
127 R>G No ClinGen
gnomAD
rs1305607617
CA386337407
132 F>L No ClinGen
gnomAD
rs1443735795
CA386337421
133 S>P No ClinGen
TOPMed
rs1416929619
CA386337486
135 Y>* No ClinGen
TOPMed
rs755307706
CA6754930
135 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6754929
rs534442693
135 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1191785404
CA386337504
137 N>D No ClinGen
TOPMed
gnomAD
rs1566223480
CA386337514
137 N>K No ClinGen
Ensembl
rs557800723
CA6754931
137 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 138 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1156737438
CA386337702
148 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM174273
CA6754933
rs755592892
150 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755592892
CA386337742
150 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1322465683
CA386337777
151 D>E No ClinGen
gnomAD
rs777271824
CA6754934
154 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1283314478
CA386337841
157 P>R No ClinGen
gnomAD
TCGA novel 160 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6754952
rs202081777
170 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753445157
CA6754953
170 H>R No ClinGen
ExAC
gnomAD
CA386338967
rs202081777
170 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1358793784
CA386338984
171 G>A No ClinGen
gnomAD
rs756794025
CA6754954
173 G>D No ClinGen
ExAC
gnomAD
rs1274088881
CA386339015
174 V>I No ClinGen
gnomAD
rs113829238
CA6754955
179 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1209602035
CA386339129
182 T>N No ClinGen
TOPMed
CA6754956
rs745498802
185 V>A No ClinGen
ExAC
gnomAD
CA6754957
rs758281586
188 S>F No ClinGen
ExAC
gnomAD
rs1186615399
CA386339347
197 I>T No ClinGen
gnomAD
rs1265143908
CA386339362
198 Y>C No ClinGen
gnomAD
rs768259042
CA242598921
200 K>R No ClinGen
TOPMed
TCGA novel 202 D>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438442231
CA386339471
204 G>A No ClinGen
TOPMed
CA386339484
rs1446131798
205 S>I No ClinGen
gnomAD
rs1446131798
CA386339486
205 S>N No ClinGen
gnomAD
rs1163810710
CA386339507
207 K>E No ClinGen
gnomAD
rs1389101801
CA386339523
208 M>V No ClinGen
gnomAD
rs1320744813
CA386339545
209 Y>H No ClinGen
TOPMed
TCGA novel 223 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749438311
CA6754962
224 Q>K No ClinGen
ExAC
gnomAD
rs12422501
CA242598952
228 E>K No ClinGen
Ensembl
CA242599840
rs994659311
236 E>* No ClinGen
Ensembl
CA6754974
rs758027389
236 E>G No ClinGen
ExAC
gnomAD
CA242599846
rs757149889
237 T>A No ClinGen
gnomAD
TCGA novel 248 H>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1363320149
CA386341117
252 V>F No ClinGen
gnomAD
TCGA novel 255 N>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 262 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 262 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303451234
CA386341354
263 W>R No ClinGen
gnomAD
CA6754996
rs749902760
264 V>I No ClinGen
ExAC
gnomAD
CA6754998
rs766125324
266 H>R No ClinGen
ExAC
gnomAD
CA6754999
VAR_033984
rs17035206
268 G>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs754817344
CA6755000
269 E>G No ClinGen
ExAC
gnomAD
TCGA novel 269 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386341476
rs1207579841
273 T>S No ClinGen
gnomAD
CA242600932
rs983394368
275 P>L No ClinGen
TOPMed
gnomAD
CA242600928
rs1019821347
275 P>S No ClinGen
TOPMed
gnomAD
rs1180322338
CA386341636
286 F>S No ClinGen
TOPMed
rs1341624284
CA386341751
293 T>K No ClinGen
gnomAD
rs1461350000
CA386341758
294 T>A No ClinGen
Ensembl
rs762583470
CA6755014
294 T>I No ClinGen
ExAC
gnomAD
TCGA novel 296 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759074795
CA6755017
302 D>H No ClinGen
ExAC
gnomAD
rs1457318682
CA386341878
304 Q>R No ClinGen
TOPMed
rs1345768728
CA386341898
305 E>D No ClinGen
TOPMed
rs1437663441
CA386341907
306 D>V No ClinGen
TOPMed
rs1160219217
CA386341904
306 D>Y No ClinGen
TOPMed
TCGA novel 308 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776023139 309 N>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1444252024
CA386342004
309 N>K No ClinGen
gnomAD
rs767326665
CA6755019
311 R>G No ClinGen
ExAC
gnomAD
CA242601098
rs752539782
314 P>A No ClinGen
ExAC
gnomAD
CA6755020
rs752539782
314 P>S No ClinGen
ExAC
gnomAD
CA386342185
rs1316721415
319 C>Y No ClinGen
gnomAD
rs755874030
CA6755022
322 A>E No ClinGen
ExAC
gnomAD
CA386342236
rs1359635263
322 A>P No ClinGen
gnomAD
CA6755021
rs755874030
322 A>V No ClinGen
ExAC
gnomAD
CA6755025
rs371559185
323 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6755024
rs371559185
323 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386342284
rs1482486099
324 G>D No ClinGen
gnomAD
rs144090047
CA6755027
324 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs981595047
CA242601172
326 R>* No ClinGen
Ensembl
TCGA novel 328 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 330 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867509700
CA242601181
332 G>R No ClinGen
Ensembl
CA386342624
rs1185752368
337 K>Q No ClinGen
gnomAD
TCGA novel 339 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386342650
rs1244003271
339 A>T No ClinGen
TOPMed
gnomAD
CA242601189
rs982156482
340 L>P No ClinGen
TOPMed
gnomAD
rs1261896158
CA386342793
345 C>F No ClinGen
TOPMed
TCGA novel 345 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411644468
CA386342908
351 Y>C No ClinGen
gnomAD
CA386342909
rs1411644468
351 Y>F No ClinGen
gnomAD
CA386342956
rs1171053508
354 T>I No ClinGen
gnomAD
CA6755042
rs767200264
358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6755044
rs201165064
359 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763815802
CA6755045
360 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1366607621
CA386343231
361 S>C No ClinGen
TOPMed
CA242604027
rs879081926
362 Q>E No ClinGen
Ensembl
rs753815419
CA6755046
363 V>L No ClinGen
ExAC
rs1430856779
CA386343297
371 N>K No ClinGen
gnomAD
CA386343296
rs1438379295
371 N>S No ClinGen
TOPMed
CA6755048
rs766502251
372 S>C No ClinGen
ExAC
gnomAD
rs766502251
CA386343303
372 S>F No ClinGen
ExAC
gnomAD
rs367627562
CA242604047
378 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
rs1185845
CA242604064
379 E>K No ClinGen
Ensembl
CA242604073
rs1050565135
380 V>L No ClinGen
TOPMed
gnomAD
rs1050565135
CA386343389
380 V>M No ClinGen
TOPMed
gnomAD
CA6755050
rs755077426
381 S>T No ClinGen
ExAC
gnomAD
CA6755051
rs781627273
382 T>A No ClinGen
ExAC
gnomAD
CA6755053
rs756553133
383 V>A No ClinGen
ExAC
gnomAD
CA242604107
rs866514947
383 V>I No ClinGen
Ensembl
rs777961588
CA6755054
385 G>V No ClinGen
ExAC
TCGA novel 386 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866256014
CA242604123
387 L>F No ClinGen
Ensembl
TCGA novel 388 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266837635
CA386343567
391 S>N No ClinGen
gnomAD
rs771394333
CA6755056
392 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA386343652
rs1472151778
398 A>P No ClinGen
gnomAD
CA386343678
rs1409755178
400 S>T No ClinGen
gnomAD
rs1363149779
CA386343708
402 D>E No ClinGen
TOPMed
gnomAD
CA386343697
rs1322356936
402 D>H No ClinGen
gnomAD
CA6755058
rs774893288
405 A>P No ClinGen
ExAC
gnomAD
rs771555154
CA6755060
409 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA6755059
rs368216155
409 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1163611912
CA386344430
412 V>L No ClinGen
TOPMed
gnomAD
rs1370517732
CA386344435
413 R>G No ClinGen
TOPMed
gnomAD
rs1336720823
CA386344458
415 D>E No ClinGen
gnomAD
rs1331365871
CA386344456
415 D>G No ClinGen
gnomAD
CA386344460
rs1233165834
416 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 416 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386344481
rs1447676090
419 Q>E No ClinGen
gnomAD
rs1313206520
CA386344490
420 G>S No ClinGen
gnomAD
CA242605037
rs1020845522
420 G>V No ClinGen
gnomAD
CA6755067
rs373952165
421 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6755068
rs151222227
421 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6755069
rs542271303
422 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6755070
rs140444104
425 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386344528
rs1274931299
426 P>S No ClinGen
gnomAD
rs375736197
CA6755076
429 I>V No ClinGen
ESP
ExAC
gnomAD
CA242559318
rs978795089
430 N>S No ClinGen
gnomAD
CA386340312
rs1298731862
432 T>P No ClinGen
TOPMed
rs184476139
CA6755077
433 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242559321
rs925639586
433 I>V No ClinGen
Ensembl
CA242559325
rs988501366
434 N>H No ClinGen
Ensembl
CA6755078
rs202212280
435 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1593608707
CA386340353
436 T>K No ClinGen
Ensembl
CA6755079
rs746682588
438 T>A No ClinGen
ExAC
gnomAD
rs1593608723
CA386340383
439 E>K No ClinGen
Ensembl
CA6755080
rs768240762
440 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA242559345
rs1049672998
441 P>S No ClinGen
Ensembl
rs1593608745
CA386340425
442 A>G No ClinGen
Ensembl
rs761578497
CA6755082
442 A>T No ClinGen
ExAC
gnomAD
rs769617449
CA6755083
443 T>A No ClinGen
ExAC
gnomAD
CA386340452
rs1374180202
445 E>Q No ClinGen
gnomAD
CA242559352
rs147689138
446 T>I No ClinGen
ESP
ExAC
gnomAD
CA6755084
rs147689138
446 T>S No ClinGen
ESP
ExAC
gnomAD
rs866585573
CA242559354
447 S>L No ClinGen
TOPMed
CA6755085
rs762946398
448 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1470462185
CA386340521
450 N>S No ClinGen
gnomAD
CA386340535
rs1479784846
451 K>I No ClinGen
TOPMed
rs767727994
CA6755086
451 K>Q No ClinGen
ExAC
gnomAD
rs1382989999
CA386340586
455 K>T No ClinGen
gnomAD
CA386340607
rs1319017882
457 L>Q No ClinGen
gnomAD
CA6755088
rs574023442
458 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6755087
rs574023442
COSM74871
458 T>M ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6755090
rs76011019
461 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6755092
rs779268023
462 A>T No ClinGen
ExAC
gnomAD
CA386340667
rs1313166446
466 P>Q No ClinGen
TOPMed
CA386340666
rs1215458030
466 P>T No ClinGen
TOPMed
TCGA novel 467 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386340679
rs1437497673
468 L>V No ClinGen
gnomAD
rs1223837874
CA386340694
469 A>T No ClinGen
TOPMed
gnomAD
CA386340719
rs1593608822
471 N>H No ClinGen
Ensembl
CA386340725
rs1221987951
471 N>T No ClinGen
TOPMed
rs750955842
CA6755093
475 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA6755094
rs758850759
479 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA6755095
rs780515793
480 V>M No ClinGen
ExAC
gnomAD
CA386340998
rs1490347642
482 M>V No ClinGen
gnomAD
CA386341052
rs1386269875
484 R>W No ClinGen
TOPMed
gnomAD
TCGA novel 486 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431994476
CA386341148
487 E>K No ClinGen
gnomAD
CA242559829
rs911883315
489 P>L No ClinGen
TOPMed
gnomAD
CA386341387
rs911883315
489 P>R No ClinGen
TOPMed
gnomAD
rs780715408
CA242559842
491 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs780715408
CA6755117
491 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA6755119
rs755840852
493 A>V No ClinGen
ExAC
gnomAD
rs1273579970
CA386341479
496 G>R No ClinGen
TOPMed
TCGA novel 497 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555286923
CA6755120
500 S>G No ClinGen
Ensembl
rs777537217
CA6755122
503 D>V No ClinGen
ExAC
gnomAD
CA242559856
rs765444385
509 P>A No ClinGen
TOPMed
gnomAD
CA386341722
rs1204424729
513 V>I No ClinGen
TOPMed
gnomAD
CA386341724
rs1204424729
513 V>L No ClinGen
TOPMed
gnomAD
rs1481831001
CA386341749
515 S>G No ClinGen
gnomAD
TCGA novel 516 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA242559861
rs1032366323
516 T>I No ClinGen
gnomAD
CA6755126
rs745747989
517 V>I No ClinGen
ExAC
gnomAD
CA386341796
rs1185554319
518 S>P No ClinGen
gnomAD
rs958006262
CA242559864
520 T>I No ClinGen
TOPMed
gnomAD
rs768647176
CA6755127
522 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA242559867
rs988199714
523 M>V No ClinGen
gnomAD
rs1352629117
CA386341877
524 V>I No ClinGen
TOPMed
gnomAD
rs1331738667
CA386341954
528 T>A No ClinGen
gnomAD
rs761772896
CA6755129
528 T>I No ClinGen
ExAC
gnomAD
rs765483436
CA6755130
529 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1309739535
CA386342130
535 S>G No ClinGen
TOPMed
gnomAD
rs1475721623
CA386342140
535 S>N No ClinGen
TOPMed
rs1199708496
CA386342155
535 S>R No ClinGen
gnomAD
rs762532781
CA242559879
536 T>I No ClinGen
Ensembl
rs766670831
CA6755134
538 G>W No ClinGen
ExAC
gnomAD
CA6755135
rs752039646
539 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs755466348
CA6755136
543 D>V No ClinGen
ExAC
gnomAD
rs1593610229
CA386342345
544 E>G No ClinGen
Ensembl
CA386342379
rs1243909655
545 T>I No ClinGen
gnomAD
CA386342549
rs1190693816
551 S>N No ClinGen
TOPMed
CA6755137
rs767888932
552 T>S No ClinGen
ExAC
CA6755138
rs752291859
553 K>N No ClinGen
ExAC
gnomAD
TCGA novel 556 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs74623462
CA242560064
557 D>A No ClinGen
ExAC
gnomAD
rs74623462
CA6755154
557 D>V No ClinGen
ExAC
gnomAD
rs1042399443
CA242560069
560 Y>H No ClinGen
gnomAD
rs763634516
CA6755159
563 P>S No ClinGen
ExAC
gnomAD
CA6755160
rs753573603
564 A>T No ClinGen
ExAC
gnomAD
rs370973683
CA6755162
565 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1275782898
CA386343093
566 K>N No ClinGen
gnomAD
CA386343100
rs1222269847
567 I>M No ClinGen
gnomAD
CA6755164
rs758122687
567 I>V No ClinGen
ExAC
gnomAD
rs768655751
CA6755166
569 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6755167
rs768655751
569 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6755168
rs747743641
569 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386343111
rs747743641
569 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1435897710
CA386343130
572 T>I No ClinGen
gnomAD
rs1308689742
CA386343137
573 H>L No ClinGen
TOPMed
gnomAD
rs1308689742
CA386343136
573 H>R No ClinGen
TOPMed
gnomAD
rs1352358615
CA386343140
574 A>T No ClinGen
gnomAD
CA6755171
rs774432937
576 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA242560090
rs771532784
577 T>M No ClinGen
gnomAD
rs760006399
CA6755172
578 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1565815294
CA386343180
579 F>I No ClinGen
Ensembl
TCGA novel 582 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386343407
rs1385087162
583 T>N No ClinGen
TOPMed
gnomAD
CA6755194
rs775671219
583 T>P No ClinGen
ExAC
gnomAD
CA386343432
rs1343070546
584 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386343505
rs769324391
589 A>P No ClinGen
ExAC
gnomAD
rs769324391
CA6755196
589 A>T No ClinGen
ExAC
gnomAD
rs540566979
CA6755197
591 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 592 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM200111
CA6755198
rs148983779
593 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA242560551
rs1018663104
594 G>E No ClinGen
Ensembl
CA6755201
rs561923097
596 R>Q No ClinGen
ExAC
gnomAD
CA6755202
rs766033572
604 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1443657088
CA386343725
604 F>V No ClinGen
gnomAD
rs1372016318
CA386343739
605 K>E No ClinGen
TOPMed
CA242560566
rs866706570
608 T>K No ClinGen
Ensembl
CA386343825
rs1373040710
611 V>M No ClinGen
TOPMed
gnomAD
rs1474700648
CA386343850
614 F>Y No ClinGen
gnomAD
TCGA novel 618 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1424778105
CA386343875
618 P>T No ClinGen
gnomAD
TCGA novel 619 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199552084
CA242560573
623 S>N No ClinGen
1000Genomes
gnomAD
CA386344616
rs1466728629
628 G>V No ClinGen
gnomAD
CA386344647
rs1355410097
633 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs772548086
CA6755218
634 D>E No ClinGen
ExAC
gnomAD
CA386344662
rs1283186479
635 Y>C No ClinGen
TOPMed
CA386344676
rs1401853075
637 L>S No ClinGen
gnomAD
rs1299980441
CA386344687
639 K>Q No ClinGen
TOPMed
gnomAD
rs1593614438
CA386344707
641 Q>R No ClinGen
Ensembl
CA386344732
rs1340999399
645 P>A No ClinGen
gnomAD
rs762495245
CA6755219
646 G>D No ClinGen
ExAC
gnomAD
rs748369209
CA242561859
653 V>I No ClinGen
Ensembl
CA386344804
rs1233515525
656 I>N No ClinGen
gnomAD
CA6755221
rs773982002
657 N>S No ClinGen
ExAC
gnomAD
rs1329661057
CA386344815
658 G>S No ClinGen
TOPMed
rs759341408
CA6755222
663 P>A No ClinGen
ExAC
gnomAD
CA242561890
rs868443435
663 P>H No ClinGen
Ensembl
CA386344879
rs1593614485
COSM1209352
667 I>V large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA386344885
rs1308037218
668 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6755224
rs375199545
671 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1296415917
CA386344939
675 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 681 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386344989
rs1197780271
683 A>S No ClinGen
gnomAD
CA6755226
rs764073895
684 V>I No ClinGen
ExAC
gnomAD
TCGA novel 688 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1460649084
CA386345062
692 G>D No ClinGen
TOPMed
CA6755274
rs775199757
692 G>S No ClinGen
ExAC
gnomAD
CA6755275
rs760440803
696 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs372296703
CA6755276
701 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761768406
CA6755278
703 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1182866482
CA386345141
704 S>F No ClinGen
TOPMed
CA386345136
rs1351494153
704 S>T No ClinGen
gnomAD
CA6755280
rs751737486
711 S>* No ClinGen
ExAC
gnomAD
rs375511576
CA6755279
711 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193917539
CA386345194
712 A>G No ClinGen
TOPMed
CA6755281
rs759685259
716 I>L No ClinGen
ExAC
gnomAD
CA6755282
rs767910383
717 R>C No ClinGen
ExAC
gnomAD
CA386345254
rs1381412283
721 I>M No ClinGen
gnomAD
rs2731021
CA242562474
722 Q>H No ClinGen
Ensembl
rs1398547370
CA386345255
722 Q>K No ClinGen
Ensembl
rs1226064830
CA386345268
723 D>E No ClinGen
TOPMed
gnomAD
CA6755283
rs752908767
COSM3728095
723 D>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA386345298
rs756441569
727 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1356594809
CA386345319
730 F>Y No ClinGen
TOPMed
rs559361222
CA242562480
733 I>V No ClinGen
1000Genomes
rs1322809745
CA386345383
735 C>G No ClinGen
gnomAD
CA386345400
rs1313743239
736 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA386345455
rs1565817456
741 C>R No ClinGen
Ensembl
rs1459312303
CA386345474
742 I>M No ClinGen
gnomAD
rs2930861
CA6755286
742 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6755287
rs757814858
745 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1460052838
CA386345516
746 G>A No ClinGen
gnomAD
CA386345508
rs1242697272
746 G>R No ClinGen
gnomAD
rs1415923388
CA386345538
748 L>V No ClinGen
gnomAD
rs1294285350
CA386345571
751 A>T No ClinGen
TOPMed
rs1459666075
CA386345605
753 I>T No ClinGen
TOPMed
rs779584088
CA6755291
756 T>I No ClinGen
ExAC
gnomAD
TCGA novel 756 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 756 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1593615251
CA386345649
757 S>P No ClinGen
Ensembl
CA386345659
rs1593615262
758 R>G No ClinGen
Ensembl
CA386345666
rs1593615267
758 R>S No ClinGen
Ensembl
CA386345688
rs1331631602
760 A>V No ClinGen
TOPMed
gnomAD
rs746602412
CA6755292
761 I>V No ClinGen
ExAC
gnomAD
rs958144915
CA242562504
762 V>A No ClinGen
Ensembl
TCGA novel 764 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6755293
rs772818139
COSM281631
768 K>N large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6755295
rs761677309
775 P>L No ClinGen
ExAC
gnomAD
TCGA novel 775 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386345920
rs1219577136
779 V>A No ClinGen
gnomAD
CA386345929
rs1262786480
780 R>Q No ClinGen
TOPMed
gnomAD
CA242562521
rs950318999
786 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA242562522
rs1041891214
789 A>T No ClinGen
TOPMed
gnomAD
CA6755297
rs773269246
790 P>L No ClinGen
ExAC
gnomAD
CA242562528
rs903381363
791 L>* No ClinGen
TOPMed
gnomAD

No associated diseases with Q9Y5Z7

2 regional properties for Q9Y5Z7

Type Name Position InterPro Accession
domain Fibronectin type III 357 - 675 IPR003961-1
domain Fibronectin type III 678 - 778 IPR003961-2

Functions

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

10 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
histone methyltransferase complex A multimeric complex that is able to catalyze the addition of methyl groups to histone proteins.
MLL1 complex A protein complex that can methylate lysine-4 of histone H3. MLL1/MLL is the catalytic methyltransferase subunit, and the complex also contains the core components ASH2L, HCFC1/HCF1 WDR5 and RBBP5.
MLL1/2 complex A protein complex that can methylate lysine-4 of histone H3, and which contains either of the protein subunits MLL1 or MLL2 in human, or equivalent in other species.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Set1C/COMPASS complex A conserved protein complex that catalyzes methylation of histone H3. In Saccharomyces the complex contains Shg1p, Sdc1p, Swd1p, Swd2p, Swd3p, Spp1p, Bre2p, and the trithorax-related Set1p; in mammals it contains the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30.

1 GO annotations of molecular function

Name Definition
transcription coactivator activity A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

6 GO annotations of biological process

Name Definition
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
histone H3-K4 methylation The modification of histone H3 by addition of one or more methyl groups to lysine at position 4 of the histone.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
viral process A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5RKG2 Hcfc2 Host cell factor 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAAPSLLNWR RVSSFTGPVP RARHGHRAVA IRELMIIFGG GNEGIADELH VYNTATNQWF
70 80 90 100 110 120
LPAVRGDIPP GCAAHGFVCD GTRILVFGGM VEYGRYSNEL YELQASRWLW KKVKPHPPPS
130 140 150 160 170 180
GLPPCPRLGH SFSLYGNKCY LFGGLANESE DSNNNVPRYL NDFYELELQH GSGVVGWSIP
190 200 210 220 230 240
VTKGVVPSPR ESHTAVIYCK KDSGSPKMYV FGGMCGARLD DLWQLDLETM SWSKPETKGT
250 260 270 280 290 300
VPLPRSLHTA SVIGNKMYIF GGWVPHKGEN TETSPHDCEW RCTSSFSYLN LDTTEWTTLV
310 320 330 340 350 360
SDSQEDKKNS RPRPRAGHCA VAIGTRLYFW SGRDGYKKAL NSQVCCKDLW YLDTEKPPAP
370 380 390 400 410 420
SQVQLIKATT NSFHVKWDEV STVEGYLLQL STDLPYQAAS SDSSAAPNMQ GVRMDPHRQG
430 440 450 460 470 480
SNNIVPNSIN DTINSTKTEQ PATKETSMKN KPDFKALTDS NAILYPSLAS NASNHNSHVV
490 500 510 520 530 540
DMLRKNEGPH TSANVGVLSS CLDVRTVIPE TSVSSTVSST QTMVTQQTIK TESSSTNGAV
550 560 570 580 590 600
VKDETSLTTF STKSEVDETY ALPATKISRV ETHATATPFS KETPSNPVAT VKAGERQWCD
610 620 630 640 650 660
VGIFKNNTAL VSQFYLLPKG KQSISKVGNA DVPDYSLLKK QDLVPGTGYR FRVAAINGCG
670 680 690 700 710 720
IGPFSKISEF KTCIPGFPGA PSAVRISKNV EGIHLSWEPP TSPSGNILEY SAYLAIRTAQ
730 740 750 760 770 780
IQDNPSQLVF MRIYCGLKTS CIVTAGQLAN AHIDYTSRPA IVFRISAKNE KGYGPATQVR
790
WLQGNNKKAP LN