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

21 structures for Q15561

Entry ID Method Resolution Chain Position Source
5GZB X-ray 270 A A 36-139 PDB
5NO6 X-ray 288 A I/N 40-112 PDB
5OAQ X-ray 195 A A 217-434 PDB
6GE3 X-ray 185 A A 216-434 PDB
6GE4 X-ray 197 A A 216-434 PDB
6GE5 X-ray 205 A A 216-434 PDB
6GE6 X-ray 180 A A 216-434 PDB
6GEC X-ray 170 A A 216-434 PDB
6GEE X-ray 196 A A 216-434 PDB
6GEG X-ray 223 A A 216-434 PDB
6GEI X-ray 165 A A 216-434 PDB
6GEK X-ray 228 A A/B 216-434 PDB
6HIK X-ray 165 A A 216-434 PDB
6Q2X X-ray 210 A A 217-434 PDB
6Q36 X-ray 201 A A/B 217-434 PDB
6SEN X-ray 165 A A/B 217-434 PDB
6SEO X-ray 255 A A 217-434 PDB
8A8R X-ray 170 A A/B 216-434 PDB
8C17 X-ray 225 A A 217-434 PDB
8CAA X-ray 200 A A/B 217-434 PDB
AF-Q15561-F1 Predicted AlphaFoldDB

346 variants for Q15561

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1354224261
CA383387054
3 G>A No ClinGen
gnomAD
CA383387035
rs1382596093
3 G>S No ClinGen
TOPMed
CA6392975
rs774772555
4 T>M No ClinGen
ExAC
gnomAD
rs764221350
CA6392980
6 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs138303433
CA6392982
7 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383387272
rs1591572456
9 T>I No ClinGen
Ensembl
rs1370141276
CA383387407
14 S>N No ClinGen
gnomAD
CA6392984
rs765447889
16 P>S No ClinGen
ExAC
gnomAD
CA383387453
rs1591572462
17 T>P No ClinGen
Ensembl
CA6392985
rs201308829
18 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1239272473
CA383387492
19 P>S No ClinGen
TOPMed
rs1591572470
CA383387576
22 S>T No ClinGen
Ensembl
CA6392987
rs780013542
23 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6392986
rs758180158
23 T>P No ClinGen
ExAC
gnomAD
rs527238579
COSM938668
CA6392989
24 A>T large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs966389315
CA231651418
26 G>R No ClinGen
Ensembl
CA383387718
rs1591572496
27 G>V No ClinGen
Ensembl
CA6392992
rs747720325
28 S>T No ClinGen
ExAC
gnomAD
rs200185504
CA6392993
30 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA383387799
rs200185504
30 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA383387810
rs1185657389
30 A>V No ClinGen
gnomAD
rs777338239
CA383387822
31 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs777338239
COSM431012
CA6392994
31 L>R breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6392995
rs201697096
32 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs772283648
CA6392996
33 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs776020891
CA6392997
35 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs376160263
CA6392999
36 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393000
rs776850143
37 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs776850143
CA383387989
37 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA383388018
rs1429257676
38 D>G No ClinGen
gnomAD
rs1052141
CA6393002
39 A>E No ClinGen
ExAC
gnomAD
CA231651448
rs1052141
39 A>G No ClinGen
ExAC
gnomAD
rs1366402152
CA383388038
39 A>T No ClinGen
TOPMed
gnomAD
CA383388092
rs1219806086
41 G>S No ClinGen
TOPMed
gnomAD
rs763254392
CA6393004
42 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs751357181
CA6393006
44 S>R No ClinGen
ExAC
gnomAD
CA6393007
rs143364899
45 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393009
rs752179602
47 I>T No ClinGen
ExAC
gnomAD
rs755618933
CA6393010
52 Q>* No ClinGen
ExAC
CA231651462
rs769070539
52 Q>R No ClinGen
Ensembl
rs113303358
CA231651464
53 E>G No ClinGen
Ensembl
CA383388412
rs1383690211
56 A>D No ClinGen
gnomAD
COSM1228853
rs148347828
CA6393012
56 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756948709
CA6393013
57 I>V No ClinGen
ExAC
gnomAD
rs780501836
CA6393014
59 P>L No ClinGen
ExAC
gnomAD
CA6393017
rs777328851
61 C>W No ClinGen
ExAC
gnomAD
rs200040147
CA6393018
62 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA6393019
rs769725571
64 R>C No ClinGen
ExAC
gnomAD
CA383388576
rs769725571
64 R>G No ClinGen
ExAC
gnomAD
COSM938669
CA6393020
rs375587017
64 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs769725571
CA383388574
64 R>S No ClinGen
ExAC
gnomAD
CA6393021
rs763014154
68 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs377141915
CA6393022
69 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393024
rs148965461
70 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383388736
rs1295766311
71 E>K No ClinGen
TOPMed
rs752536361
CA6393026
72 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA231651495
rs939971926
73 K>R No ClinGen
TOPMed
CA6393028
rs763455765
74 M>I No ClinGen
ExAC
gnomAD
COSM938679
rs1291664123
CA383393063
77 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
CA6393046
rs202176942
77 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383393069
rs1591583945
78 N>D No ClinGen
Ensembl
rs1173967174
CA383393136
83 R>C No ClinGen
gnomAD
rs764955264
CA6393050
83 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA383393147
rs1214087190
84 Y>H No ClinGen
gnomAD
rs1291388277
CA383393166
85 I>T No ClinGen
gnomAD
CA383393183
rs1351833187
86 K>N No ClinGen
gnomAD
rs750064191
CA6393051
88 R>Q No ClinGen
ExAC
gnomAD
CA231655652
rs1020125646
88 R>W No ClinGen
TOPMed
gnomAD
rs758150762
CA6393052
92 T>A No ClinGen
ExAC
gnomAD
rs1222867658
CA383393252
92 T>I No ClinGen
TOPMed
gnomAD
rs1003099496
CA231655656
93 R>C No ClinGen
Ensembl
CA383393275
rs756562199
94 T>I No ClinGen
ExAC
gnomAD
CA6393055
rs756562199
94 T>S No ClinGen
ExAC
gnomAD
rs1484104558
CA383393311
97 Q>* No ClinGen
gnomAD
rs1464770915
CA383393333
98 V>F No ClinGen
gnomAD
CA6393074
rs764396295
99 S>P No ClinGen
ExAC
gnomAD
rs1480246582
CA383393375
104 V>L No ClinGen
Ensembl
rs1163379333
CA383393383
105 L>R No ClinGen
gnomAD
rs1368570211
CA383393389
106 A>V No ClinGen
gnomAD
rs1459333292
CA383393392
107 R>C No ClinGen
gnomAD
CA383393394
rs1591584846
107 R>P No ClinGen
Ensembl
rs1287094137
CA383393398
108 R>C No ClinGen
gnomAD
rs754294061
CA6393075
108 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA383393401
rs1591584865
109 K>Q No ClinGen
Ensembl
rs1321453733
CA383393414
110 A>V No ClinGen
TOPMed
gnomAD
CA6393076
rs757774295
111 R>C No ClinGen
ExAC
gnomAD
CA383393418
rs1394515961
111 R>H No ClinGen
TOPMed
gnomAD
CA383393419
rs1394515961
111 R>L No ClinGen
TOPMed
gnomAD
CA6393078
rs746015510
112 E>K No ClinGen
ExAC
gnomAD
rs1334085813
CA383393429
113 I>F No ClinGen
TOPMed
rs1565542235
CA383393432
113 I>M No ClinGen
Ensembl
CA6393079
rs758536351
113 I>T No ClinGen
ExAC
gnomAD
CA383393434
rs780374211
114 Q>* No ClinGen
ExAC
gnomAD
CA6393080
rs780374211
114 Q>E No ClinGen
ExAC
gnomAD
rs941912696
CA231656054
115 A>G No ClinGen
TOPMed
gnomAD
rs941912696
CA383393444
115 A>V No ClinGen
TOPMed
gnomAD
rs1236362065
CA383393451
116 K>E No ClinGen
TOPMed
gnomAD
CA383393469
rs1378779269
117 L>Q No ClinGen
TOPMed
CA383393482
rs1459214277
118 K>T No ClinGen
TOPMed
CA6393103
rs769828815
119 D>H No ClinGen
ExAC
gnomAD
CA6393104
rs773320291
120 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs749267494
CA6393105
121 A>E No ClinGen
ExAC
gnomAD
CA383395103
rs1230053937
123 K>E No ClinGen
gnomAD
rs1193727796
CA383395109
123 K>R No ClinGen
TOPMed
CA6393106
rs770424147
124 D>N No ClinGen
ExAC
gnomAD
rs1591589393
CA383395150
125 K>R No ClinGen
Ensembl
rs1337181746
CA383395241
129 S>N No ClinGen
TOPMed
rs1337181746
CA383395244
129 S>T No ClinGen
TOPMed
CA383395274
rs1273998522
130 M>R No ClinGen
TOPMed
CA383395271
rs1273998522
130 M>T No ClinGen
TOPMed
rs767142386
CA383395294
131 A>P No ClinGen
ExAC
gnomAD
rs767142386
CA6393109
131 A>T No ClinGen
ExAC
gnomAD
CA383395326
rs1186903984
133 M>L No ClinGen
gnomAD
rs762215851
COSM1228852
CA6393111
134 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs375377144
CA6393113
136 A>V No ClinGen
ESP
ExAC
gnomAD
rs763394861
CA6393114
137 Q>R No ClinGen
ExAC
gnomAD
COSM1492893
rs117484952
CA6393117
141 A>T kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383395453
rs1326407755
142 T>M No ClinGen
TOPMed
CA383395484
rs1436866573
145 H>N No ClinGen
gnomAD
CA383395492
rs1281870739
145 H>R No ClinGen
gnomAD
rs752507117
CA6393119
146 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA383395528
CA383395527
rs1292023322
147 S>R No ClinGen
TOPMed
gnomAD
CA383395540
rs1459552661
148 M>T No ClinGen
TOPMed
rs576443873
CA231658863
149 A>V No ClinGen
gnomAD
rs1290903018
CA383395573
COSM1512031
151 A>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA383395575
rs1290903018
151 A>T No ClinGen
TOPMed
gnomAD
CA6393122
rs535488654
151 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA231658870
rs929337081
152 R>Q No ClinGen
TOPMed
gnomAD
CA6393123
rs369932433
152 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393124
rs770787414
153 G>V No ClinGen
ExAC
gnomAD
CA383395616
rs150590022
155 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6393126
rs150590022
155 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs373626483
CA6393127
156 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393128
rs139665156
156 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1331834037
CA383395651
158 A>S No ClinGen
TOPMed
gnomAD
rs1331834037
CA383395649
158 A>T No ClinGen
TOPMed
gnomAD
CA383395657
rs1339358801
158 A>V No ClinGen
gnomAD
rs367751748
CA6393130
159 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1285461716
CA383395676
160 S>* No ClinGen
gnomAD
CA6393131
rs149743004
161 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6393146
rs779568456
163 W>R No ClinGen
ExAC
gnomAD
rs1565545430
CA383395730
164 Q>E No ClinGen
Ensembl
CA231659732
rs987214567
164 Q>L No ClinGen
Ensembl
CA231659745
rs746594673
166 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA6393147
rs746594673
166 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1448859001
CA383395748
167 L>S No ClinGen
TOPMed
rs866378032
CA231659767
169 G>D No ClinGen
Ensembl
rs200746125
CA6393149
172 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6393150
rs144567026
173 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440072332
CA383395852
174 S>F No ClinGen
gnomAD
CA6393152
rs774674986
175 H>L No ClinGen
ExAC
gnomAD
rs766365802
CA6393183
179 P>R No ClinGen
ExAC
gnomAD
rs1555127560
CA383396402
179 P>S No ClinGen
Ensembl
CA6393184
rs556052032
181 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs935421118
CA231660254
183 Q>E No ClinGen
Ensembl
CA383396467
rs1309375945
184 T>A No ClinGen
gnomAD
CA231660256
rs989537357
184 T>I No ClinGen
TOPMed
gnomAD
rs754439456
CA6393185
185 Y>D No ClinGen
ExAC
gnomAD
rs755806437
CA6393188
187 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA6393187
rs747692032
187 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA231660280
rs896397769
189 P>T No ClinGen
TOPMed
CA6393189
rs779133956
190 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6393190
rs370063341
192 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1186747513
CA383396587
195 G>R No ClinGen
gnomAD
CA383396744
rs1185664866
197 E>G No ClinGen
TOPMed
CA383396738
rs1350253314
197 E>Q No ClinGen
TOPMed
gnomAD
rs1224622323
CA383396761
198 S>F No ClinGen
gnomAD
rs1484777838
CA383396771
199 P>L No ClinGen
TOPMed
rs1309624293
CA383396766
199 P>S No ClinGen
gnomAD
CA6393218
rs763197038
200 A>S No ClinGen
ExAC
gnomAD
CA6393219
rs763197038
200 A>T No ClinGen
ExAC
gnomAD
CA231661595
rs146443432
200 A>V No ClinGen
ESP
gnomAD
rs545767625
CA6393220
201 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1565546622
CA383396797
202 P>S No ClinGen
Ensembl
rs371373848
CA6393224
203 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371373848
CA6393223
COSM178540
203 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs753500375
CA6393226
205 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs140809000
CA6393225
205 S>T No ClinGen
ESP
ExAC
gnomAD
CA6393227
rs756972096
207 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA6393228
rs374365771
208 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393230
rs755432905
209 P>L No ClinGen
ExAC
gnomAD
rs1591592014
CA383396873
209 P>S No ClinGen
Ensembl
CA6393231
rs199662990
210 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756183214
CA6393233
211 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs143114313
CA6393234
211 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1021485033
CA231661727
215 Q>E No ClinGen
TOPMed
gnomAD
rs1440879034
CA383396992
217 R>C No ClinGen
TOPMed
gnomAD
CA6393235
rs151141907
217 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367723028
CA6393237
219 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480094508
CA383397105
222 S>P No ClinGen
TOPMed
CA231661752
rs957492113
223 K>R No ClinGen
TOPMed
rs1206572490
CA383397207
CA383397205
225 W>C No ClinGen
gnomAD
CA6393239
rs375896668
226 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1488061158
CA383397264
228 E>K No ClinGen
gnomAD
CA383397284
rs1252042208
229 F>L No ClinGen
TOPMed
CA6393240
rs775449465
230 S>C No ClinGen
ExAC
gnomAD
rs1253793632
CA383397329
232 F>S No ClinGen
gnomAD
rs141118300
CA6393241
236 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763628398
CA6393242
237 Q>K No ClinGen
ExAC
gnomAD
rs1410988798
CA383397459
239 P>A No ClinGen
TOPMed
gnomAD
CA6393243
rs71583736
239 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383397462
rs1410988798
239 P>S No ClinGen
TOPMed
gnomAD
CA383397488
rs1436293237
240 D>G No ClinGen
gnomAD
CA383397513
rs765047253
241 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA6393245
rs765047253
241 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6393276
rs779884533
242 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs1591592919
CA383398109
245 H>P No ClinGen
Ensembl
rs1007919145
CA231662944
246 L>P No ClinGen
TOPMed
CA6393278
rs768680578
247 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1402110482
CA383398140
247 F>Y No ClinGen
gnomAD
rs1415302307
CA383398158
248 V>E No ClinGen
gnomAD
CA231662964
rs1017929050
248 V>L No ClinGen
TOPMed
gnomAD
CA383398152
rs1017929050
248 V>M No ClinGen
TOPMed
gnomAD
rs1490699816
CA383398192
250 I>T No ClinGen
TOPMed
CA383398199
rs1348391906
251 G>S No ClinGen
gnomAD
rs781323637
CA6393279
252 Q>* No ClinGen
ExAC
gnomAD
CA383398227
rs748114401
252 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1208933668
CA383398320
258 S>G No ClinGen
TOPMed
CA383398342
rs1591592964
259 D>A No ClinGen
Ensembl
CA231663005
rs903431864
259 D>E No ClinGen
TOPMed
gnomAD
rs1225713927
CA383398340
259 D>N No ClinGen
gnomAD
rs1485412434
CA383398352
260 P>S No ClinGen
gnomAD
CA231663014
rs202053088
261 Y>C No ClinGen
1000Genomes
CA383398371
rs202053088
261 Y>S No ClinGen
1000Genomes
CA6393283
COSM938723
rs762656664
263 E>K endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs201149385
CA6393285
265 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA383398443
rs761078905
267 I>F No ClinGen
ExAC
TOPMed
rs761078905
CA6393286
267 I>V No ClinGen
ExAC
TOPMed
COSM1267595
rs141718322
CA6393287
268 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6393288
rs754304508
268 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs754304508
CA6393289
268 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs765302453
CA6393290
271 Y>C No ClinGen
ExAC
gnomAD
CA383398501
rs765302453
271 Y>F No ClinGen
ExAC
gnomAD
rs373793296
CA6393292
275 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1409156460
CA383398581
277 K>E No ClinGen
gnomAD
CA383398605
rs1337348966
278 K>T No ClinGen
gnomAD
rs138509952
CA6393295
284 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs138509952
CA6393296
284 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs147065257
CA383398729
287 R>P No ClinGen
ESP
TOPMed
gnomAD
rs147065257
CA231663147
287 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA231663136
rs555272304
287 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
rs769682182
CA6393298
288 G>R No ClinGen
ExAC
gnomAD
CA383398746
rs1340612123
289 P>H No ClinGen
gnomAD
rs867226875
CA231663155
289 P>S No ClinGen
Ensembl
rs777335307
CA383398762
290 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA6393299
rs777335307
290 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA6393300
rs571778933
291 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs534152841
CA6393301
292 A>T No ClinGen
1000Genomes
ExAC
CA383398790
rs1252243357
293 F>I No ClinGen
TOPMed
rs759218732
CA6393303
295 L>V No ClinGen
ExAC
gnomAD
rs776992627
CA6393305
298 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1313720511
CA383381703
301 D>N No ClinGen
gnomAD
rs763983673
CA6393333
304 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs753653815
CA6393334
305 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA383381739
COSM3704066
rs1265923337
306 I>F liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs529565656
CA6393336
306 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA383381749
rs758015153
307 E>D No ClinGen
ExAC
gnomAD
rs745449009
CA6393337
307 E>K No ClinGen
ExAC
gnomAD
rs779726504
CA6393339
308 D>V No ClinGen
ExAC
gnomAD
CA231658255
rs1028228180
310 G>D No ClinGen
TOPMed
gnomAD
rs867635120
CA231658277
312 S>F No ClinGen
Ensembl
CA383381828
rs1591603359
314 Y>* No ClinGen
Ensembl
rs536669411
CA6393345
314 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs536669411
CA6393344
314 Y>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6393346
rs774546561
316 V>A No ClinGen
ExAC
gnomAD
rs759741797
CA6393347
317 S>P No ClinGen
ExAC
gnomAD
rs1441684016
CA383381935
322 S>I No ClinGen
TOPMed
CA383381933
rs1441684016
322 S>T No ClinGen
TOPMed
rs11550887
CA6393350
VAR_052279
323 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1172254434
CA383381980
324 E>D No ClinGen
TOPMed
CA231658333
rs987014448
324 E>K No ClinGen
TOPMed
gnomAD
rs753722673
CA6393352
325 N>K No ClinGen
ExAC
gnomAD
CA383382080
rs1482024630
328 I>S No ClinGen
gnomAD
rs200483208
CA6393353
329 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6393354
rs371946304
330 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393355
rs749911955
331 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA6393357
rs779566440
332 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs912429601
CA231658353
333 K>T No ClinGen
TOPMed
CA231658377
rs76933440
338 G>D No ClinGen
Ensembl
rs1263352356
CA383382254
338 G>S No ClinGen
gnomAD
CA6393359
rs767356667
339 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1307767017
CA383382295
340 Q>* No ClinGen
TOPMed
rs1223331098
CA383382305
340 Q>H No ClinGen
TOPMed
rs1417731247
CA383382328
342 V>L No ClinGen
gnomAD
rs757656318
CA6393380
348 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA383383162
rs1412328792
350 A>V No ClinGen
TOPMed
CA6393381
rs143259791
351 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746321600
CA6393382
351 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1182324160
CA383383185
352 Y>* No ClinGen
TOPMed
CA231659888
rs369711969
352 Y>F No ClinGen
ESP
TOPMed
gnomAD
CA383383216
rs1253693371
355 G>R No ClinGen
gnomAD
CA383383230
rs1591605094
356 H>R No ClinGen
Ensembl
CA383383225
rs1482910821
356 H>Y No ClinGen
TOPMed
rs772765432
CA6393384
357 Y>* No ClinGen
ExAC
gnomAD
rs1419356207
CA383383272
359 Y>* No ClinGen
TOPMed
gnomAD
CA383383263
rs1184865351
359 Y>D No ClinGen
gnomAD
rs148295237
CA6393385
360 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383383281
rs1172939530
360 R>H No ClinGen
TOPMed
gnomAD
CA6393386
rs148295237
360 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776863179
CA6393387
361 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1326238086
CA383383313
363 R>Q No ClinGen
gnomAD
rs887754938
COSM938733
CA231659908
363 R>W endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA383383337
rs1396026469
365 P>L No ClinGen
TOPMed
gnomAD
CA383383335
rs1396026469
365 P>Q No ClinGen
TOPMed
gnomAD
rs1379140974
CA687174376
367 C>* No ClinGen
TOPMed
rs1436724825
CA383383408
370 M>I No ClinGen
TOPMed
rs1388733012
CA383383423
372 N>D No ClinGen
TOPMed
rs1362508195
CA383383426
372 N>S No ClinGen
gnomAD
rs1388733012
CA383383424
372 N>Y No ClinGen
TOPMed
CA6393389
rs769507018
375 H>L No ClinGen
ExAC
gnomAD
rs773002468
CA6393390
375 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs141376355
CA6393391
376 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393392
rs766383485
378 K>Q No ClinGen
ExAC
gnomAD
rs373443172
CA6393393
378 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6393395
rs766970807
383 K>E No ClinGen
ExAC
gnomAD
rs1486462821
CA383383590
383 K>T No ClinGen
gnomAD
rs568432444
CA6393396
384 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs910307904
CA383383614
385 M>L No ClinGen
TOPMed
rs910307904
CA231660015
385 M>V No ClinGen
TOPMed
CA383383631
rs1475123488
386 M>L No ClinGen
gnomAD
CA6393398
rs755845240
386 M>T No ClinGen
ExAC
gnomAD
CA383383684
rs1316966542
389 V>M No ClinGen
TOPMed
gnomAD
CA231660039
rs902014352
391 E>D No ClinGen
TOPMed
CA383383785
rs1591605200
394 T>P No ClinGen
Ensembl
CA231660213
rs1035099586
403 D>N No ClinGen
Ensembl
CA231660220
rs896503133
405 Q>* No ClinGen
Ensembl
CA383384118
rs1279803067
405 Q>R No ClinGen
gnomAD
CA383384150
rs912933244
COSM1288412
406 E>D autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA383384130
rs1393998467
406 E>Q No ClinGen
gnomAD
CA383384166
rs1174306516
407 T>N No ClinGen
gnomAD
CA231660243
rs1020888840
410 C>F No ClinGen
TOPMed
gnomAD
CA383384209
rs1336523863
410 C>R No ClinGen
gnomAD
CA383384240
rs1301295641
411 I>N No ClinGen
TOPMed
gnomAD
CA6393433
rs768302943
413 Y>C No ClinGen
ExAC
gnomAD
CA383384279
rs1277055105
414 V>I No ClinGen
gnomAD
rs1195546851
CA383384305
416 E>V No ClinGen
gnomAD
rs1301466750
CA383384311
417 V>M No ClinGen
TOPMed
rs1365177021
CA383384334
419 A>T No ClinGen
TOPMed
rs779330383
CA231660279
423 G>R No ClinGen
gnomAD
CA6393437
rs751923397
426 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA231660318
rs368628079
427 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs1168238612
CA383384539
430 R>K No ClinGen
gnomAD
rs756149930
CA6393441
432 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs753228454
CA6393440
432 V>L No ClinGen
ExAC
gnomAD
CA6393442
rs777839953
433 K>E No ClinGen
ExAC
gnomAD
rs754035071
CA231660342
CA6393443
435 E>R No ClinGen
ExAC
gnomAD

No associated diseases with Q15561

2 regional properties for Q15561

Type Name Position InterPro Accession
domain TEA/ATTS domain 34 - 112 IPR000818
domain YAP binding domain 222 - 431 IPR041086

Functions

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

6 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
protein-DNA complex A macromolecular complex containing both protein and DNA molecules.
transcription regulator complex A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

4 GO annotations of molecular function

Name Definition
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 A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
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.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

9 GO annotations of biological process

Name Definition
cell fate specification The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.
embryo implantation Attachment of the blastocyst to the uterine lining.
embryonic organ development Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
hippo signaling The series of molecular signals mediated by the serine/threonine kinase Hippo or one of its orthologs. In Drosophila, Hippo in complex with the scaffold protein Salvador (Sav), phosphorylates and activates Warts (Wts), which in turn phosphorylates and inactivates the Yorkie (Yki) transcriptional activator. The core fly components hippo, sav, wts and mats are conserved in mammals as STK4/3 (MST1/2), SAV1/WW45, LATS1/2 and MOB1.
muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
positive regulation of stem cell population maintenance Any process that activates or increases the frequency, rate or extent of stem cell population maintenance.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
trophectodermal cell fate commitment The cell fate commitment of precursor cells that will become trophectoderm cells.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P48984 TEAD4 Transcriptional enhancer factor TEF-3 Gallus gallus (Chicken) PR
Q62296 Tead4 Transcriptional enhancer factor TEF-3 Mus musculus (Mouse) PR
10 20 30 40 50 60
MEGTAGTITS NEWSSPTSPE GSTASGGSQA LDKPIDNDAE GVWSPDIEQS FQEALAIYPP
70 80 90 100 110 120
CGRRKIILSD EGKMYGRNEL IARYIKLRTG KTRTRKQVSS HIQVLARRKA REIQAKLKDQ
130 140 150 160 170 180
AAKDKALQSM AAMSSAQIIS ATAFHSSMAL ARGPGRPAVS GFWQGALPGQ AGTSHDVKPF
190 200 210 220 230 240
SQQTYAVQPP LPLPGFESPA GPAPSPSAPP APPWQGRSVA SSKLWMLEFS AFLEQQQDPD
250 260 270 280 290 300
TYNKHLFVHI GQSSPSYSDP YLEAVDIRQI YDKFPEKKGG LKDLFERGPS NAFFLVKFWA
310 320 330 340 350 360
DLNTNIEDEG SSFYGVSSQY ESPENMIITC STKVCSFGKQ VVEKVETEYA RYENGHYSYR
370 380 390 400 410 420
IHRSPLCEYM INFIHKLKHL PEKYMMNSVL ENFTILQVVT NRDTQETLLC IAYVFEVSAS
430
EHGAQHHIYR LVKE