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 Q5H9I0

Entry ID Method Resolution Chain Position Source
AF-Q5H9I0-F1 Predicted AlphaFoldDB

279 variants for Q5H9I0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10520269
rs747668464
2 A>E No ClinGen
ExAC
gnomAD
CA414702001
rs747668464
2 A>G No ClinGen
ExAC
gnomAD
rs187566474
CA10520268
4 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414701935
rs1250096149
6 S>C No ClinGen
gnomAD
CA335942584
rs200002834
6 S>N No ClinGen
TOPMed
gnomAD
CA414701890
rs1483936475
9 E>G No ClinGen
gnomAD
rs753663130
CA10520266
10 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1211301075
CA414701843
11 N>T No ClinGen
gnomAD
rs1188517610
CA414701793
13 E>* No ClinGen
TOPMed
CA414701650
rs1421487730
18 M>T No ClinGen
TOPMed
rs28455963
CA10520262
20 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1603031264
CA414701540
23 T>I No ClinGen
Ensembl
CA414701556
rs1305891879
23 T>P No ClinGen
gnomAD
CA10520261
rs752829662
25 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10520260
rs752829662
25 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1459645116
CA414701473
27 V>M No ClinGen
TOPMed
TCGA novel 27 V>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1155269
rs777030815
CA10520257
29 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs866188727
CA335942583
31 T>I No ClinGen
Ensembl
rs771151026
CA10520256
32 S>P No ClinGen
ExAC
gnomAD
rs772720656
CA10520253
34 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs773790494
CA10520254
34 V>L No ClinGen
ExAC
gnomAD
CA10520255
rs773790494
COSM1145563
34 V>M lung large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774072067
CA10520251
36 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10520252
rs774072067
36 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA335942580
rs1029271555
37 L>F No ClinGen
TOPMed
CA335942579
rs748945772
CA10520249
38 G>R No ClinGen
ExAC
gnomAD
rs779782280
CA10520248
40 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1259689634
CA414701226
40 Q>P No ClinGen
gnomAD
rs1218653884
CA414701207
41 L>H No ClinGen
gnomAD
CA10520245
rs781090348
43 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10520246
rs745673311
43 P>S No ClinGen
ExAC
gnomAD
rs367795076
CA10520244
44 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1340204533
CA414701120
46 F>S No ClinGen
gnomAD
CA414701014
rs1233070888
50 S>R No ClinGen
gnomAD
CA335942578
rs936104850
52 N>S No ClinGen
TOPMed
gnomAD
CA414700917
rs1280680740
55 Q>* No ClinGen
gnomAD
rs926054162
CA335942577
55 Q>L No ClinGen
TOPMed
CA10520242
rs752737964
57 V>A No ClinGen
ExAC
gnomAD
CA335942576
rs979696816
59 I>T No ClinGen
TOPMed
rs371634842
CA10520241
61 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA10520239
rs753965765
63 Q>H No ClinGen
ExAC
gnomAD
CA335942575
rs868551185
66 A>E No ClinGen
Ensembl
rs766626788
CA335942574
67 A>S No ClinGen
ExAC
gnomAD
rs766626788
CA10520238
67 A>T No ClinGen
ExAC
gnomAD
CA414700665
rs1474776490
67 A>V No ClinGen
gnomAD
CA414700647
rs1313668986
69 N>D No ClinGen
gnomAD
rs1569329130
CA414700606
71 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10520235
rs200465931
73 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773893894
CA10520234
76 P>L No ClinGen
ExAC
gnomAD
rs773893894
CA10520233
76 P>R No ClinGen
ExAC
gnomAD
CA335942572
rs368319334
77 N>H No ClinGen
ESP
TOPMed
gnomAD
rs1273428174
CA414700528
77 N>K No ClinGen
gnomAD
CA414700543
rs368319334
77 N>Y No ClinGen
ESP
TOPMed
gnomAD
CA10520232
rs201974352
79 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748864765
CA10520231
80 S>T No ClinGen
ExAC
gnomAD
rs867026564
CA335942571
83 F>S No ClinGen
TOPMed
gnomAD
CA414700424
rs1402302586
84 A>V No ClinGen
TOPMed
rs906109582
CA335942570
85 S>F No ClinGen
TOPMed
gnomAD
rs774940932
CA10520230
86 Q>* No ClinGen
ExAC
gnomAD
CA414700377
rs1371770692
88 Q>* No ClinGen
gnomAD
TCGA novel 91 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1664539
CA414700310
rs1402694634
92 S>F kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs745533547
CA10520222
94 P>L No ClinGen
1000Genomes
ExAC
rs769633313
CA10520223
94 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs780665772
CA10520221
95 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA335942569
rs950249154
95 P>S No ClinGen
gnomAD
rs753967248
CA10520220
96 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1252224454
CA414700162
CA414700160
100 H>Q No ClinGen
TOPMed
gnomAD
TCGA novel 102 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10520218
rs756471402
104 G>E No ClinGen
ExAC
gnomAD
CA10520217
rs200184256
105 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414700043
rs1164977468
106 K>E No ClinGen
gnomAD
CA10520216
rs768047382
106 K>N No ClinGen
ExAC
gnomAD
CA414699995
rs1253380221
108 G>S No ClinGen
gnomAD
CA10520215
rs374029681
109 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762980759
CA335942567
110 G>S No ClinGen
Ensembl
CA414699912
rs1302825657
113 R>G No ClinGen
TOPMed
gnomAD
CA10520213
rs764669689
113 R>H No ClinGen
ExAC
gnomAD
CA335942565
rs764669689
113 R>L No ClinGen
ExAC
gnomAD
TCGA novel 113 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762353487
CA10520212
114 L>F No ClinGen
ExAC
gnomAD
rs1329723930
CA414699890
114 L>P No ClinGen
gnomAD
CA10520211
rs751008224
115 S>A No ClinGen
1000Genomes
ExAC
gnomAD
rs759231182
CA10520209
119 W>R No ClinGen
ExAC
gnomAD
CA414699733
COSM3973261
rs1239930035
121 T>M kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA414699720
rs1338479703
122 V>E No ClinGen
gnomAD
rs777511666
CA10520205
127 T>A No ClinGen
ExAC
gnomAD
rs772108089
CA10520204
130 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA414699571
rs1365194831
130 C>F No ClinGen
gnomAD
CA414699565
rs772108089
130 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA335942564
rs984408004
131 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 133 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10520203
rs749325749
133 V>L No ClinGen
ExAC
gnomAD
CA10520200
rs373866552
136 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757631601
CA10520198
139 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs751969445
CA10520197
140 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA414699369
rs1238536581
141 F>L No ClinGen
gnomAD
CA10520196
rs199687528
143 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414699317
rs1445029485
145 S>N No ClinGen
TOPMed
CA414699284
rs1353453238
147 H>R No ClinGen
TOPMed
CA10520195
rs61732904
147 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10520193
rs765029523
COSM1569691
148 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA10520192
rs759077593
148 A>V No ClinGen
ExAC
gnomAD
CA414699257
rs1342946300
149 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs770582451
CA10520190
150 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA414699247
rs1158617618
150 P>L No ClinGen
gnomAD
rs770582451
CA10520191
150 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs759259683
CA10520188
151 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1361706276
CA414699227
152 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754122896
CA10520187
156 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs369636843
CA10520186
157 V>M No ClinGen
ESP
ExAC
TOPMed
rs372952881
CA10520184
160 I>M No ClinGen
ESP
ExAC
gnomAD
rs376036313
CA10520185
160 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1569328988
CA414699118
161 K>E No ClinGen
Ensembl
CA10520182
COSM1598841
rs745953075
163 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10520181
rs781509777
163 R>H No ClinGen
ExAC
rs1446542251
CA414699076
164 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 167 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465081689
CA414699031
167 A>V No ClinGen
TOPMed
rs545226775
CA335942563
168 L>F No ClinGen
Ensembl
CA10520177
rs758709168
171 L>V No ClinGen
ExAC
gnomAD
CA10520176
rs147545090
172 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 173 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1292623438
CA414698931
174 M>I No ClinGen
gnomAD
CA10520175
rs149400555
174 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372789532
CA10520174
175 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768142194
CA335942562
177 I>V No ClinGen
TOPMed
TCGA novel 179 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 182 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414698814
rs1318485406
183 K>E No ClinGen
gnomAD
rs766017508
CA10520171
185 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs753402635
CA10520172
COSM1556607
185 K>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369687070
CA10520169
190 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414698710
rs1251917111
191 T>A No ClinGen
TOPMed
CA414698684
rs767295052
192 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1476694726
CA414698679
192 N>K No ClinGen
gnomAD
CA335942561
rs767295052
192 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10520168
rs767295052
192 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA414698668
rs1243191435
193 S>L No ClinGen
gnomAD
rs761547932
CA10520167
194 A>V No ClinGen
ExAC
gnomAD
CA10520165
rs35745873
CA10520166
195 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1257404233
CA414698634
195 Q>L No ClinGen
TOPMed
CA10520164
rs745932397
200 L>F No ClinGen
ExAC
gnomAD
rs776887298
CA414698561
201 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs184162475
CA414698560
201 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10520162
rs184162475
201 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776887298
COSM1625528
CA10520163
201 R>W liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs747201504
CA10520161
202 V>G No ClinGen
ExAC
gnomAD
CA414698515
rs1193470914
204 R>K No ClinGen
TOPMed
rs572354829
CA10520160
205 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748525964
CA10520158
208 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA10520159
rs748525964
208 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs779376906
CA10520157
210 R>K No ClinGen
ExAC
gnomAD
rs372437742
CA10520156
210 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA414698335
rs1362352762
215 Q>H No ClinGen
gnomAD
rs1267701291
CA414698331
216 S>P No ClinGen
gnomAD
rs1327524181
CA414698307
217 E>D No ClinGen
gnomAD
CA414698239
rs1393232272
222 I>F No ClinGen
gnomAD
CA414698230
rs1389056389
222 I>M No ClinGen
TOPMed
rs1295616767
CA414698235
222 I>T No ClinGen
TOPMed
rs368393446
CA10520154
223 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs374639205
CA10520153
224 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 225 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291280395
CA414698161
227 A>V No ClinGen
gnomAD
rs767085124
CA10520151
229 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA10520150
rs761613082
230 N>K No ClinGen
ExAC
gnomAD
rs1468258210
CA414698106
232 V>E No ClinGen
gnomAD
rs926526206
CA335942560
232 V>M No ClinGen
TOPMed
gnomAD
CA414698062
rs1308973572
236 Q>* No ClinGen
gnomAD
rs774348613
CA10520149
237 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 240 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763031638
CA10520147
240 E>D No ClinGen
ExAC
gnomAD
rs367669821
CA10520148
240 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414698013
rs1213873379
240 E>K No ClinGen
gnomAD
rs367669821
CA414698007
240 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440993574
CA414697953
245 R>Q No ClinGen
TOPMed
gnomAD
CA10520146
rs746359549
246 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA335942559
rs746359549
246 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA10520145
rs770998600
249 N>S No ClinGen
ExAC
gnomAD
CA10520143
rs373819303
251 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10520144
rs373819303
251 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10520142
rs192032791
253 H>P No ClinGen
1000Genomes
ExAC
gnomAD
CA414697855
rs192032791
253 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA335942558
COSM1598842
rs865906208
254 V>M Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs950321068
CA335942557
255 P>A No ClinGen
TOPMed
TCGA novel 256 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10520140
rs779291058
257 I>V No ClinGen
ExAC
gnomAD
rs755458616
CA10520139
258 I>N No ClinGen
ExAC
gnomAD
CA10520138
rs749746922
259 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA414697782
rs1453814338
259 I>V No ClinGen
gnomAD
TCGA novel 260 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780457581
CA10520137
261 S>N No ClinGen
ExAC
gnomAD
rs755588251
CA10520136
263 K>R No ClinGen
ExAC
gnomAD
CA335942556
rs962419435
265 T>N No ClinGen
TOPMed
CA10520134
rs767188782
266 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414697669
rs1282360197
267 I>T No ClinGen
gnomAD
CA10520133
rs756929660
267 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA414697659
rs1457767230
268 N>T No ClinGen
TOPMed
rs1362730752
CA414697604
272 S>F No ClinGen
TOPMed
CA414697601
rs1363372407
273 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10520128
rs370913906
274 D>N No ClinGen
ESP
ExAC
gnomAD
CA10520129
rs370913906
274 D>Y No ClinGen
ESP
ExAC
gnomAD
CA414697555
rs1297604942
276 S>* No ClinGen
TOPMed
CA414697530
rs1373571114
278 Y>F No ClinGen
gnomAD
TCGA novel 279 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 280 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1048754786
CA335942554
281 K>R No ClinGen
Ensembl
CA414697481
rs1229894276
282 F>L No ClinGen
TOPMed
rs760796084
CA10520127
287 E>K No ClinGen
ExAC
gnomAD
rs773230302
CA10520126
289 H>D No ClinGen
ExAC
gnomAD
CA335942553
rs998351947
290 D>G No ClinGen
TOPMed
gnomAD
rs762072463
CA335942552
291 D>N No ClinGen
ExAC
gnomAD
CA10520124
rs762072463
291 D>Y No ClinGen
ExAC
gnomAD
rs1357454317
CA414697291
294 V>M No ClinGen
gnomAD
CA414697054
rs1287680881
301 T>S No ClinGen
TOPMed
CA414696984
rs1487081777
304 L>P No ClinGen
TOPMed
CA10520121
rs376822661
306 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs930328053
CA335942550
306 S>P No ClinGen
Ensembl
rs1469511193
CA414696932
307 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs770264201
CA10520119
308 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA10520118
rs780612876
309 C>W No ClinGen
ExAC
gnomAD
CA414696885
rs1184093450
309 C>Y No ClinGen
TOPMed
CA414696831
rs1211455832
311 A>V No ClinGen
gnomAD
TCGA novel 312 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751213260
CA10520115
314 L>F No ClinGen
ExAC
gnomAD
CA414696768
rs1217306538
314 L>R No ClinGen
gnomAD
CA414696718
rs1382576771
316 M>L No ClinGen
TOPMed
CA414696716
rs1200788317
316 M>T No ClinGen
gnomAD
rs777568015
CA10520114
318 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA414696579
rs1305779426
322 P>L No ClinGen
gnomAD
rs1158277908
CA414696592
322 P>S No ClinGen
TOPMed
CA10520113
rs758208285
323 K>Q No ClinGen
ExAC
gnomAD
COSM1598844
rs752491742
CA10520112
327 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10520109
rs750495166
329 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1268478871
CA414696465
331 E>K No ClinGen
gnomAD
CA414696434
rs1489317436
332 M>I No ClinGen
gnomAD
CA414696440
rs1217577028
332 M>L No ClinGen
gnomAD
rs767448986
CA10520108
334 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 335 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10520107
rs761912849
339 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1344842659
CA414696339
339 G>S No ClinGen
gnomAD
CA335942549
rs761912849
339 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA414696328
rs1419697552
341 F>L No ClinGen
TOPMed
gnomAD
rs768883137
CA10520105
350 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA414696260
rs1206385987
351 T>M No ClinGen
gnomAD
CA414696265
rs1259819041
351 T>P No ClinGen
gnomAD
rs775789413
CA10520103
352 W>* No ClinGen
ExAC
gnomAD
rs1320497384
CA414696234
355 A>V No ClinGen
gnomAD
rs141896027
CA10520102
356 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414696221
rs1240341171
357 D>V No ClinGen
TOPMed
rs749286965
CA10520100
361 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs199819175
CA10520099
362 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414696189
rs1443444150
362 A>V No ClinGen
gnomAD
rs746528072
CA10520098
363 I>T No ClinGen
ExAC
gnomAD
CA414696187
rs1165455706
363 I>V No ClinGen
gnomAD
rs188914178
CA335942548
364 G>E No ClinGen
1000Genomes
CA335942547
rs1033100044
365 M>V No ClinGen
Ensembl
rs777553396
CA10520097
367 A>D No ClinGen
ExAC
gnomAD
rs1603030456
CA414696155
368 T>R No ClinGen
Ensembl
CA414696140
rs1246938572
370 S>F No ClinGen
gnomAD
rs372309436
CA10520094
371 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754825609
CA10520092
373 S>C No ClinGen
ExAC
gnomAD
TCGA novel 374 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369481531
CA335942545
375 Y>* No ClinGen
ESP
TOPMed
rs1333293488
CA414696114
375 Y>H No ClinGen
TOPMed
CA335942544
COSM1155266
rs1044980404
377 G>D Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA10520090
rs766310359
381 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1228729650
CA414696063
COSM1145560
383 P>T lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA414696049
rs1307404243
385 V>I No ClinGen
gnomAD
rs867144304
CA335942543
386 E>K No ClinGen
gnomAD
rs1277221204
CA414696016
389 E>V No ClinGen
TOPMed
rs1325395592
CA414695997
392 D>N No ClinGen
gnomAD
CA10520086
COSM1598846
rs375672208
395 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
rs183061934
CA414695959
CA414695960
396 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1456702986
CA414695965
396 D>N No ClinGen
TOPMed
TCGA novel 397 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775801098
CA10520083
399 S>R No ClinGen
ExAC
gnomAD
CA10520082
rs765474569
403 E>K No ClinGen
ExAC
gnomAD

No associated diseases with Q5H9I0

2 regional properties for Q5H9I0

Type Name Position InterPro Accession
domain E2F/DP family, winged-helix DNA-binding domain 106 - 188 IPR003316
domain Transcription factor DP, C-terminal 193 - 340 IPR014889

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Translocates to the nucleus on heterodimerization with E2F family members
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 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.
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.
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 Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor binding Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription regulator inhibitor activity A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification.

5 GO annotations of biological process

Name Definition
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.
G1/S transition of mitotic cell cycle The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of G1/S transition of mitotic cell cycle Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAKYVSLTEA NEELKVLMDE NQTSRPVAVH TSTVNPLGKQ LLPKTFGQSS VNIDQQVVIG
70 80 90 100 110 120
MPQRPAASNI PVVGSPNPPS THFASQNQHS YSSPPWAGQH NRKGEKNGMG LCRLSMKVWE
130 140 150 160 170 180
TVQRKGTTSC QEVVGELVAK FRAASNHASP NESAYDVKNI KRRTYDALNV LMAMNIISRE
190 200 210 220 230 240
KKKIKWIGLT TNSAQNCQNL RVERQKRLER IKQKQSELQQ LILQQIAFKN LVLRNQYVEE
250 260 270 280 290 300
QVSQRPLPNS VIHVPFIIIS SSKKTVINCS ISDDKSEYLF KFNSSFEIHD DTEVLMWMGM
310 320 330 340 350 360
TFGLESGSCS AEDLKMARNL VPKALEPYVT EMAQGTFGGV FTTAGSRSNG TWLSASDLTN
370 380 390 400
IAIGMLATSS GGSQYSGSRV ETPAVEEEEE EDNNDDDLSE NDEDD