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 A6NGE4

Entry ID Method Resolution Chain Position Source
AF-A6NGE4-F1 Predicted AlphaFoldDB

362 variants for A6NGE4

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401645275
CA412631774
2 S>Y No ClinGen
TOPMed
CA10375328
rs754784040
3 H>Y No ClinGen
ExAC
gnomAD
rs1322023738
CA412631744
6 G>A No ClinGen
gnomAD
CA412631741
rs1158479293
7 S>G No ClinGen
TOPMed
CA412631731
rs1569233158
8 T>K No ClinGen
Ensembl
CA10375326
rs145556673
9 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10375325
rs145556673
9 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA328094680
rs200028096
10 G>S No ClinGen
ESP
TOPMed
gnomAD
CA412631693
rs1339019610
14 L>F No ClinGen
gnomAD
rs764776423
CA10375323
14 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA10375322
rs761423990
15 V>G No ClinGen
ExAC
gnomAD
rs866774220
CA328094679
16 T>I No ClinGen
Ensembl
rs776215046
CA328094678
20 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs776215046
CA10375321
20 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA10375320
rs769053531
25 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10375319
rs760962915
26 Q>K No ClinGen
ExAC
gnomAD
rs199777052
CA10375318
27 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772740831
CA10375317
29 V>A No ClinGen
ExAC
TOPMed
gnomAD
COSM1740815
rs754610980
CA10375315
31 A>V haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
rs771199172
CA10375312
32 V>A No ClinGen
ExAC
gnomAD
rs749505405
CA10375311
33 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10375308
rs149699902
33 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10375309
rs149699902
33 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10375310
rs149699902
33 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201140749
CA10375307
34 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412631560
rs1467714727
36 S>F No ClinGen
gnomAD
rs142088230
CA10375304
39 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1262144650
CA412631544
39 I>V No ClinGen
gnomAD
rs200447635
CA10375303
40 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10375302
rs201120549
41 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1370218521
CA412631521
COSM4005068
42 A>E urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs763661538
CA10375301
42 A>T No ClinGen
ExAC
gnomAD
rs774529531
CA10375299
43 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs202120447
CA10375298
44 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA412631508
rs1333520790
45 E>K No ClinGen
gnomAD
TCGA novel 47 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs903620852
CA328094677
47 S>W No ClinGen
TOPMed
CA412631480
rs1433664579
49 G>A No ClinGen
gnomAD
CA328094676
rs199936225
49 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
rs749330123
CA10375294
51 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA412631468
rs749330123
51 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412631471
rs1427037700
51 G>S No ClinGen
TOPMed
gnomAD
CA10375293
rs770418324
52 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10375292
rs769929879
53 D>E No ClinGen
ExAC
CA412631457
rs1238404046
53 D>G No ClinGen
gnomAD
CA10375291
rs748450249
55 R>G No ClinGen
ExAC
gnomAD
CA10375290
rs61735183
55 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 58 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375287
COSM3844421
rs778836758
61 N>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1314393087
CA412631390
63 A>V No ClinGen
TOPMed
gnomAD
rs756691632
CA10375286
65 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10375285
rs753323292
67 N>S No ClinGen
ExAC
gnomAD
rs763757804
CA10375284
73 E>G No ClinGen
ExAC
gnomAD
rs755704552
CA10375283
74 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA412631281
rs1196316727
79 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1196316727
CA412631280
79 V>L No ClinGen
TOPMed
COSM184529
CA10375281
rs767977769
80 E>K Variant assessed as Somatic; 0.0 impact. large_intestine endometrium skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150703703
CA10375280
81 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 83 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412631248
rs1387004599
83 S>R No ClinGen
gnomAD
rs774930853
CA10375279
84 M>I No ClinGen
ExAC
gnomAD
CA10375278
rs374009296
89 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412631202
rs763039543
90 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA10375277
rs763039543
90 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1420269051
CA412631187
92 P>L No ClinGen
TOPMed
CA412631175
rs1465211267
94 V>A No ClinGen
TOPMed
TCGA novel 97 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375274
rs748314306
98 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs143412143
CA328094673
COSM109974
106 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA10375267
rs148567837
107 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778785427
CA10375268
107 M>K No ClinGen
ExAC
rs778785427
CA10375269
107 M>R No ClinGen
ExAC
CA412631068
rs1238280530
109 E>G No ClinGen
gnomAD
CA10375266
rs749300787
109 E>K No ClinGen
ExAC
gnomAD
CA412631057
rs1313539603
110 E>D No ClinGen
gnomAD
CA328094672
rs867105386
111 G>E No ClinGen
Ensembl
rs1477465033
CA412631055
111 G>R No ClinGen
TOPMed
gnomAD
CA10375262
rs755704268
117 P>R No ClinGen
ExAC
gnomAD
rs1433981521
CA412631008
117 P>S No ClinGen
gnomAD
rs755353352
CA10375259
118 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1602935033
CA412630996
119 M>I No ClinGen
Ensembl
CA10375257
rs766898288
119 M>T No ClinGen
ExAC
gnomAD
rs1447453675
CA412630992
120 C>R No ClinGen
gnomAD
CA10375256
rs763337544
122 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA412630970
rs1204217365
123 C>F No ClinGen
gnomAD
rs201777389
CA10375253
124 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776769197
CA10375252
125 G>D No ClinGen
ExAC
gnomAD
rs200483414
CA10375251
126 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA10375250
rs202016467
126 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA10375249
rs774114403
127 N>S No ClinGen
ExAC
gnomAD
CA10375248
rs765227684
128 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA412630944
rs1280803117
128 H>Y No ClinGen
gnomAD
CA10375245
rs146077046
129 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374507128
CA10375246
129 D>H No ClinGen
ESP
ExAC
TOPMed
CA10375243
rs371111312
130 Q>L No ClinGen
ESP
ExAC
gnomAD
CA10375244
rs371111312
130 Q>P No ClinGen
ESP
ExAC
gnomAD
rs751297172
CA10375241
131 C>Y No ClinGen
ExAC
gnomAD
rs780277664
CA10375240
132 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs750838544
CA10375239
134 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1163512525
CA412630899
135 E>K No ClinGen
gnomAD
CA10375237
rs142810555
136 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1426405344
CA412630885
137 Q>E No ClinGen
TOPMed
gnomAD
rs761760730
CA10375236
137 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA10375233
rs375220315
140 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs759874078
CA328094670
141 E>* No ClinGen
TOPMed
CA10375232
rs61735182
143 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1355549463
CA412630831
144 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs770570637
CA10375231
145 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA10375230
rs762808589
146 E>G No ClinGen
ExAC
TOPMed
rs140377946
CA10375228
147 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746654902
CA10375224
151 P>T No ClinGen
ExAC
gnomAD
rs779760110
CA412630791
COSM1249754
152 R>* oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA10375223
rs779760110
152 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs137944442
CA10375222
152 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750819645
CA10375221
153 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA10375220
COSM1119708
rs201727969
154 R>C Variant assessed as Somatic; 6.324e-05 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375219
rs757727199
154 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754388247
CA10375218
155 W>R No ClinGen
ExAC
gnomAD
CA10375217
rs764141269
156 Q>E No ClinGen
ExAC
gnomAD
CA10375215
rs142121147
158 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200841569
CA10375214
159 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412630751
rs1602934820
159 T>S No ClinGen
Ensembl
rs777162966
COSM1636493
CA10375213
162 R>C Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375212
rs147601047
162 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145123475
CA10375210
164 R>Q No ClinGen
ESP
ExAC
gnomAD
CA10375211
rs771155325
164 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776776307
CA10375209
169 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA10375208
rs768214773
170 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs370259094
CA10375207
171 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1368406319
CA412630682
171 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1239331730
CA412630678
172 F>I No ClinGen
TOPMed
rs377113145
CA10375204
174 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412630664
rs1310358832
174 Y>H No ClinGen
TOPMed
CA328094669
rs923925597
180 R>T No ClinGen
TOPMed
gnomAD
rs757672175
CA10375202
181 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA412630603
rs1174734878
183 V>L No ClinGen
gnomAD
TCGA novel 184 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375200
rs778270304
COSM1119707
185 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200108741
CA10375199
187 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752855706
CA10375198
187 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767536618
CA10375197
189 Q>H No ClinGen
ExAC
gnomAD
CA412630565
rs1279227995
189 Q>P No ClinGen
gnomAD
TCGA novel 191 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375196
rs777227762
196 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10375194
rs765119036
197 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10375193
rs761704041
198 S>C No ClinGen
ExAC
gnomAD
CA412630481
rs1277332532
202 I>V No ClinGen
gnomAD
rs148833488
CA10375191
207 R>C No ClinGen
ESP
ExAC
gnomAD
rs148833488
CA10375192
207 R>G No ClinGen
ESP
ExAC
gnomAD
CA10375190
rs760221266
207 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760221266
CA412630441
207 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs148833488
CA412630443
207 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs775032071
CA10375189
208 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA10375188
rs61735181
210 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1119706
rs1406061651
CA412630428
210 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1473154987
CA412630412
213 S>G No ClinGen
TOPMed
gnomAD
CA10375186
rs773938102
213 S>N No ClinGen
ExAC
gnomAD
rs771232314
CA10375185
214 S>I No ClinGen
ExAC
gnomAD
CA10375182
rs189119937
215 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA10375183
rs149659642
215 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1318413945
CA412630389
216 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 216 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 218 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781320020
CA10375180
219 R>K No ClinGen
ExAC
gnomAD
CA412630368
rs1306267671
219 R>S No ClinGen
TOPMed
CA412630364
rs1356472383
220 V>M No ClinGen
gnomAD
rs1294539110
CA412630354
221 I>M No ClinGen
gnomAD
rs1313361123
CA412630340
223 W>C No ClinGen
TOPMed
rs1233179975
CA412630334
224 D>G No ClinGen
TOPMed
rs139420081
CA10375178
227 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10375179
rs755079445
227 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412630311
rs1433314495
228 Q>K No ClinGen
gnomAD
CA328094668
rs150894544
229 K>R No ClinGen
ESP
TOPMed
rs1602934535
CA412630288
231 V>A No ClinGen
Ensembl
rs757067588
CA328094667
231 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757067588
CA10375176
231 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA412630285
rs1602934528
232 L>V No ClinGen
Ensembl
TCGA novel 235 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 237 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375173
rs760635762
238 H>Q No ClinGen
ExAC
gnomAD
rs1195330470
COSM227959
CA412630236
239 D>N NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1417061719
CA412630213
242 V>I No ClinGen
gnomAD
CA10375172
rs752630593
243 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA412630170
rs1214658265
248 F>L No ClinGen
gnomAD
TCGA novel 248 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173901581
CA412630161
249 P>S No ClinGen
TOPMed
CA412630123
rs1274514972
254 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10375168
rs143799037
257 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10375167
rs762636057
259 C>R No ClinGen
ExAC
gnomAD
CA10375165
rs770204101
272 N>K No ClinGen
ExAC
gnomAD
rs748685130
CA10375164
275 Y>H No ClinGen
ExAC
gnomAD
CA10375163
rs781555980
276 C>F No ClinGen
ExAC
gnomAD
rs780381603
CA10375160
277 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs140126853
CA10375161
277 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758661238
CA10375159
281 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146103278
CA10375158
COSM3939930
281 R>H Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146103278
CA412629946
281 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10375157
rs142837894
284 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185651686
CA412629907
287 G>E No ClinGen
gnomAD
CA412629904
rs1478192197
288 P>S No ClinGen
gnomAD
rs369821812
CA10375155
291 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1207272594
CA412629819
300 Y>* No ClinGen
gnomAD
TCGA novel 302 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 303 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10375152
rs751042138
304 T>I No ClinGen
ExAC
gnomAD
TCGA novel 306 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 309 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1042366741
CA328094665
309 A>T No ClinGen
TOPMed
gnomAD
CA10375150
rs762582589
COSM1558027
310 V>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375151
rs762582589
310 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs762582589
CA412629758
310 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 313 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772916584
CA10375149
314 I>V No ClinGen
ExAC
gnomAD
CA10375144
rs747589488
320 R>Q No ClinGen
ExAC
gnomAD
CA10375146
rs755798442
320 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs775686012
CA10375143
321 P>L No ClinGen
ExAC
gnomAD
CA10375142
rs772333500
322 A>P No ClinGen
ExAC
gnomAD
CA10375141
rs746079607
324 K>R No ClinGen
ExAC
CA412629632
rs1238267828
330 E>K No ClinGen
gnomAD
CA10375138
rs747928959
332 D>E No ClinGen
ExAC
CA10375139
rs755893299
332 D>N No ClinGen
ExAC
TOPMed
rs755893299
CA412629615
332 D>Y No ClinGen
ExAC
TOPMed
TCGA novel 333 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 335 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754851379
COSM1467368
CA10375136
336 G>R Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10375134
rs763210557
341 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs192362248
CA10375133
342 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1354597657
CA412629523
346 N>D No ClinGen
TOPMed
gnomAD
rs762197074
CA10375130
349 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA412629483
rs1602934226
351 A>E No ClinGen
Ensembl
rs1309332127
CA412629456
355 H>Q No ClinGen
gnomAD
rs1602934215
CA412629430
359 V>I No ClinGen
Ensembl
CA412629368
rs1371158112
367 I>T No ClinGen
TOPMed
gnomAD
TCGA novel
CA10375128
rs764567419
369 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA328094661
rs760146014
370 K>E No ClinGen
1000Genomes
TCGA novel 372 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776203404
CA10375126
374 G>A No ClinGen
ExAC
gnomAD
CA412629313
rs1433723422
375 V>I No ClinGen
gnomAD
CA412629306
rs1160717407
376 L>F No ClinGen
gnomAD
CA412629307
rs1160717407
376 L>V No ClinGen
gnomAD
rs771032379
CA10375122
382 H>R No ClinGen
ExAC
TOPMed
rs1215819339
CA412629257
383 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs189411535
CA10375121
386 Y>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1255851387
CA412629202
391 T>A No ClinGen
gnomAD
rs1210613816
CA412629198
391 T>I No ClinGen
gnomAD
CA412629165
COSM1467366
rs1228225117
396 V>A large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs754870602
CA10375119
COSM74329
396 V>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375118
rs746882738
397 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA10375117
rs779981615
398 Y>S No ClinGen
ExAC
gnomAD
CA412629146
rs1347319938
399 S>N No ClinGen
TOPMed
CA412629135
rs1310904525
401 D>H No ClinGen
TOPMed
gnomAD
CA412629134
rs1310904525
401 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs756835736
CA10375113
405 L>H No ClinGen
ExAC
gnomAD
CA10375112
rs753582398
408 S>N No ClinGen
ExAC
gnomAD
CA10375111
rs764359472
409 Y>C No ClinGen
ExAC
gnomAD
rs776078422
CA10375109
412 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10375108
rs768173990
413 D>G No ClinGen
ExAC
gnomAD
rs371742961
CA10375107
418 N>S No ClinGen
ESP
ExAC
gnomAD
rs200947185
CA328094658
419 S>A No ClinGen
TOPMed
gnomAD
rs200947185
CA328094657
419 S>P No ClinGen
TOPMed
gnomAD
rs1447910474
CA412628998
421 L>H No ClinGen
gnomAD
rs1447910474
CA412628997
421 L>P No ClinGen
gnomAD
rs1264254164
CA412628990
422 S>I No ClinGen
gnomAD
rs1203638319
CA412628983
423 D>G No ClinGen
TOPMed
gnomAD
CA10375105
rs771104433
424 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10375102
rs768382125
431 Y>F No ClinGen
ExAC
gnomAD
CA10375101
rs746829557
435 R>I No ClinGen
ExAC
gnomAD
CA412628845
rs1297381003
442 C>* No ClinGen
gnomAD
CA10375100
rs779926344
443 V>I No ClinGen
ExAC
gnomAD
CA10375099
rs773615533
445 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375098
rs745864503
446 Y>C No ClinGen
ExAC
gnomAD
CA10375093
rs138650117
449 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777491492
CA10375094
449 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA412628778
rs1191403049
452 F>L No ClinGen
gnomAD
CA10375090
rs760109139
COSM1119698
454 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs766304714
CA10375088
455 S>G No ClinGen
ExAC
gnomAD
CA412628759
rs1209179925
456 G>S No ClinGen
gnomAD
CA10375086
rs773259232
460 G>R No ClinGen
ExAC
gnomAD
rs747769144
CA10375085
462 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762062087
CA10375084
465 W>L No ClinGen
ExAC
gnomAD
TCGA novel 472 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412628636
rs1602933871
473 I>F No ClinGen
Ensembl
CA10375083
COSM1119696
rs775242035
474 Q>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1569232566
TCGA novel
CA412628601
477 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
rs1358660017
CA412628586
479 D>E No ClinGen
TOPMed
CA412628593
rs1334854011
479 D>N No ClinGen
TOPMed
rs1471660061
CA412628585
480 R>G No ClinGen
TOPMed
gnomAD
CA412628576
rs1300140119
481 G>* No ClinGen
TOPMed
rs1368177318
CA412628568
482 D>G No ClinGen
gnomAD
CA412628561
rs1411023358
483 I>T No ClinGen
TOPMed
gnomAD
rs771911063
CA10375082
483 I>V No ClinGen
ExAC
gnomAD
rs745785986
CA10375081
487 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 495 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 497 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA328094654
rs745341683
499 S>T No ClinGen
Ensembl
CA412628395
rs1452744688
508 W>R No ClinGen
gnomAD
TCGA novel 512 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770284640
CA10375079
513 K>E No ClinGen
ExAC
gnomAD
CA10375078
rs777469548
514 T>A No ClinGen
ExAC
gnomAD
CA10375077
rs777469548
514 T>P No ClinGen
ExAC
gnomAD
CA412628348
rs1252554186
515 A>V No ClinGen
gnomAD
CA328094653
rs879063476
517 E>K No ClinGen
Ensembl
CA10375076
rs755809602
519 T>I No ClinGen
ExAC
gnomAD
rs1280717513
CA412628296
523 D>E No ClinGen
gnomAD
CA10375075
rs752458196
524 V>A No ClinGen
ExAC
TOPMed
CA10375074
rs781689773
525 I>M No ClinGen
ExAC
gnomAD
rs55924991
CA328094651
529 K>R No ClinGen
Ensembl
rs1569232519
CA412628227
533 D>G No ClinGen
Ensembl
CA10375071
rs766931484
534 E>G No ClinGen
ExAC
gnomAD
CA10375070
rs138100395
540 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412628167
rs1178470373
541 D>V No ClinGen
TOPMed
TCGA novel 542 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368290304
CA10375069
542 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375068
rs765350190
544 D>G No ClinGen
ExAC
gnomAD
rs762007041
CA10375067
545 N>D No ClinGen
ExAC
gnomAD
rs199848612
CA10375065
546 R>C Variant assessed as Somatic; 6.252e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375064
rs759385649
546 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375066
rs199848612
546 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10375063
rs774103564
549 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA328094650
rs12388557
VAR_038060
549 R>W No ClinGen
UniProt
1000Genomes
TOPMed
dbSNP
rs770928929
COSM756409
CA412628099
552 V>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375062
rs770928929
552 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1119693
rs749236143
CA10375061
553 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772839233
CA10375060
553 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1274233751
CA412628065
557 Q>H No ClinGen
TOPMed
rs1482655317
CA412628067
557 Q>R No ClinGen
TOPMed
gnomAD
CA10375059
rs779921759
558 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747739698
CA10375058
559 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA10375057
rs781006830
559 A>V No ClinGen
ExAC
gnomAD
rs372380763
CA10375056
561 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA10375055
rs747432511
562 P>T No ClinGen
ExAC
CA412628032
rs758992618
563 G>C No ClinGen
gnomAD
CA328094647
rs758992618
563 G>R No ClinGen
gnomAD
CA412628033
rs758992618
563 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1277200484
COSM612161
CA412628012
566 D>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs894073645
CA328094646
567 H>D No ClinGen
TOPMed
gnomAD
CA412627988
rs1200177975
569 A>D No ClinGen
TOPMed
CA412627986
rs1200177975
569 A>V No ClinGen
TOPMed
TCGA novel 570 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412627928
rs1413297255
577 L>S No ClinGen
gnomAD
CA412627920
rs1602933578
578 D>G No ClinGen
Ensembl
rs1375113657
CA412627923
578 D>H No ClinGen
TOPMed
gnomAD
rs1375113657
CA412627924
578 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1319267813
CA412627916
579 E>K No ClinGen
gnomAD
rs765295087
CA10375051
580 S>F No ClinGen
ExAC
gnomAD
rs750984121
CA10375052
580 S>T No ClinGen
ExAC
gnomAD
rs757330204
CA10375050
586 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA412627865
rs1472264811
586 T>I No ClinGen
gnomAD
CA10375048
rs764318936
588 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA412627856
rs1465260468
588 E>G No ClinGen
TOPMed
COSM457314
rs764318936
CA412627857
588 E>K kidney Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10375047
rs759208081
589 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA10375045
rs750231027
590 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10375044
rs192364674
591 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA328094645
rs192364674
591 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412627833
rs1602933518
592 Q>K No ClinGen
Ensembl
rs201455864
COSM1467360
CA328094644
594 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA412627816
rs1281606992
594 R>Q No ClinGen
gnomAD
CA412627811
rs1270577970
595 V>L No ClinGen
gnomAD
CA412627794
rs1336171134
597 C>Y No ClinGen
gnomAD
CA10375043
rs773291515
598 I>M No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with A6NGE4

7 regional properties for A6NGE4

Type Name Position InterPro Accession
repeat WD40 repeat 185 - 224 IPR001680-1
repeat WD40 repeat 227 - 269 IPR001680-2
repeat WD40 repeat 278 - 315 IPR001680-3
repeat WD40 repeat 322 - 363 IPR001680-4
repeat WD40 repeat 372 - 418 IPR001680-5
repeat WD40 repeat 424 - 466 IPR001680-6
repeat WD40 repeat 469 - 509 IPR001680-7

Functions

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

2 GO annotations of cellular component

Name Definition
Cul4-RING E3 ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P0C7V8 DCAF8L2 DDB1- and CUL4-associated factor 8-like protein 2 Homo sapiens (Human) PR
Q58WW2 DCAF6 DDB1- and CUL4-associated factor 6 Homo sapiens (Human) PR
Q5TAQ9 DCAF8 DDB1- and CUL4-associated factor 8 Homo sapiens (Human) PR
Q9DC22 Dcaf6 DDB1- and CUL4-associated factor 6 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSHQEGSTGG LPDLVTESLF SSPEEQSGVA AVTAASSDIE MAATEPSTGD GGDTRDGGFL
70 80 90 100 110 120
NDASTENQNT DSESSSEDVE LESMGEGLFG YPLVGEETER EEEEEEMEEE GEEEEQPRMC
130 140 150 160 170 180
PRCGGTNHDQ CLLDEDQALE EWISSETSAL PRSRWQVLTA LRQRQLGSSA RFVYEACGAR
190 200 210 220 230 240
TFVQRFRLQY LLGSHAGSVS TIHFNQRGTR LASSGDDLRV IVWDWVRQKP VLNFESGHDI
250 260 270 280 290 300
NVIQAKFFPN CGDSTLAMCG HDGQVRVAEL INASYCENTK RVAKHRGPAH ELALEPDSPY
310 320 330 340 350 360
KFLTSGEDAV VFTIDLRQDR PASKVVVTRE NDKKVGLYTI SMNPANIYQF AVGGHDQFVR
370 380 390 400 410 420
IYDQRRIDKK ENNGVLKKFT PHHLVYCDFP TNITCVVYSH DGTELLASYN DEDIYLFNSS
430 440 450 460 470 480
LSDGAQYVKR YKGHRNNDTI KCVNFYGPRS EFVVSGSDCG HVFFWEKSSS QIIQFMEGDR
490 500 510 520 530 540
GDIVNCLEPH PYLPVLATSG LDQHVRIWTP TAKTATELTG LKDVIKKNKQ ERDEDNLNYT
550 560 570 580 590
DSFDNRMLRF FVRHLLQRAH QPGWRDHGAE FPDEEELDES SSTSDTSEEE GQDRVQCIPS