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

35 structures for O75475

Entry ID Method Resolution Chain Position Source
1Z9E NMR - A 347-471 PDB
2B4J X-ray 202 A C/D 347-442 PDB
2M16 NMR - A 1-93 PDB
2MSR NMR - B 344-426 PDB
2MTN NMR - A 337-442 PDB
2N3A NMR - B 348-426 PDB
3F9K X-ray 320 A C/G/K/O/S/W/a/e/i/m/q/u 347-435 PDB
3HPG X-ray 328 A G/H/I/J/K/L 347-435 PDB
3HPH X-ray 264 A E/F/G/H 348-435 PDB
3U88 X-ray 300 A C/D 347-435 PDB
3ZEH NMR - A 3-100 PDB
4FU6 X-ray 210 A A 1-135 PDB
5N88 X-ray 170 A PDB
5OYM X-ray 205 A A/B/C/D/E/F/G/H 345-431 PDB
5YI9 NMR - A 345-442 PDB
6EMO NMR - A 345-442 PDB
6EMP NMR - A 345-442 PDB
6EMQ NMR - A 345-443 PDB
6EMR NMR - A 345-442 PDB
6S01 EM 320 A K 1-530 PDB
6TRJ X-ray 130 A A 345-430 PDB
6TVM NMR - A/B 345-467 PDB
6ZV0 NMR - A 345-431 PDB
7OUF EM 300 A C/F 1-325 PDB
7OUG EM 310 A C/F 1-325 PDB
7OUH EM 350 A C/F 1-325 PDB
7PEL EM 334 A C/F 1-325 PDB
7Z1Z EM 350 A Q/R 347-435 PDB
8CBN EM 334 A K/L 1-530 PDB
8CBQ EM 400 A K 1-530 PDB
8PC5 EM 304 A K 1-530 PDB
8PC6 EM 302 A K 1-530 PDB
8PEO EM 269 A K 1-530 PDB
8PEP EM 333 A K 1-530 PDB
AF-O75475-F1 Predicted AlphaFoldDB

423 variants for O75475

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4993858
rs760199566
2 T>S No ClinGen
ExAC
gnomAD
rs772863448
CA372980049
3 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs772863448
CA4993857
3 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs149706980
CA4993855
4 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477423534
CA372980021
7 P>A No ClinGen
TOPMed
gnomAD
rs1430061223
CA372980018
7 P>L No ClinGen
TOPMed
rs1477423534
CA372980020
7 P>S No ClinGen
TOPMed
gnomAD
CA4993850
COSM1756086
COSM1756087
COSM1756088
rs770076544
19 P>L skin urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs781250003
CA4993848
20 H>Y No ClinGen
ExAC
gnomAD
CA372979695
rs1228930937
25 V>I No ClinGen
TOPMed
gnomAD
CA372979670
rs771167174
26 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA189458069
rs773350105
27 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs575796724
CA4993807
27 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1010292841
CA189458066
29 P>S No ClinGen
TOPMed
CA372979622
rs1435004205
30 D>G No ClinGen
TOPMed
CA372979611
rs1293269200
31 G>R No ClinGen
TOPMed
CA189458063
rs200896169
34 K>E No ClinGen
1000Genomes
rs1368693522
CA372979566
34 K>N No ClinGen
TOPMed
CA189458060
rs893272867
35 P>L No ClinGen
gnomAD
rs1338316787
CA372979546
36 P>S No ClinGen
gnomAD
rs1432509820
CA372979512
38 N>S No ClinGen
gnomAD
CA4993804
rs748748576
41 P>L No ClinGen
ExAC
gnomAD
rs769181268
CA4993802
COSM1107429
COSM1107428
50 T>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4993778
rs189729708
52 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372978430
rs1317551545
56 K>E No ClinGen
TOPMed
rs757963824
CA372978418
56 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1306041831
CA372978396
58 I>V No ClinGen
gnomAD
CA372978376
rs1428902151
59 F>Y No ClinGen
gnomAD
rs1396877687
CA372978327
63 E>K No ClinGen
TOPMed
gnomAD
rs1396877687
CA372978325
63 E>Q No ClinGen
TOPMed
gnomAD
TCGA novel 66 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1024734089
CA189445957
67 K>E No ClinGen
Ensembl
CA372978200
rs1199743722
71 P>A No ClinGen
gnomAD
rs753774349
CA4993772
76 G>D No ClinGen
ExAC
gnomAD
rs750699133
CA4993769
85 D>N No ClinGen
ExAC
gnomAD
TCGA novel 86 N>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372977972
rs1422426991
87 N>H No ClinGen
TOPMed
CA372977945
rs1254988648
89 K>E No ClinGen
gnomAD
rs1223593491
CA372977940
89 K>R No ClinGen
gnomAD
rs762044269
CA4993767
90 V>M No ClinGen
ExAC
gnomAD
rs764202919
CA4993765
94 S>G No ClinGen
ExAC
gnomAD
CA4993764
rs202096899
94 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202096899
CA4993763
94 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 97 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745747928
CA4993733
99 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA372977570
rs1355515622
99 T>I No ClinGen
gnomAD
rs200331114
CA189444596
100 K>E No ClinGen
gnomAD
rs1247878787
CA372977567
100 K>T No ClinGen
gnomAD
rs757061812
CA4993731
103 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs757980278
CA189444590
104 A>T No ClinGen
gnomAD
CA372977537
rs1405337580
104 A>V No ClinGen
gnomAD
rs1165929690
CA372977533
105 S>* No ClinGen
gnomAD
CA372977528
rs1387943512
106 S>F No ClinGen
gnomAD
CA4993729
rs778108645
106 S>P No ClinGen
ExAC
gnomAD
CA372977521
rs1475468940
107 D>G No ClinGen
gnomAD
rs758651313
CA4993728
109 E>K No ClinGen
ExAC
gnomAD
CA4993727
rs752840326
109 E>V No ClinGen
ExAC
gnomAD
rs1157602959
CA372977483
113 K>E No ClinGen
TOPMed
rs765296080
CA4993725
113 K>N No ClinGen
ExAC
gnomAD
CA4993724
rs150955334
115 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4993723
rs754356320
116 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1215427040
CA372977461
116 S>N No ClinGen
gnomAD
CA372977458
rs2821529
CA189444574
116 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372977449
rs1357121980
118 S>A No ClinGen
TOPMed
rs761000980
CA4993721
118 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 120 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA189444565
rs866468951
122 T>N No ClinGen
gnomAD
rs1305422833
CA372977416
123 D>H No ClinGen
TOPMed
gnomAD
rs1305422833
CA372977417
123 D>N No ClinGen
TOPMed
gnomAD
rs1305422833
CA372977415
123 D>Y No ClinGen
TOPMed
gnomAD
CA4993719
rs762532520
124 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA372977404
rs1428258460
124 H>R No ClinGen
gnomAD
rs1171526472
CA372977402
125 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1587500390
CA372977390
126 E>G No ClinGen
Ensembl
CA372977385
rs1410248336
127 K>E No ClinGen
gnomAD
rs535397790
CA189444563
127 K>T No ClinGen
Ensembl
rs1421187157
CA372977375
128 A>D No ClinGen
TOPMed
gnomAD
CA372977376
rs1421187157
128 A>V No ClinGen
TOPMed
gnomAD
CA4993717
rs774863252
129 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs893717012
CA189444558
130 N>S No ClinGen
Ensembl
rs1286593480
CA372977356
131 E>A No ClinGen
TOPMed
CA372977339
rs1302608555
132 D>N No ClinGen
gnomAD
CA372977334
rs1232609909
132 D>V No ClinGen
TOPMed
rs749410335
CA189444264
134 T>I No ClinGen
ExAC
gnomAD
CA4993685
rs749410335
134 T>S No ClinGen
ExAC
gnomAD
CA372977320
rs1336710401
135 K>E No ClinGen
TOPMed
CA372977310
rs1159694548
136 A>G No ClinGen
gnomAD
rs756615693
CA4993683
136 A>T No ClinGen
ExAC
gnomAD
CA4993682
rs750923103
137 V>A No ClinGen
ExAC
gnomAD
rs1001300282
CA189444256
139 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4993681
rs767924101
139 I>V No ClinGen
ExAC
gnomAD
CA4993680
rs757616100
140 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs549398356
CA4993679
141 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA372977281
rs1485560915
141 T>I No ClinGen
TOPMed
gnomAD
rs549398356
CA372977284
141 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1261845395
CA372977261
144 A>G No ClinGen
TOPMed
gnomAD
CA372977244
rs764972297
147 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA4993678
rs764972297
147 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA372977243
CA372977242
rs759060429
147 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA4993676
rs372879993
148 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372977170
rs1587482037
156 Q>E No ClinGen
Ensembl
rs372344500
CA4993652
158 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774203337
CA4993650
161 E>G No ClinGen
ExAC
gnomAD
CA4993649
rs768328653
162 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs921084669
CA189442002
167 T>A No ClinGen
TOPMed
CA4993646
rs769897877
168 A>T No ClinGen
ExAC
gnomAD
CA372977090
rs1172645329
168 A>V No ClinGen
gnomAD
rs946583944
CA189441962
170 A>G No ClinGen
TOPMed
CA189441979
rs935437144
170 A>P No ClinGen
TOPMed
CA372977067
rs1490978027
173 N>H No ClinGen
gnomAD
rs367576816
CA189441954
175 K>E No ClinGen
ESP
TOPMed
CA372977004
rs1251460780
182 R>Q No ClinGen
gnomAD
CA372976998
rs758670344
183 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs758670344
CA4993640
183 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4993641
rs758670344
183 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA189441938
rs956847517
184 A>P No ClinGen
TOPMed
rs776695490
CA4993621
185 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4993620
rs770903908
186 T>K No ClinGen
ExAC
gnomAD
CA4993619
rs747601975
188 V>I No ClinGen
ExAC
gnomAD
CA4993618
rs773561984
189 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA4993617
rs772592281
190 I>S No ClinGen
ExAC
gnomAD
CA372976740
rs1261756578
191 P>L No ClinGen
TOPMed
rs1450778390
CA372976743
191 P>S No ClinGen
gnomAD
rs1457959490
CA372976729
193 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 194 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1195815666
CA372976713
195 G>V No ClinGen
TOPMed
CA372976684
CA372976685
rs1470964808
199 M>I No ClinGen
gnomAD
rs1383474814
CA372976682
200 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 201 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372976667
rs1404580057
202 Q>E No ClinGen
TOPMed
CA372976651
rs1470785710
204 C>S No ClinGen
gnomAD
CA4993614
rs755835945
205 P>L No ClinGen
ExAC
gnomAD
CA372976644
rs1165155112
205 P>S No ClinGen
TOPMed
TCGA novel 207 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242078354
CA372976625
208 S>C No ClinGen
gnomAD
rs780809594
CA4993612
208 S>R No ClinGen
ExAC
rs1242078354
CA372976627
208 S>R No ClinGen
gnomAD
rs751551810
CA4993610
210 I>T No ClinGen
ExAC
gnomAD
CA4993611
rs756698301
210 I>V No ClinGen
ExAC
gnomAD
rs752625332
CA4993588
212 T>I No ClinGen
ExAC
gnomAD
rs752625332
CA372976583
212 T>S No ClinGen
ExAC
gnomAD
CA4993586
rs754738399
217 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA4993585
rs753629397
217 S>I No ClinGen
ExAC
gnomAD
rs766532453
CA4993584
217 S>R No ClinGen
ExAC
TOPMed
CA372976542
rs1350927947
218 K>R No ClinGen
gnomAD
rs760896619
CA4993583
221 G>W No ClinGen
ExAC
gnomAD
CA372976479
rs1431495970
226 Q>P No ClinGen
TOPMed
gnomAD
rs1363101416
CA372976468
228 K>* No ClinGen
TOPMed
TCGA novel 229 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4993582
rs368762970
230 Q>P No ClinGen
ESP
ExAC
TOPMed
CA372976442
rs1271645469
231 P>L No ClinGen
TOPMed
CA372976429
rs1333752732
233 K>R No ClinGen
TOPMed
rs1301797721
CA372976403
236 E>D No ClinGen
gnomAD
CA372976397
rs916851721
237 G>D No ClinGen
TOPMed
gnomAD
rs1213906824
CA372976401
237 G>S No ClinGen
TOPMed
rs916851721
CA189436419
237 G>V No ClinGen
TOPMed
gnomAD
rs1406803953
CA372976368
241 E>G No ClinGen
gnomAD
CA372976371
rs1165832328
241 E>K No ClinGen
gnomAD
TCGA novel 242 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372976364
rs1166824966
242 D>N No ClinGen
gnomAD
CA372976362
rs1166824966
242 D>Y No ClinGen
gnomAD
rs1264405198
CA372976356
243 K>E No ClinGen
gnomAD
rs774973869
CA4993579
243 K>N No ClinGen
ExAC
gnomAD
CA4993578
rs374605313
244 P>R No ClinGen
ESP
ExAC
gnomAD
TCGA novel 246 K>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA189436417
rs202213883
246 K>R No ClinGen
1000Genomes
CA372976324
rs1444736852
247 E>D No ClinGen
TOPMed
rs188943134
CA4993576
248 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4993577
rs763254518
248 P>T No ClinGen
ExAC
gnomAD
CA372976314
rs1272472580
249 D>A No ClinGen
gnomAD
rs1563870952
CA372976316
249 D>Y No ClinGen
Ensembl
CA372976301
rs1322961362
251 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4993573
rs777213657
252 E>Q No ClinGen
ExAC
gnomAD
CA4993572
rs771555544
253 G>E No ClinGen
ExAC
gnomAD
CA372976287
rs1281432465
253 G>R No ClinGen
gnomAD
CA372976276
rs1305402238
254 K>N No ClinGen
gnomAD
rs143334212
CA4993571
254 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372976261
rs1434944011
256 E>D No ClinGen
gnomAD
CA372976259
rs1185609759
257 V>I No ClinGen
TOPMed
rs192700013
CA4993569
260 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA372976213
rs1587467768
263 N>S No ClinGen
Ensembl
CA372976201
rs1322950881
265 A>P No ClinGen
TOPMed
gnomAD
rs539797254
CA4993566
266 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1173627841
CA372976184
267 T>I No ClinGen
TOPMed
gnomAD
TCGA novel 267 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173627841
CA372976185
267 T>R No ClinGen
TOPMed
gnomAD
rs376631319
CA189436343
268 G>E No ClinGen
ESP
TOPMed
TCGA novel 269 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346367491
CA372976178
269 V>I No ClinGen
TOPMed
CA372976164
rs1291875192
271 S>A No ClinGen
TOPMed
CA372976159
rs1479511297
272 T>A No ClinGen
gnomAD
rs1479511297
CA372976160
272 T>P No ClinGen
gnomAD
COSM1107417
CA4993562
COSM1107416
rs751647340
274 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4993561
rs10962043
275 S>C No ClinGen
ExAC
gnomAD
rs10962043
CA189436335
275 S>F No ClinGen
ExAC
gnomAD
CA4993560
rs148785652
278 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775722008
CA4993559
279 G>V No ClinGen
ExAC
TOPMed
rs1448700242
CA372976078
282 Q>E No ClinGen
TOPMed
CA372976074
rs1285671752
282 Q>H No ClinGen
gnomAD
rs947711014
CA189436273
282 Q>P No ClinGen
Ensembl
CA4993556
rs770188794
284 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs916232191
CA189436258
284 G>S No ClinGen
Ensembl
CA4993534
rs761389620
287 K>T No ClinGen
ExAC
gnomAD
CA372975821
rs1466524294
290 G>C No ClinGen
Ensembl
rs768201275
CA4993532
291 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA189435312
rs868050334
291 G>V No ClinGen
Ensembl
CA372975773
rs1485834987
294 F>L No ClinGen
gnomAD
rs1297969374
CA372975762
294 F>L No ClinGen
TOPMed
rs1563869176
CA372975748
295 Q>H No ClinGen
Ensembl
CA372975703
rs1243129270
299 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 299 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 301 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219283433
CA372975646
303 L>V No ClinGen
gnomAD
CA372975623
rs1340790272
305 G>S No ClinGen
TOPMed
CA4993529
rs769573888
CA372975575
308 E>D No ClinGen
ExAC
TOPMed
gnomAD
COSM608227
CA4993528
rs200120477
COSM1650875
COSM608228
310 E>A lung Variant assessed as Somatic; 4.646e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757554088
CA4993526
311 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA4993527
rs781074128
311 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1289336306 312 A>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA372975515
rs1228649633
313 D>G No ClinGen
gnomAD
CA4993525
rs747229063
314 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs778057284
CA4993524
314 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA372975479
rs1487145673
316 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4993523
rs758481578
316 R>H No ClinGen
ExAC
gnomAD
rs752679747
CA4993522
317 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs201269437
CA189435268
318 Q>E No ClinGen
1000Genomes
gnomAD
TCGA novel 320 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372975388
rs1489994668
322 M>I No ClinGen
gnomAD
CA372975393
rs1196528446
322 M>T No ClinGen
gnomAD
CA4993520
rs755383902
323 E>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 325 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761514208
CA4993517
325 E>D No ClinGen
ExAC
gnomAD
rs1488613550
CA372975356
325 E>K No ClinGen
gnomAD
CA372975336
rs1387707393
326 Q>R No ClinGen
TOPMed
rs1182975880
CA372974415
330 D>Y No ClinGen
TOPMed
rs1276946608
CA372974408
331 E>Q No ClinGen
gnomAD
rs200620037
CA4993425
332 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs200620037
CA4993426
332 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA372974393
rs1330113515
333 K>R No ClinGen
TOPMed
gnomAD
CA4993424
rs754745423
334 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs770185407
CA189433169
335 P>A No ClinGen
TOPMed
CA372974381
rs1174245428
335 P>L No ClinGen
gnomAD
CA189433165
rs770185407
335 P>S No ClinGen
TOPMed
CA4993421
rs779761524
339 K>Q No ClinGen
ExAC
gnomAD
rs748345414
CA4993419
340 V>L No ClinGen
ExAC
gnomAD
TCGA novel 341 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1237723354
CA372974338
341 E>D No ClinGen
gnomAD
TCGA novel 341 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4993418
rs202106185
342 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs767381479
CA4993417
CA372974331
342 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs199748527
CA4993416
343 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs751355232
CA4993415
343 K>R No ClinGen
ExAC
gnomAD
COSM1107406
rs1253260060
CA372974323
344 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA189433134
rs368212391
344 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA4993380
rs201902166
348 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4993379
COSM1107405
rs769340196
351 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs374039409
CA4993375
353 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777717521
CA4993374
354 R>W No ClinGen
ExAC
gnomAD
rs1278629030
COSM1107404
CA372974236
356 H>N endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA189432489
rs941072423
356 H>R No ClinGen
TOPMed
TCGA novel 361 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4993373
rs758281246
362 S>A No ClinGen
ExAC
gnomAD
CA4993371
rs776922635
365 I>V No ClinGen
ExAC
gnomAD
CA4993370
rs768692337
367 N>H No ClinGen
ExAC
gnomAD
rs1198997715
CA372974142
367 N>S No ClinGen
TOPMed
rs201370205
CA4993343
369 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780347835
CA4993344
369 D>H No ClinGen
ExAC
gnomAD
CA189432281
rs536287269
369 D>V No ClinGen
gnomAD
rs1587454461
CA372974063
370 V>L No ClinGen
Ensembl
rs750538558
CA372974047
371 N>I No ClinGen
ExAC
gnomAD
CA4993341
rs767705412
CA372974045
371 N>K No ClinGen
ExAC
gnomAD
rs750538558
CA4993342
371 N>S No ClinGen
ExAC
gnomAD
rs757893193
CA4993340
374 I>V No ClinGen
ExAC
gnomAD
CA4993339
rs752080992
375 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 378 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372973680
rs1333444272
378 D>H No ClinGen
gnomAD
rs956538016
CA189432269
380 L>P No ClinGen
Ensembl
rs775666819
CA4993336
384 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA4993335
rs766032094
388 Q>P No ClinGen
ExAC
gnomAD
rs1156497183
CA372973586
391 Q>H No ClinGen
TOPMed
gnomAD
CA189432232
rs756784732
393 H>Q No ClinGen
gnomAD
TCGA novel 393 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4993334
rs760253132
394 T>R No ClinGen
ExAC
gnomAD
rs1233260750
CA372973564
395 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs772776478
CA4993333
396 M>I No ClinGen
ExAC
gnomAD
rs1462057643
CA372973549
397 I>L No ClinGen
TOPMed
gnomAD
rs1255333841
CA372973543
397 I>M No ClinGen
gnomAD
CA4993310
COSM1554440
rs761406442
403 I>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA372973493
rs1319935365
403 I>T No ClinGen
TOPMed
gnomAD
COSM1330620
rs1259531145
CA372973491
404 R>G ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA372973470
rs867815405
407 K>R No ClinGen
TOPMed
gnomAD
CA189432070
rs867815405
407 K>T No ClinGen
TOPMed
gnomAD
CA4993309
rs183152544
408 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4993308
rs768640507
409 S>R No ClinGen
ExAC
gnomAD
rs1408498843 409 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421309824
CA372973447
410 Q>H No ClinGen
gnomAD
CA4993307
rs762792082
411 V>I No ClinGen
ExAC
rs1192711906
CA372973434
413 M>V No ClinGen
gnomAD
rs373573092
CA189432048
418 M>T No ClinGen
ESP
TOPMed
gnomAD
CA4993305
rs572598401
418 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs746137053
CA4993304
420 Y>F No ClinGen
ExAC
gnomAD
CA189432018
rs752023757
422 K>E No ClinGen
TOPMed
CA372973332
rs1290693747
426 M>R No ClinGen
gnomAD
CA4993302
rs771012227
429 V>F No ClinGen
ExAC
gnomAD
rs1410918865
CA372973284
433 D>G No ClinGen
gnomAD
CA4993301
rs145682359
434 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4993300
rs369700773
434 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372973274
rs1273437501
435 V>M No ClinGen
gnomAD
CA4993298
rs141982263
436 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4993297
rs779289059
438 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1225822010
CA372973258
438 Q>K No ClinGen
TOPMed
CA372973236
rs1169941966
441 N>S No ClinGen
gnomAD
CA372973228
rs1421459155
442 K>R No ClinGen
TOPMed
gnomAD
CA4993294
rs138825013
444 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372973216
rs138825013
444 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA372973207
rs1477823859
445 A>P No ClinGen
gnomAD
rs761302611
CA4993293
447 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 447 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201037914
CA189431911
448 R>G No ClinGen
1000Genomes
rs376012030
CA4993292
449 Q>* No ClinGen
ESP
ExAC
gnomAD
CA372973156
rs376012030
449 Q>E No ClinGen
ESP
ExAC
gnomAD
rs763494850
CA4993291
450 H>D No ClinGen
ExAC
gnomAD
CA372973137
rs1237608411
450 H>R No ClinGen
gnomAD
CA4993290
rs763000735
453 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA189431881
rs979706824
455 K>E No ClinGen
Ensembl
TCGA novel 455 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276964753
CA372973080
455 K>T No ClinGen
gnomAD
CA372973061
rs1218940055
456 T>N No ClinGen
gnomAD
rs371759432
CA4993289
459 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372973029
rs1181045277
459 Q>P No ClinGen
TOPMed
CA4993288
rs769818268
460 G>E No ClinGen
ExAC
gnomAD
rs1330092695
CA372972972
464 P>S No ClinGen
gnomAD
TCGA novel 464 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1563864795
CA372972961
465 N>H No ClinGen
Ensembl
CA189431870
rs992092747
465 N>I No ClinGen
gnomAD
rs1356135373
CA16040490
466 K>R No ClinGen
gnomAD
CA372972922
rs1413646864
468 L>V No ClinGen
TOPMed
gnomAD
CA4993286
rs776512249
469 E>G No ClinGen
ExAC
gnomAD
CA372972916
rs1425578383
469 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1438061390
CA372972892
470 K>N No ClinGen
gnomAD
CA4993284
rs747193716
471 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA4993285
rs771190581
471 E>G No ClinGen
ExAC
gnomAD
RCV000972791
rs61744944
CA4993282
472 Q>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4993283
rs61744944
472 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4993230
rs753340175
474 G>A No ClinGen
ExAC
gnomAD
rs908187059
CA189429943
475 S>L No ClinGen
Ensembl
CA372972634
rs1190150392
476 K>E No ClinGen
gnomAD
rs1198946440
CA372972625
476 K>R No ClinGen
TOPMed
CA189429933
rs759337368
478 L>P No ClinGen
Ensembl
CA4993226
rs35678110
RCV000888797
478 L>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1317213798
CA372972583
479 N>K No ClinGen
gnomAD
rs762067962
CA4993225
479 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA372972571
COSM752961
rs1208687395
480 G>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA189429917
rs920981955
483 D>E No ClinGen
Ensembl
rs142155589
RCV000926682
CA4993224
484 A>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1310685576
CA372972513
485 Q>E No ClinGen
TOPMed
gnomAD
rs1310685576
CA372972516
485 Q>K No ClinGen
TOPMed
gnomAD
CA372972485
rs1587448557
486 D>E No ClinGen
Ensembl
rs1300903196
CA372972491
486 D>G No ClinGen
gnomAD
CA4993222
rs763047272
488 N>H No ClinGen
ExAC
gnomAD
CA4993223
rs763047272
488 N>Y No ClinGen
ExAC
gnomAD
CA372972458
rs1478020185
489 Q>K No ClinGen
TOPMed
CA372972439
rs770210781
490 P>A No ClinGen
ExAC
gnomAD
CA4993219
rs760085843
490 P>L No ClinGen
ExAC
gnomAD
CA4993220
rs770210781
490 P>S No ClinGen
ExAC
gnomAD
TCGA novel 491 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372972424
rs1563863046
491 Q>P No ClinGen
Ensembl
CA4993217
rs375572787
494 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201652868
CA4993214
495 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779610320
CA4993213
496 S>N No ClinGen
ExAC
gnomAD
CA372972378
rs1306721585
496 S>R No ClinGen
TOPMed
gnomAD
CA4993212
rs779610320
496 S>T No ClinGen
ExAC
gnomAD
rs1454446427
CA372972376
497 N>D No ClinGen
gnomAD
rs750350689
CA4993211
497 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA4993210
rs750350689
497 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs757071172
CA4993208
499 D>A No ClinGen
ExAC
gnomAD
rs200651194
CA189429822
COSM54554
499 D>N central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1197458016
CA372972356
500 S>G No ClinGen
gnomAD
rs958031604
CA189429799
501 K>E No ClinGen
gnomAD
rs751310051
CA4993206
503 N>K No ClinGen
ExAC
gnomAD
rs1235370206
CA372972328
503 N>S No ClinGen
gnomAD
CA372972321
rs1033733877
504 H>N No ClinGen
TOPMed
gnomAD
CA189429758
rs1002304631
504 H>R No ClinGen
Ensembl
CA189429782
rs1033733877
504 H>Y No ClinGen
TOPMed
gnomAD
rs1239465994
CA372972313
505 E>* No ClinGen
gnomAD
rs1239465994
CA372972315
505 E>K No ClinGen
gnomAD
rs1336900801
CA372972291
506 A>D No ClinGen
gnomAD
CA4993205
rs144962736
507 S>G No ClinGen
ESP
ExAC
rs145156584
CA372972282
507 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1402012272
CA372972275
507 S>R No ClinGen
gnomAD
rs145156584
CA4993204
507 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752789885
CA372972268
508 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs752789885
CA189429723
508 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs752789885
CA4993203
508 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 509 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 510 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372972237
rs1156324091
510 K>N No ClinGen
TOPMed
gnomAD
CA4993169
rs745400847
512 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA4993168
rs776056461
513 S>F No ClinGen
ExAC
gnomAD
rs746939796
CA4993166
515 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA372971974
rs1264627724
516 E>D No ClinGen
TOPMed
gnomAD
rs768464354
CA4993165
516 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4993164
rs574687096
516 E>V No ClinGen
ExAC
gnomAD
rs779218966
CA4993162
518 E>* No ClinGen
ExAC
gnomAD
CA4993161
rs755087616
518 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs748249493 518 E>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA4993160
rs754038238
519 T>I No ClinGen
ExAC
TCGA novel 519 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238933901
CA372971913
520 E>G No ClinGen
TOPMed
rs756732844
CA4993157
521 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs750926672
CA4993155
521 I>M No ClinGen
ExAC
gnomAD
CA4993156
rs756732844
521 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 522 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4993153
rs141196278
523 L>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1468134681
CA372971841
524 K>R No ClinGen
gnomAD
rs1216173741
CA372971827
525 D>G No ClinGen
gnomAD
CA4993152
rs762256313
525 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA4993151
rs775682417
526 S>* No ClinGen
ExAC
gnomAD
CA372971812
rs1456777112
526 S>T No ClinGen
TOPMed
gnomAD
CA4993150
rs774525649
527 T>A No ClinGen
ExAC
gnomAD
rs764951991
CA4993149
529 D>G No ClinGen
ExAC
gnomAD
rs1374649979
CA372971774
529 D>N No ClinGen
TOPMed
gnomAD
CA4993147
rs759186338
531 N>Q No ClinGen
ExAC
gnomAD

1 associated diseases with O75475

Without disease ID

2 regional properties for O75475

Type Name Position InterPro Accession
domain PWWP domain 5 - 86 IPR000313
domain Lens epithelium-derived growth factor, integrase-binding domain 349 - 449 IPR021567

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Remains chromatin-associated throughout the cell cycle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
euchromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.
heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription.
nuclear periphery The portion of the nuclear lumen proximal to the inner nuclear membrane.
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.

7 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
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.
double-stranded DNA binding Binding to double-stranded DNA.
RNA binding Binding to an RNA molecule or a portion thereof.
supercoiled DNA binding Binding to supercoiled DNA. For example, during replication and transcription, template DNA is negatively supercoiled in the receding downstream DNA and positively supercoiled in the approaching downstream DNA.
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.
transcription coregulator activity A transcription regulator activity that modulates 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. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators 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.

5 GO annotations of biological process

Name Definition
mRNA 5'-splice site recognition Recognition of the intron 5'-splice site by components of the assembling spliceosome.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to heat Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism.
response to oxidative stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9XSK7 HDGF Hepatoma-derived growth factor Bos taurus (Bovine) PR
Q8MJG1 PSIP1 PC4 and SFRS1-interacting protein Bos taurus (Bovine) PR
Q66T72 PSIP1 PC4 and SFRS1-interacting protein Felis catus (Cat) (Felis silvestris catus) PR
Q5XXA9 PSIP1 Lens epithelium-derived growth factor Gallus gallus (Chicken) PR
P51858 HDGF Hepatoma-derived growth factor Homo sapiens (Human) PR
Q7Z4V5 HDGFL2 Hepatoma-derived growth factor-related protein 2 Homo sapiens (Human) PR
Q9Y3E1 HDGFL3 Hepatoma-derived growth factor-related protein 3 Homo sapiens (Human) PR
P51859 Hdgf Hepatoma-derived growth factor Mus musculus (Mouse) PR
Q9JMG7 Hdgfl3 Hepatoma-derived growth factor-related protein 3 Mus musculus (Mouse) PR
Q99JF8 Psip1 PC4 and SFRS1-interacting protein Mus musculus (Mouse) PR
Q8VHK7 Hdgf Hepatoma-derived growth factor Rattus norvegicus (Rat) PR
Q923W4 Hdgfl3 Hepatoma-derived growth factor-related protein 3 Rattus norvegicus (Rat) PR
Q812D1 Psip1 PC4 and SFRS1-interacting protein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTRDFKPGDL IFAKMKGYPH WPARVDEVPD GAVKPPTNKL PIFFFGTHET AFLGPKDIFP
70 80 90 100 110 120
YSENKEKYGK PNKRKGFNEG LWEIDNNPKV KFSSQQAATK QSNASSDVEV EEKETSVSKE
130 140 150 160 170 180
DTDHEEKASN EDVTKAVDIT TPKAARRGRK RKAEKQVETE EAGVVTTATA SVNLKVSPKR
190 200 210 220 230 240
GRPAATEVKI PKPRGRPKMV KQPCPSESDI ITEEDKSKKK GQEEKQPKKQ PKKDEEGQKE
250 260 270 280 290 300
EDKPRKEPDK KEGKKEVESK RKNLAKTGVT STSDSEEEGD DQEGEKKRKG GRNFQTAHRR
310 320 330 340 350 360
NMLKGQHEKE AADRKRKQEE QMETEQQNKD EGKKPEVKKV EKKRETSMDS RLQRIHAEIK
370 380 390 400 410 420
NSLKIDNLDV NRCIEALDEL ASLQVTMQQA QKHTEMITTL KKIRRFKVSQ VIMEKSTMLY
430 440 450 460 470 480
NKFKNMFLVG EGDSVITQVL NKSLAEQRQH EEANKTKDQG KKGPNKKLEK EQTGSKTLNG
490 500 510 520
GSDAQDGNQP QHNGESNEDS KDNHEASTKK KPSSEERETE ISLKDSTLDN