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

20 structures for P42568

Entry ID Method Resolution Chain Position Source
2LM0 NMR - A 490-568 PDB
2MV7 NMR - A 500-568 PDB
2N4Q NMR - B 500-568 PDB
2NDF NMR - A 1-138 PDB
2NDG NMR - A 1-138 PDB
4TMP X-ray 230 A A/C 1-138 PDB
5HJB X-ray 270 A A 1-138 PDB
5HJD X-ray 281 A A/C/E/G/K/N/Q/T 1-138 PDB
5YYF X-ray 190 A A/C 1-138 PDB
6B7G NMR - A 500-568 PDB
6L5Z X-ray 305 A A 1-138 PDB
6LS6 X-ray 220 A A/B 1-138 PDB
6MIL X-ray 193 A A/C 1-138 PDB
6MIM X-ray 252 A A/C 1-138 PDB
7EIC X-ray 195 A A/B 1-138 PDB
7EID X-ray 200 A A/B 1-138 PDB
7VKG X-ray 183 A A 1-138 PDB
7VKH X-ray 225 A A/B 1-138 PDB
8PJ7 X-ray 126 A A 1-142 PDB
AF-P42568-F1 Predicted AlphaFoldDB

358 variants for P42568

Variant ID(s) Position Change Description Diseaes Association Provenance
rs771014168
CA373109831
3 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA5006105
rs771014168
3 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA373109793
rs1421706169
5 C>Y No ClinGen
TOPMed
CA5006042
rs768596311
7 V>L No ClinGen
ExAC
gnomAD
CA191191030
rs868084875
21 K>R No ClinGen
Ensembl
CA5006037
rs781473723
38 G>A No ClinGen
ExAC
gnomAD
CA5006035
rs747781747
39 P>A No ClinGen
ExAC
gnomAD
rs778672156
CA5006034
39 P>L No ClinGen
ExAC
gnomAD
rs753346268
CA5006032
40 E>G No ClinGen
ExAC
gnomAD
CA191191027
rs1046985029
41 H>Y No ClinGen
Ensembl
TCGA novel 42 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373109543
rs1587140265
42 S>N No ClinGen
Ensembl
rs919221390
CA191191025
45 Q>E No ClinGen
gnomAD
TCGA novel 54 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1040817224
CA191191024
CA373109429
57 E>D No ClinGen
TOPMed
gnomAD
CA5006028
rs767415332
COSM455753
60 P>S Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA373107690
rs1452158014
67 K>Q No ClinGen
Ensembl
CA191169192
rs866620255
68 D>Y No ClinGen
Ensembl
CA5005998
rs748965005
73 V>I No ClinGen
ExAC
gnomAD
CA5005997
rs775340408
82 I>L No ClinGen
ExAC
TCGA novel 86 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 93 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373106932
rs1346100633
99 R>C No ClinGen
TOPMed
CA5005976
rs776217577
99 R>H No ClinGen
ExAC
gnomAD
rs1413865373
CA373106813
107 H>N No ClinGen
gnomAD
CA191168122
rs995116043
107 H>R No ClinGen
TOPMed
gnomAD
rs1402779025
CA373106796
108 L>F No ClinGen
gnomAD
rs1411582081
CA373106744
112 P>S No ClinGen
gnomAD
CA373106674
rs1368424671
117 L>F No ClinGen
TOPMed
CA191168121
rs571802352
118 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
rs1187221081
CA373106596
123 T>S No ClinGen
gnomAD
CA191168120
rs551775909
125 N>S No ClinGen
1000Genomes
CA373106540
rs1443528335
127 P>L No ClinGen
gnomAD
CA5005971
rs747894206
128 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 128 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA191168118
rs747894206
128 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA191168117
rs1012388121
129 E>V No ClinGen
TOPMed
CA191168116
rs894940259
130 D>E No ClinGen
TOPMed
CA373106456
rs1351901745
140 G>E No ClinGen
gnomAD
rs1272673631
CA373109350
141 D>Y No ClinGen
TOPMed
rs1458256481
CA373109342
142 P>S No ClinGen
TOPMed
CA373109322
rs1167034803
145 S>G No ClinGen
TOPMed
gnomAD
rs1278686117
CA373109296
148 T>S No ClinGen
gnomAD
rs111567815
CA191163796
149 S>C No ClinGen
Ensembl
CA373109291
COSM4163691
rs1449430319
149 S>T thyroid [Cosmic] No ClinGen
cosmic curated
gnomAD
CA191163795
rs369475839
150 S>C No ClinGen
ESP
rs543359595
CA373109273
151 S>R No ClinGen
1000Genomes
TOPMed
rs1391295058
CA373109265
152 S>R No ClinGen
TOPMed
gnomAD
CA373109261
rs1472118771
153 S>N No ClinGen
TOPMed
rs1343470102
CA373109244
155 S>N No ClinGen
TOPMed
gnomAD
rs1343470102
CA373109243
155 S>T No ClinGen
TOPMed
gnomAD
CA373109239
rs1465852488
156 S>G No ClinGen
gnomAD
rs1244692242
CA373109229
157 S>N No ClinGen
gnomAD
CA373109223
rs1220555592
158 S>G No ClinGen
TOPMed
CA373109215
rs1220382021
159 S>G No ClinGen
gnomAD
rs1451763404
CA373109211
159 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1291789500
CA373109199
161 S>G No ClinGen
gnomAD
CA373109195
rs1202711486
161 S>I No ClinGen
gnomAD
rs772542081
CA5005928
163 S>R No ClinGen
ExAC
TOPMed
CA373109158
rs1230775302
166 S>N No ClinGen
gnomAD
rs1274258835
CA373109150
167 S>I No ClinGen
gnomAD
CA191163789
rs1017548006
168 S>N No ClinGen
Ensembl
rs1437469208
CA373109135
169 S>N No ClinGen
gnomAD
CA373109130
rs1351798793
170 S>C No ClinGen
gnomAD
CA373109120
rs1306612727
171 S>C No ClinGen
gnomAD
CA5005909
rs768418734
171 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1371780692
CA373109113
172 S>C No ClinGen
gnomAD
CA191163788
rs17853542
173 S>G No ClinGen
gnomAD
CA373109081
rs1190073346
176 S>N No ClinGen
gnomAD
rs1478169260
CA373109075
177 S>G No ClinGen
gnomAD
rs1270555827
CA373109072
177 S>T No ClinGen
gnomAD
rs1202820223
CA373109064
178 S>N No ClinGen
TOPMed
gnomAD
rs746105857
CA5005892
179 S>N No ClinGen
ExAC
gnomAD
rs1275343937
CA373109052
180 S>G No ClinGen
gnomAD
rs781125840
CA5005889
180 S>T No ClinGen
ExAC
TOPMed
rs1207212252
CA373109045
181 S>G No ClinGen
gnomAD
CA373109034
rs1278026103
182 S>I No ClinGen
gnomAD
CA191163786
rs769439854
183 S>C No ClinGen
TOPMed
rs757467591
CA5005882
183 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs747492912
CA5005878
185 S>G No ClinGen
ExAC
gnomAD
CA373109013
rs1563956607
185 S>N No ClinGen
Ensembl
CA191163783
rs895620403
187 S>N No ClinGen
Ensembl
CA373108983
rs1379667277
189 S>G No ClinGen
TOPMed
rs200928326
CA5005873
189 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA373108966
rs1224384763
191 T>A No ClinGen
TOPMed
rs765650486
CA5005865
191 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1239623801
CA373108960
192 S>G No ClinGen
TOPMed
CA191163782
rs769358647
192 S>N No ClinGen
Ensembl
CA373108962
rs1239623801
192 S>R No ClinGen
TOPMed
TCGA novel 194 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373108923
rs1174792757
197 H>R No ClinGen
gnomAD
rs1414519136
CA373108916
198 K>R No ClinGen
gnomAD
TCGA novel 200 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5005863
rs750158888
200 M>K No ClinGen
ExAC
gnomAD
CA5005861
rs143824372
202 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1414201297
CA373108888
COSM1107690
202 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA5005860
rs774241234
203 H>Q No ClinGen
ExAC
TCGA novel 205 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373108845
rs1252286588
207 P>R No ClinGen
gnomAD
rs868160290
CA191163781
208 S>A No ClinGen
Ensembl
CA373108840
rs1178671483
208 S>F No ClinGen
gnomAD
rs763970948
CA5005859
209 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs780754753
CA191163780
211 S>P No ClinGen
TOPMed
gnomAD
CA5005858
rs762890034
212 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs755348415
CA5005856
214 H>R No ClinGen
ExAC
gnomAD
CA373108803
rs1332052560
214 H>Y No ClinGen
TOPMed
rs1402756071
CA373108791
215 K>N No ClinGen
TOPMed
TCGA novel 216 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA191163779
rs970939091
219 K>E No ClinGen
TOPMed
TCGA novel 222 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5005854
rs371724984
223 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1394620639
CA373108734
224 D>N No ClinGen
gnomAD
rs771099302
CA5005853
226 N>D No ClinGen
ExAC
gnomAD
rs747041190
CA5005852
226 N>K No ClinGen
ExAC
gnomAD
CA373108717
rs1303919428
226 N>S No ClinGen
TOPMed
gnomAD
rs1407659521
CA373108712
227 K>E No ClinGen
gnomAD
rs941465733
CA191163778
228 S>F No ClinGen
TOPMed
gnomAD
CA373108701
rs941465733
228 S>Y No ClinGen
TOPMed
gnomAD
CA191163777
rs909964294
229 S>F No ClinGen
Ensembl
rs1156243397
CA373108668
233 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778026467
CA5005851
234 K>N No ClinGen
ExAC
rs1456394477
CA373108647
236 P>L No ClinGen
gnomAD
rs758921316
CA5005850
241 P>A No ClinGen
ExAC
gnomAD
rs1218723460
CA373108607
242 L>R No ClinGen
TOPMed
rs201978462
CA5005849
246 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA191163776
rs951584860
COSM608526
248 V>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA373108548
rs1203342715
250 K>N No ClinGen
TOPMed
CA373108543
CA5005846
rs554882810
251 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA373108546
rs779144029
251 M>L No ClinGen
ExAC
gnomAD
rs202095173
CA5005847
251 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA5005848
rs779144029
251 M>V No ClinGen
ExAC
gnomAD
rs1246288131
CA373108536
252 A>D No ClinGen
gnomAD
CA191163774
rs534952443
253 F>C No ClinGen
1000Genomes
rs1465545400
CA373108523
254 K>R No ClinGen
TOPMed
gnomAD
rs368720495
CA5005844
261 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 262 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751012619
CA5005843
262 E>G No ClinGen
ExAC
gnomAD
rs1417089357
CA373108459
263 P>R No ClinGen
TOPMed
CA5005841
rs762794195
264 K>E No ClinGen
ExAC
gnomAD
rs745471698
CA191163773
265 P>L No ClinGen
Ensembl
TCGA novel 266 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373108433
rs1453407877
267 S>T No ClinGen
gnomAD
rs977018657
CA191163771
268 N>K No ClinGen
TOPMed
gnomAD
rs1031452176
CA191163772
268 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA191163770
rs1000336756
272 I>T No ClinGen
TOPMed
gnomAD
CA373108391
rs1290265959
274 S>G No ClinGen
gnomAD
CA373108379
rs1456003467
275 G>V No ClinGen
gnomAD
CA373108373
rs1367693527
276 Q>P No ClinGen
gnomAD
rs1367693527
CA373108374
276 Q>R No ClinGen
gnomAD
CA5005838
rs759412012
277 D>N No ClinGen
ExAC
gnomAD
rs964257782
CA191163769
280 A>S No ClinGen
gnomAD
CA373108347
rs964257782
280 A>T No ClinGen
gnomAD
rs1017979403
CA191163768
282 S>G No ClinGen
Ensembl
rs771233862
CA5005836
282 S>T No ClinGen
ExAC
gnomAD
CA373108326
rs1450151638
283 K>R No ClinGen
gnomAD
CA373108320
rs1181780515
284 R>K No ClinGen
gnomAD
COSM1107687
rs565996384
CA5005835
285 P>L endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA191163767
rs565996384
285 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5005833
rs748591952
286 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs748591952
CA5005832
286 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs749625239
CA5005829
289 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA191163766
rs1049522863
289 D>H No ClinGen
TOPMed
gnomAD
CA191163765
rs749625239
289 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs780409592
CA5005828
293 L>F No ClinGen
ExAC
CA5005827
rs142178265
294 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1365304551
CA373108252
295 A>V No ClinGen
gnomAD
CA373108244
rs144983082
296 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 299 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757972202
CA5005824
301 S>R No ClinGen
ExAC
gnomAD
rs1353949180
CA373108199
302 S>R No ClinGen
gnomAD
CA5005823
rs752542651
303 S>L No ClinGen
ExAC
gnomAD
CA373108192
rs1313522445
304 E>Q No ClinGen
TOPMed
rs765177730
CA5005822
305 A>V No ClinGen
ExAC
gnomAD
rs1196782547
CA373108171
307 F>L No ClinGen
gnomAD
rs1432850376
CA373108168
307 F>S No ClinGen
gnomAD
CA5005821
rs759410364
309 S>N No ClinGen
ExAC
gnomAD
CA5005820
rs758795355
310 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs150329627
CA5005818
312 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373108131
rs372279496
312 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772025765
CA5005816
COSM145631
313 A>T endometrium haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1230399722
CA373108124
314 P>T No ClinGen
gnomAD
rs1283508234
CA373108116
315 P>S No ClinGen
gnomAD
CA373108108
rs1265499106
316 L>P No ClinGen
TOPMed
rs1045511586
CA191163764
317 I>M No ClinGen
Ensembl
TCGA novel 317 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373108093
rs1348400692
319 T>S No ClinGen
gnomAD
rs761995053
CA5005815
320 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs549653424
CA373108064
323 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs569694637
CA5005814
323 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA5005812
rs779730245
324 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs780391319
CA5005811
325 K>N No ClinGen
ExAC
gnomAD
rs770200342
CA5005810
326 Q>E No ClinGen
ExAC
gnomAD
CA373108046
rs1471702722
326 Q>R No ClinGen
gnomAD
CA5005808
rs777439723
327 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs746639759
CA5005809
327 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs140224883
CA191163763
329 D>N No ClinGen
ESP
TOPMed
rs758014622
CA5005807
332 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA191163762
rs113086778
333 V>A No ClinGen
TOPMed
gnomAD
CA373107998
rs113086778
333 V>D No ClinGen
TOPMed
gnomAD
TCGA novel 334 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778303731
CA5005805
334 K>R No ClinGen
ExAC
gnomAD
rs1263144546
CA373107983
335 M>I No ClinGen
gnomAD
CA373107978
rs1429423144
336 G>E No ClinGen
TOPMed
rs368345385
CA5005804
336 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5005801
rs151165803
338 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766266404
CA373107966
338 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs766266404
CA5005802
338 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA373107959
rs1279399291
339 K>R No ClinGen
TOPMed
rs1337515175
CA373107934
342 S>R No ClinGen
gnomAD
CA5005800
rs78515495
344 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139812555
CA5005799
345 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373107906
rs1178620957
347 K>Q No ClinGen
gnomAD
CA5005796
rs763436029
350 S>P No ClinGen
ExAC
gnomAD
CA5005795
rs763436029
350 S>T No ClinGen
ExAC
gnomAD
CA5005794
rs776023664
351 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs201817828
COSM1107684
CA5005793
351 T>M endometrium Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5005790
rs771693368
353 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5005791
rs771693368
353 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1188247014
CA373107836
357 D>E No ClinGen
gnomAD
CA5005788
rs778485937
357 D>Y No ClinGen
ExAC
gnomAD
rs1204970009
CA373107820
360 D>H No ClinGen
gnomAD
CA5005787
rs754128335
362 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA191163757
rs371030955
364 S>L No ClinGen
ESP
TOPMed
CA373107791
rs1383460621
364 S>T No ClinGen
TOPMed
CA5005786
rs183719462
365 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780182872
CA5005785
367 E>K No ClinGen
ExAC
gnomAD
CA373107770
rs1351089027
367 E>V No ClinGen
TOPMed
rs756154143
CA5005784
368 E>G No ClinGen
ExAC
gnomAD
CA191163755
rs199841004
369 N>D No ClinGen
1000Genomes
gnomAD
rs1563956138
CA373107757
369 N>S No ClinGen
Ensembl
CA5005782
rs144467222
372 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144467222
CA373107736
372 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5005781
rs139716096
373 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373107725
rs1277507543
374 S>F No ClinGen
TOPMed
CA5005780
rs757495416
374 S>T No ClinGen
ExAC
gnomAD
TCGA novel 375 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764209749
CA5005778
375 D>V No ClinGen
ExAC
gnomAD
CA373107490
rs1274941417
376 S>C No ClinGen
TOPMed
rs760036227
CA5005755
379 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1274469852
CA373107451
382 A>T No ClinGen
gnomAD
CA373107448
rs1406003409
382 A>V No ClinGen
TOPMed
gnomAD
CA373107428
rs1408209596
385 S>I No ClinGen
gnomAD
CA5005753
rs766745511
385 S>R No ClinGen
ExAC
CA373107417
rs1409785366
387 S>N No ClinGen
gnomAD
CA373107416
rs1409785366
387 S>T No ClinGen
gnomAD
rs200747764
CA191157784
389 S>G No ClinGen
1000Genomes
CA5005751
rs773658574
389 S>I No ClinGen
ExAC
gnomAD
CA373107398
rs1183539393
390 S>A No ClinGen
TOPMed
CA373107382
rs1563938129
392 F>S No ClinGen
Ensembl
CA5005746
rs769485825
398 R>K No ClinGen
ExAC
gnomAD
CA5005745
rs745795039
398 R>S No ClinGen
ExAC
gnomAD
CA373107340
rs1587159867
399 Q>K No ClinGen
Ensembl
rs1480291266
CA373107332
400 Q>E No ClinGen
gnomAD
CA373107328
rs1327007682
400 Q>H No ClinGen
TOPMed
CA5005744
rs781029803
400 Q>R No ClinGen
ExAC
gnomAD
CA373107306
rs1318112911
402 P>S No ClinGen
gnomAD
CA373107291
rs1452517556
404 R>M No ClinGen
gnomAD
rs746966497
CA5005721
404 R>S No ClinGen
ExAC
gnomAD
rs772983915
CA5005720
405 S>Y No ClinGen
ExAC
gnomAD
rs199860808
CA191157548
406 I>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs771915307
CA5005719
409 D>G No ClinGen
ExAC
gnomAD
TCGA novel 409 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA191157547
rs1033444825
410 L>V No ClinGen
TOPMed
CA191157546
rs980808649
411 H>R No ClinGen
TOPMed
CA5005718
rs748352339
412 S>C No ClinGen
ExAC
gnomAD
CA191157545
rs201017447
412 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs779149697
CA5005717
415 N>Y No ClinGen
ExAC
gnomAD
rs767771641
CA5005716
416 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA373107205
rs1346134565
417 E>G No ClinGen
TOPMed
CA5005715
rs749280704
420 D>E No ClinGen
ExAC
gnomAD
CA373107180
rs1262896985
421 E>K No ClinGen
gnomAD
CA373107172
rs1456112453
422 V>M No ClinGen
TOPMed
gnomAD
CA5005714
rs780198336
423 E>K No ClinGen
ExAC
gnomAD
CA5005712
rs751039580
424 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA5005713
rs751039580
424 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs767971526
CA5005711
425 N>D No ClinGen
ExAC
gnomAD
rs757736040
CA191157543
425 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs752002324
CA5005709
426 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs752002324
CA373107146
426 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs764932860
CA5005708
427 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA5005706
rs752191912
429 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA373107120
rs1259426947
430 E>K No ClinGen
gnomAD
CA373107109
rs1587156709
431 M>R No ClinGen
Ensembl
CA373107100
rs1434196112
432 E>A No ClinGen
TOPMed
CA5005704
rs760512393
434 P>L No ClinGen
ExAC
gnomAD
CA373107077
rs1164139417
436 N>D No ClinGen
gnomAD
CA5005702
rs771825260
437 R>G No ClinGen
ExAC
gnomAD
CA373107060
rs1429377375
438 G>E No ClinGen
TOPMed
gnomAD
CA373107061
rs1192509878
438 G>R No ClinGen
gnomAD
rs1264092813
CA373107043
441 R>G No ClinGen
gnomAD
COSM177329
rs747900361
CA5005701
441 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144800484
CA191157541
443 R>C No ClinGen
ESP
gnomAD
rs768704569
CA5005699
443 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs768704569
CA5005700
443 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs149399304
CA5005698
444 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 448 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322354522
CA373106937
448 S>T No ClinGen
gnomAD
rs1206437758
CA373106923
449 D>G No ClinGen
TOPMed
CA373106911
rs1283729400
450 G>D No ClinGen
gnomAD
CA5005684
rs749971238
452 D>N No ClinGen
ExAC
gnomAD
rs767396590
CA5005683
452 D>V No ClinGen
ExAC
gnomAD
rs376592782
CA5005682
454 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373106841
rs1301112748
455 S>N No ClinGen
gnomAD
CA191157174
rs991166324
457 S>C No ClinGen
Ensembl
CA5005679
rs763073443
458 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs139818141
CA5005680
458 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5005677
rs769938543
460 S>A No ClinGen
ExAC
gnomAD
rs1405201055
CA373106783
460 S>L No ClinGen
gnomAD
CA5005675
rs781434004
461 P>L No ClinGen
ExAC
gnomAD
CA5005676
rs150640000
461 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1587152859
CA373106765
462 L>P No ClinGen
Ensembl
rs771493754
CA5005674
463 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA5005673
rs747580995
463 H>Q No ClinGen
ExAC
gnomAD
rs771493754
CA373106758
463 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs920527847
CA191157173
463 H>Y No ClinGen
TOPMed
rs758843588
CA5005671
465 E>K No ClinGen
ExAC
gnomAD
CA5005670
rs143836487
466 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1278676233
CA373106710
467 P>T No ClinGen
TOPMed
gnomAD
rs1239707217
CA373106699
468 P>A No ClinGen
TOPMed
gnomAD
rs1239707217
CA373106696
468 P>S No ClinGen
TOPMed
gnomAD
CA5005669
rs779719219
469 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA373106687
rs779719219
469 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5005667
rs749879055
473 T>S No ClinGen
ExAC
gnomAD
CA373106601
rs1407202157
475 N>S No ClinGen
gnomAD
rs1280714656
CA373106592
476 N>H No ClinGen
TOPMed
CA191156452
rs915810544
478 I>M No ClinGen
Ensembl
rs750143311
CA5005648
479 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5005646
rs756811279
480 E>G No ClinGen
ExAC
gnomAD
rs1241144818
CA373106415
482 K>Q No ClinGen
gnomAD
CA5005645
rs751061523
483 S>N No ClinGen
ExAC
rs376115257
CA5005644
485 I>V No ClinGen
ESP
ExAC
gnomAD
CA5005643
rs758281912
488 S>R No ClinGen
ExAC
CA5005641
rs765186482
489 K>I No ClinGen
ExAC
gnomAD
rs752469458
CA5005642
489 K>Q No ClinGen
ExAC
gnomAD
CA191156451
rs765186482
489 K>R No ClinGen
ExAC
gnomAD
rs1294098643
CA373106343
492 K>T No ClinGen
gnomAD
rs138253823
CA5005640
493 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs974103698
CA191156449
497 G>D No ClinGen
gnomAD
TCGA novel 497 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5005621
rs752630438
502 A>T No ClinGen
ExAC
CA191156314
rs1022051921
513 R>S No ClinGen
TOPMed
CA373106147
rs1485726689
518 R>K No ClinGen
TOPMed
CA191156312
rs1014510263
520 R>T No ClinGen
Ensembl
rs766662073
CA5005617
521 H>R No ClinGen
ExAC
rs773279192
CA5005615
522 I>V No ClinGen
ExAC
gnomAD
CA373106075
rs1380847578
527 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA373106042
rs566185777
531 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA5005582
rs749308677
538 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 547 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753150565
CA191155303
549 S>L No ClinGen
Ensembl
CA5005580
rs532732959
552 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781232849
CA5005578
556 R>H No ClinGen
ExAC
gnomAD
CA191155302
rs922468945
557 K>R No ClinGen
TOPMed
rs112053518
CA191155301
558 L>P No ClinGen
Ensembl
CA373105821
rs1290448903
564 T>A No ClinGen
TOPMed
gnomAD
CA5005576
rs751570252
565 S>C No ClinGen
ExAC
gnomAD
COSM1461694
CA5005574
rs764224947
567 T>P Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA191155300
rs200659348
568 S>Y No ClinGen
Ensembl

2 associated diseases with P42568

Without disease ID

1 regional properties for P42568

Type Name Position InterPro Accession
domain AF-9, ANC1 homology domain 503 - 563 IPR040930

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome
  • Colocalizes with acylated histone H3 (PubMed:25417107, PubMed:27105114)
  • Colocalizes with histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
NuA4 histone acetyltransferase complex A complex having histone acetylase activity on chromatin, as well as ATPase, DNA helicase and structural DNA binding activities. The complex is thought to be involved in double-strand DNA break repair. Subunits of the human complex include HTATIP/TIP60, TRRAP, RUVBL1, BUVBL2, beta-actin and BAF53/ACTL6A. In yeast, the complex has 13 subunits, including the catalytic subunit Esa1 (homologous to human Tip60).
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.
super elongation complex A transcription elongation factor complex that increases the overall rate of RNA polymerase II transcription elongation by suppressing transient polymerase pausing. At minimum, the complex contains a transcription factor of the ELL family, an EAF protein, and an AFF family protein or distant relative and most likely also P-TEFb and AF9 or ENL. The complex is conserved from yeast to humans. In Schizosaccharomyces pombe it contains Ell1, Eaf1, and Ebp1, but it is absent from S. cerevisiae.
transcription elongation factor complex Any protein complex that interacts with RNA polymerase II to increase (positive transcription elongation factor) or reduce (negative transcription elongation factor) the rate of transcription elongation.

6 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 Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
lysine-acetylated histone binding Binding to a histone in which a lysine residue has been modified by acetylation.
modification-dependent protein binding Binding to a protein upon post-translation modification of the target protein.
molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

12 GO annotations of biological process

Name Definition
anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
gene expression The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
hematopoietic stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
histone acetylation The modification of a histone by the addition of an acetyl group.
negative regulation of canonical Wnt signaling pathway Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of Wnt signaling pathway, planar cell polarity pathway Any process that activates or increases the frequency, rate or extent of Wnt signaling pathway, planar cell polarity pathway.
regulation of chromatin organization Any process that modulates the frequency, rate or extent of chromatin organization.
regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
segment specification The process in which segments assume individual identities; exemplified in insects by the actions of the products of the homeotic genes.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P35189 TAF14 Transcription initiation factor TFIID subunit 14 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
A2AM29 Mllt3 Protein AF-9 Mus musculus (Mouse) PR
10 20 30 40 50 60
MASSCAVQVK LELGHRAQVR KKPTVEGFTH DWMVFVRGPE HSNIQHFVEK VVFHLHESFP
70 80 90 100 110 120
RPKRVCKDPP YKVEESGYAG FILPIEVYFK NKEEPRKVRF DYDLFLHLEG HPPVNHLRCE
130 140 150 160 170 180
KLTFNNPTED FRRKLLKAGG DPNRSIHTSS SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS
190 200 210 220 230 240
SSSSSSSSSS TSFSKPHKLM KEHKEKPSKD SREHKSAFKE PSRDHNKSSK ESSKKPKENK
250 260 270 280 290 300
PLKEEKIVPK MAFKEPKPMS KEPKPDSNLL TITSGQDKKA PSKRPPISDS EELSAKKRKK
310 320 330 340 350 360
SSSEALFKSF SSAPPLILTC SADKKQIKDK SHVKMGKVKI ESETSEKKKS TLPPFDDIVD
370 380 390 400 410 420
PNDSDVEENI SSKSDSEQPS PASSSSSSSS SFTPSQTRQQ GPLRSIMKDL HSDDNEEESD
430 440 450 460 470 480
EVEDNDNDSE MERPVNRGGS RSRRVSLSDG SDSESSSASS PLHHEPPPPL LKTNNNQILE
490 500 510 520 530 540
VKSPIKQSKS DKQIKNGECD KAYLDELVEL HRRLMTLRER HILQQIVNLI EETGHFHITN
550 560
TTFDFDLCSL DKTTVRKLQS YLETSGTS