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 P10242

Entry ID Method Resolution Chain Position Source
AF-P10242-F1 Predicted AlphaFoldDB

374 variants for P10242

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1226644001
CA365732425
6 R>G No ClinGen
TOPMed
CA365732429
rs1358619520
6 R>Q No ClinGen
TOPMed
rs768018541
CA4011225
9 I>T No ClinGen
ExAC
TOPMed
CA4011224
rs759941238
9 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA148138546
rs112799998
11 S>G No ClinGen
Ensembl
rs967344622
CA148138563
12 S>C No ClinGen
TOPMed
rs1222801619
CA365733849
12 S>N No ClinGen
gnomAD
CA365733861
rs756361507
13 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4011229
rs753940197
14 E>G No ClinGen
ExAC
gnomAD
CA4011228
rs777923027
14 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 15 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs980292268
CA148138573
18 D>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1288365750
CA365733920
21 M>I No ClinGen
TOPMed
gnomAD
rs778787538
CA4011231
21 M>T No ClinGen
ExAC
gnomAD
rs745832879
CA4011232
24 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs771802758
CA4011233
24 H>R No ClinGen
ExAC
gnomAD
CA148138593
rs568057920
30 L>V No ClinGen
Ensembl
rs1426416522
CA365733995
32 K>R No ClinGen
gnomAD
CA4011235
rs746848743
34 G>R No ClinGen
ExAC
gnomAD
CA4011237
rs776200677
36 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA365734020
rs1451326893
36 R>H No ClinGen
gnomAD
CA365734027
rs761355498
37 H>P No ClinGen
ExAC
gnomAD
rs761355498
CA4011238
37 H>R No ClinGen
ExAC
gnomAD
CA365734059
rs1343042048
42 R>K No ClinGen
gnomAD
CA365734080
rs1403836963
45 R>W No ClinGen
gnomAD
CA4011261
rs772851313
49 E>Q No ClinGen
ExAC
gnomAD
rs762617064
CA4011262
50 K>R No ClinGen
ExAC
gnomAD
rs772692025
CA4011263
52 K>R No ClinGen
ExAC
rs149280002
CA4011264
53 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1276513639
CA365734164
56 E>K No ClinGen
TOPMed
CA4011265
rs761065191
57 Q>E No ClinGen
ExAC
gnomAD
rs1182150969
CA365734184
58 N>S No ClinGen
gnomAD
TCGA novel 60 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1385070053
CA365734203
61 D>G No ClinGen
gnomAD
rs1460905406
CA365734199
61 D>N No ClinGen
gnomAD
CA365734207
COSM1544890
rs1443630742
COSM1544891
62 D>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 63 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011266
rs764394253
65 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA365734244
rs1346403712
67 A>T No ClinGen
gnomAD
rs1437060412
CA365734254
68 N>S No ClinGen
TOPMed
TCGA novel 70 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011268
rs762033472
71 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762033472
CA365734274
71 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776861167
CA4011267
71 P>S No ClinGen
ExAC
gnomAD
CA365734291
rs1391099064
72 N>T No ClinGen
gnomAD
rs1302072057
CA365734300
73 R>L No ClinGen
gnomAD
CA365734298
rs1302072057
73 R>Q No ClinGen
gnomAD
CA4011288
rs762224204
75 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA365734319
rs1249393095
76 V>G No ClinGen
gnomAD
rs866246271
CA148141612
78 C>Y No ClinGen
Ensembl
rs1222164414
CA365734336
79 Q>E No ClinGen
gnomAD
rs1294298826
CA365734349
80 H>Q No ClinGen
TOPMed
TCGA novel 81 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011289
rs765423956
82 W>* No ClinGen
ExAC
gnomAD
CA365734373
rs1246761830
84 K>E No ClinGen
TOPMed
TCGA novel 85 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 85 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365734444
rs1231582413
94 P>R No ClinGen
gnomAD
TCGA novel 97 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs918848380
CA148141618
102 R>K No ClinGen
TOPMed
gnomAD
CA4011312
rs763178718
105 E>A No ClinGen
ExAC
gnomAD
TCGA novel 110 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365734568
rs1433475831
110 Y>H No ClinGen
gnomAD
rs1361650612
CA365734575
111 G>S No ClinGen
gnomAD
CA4011314
rs774287821
114 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs752717882
CA4011317
117 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1562368330
CA365734616
117 V>F No ClinGen
Ensembl
rs758450259
CA148141854
118 I>V No ClinGen
Ensembl
TCGA novel 123 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1408745338
CA365735122
153 R>T No ClinGen
gnomAD
CA365735193
rs1316378738
158 A>E No ClinGen
TOPMed
gnomAD
CA365735190
rs1316774942
158 A>T No ClinGen
gnomAD
CA4011328
rs778119027
170 A>S No ClinGen
ExAC
gnomAD
COSM168375
CA365735358
COSM168374
rs778119027
170 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4011329
rs749730179
176 R>* No ClinGen
ExAC
gnomAD
CA365735416
rs1583273308
176 R>Q No ClinGen
Ensembl
TCGA novel 179 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365735478
rs1179275735
183 N>S No ClinGen
gnomAD
CA365735525
rs1340781737
189 M>I No ClinGen
TOPMed
CA365735537
COSM3430031
rs1335964521
COSM3430032
191 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA365735540
rs1444007668
192 K>E No ClinGen
gnomAD
rs1380159781
CA365735556
194 E>A No ClinGen
TOPMed
rs1342064644
CA365735559
194 E>D No ClinGen
TOPMed
TCGA novel 194 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1223989139
CA365735592
199 L>V No ClinGen
gnomAD
CA365735601
rs1264962110
200 Q>L No ClinGen
gnomAD
rs1583283788
CA365735614
202 S>A No ClinGen
Ensembl
CA365735632
rs1321068669
205 A>T No ClinGen
gnomAD
CA4011348
rs143011739
209 A>G No ClinGen
ESP
ExAC
TOPMed
CA365735660
rs1298243557
209 A>T No ClinGen
TOPMed
CA148143633
rs776218526
210 V>A No ClinGen
Ensembl
CA365735674
rs1363192481
211 A>G No ClinGen
TOPMed
CA365735681
rs1583283899
212 T>I No ClinGen
Ensembl
rs746123937
CA4011350
213 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 213 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365735706
rs1458870370
216 K>E No ClinGen
TOPMed
CA148143670
rs950607758
216 K>R No ClinGen
TOPMed
gnomAD
CA365735777
rs1562371015
225 Q>H No ClinGen
Ensembl
rs775714562
CA4011352
225 Q>R No ClinGen
ExAC
gnomAD
rs374588074
CA4011353
226 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4011354
rs768694674
226 A>V No ClinGen
ExAC
gnomAD
CA4011356
rs146156073
227 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs539769963
CA148143798
230 A>P No ClinGen
1000Genomes
gnomAD
CA4011358
rs772687021
231 Q>H No ClinGen
ExAC
CA148143818
rs1023586066
232 L>F No ClinGen
Ensembl
rs762675122
CA4011359
232 L>P No ClinGen
ExAC
gnomAD
rs766089394
CA4011360
234 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs766089394
CA365735826
234 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA365735833
rs1343552963
236 G>S No ClinGen
gnomAD
rs754529781
CA365735859
240 V>F No ClinGen
ExAC
gnomAD
CA4011362
rs754529781
240 V>I No ClinGen
ExAC
gnomAD
CA148143856
rs963252355
243 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA365735890
rs974068084
244 Y>C No ClinGen
TOPMed
gnomAD
CA148143885
rs974068084
244 Y>S No ClinGen
TOPMed
gnomAD
CA4011364
rs754396975
248 H>D No ClinGen
ExAC
gnomAD
rs1358636440
CA365735942
251 E>D No ClinGen
Ensembl
CA4011385
rs142284572
255 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4011386
rs758875916
258 H>R No ClinGen
ExAC
gnomAD
CA4011387
rs780385476
259 V>F No ClinGen
ExAC
gnomAD
CA365736055
rs780385476
259 V>I No ClinGen
ExAC
gnomAD
rs1583291126
CA365736079
261 Y>S No ClinGen
Ensembl
rs1477052128
CA365736111
264 A>T No ClinGen
TOPMed
TCGA novel 265 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365736143
rs1200844623
266 H>R No ClinGen
TOPMed
CA4011389
rs755051321
266 H>Y No ClinGen
ExAC
gnomAD
rs778761961
CA148145143
269 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs781340500
CA4011390
269 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1382802408
CA365736210
271 N>S No ClinGen
gnomAD
CA148145153
rs987578256
275 P>S No ClinGen
TOPMed
gnomAD
rs769759766
CA365736296
278 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs769759766
CA4011394
278 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs770741732
CA4011397
279 A>G No ClinGen
ExAC
gnomAD
rs749049169
CA4011396
279 A>T No ClinGen
ExAC
gnomAD
CA4011406
rs151255794
282 R>T No ClinGen
ESP
ExAC
gnomAD
CA365736754
rs1159185118
288 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 298 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 304 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755251168
CA4011408
305 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 306 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365736905
rs1334896911
310 K>E No ClinGen
gnomAD
CA4011411
rs756191927
314 V>M No ClinGen
ExAC
gnomAD
CA4011412
rs73774602
315 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs369681525
CA4011448
317 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365737090
rs1192209516
320 H>Y No ClinGen
TOPMed
CA365737121
rs1274003953
322 C>G No ClinGen
TOPMed
CA4011449
rs760807701
322 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4011450
rs764366080
324 Y>D No ClinGen
ExAC
gnomAD
CA4011451
rs753900884
325 P>H No ClinGen
ExAC
gnomAD
rs1162709348
CA365737176
325 P>S No ClinGen
gnomAD
rs750351406
COSM204589
CA4011454
COSM204588
326 G>R large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1157606106
CA365737222
327 W>C No ClinGen
gnomAD
CA4011455
rs758156067
329 S>N No ClinGen
ExAC
gnomAD
CA365737299
rs1438379621
332 I>V No ClinGen
TOPMed
COSM134149
rs373144674
COSM134148
CA4011458
334 D>N oesophagus skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
rs747633726
CA4011460
335 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375651983
CA4011459
335 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_050188
RCV000905518
rs2229999
CA4011461
336 T>I No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1283080621
CA365737364
336 T>S No ClinGen
gnomAD
CA4011464
rs772410551
337 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1410998536
CA365737412
339 H>L No ClinGen
TOPMed
rs775709886
CA4011465
339 H>Q No ClinGen
ExAC
gnomAD
rs1394961307
CA365737468
342 S>T No ClinGen
TOPMed
rs1172354835
CA365737518
345 V>A No ClinGen
TOPMed
rs267600823
CA4011466
346 S>F No ClinGen
ExAC
gnomAD
CA4011467
rs764278331
349 G>E No ClinGen
ExAC
gnomAD
rs776876145
CA4011468
350 E>G No ClinGen
ExAC
gnomAD
CA4011469
rs761839406
351 H>N No ClinGen
ExAC
gnomAD
rs765315652
CA4011470
351 H>Q No ClinGen
ExAC
gnomAD
rs750310093
CA4011471
353 S>Y No ClinGen
ExAC
gnomAD
CA365737588
rs1411902573
354 T>N No ClinGen
gnomAD
CA365737590
rs1411902573
354 T>S No ClinGen
gnomAD
CA4011472
rs758263932
355 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs972074114
CA148146834
356 S>P No ClinGen
TOPMed
gnomAD
rs1400595151
CA365737608
358 P>S No ClinGen
gnomAD
rs141379276
CA4011473
359 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA365737623
rs1562375725
360 D>E No ClinGen
Ensembl
rs780955537
CA4011476
362 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA365737640
rs1279471374
363 S>C No ClinGen
TOPMed
CA365737648
rs1222705214
365 P>A No ClinGen
gnomAD
CA365737670
rs1307163881
368 S>G No ClinGen
TOPMed
gnomAD
rs752423593
CA148146851
368 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs199722406
CA4011478
369 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs375429026
CA148146858
370 S>L No ClinGen
ESP
TOPMed
gnomAD
rs375429026
CA148146857
370 S>W No ClinGen
ESP
TOPMed
gnomAD
rs967109190
CA148146859
372 A>T No ClinGen
TOPMed
gnomAD
rs1272273723
CA365737702
373 R>S No ClinGen
gnomAD
rs776677290
CA148146874
375 M>I No ClinGen
Ensembl
rs772444343
CA4011481
376 I>F No ClinGen
ExAC
gnomAD
rs780660118
CA365737724
376 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs747304465
CA4011483
378 H>R No ClinGen
ExAC
gnomAD
rs769038941
CA4011484
380 G>D No ClinGen
ExAC
gnomAD
rs762027315
CA4011486
387 K>T No ClinGen
ExAC
gnomAD
rs1376219508
CA365737868
397 Q>H No ClinGen
gnomAD
rs145124572
CA4011487
398 F>C No ClinGen
ESP
ExAC
gnomAD
CA365737881
rs1215728054
399 I>T No ClinGen
gnomAD
rs1167673295
CA365739701
407 S>R No ClinGen
TOPMed
rs779846789
CA148149875
409 H>R No ClinGen
gnomAD
TCGA novel 410 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1391566299
CA365739734
411 N>D No ClinGen
TOPMed
CA4011604
rs771502816
412 S>P No ClinGen
ExAC
gnomAD
rs777137022
CA4011605
414 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4011606
rs762413226
415 E>D No ClinGen
ExAC
gnomAD
rs200639167
CA4011608
416 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4011607
rs765910984
416 M>V No ClinGen
ExAC
gnomAD
CA365739775
rs1264735984
417 P>S No ClinGen
TOPMed
rs1490671095
CA365739784
418 S>F No ClinGen
TOPMed
rs763451124
CA4011609
418 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 418 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200899383
CA148149965
421 S>C No ClinGen
TOPMed
rs2230000
CA365739807
422 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000879694
VAR_050189
rs2230000
CA4011610
422 T>N No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755029331
CA4011612
423 P>A No ClinGen
ExAC
gnomAD
CA4011613
rs377014519
423 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365739812
rs756037127
424 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4011617
rs749047464
424 L>H No ClinGen
ExAC
rs756037127
CA4011615
424 L>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 424 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756037127
CA4011616
424 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 425 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365739820
rs1250445633
425 I>S No ClinGen
Ensembl
CA365739819
rs1250445633
425 I>T No ClinGen
Ensembl
rs1346027915
CA365739832
427 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs745518375
CA4011620
430 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1203580616
CA365739866
432 T>K No ClinGen
TOPMed
gnomAD
rs1452740695
CA365739890
436 H>Y No ClinGen
gnomAD
rs143010463
CA4011624
438 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746567028
CA4011623
438 D>H No ClinGen
ExAC
gnomAD
CA365739915
rs1172634373
439 Q>H No ClinGen
gnomAD
rs1476805948
CA365739911
439 Q>K No ClinGen
gnomAD
CA365739918
rs1465270168
440 T>A No ClinGen
TOPMed
CA365739925
rs1431127651
441 V>L No ClinGen
TOPMed
gnomAD
CA365739924
rs1431127651
441 V>M No ClinGen
TOPMed
gnomAD
CA4011625
rs773888577
442 K>I No ClinGen
ExAC
TCGA novel 443 T>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011626
rs763362623
443 T>S No ClinGen
ExAC
gnomAD
rs1395649197
CA365739944
444 Q>P No ClinGen
gnomAD
rs773276636
CA148150115
445 K>Q No ClinGen
Ensembl
CA365739952
rs1325263166
445 K>R No ClinGen
gnomAD
rs763153391
CA148150128
449 V>A No ClinGen
Ensembl
CA365740017
rs1247579811
453 P>S No ClinGen
gnomAD
rs779796852
CA4011641
455 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA4011642
rs779796852
455 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs146755940
CA148150728
456 K>* No ClinGen
1000Genomes
rs768305061
CA4011643
458 S>A No ClinGen
ExAC
gnomAD
rs1465967713
CA365740057
459 I>M No ClinGen
TOPMed
gnomAD
CA365740055
rs1270493960
459 I>T No ClinGen
gnomAD
CA148150738
rs956364900
459 I>V No ClinGen
Ensembl
rs1203017096
CA365740061
460 L>S No ClinGen
TOPMed
gnomAD
rs1299620822
CA365740071
461 E>D No ClinGen
gnomAD
CA4011644
rs778369825
461 E>G No ClinGen
ExAC
gnomAD
rs1260349935
CA365740065
461 E>K No ClinGen
gnomAD
rs1415546608
CA365740092
465 R>G No ClinGen
gnomAD
rs749820799
CA4011645
465 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA365740109
rs1364246936
467 P>L No ClinGen
TOPMed
rs1369017132
CA365740106
467 P>S No ClinGen
TOPMed
gnomAD
rs771538068
CA4011646
468 T>A No ClinGen
ExAC
gnomAD
CA148150773
rs1042484593
472 H>R No ClinGen
TOPMed
CA4011650
rs775717051
473 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA4011653
rs756830286
482 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs55926915
CA4011654
483 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs55926915
CA365740211
483 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs765275871
CA4011655
484 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1236382279
CA365740224
485 K>R No ClinGen
TOPMed
gnomAD
CA148150868
rs900245440
486 M>L No ClinGen
TOPMed
gnomAD
rs997333176
CA148150871
486 M>R No ClinGen
TOPMed
gnomAD
rs900245440
CA365740229
486 M>V No ClinGen
TOPMed
gnomAD
rs1254857848
CA365740238
487 L>P No ClinGen
gnomAD
CA365740254
rs1176411413
488 P>S No ClinGen
TOPMed
gnomAD
rs765046065
CA4011674
489 Q>E No ClinGen
ExAC
gnomAD
CA365740275
rs750397896
491 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs750397896
CA4011675
491 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA365740286
rs766283026
493 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA4011677
rs766283026
493 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA4011678
rs751469115
495 V>I No ClinGen
ExAC
gnomAD
COSM739999
COSM740000
CA365740309
rs1294474255
497 D>Y lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1370196556
CA365740346
502 I>T No ClinGen
gnomAD
rs1251601513
CA365740378
506 S>F No ClinGen
TOPMed
CA4011681
rs73555746
508 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs113182184
CA4011682
COSM421070
COSM421069
510 G>E urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA365740472
rs1310577408
520 P>S No ClinGen
TOPMed
CA4011684
rs746403738
522 L>F No ClinGen
ExAC
gnomAD
TCGA novel 523 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365740507
rs1583328447
525 K>N No ClinGen
Ensembl
CA4011685
rs758697644
525 K>R No ClinGen
ExAC
gnomAD
rs1281291924
CA365740520
527 K>R No ClinGen
TOPMed
rs1562382372
CA365740526
528 Q>R No ClinGen
Ensembl
CA365740629
rs1328235941
530 V>A No ClinGen
gnomAD
rs371729193
CA4011731
531 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1442824017
CA365740637
531 E>D No ClinGen
TOPMed
TCGA novel 531 E>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011732
rs778940362
537 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1396319202
CA365740702
539 N>H No ClinGen
gnomAD
rs376614277
CA4011733
540 F>I No ClinGen
ESP
ExAC
TOPMed
rs771972764
CA4011734
540 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4011736
rs112653372
543 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4011735
rs775343566
543 S>P No ClinGen
ExAC
gnomAD
rs1326542787
CA365740780
544 H>D No ClinGen
TOPMed
gnomAD
rs1326542787
CA365740778
544 H>N No ClinGen
TOPMed
gnomAD
CA148152100
rs372904776
544 H>R No ClinGen
ESP
TOPMed
gnomAD
CA4011739
rs369628182
548 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 549 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011740
rs764731225
550 S>R No ClinGen
ExAC
gnomAD
CA4011741
rs750000035
550 S>R No ClinGen
ExAC
gnomAD
CA148152178
rs958553931
555 L>P No ClinGen
TOPMed
rs1272659280
CA365741005
556 F>L No ClinGen
gnomAD
COSM245839
CA4011744
rs374987126
COSM245840
557 T>M prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756463754
CA4011745
558 Q>R No ClinGen
ExAC
gnomAD
rs777999385
CA4011746
559 T>A No ClinGen
ExAC
CA365741047
rs777999385
559 T>P No ClinGen
ExAC
rs754130347
CA4011747
559 T>S No ClinGen
ExAC
gnomAD
rs550014418
CA4011748
560 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs991310044
CA148152226
562 V>M No ClinGen
TOPMed
rs989453196
CA148152259
563 A>P No ClinGen
TOPMed
gnomAD
CA148152286
rs1020865987
564 D>Y No ClinGen
Ensembl
rs746005763
CA4011750
565 A>V No ClinGen
ExAC
TCGA novel
CA365741163
rs1583339371
566 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA4011751
rs772026403
566 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1346556189
CA365742347
567 N>D No ClinGen
gnomAD
rs1305740100
CA365742413
570 T>K No ClinGen
gnomAD
rs568000053
CA4011790
573 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1583351716
CA365742483
575 M>T No ClinGen
Ensembl
CA365742495
rs1212057861
577 P>S No ClinGen
gnomAD
rs781145531
CA4011791
578 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1036156896
CA148153544
578 A>V No ClinGen
Ensembl
CA4011793
rs755921035
579 S>L No ClinGen
ExAC
gnomAD
rs370301077
CA148153578
579 S>T No ClinGen
gnomAD
CA4011794
rs777345988
580 E>A No ClinGen
ExAC
gnomAD
rs1257694278
CA365742507
580 E>K No ClinGen
TOPMed
gnomAD
CA365742521
rs777345988
580 E>V No ClinGen
ExAC
gnomAD
CA4011795
rs748900859
581 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1420481378
CA365742537
582 E>K No ClinGen
gnomAD
CA4011796
rs770687886
583 D>G No ClinGen
ExAC
gnomAD
CA365742555
rs1462656853
583 D>H No ClinGen
gnomAD
TCGA novel 585 V>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777310468
CA4011800
590 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4011799
rs769256842
590 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1180691311
CA365742676
591 V>A No ClinGen
TOPMed
TCGA novel 594 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365742715
rs1192007361
594 N>T No ClinGen
gnomAD
CA365742732
rs1399343498
595 R>T No ClinGen
gnomAD
rs114298899
CA4011805
598 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114298899
CA4011804
598 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA365742797
rs1317785370
600 P>L No ClinGen
gnomAD
rs1305713629
CA365743866
603 P>S No ClinGen
TOPMed
CA4011850
rs544172826
606 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377634719
CA4011851
606 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs561459986
CA4011854
610 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs561459986
CA4011855
610 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs978966227
CA148163535
612 S>P No ClinGen
Ensembl
rs1348916847
CA365743933
613 C>G No ClinGen
gnomAD
rs61753805
CA4011856
613 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776655417
CA4011857
614 G>E No ClinGen
ExAC
gnomAD
TCGA novel 614 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765085584
CA4011859
616 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA4011858
rs761459969
616 M>V No ClinGen
ExAC
gnomAD
rs750311598
CA4011860
617 E>K No ClinGen
ExAC
gnomAD
CA365743965
rs1422665014
618 E>K No ClinGen
gnomAD
TCGA novel 619 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA365743984
rs1462131123
620 M>T No ClinGen
gnomAD
CA365743995
rs1297117753
621 T>I No ClinGen
TOPMed
CA4011861
rs758101576
622 S>P No ClinGen
ExAC
gnomAD
rs148508251
CA4011862
623 S>C No ClinGen
ESP
ExAC
gnomAD
CA365744010
rs751072359
624 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA4011863
rs751072359
624 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA148163591
rs111414491
627 R>C No ClinGen
ESP
TOPMed
gnomAD
rs200859137
CA4011867
627 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4011866
rs200859137
627 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147282507
CA4011868
629 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA365744045
rs1353905178
630 V>M No ClinGen
gnomAD
CA365744071
rs1448598848
633 F>L No ClinGen
gnomAD
rs753515419
CA148163624
636 R>Q No ClinGen
TOPMed
gnomAD
COSM3941518
rs747043685
COSM3941519
COSM3941520
CA4011872
637 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 637 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4011874
rs776365497
638 L>V No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with P10242

8 regional properties for P10242

Type Name Position InterPro Accession
domain SANT/Myb domain 35 - 88 IPR001005-1
domain SANT/Myb domain 87 - 140 IPR001005-2
domain SANT/Myb domain 139 - 191 IPR001005-3
domain Transcription regulator Wos2-domain 268 - 313 IPR012642
domain C-myb, C-terminal 398 - 556 IPR015395
domain Myb domain 35 - 86 IPR017930-1
domain Myb domain 87 - 142 IPR017930-2
domain Myb domain 143 - 193 IPR017930-3

Functions

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

5 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.
nuclear matrix The dense fibrillar network lying on the inner side of the 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.
RNA polymerase II transcription regulator complex A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

3 GO annotations of molecular function

Name Definition
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.

15 GO annotations of biological process

Name Definition
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.
erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
myeloid cell development The process whose specific outcome is the progression of a myeloid cell over time, from its formation to the mature structure.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of hematopoietic progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation.
negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
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 histone H3-K4 methylation Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3.
positive regulation of histone H3-K9 methylation Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 9 of histone H3.
positive regulation of miRNA transcription Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription.
positive regulation of T-helper cell differentiation Any process that activates or increases the frequency, rate or extent of T-helper cell differentiation.
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 DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q4JL76 MYBAS2 Myb-related protein MYBAS2 Oryza sativa subsp japonica (Rice) PR
10 20 30 40 50 60
MARRPRHSIY SSDEDDEDFE MCDHDYDGLL PKSGKRHLGK TRWTREEDEK LKKLVEQNGT
70 80 90 100 110 120
DDWKVIANYL PNRTDVQCQH RWQKVLNPEL IKGPWTKEED QRVIELVQKY GPKRWSVIAK
130 140 150 160 170 180
HLKGRIGKQC RERWHNHLNP EVKKTSWTEE EDRIIYQAHK RLGNRWAEIA KLLPGRTDNA
190 200 210 220 230 240
IKNHWNSTMR RKVEQEGYLQ ESSKASQPAV ATSFQKNSHL MGFAQAPPTA QLPATGQPTV
250 260 270 280 290 300
NNDYSYYHIS EAQNVSSHVP YPVALHVNIV NVPQPAAAAI QRHYNDEDPE KEKRIKELEL
310 320 330 340 350 360
LLMSTENELK GQQVLPTQNH TCSYPGWHST TIADHTRPHG DSAPVSCLGE HHSTPSLPAD
370 380 390 400 410 420
PGSLPEESAS PARCMIVHQG TILDNVKNLL EFAETLQFID SFLNTSSNHE NSDLEMPSLT
430 440 450 460 470 480
STPLIGHKLT VTTPFHRDQT VKTQKENTVF RTPAIKRSIL ESSPRTPTPF KHALAAQEIK
490 500 510 520 530 540
YGPLKMLPQT PSHLVEDLQD VIKQESDESG IVAEFQENGP PLLKKIKQEV ESPTDKSGNF
550 560 570 580 590 600
FCSHHWEGDS LNTQLFTQTS PVADAPNILT SSVLMAPASE DEDNVLKAFT VPKNRSLASP
610 620 630
LQPCSSTWEP ASCGKMEEQM TSSSQARKYV NAFSARTLVM