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

32 structures for Q7Z7C8

Entry ID Method Resolution Chain Position Source
4WV4 X-ray 191 A B 25-120 PDB
4WV6 X-ray 175 A B/C 297-310 PDB
5FUR EM 850 A L 1-310 PDB
6MZC EM 450 A K 1-310 PDB
6MZL EM 2300 A K 1-310 PDB
6MZM EM 750 A K 1-310 PDB
7EDX EM 450 A H 1-310 PDB
7EG7 EM 620 A H 1-310 PDB
7EG8 EM 740 A H 1-310 PDB
7EG9 EM 370 A H 1-310 PDB
7EGA EM 410 A H 1-310 PDB
7EGB EM 330 A H 1-310 PDB
7EGC EM 390 A H 1-310 PDB
7EGD EM 675 A H 1-310 PDB
7EGE EM 900 A H 1-310 PDB
7EGG EM 277 A H 1-310 PDB
7EGH EM 304 A H 1-310 PDB
7EGI EM 982 A H 1-310 PDB
7EGJ EM 864 A H 1-310 PDB
7ENA EM 407 A DH 1-310 PDB
7ENC EM 413 A DH 1-310 PDB
8GXQ EM 504 A DH 1-310 PDB
8GXS EM 416 A DH 1-310 PDB
8WAK EM 547 A H 1-310 PDB
8WAL EM 852 A H 1-310 PDB
8WAN EM 607 A H 1-310 PDB
8WAO EM 640 A H 1-310 PDB
8WAP EM 585 A H 1-310 PDB
8WAQ EM 629 A H 1-310 PDB
8WAR EM 720 A H 1-310 PDB
8WAS EM 613 A H 1-310 PDB
AF-Q7Z7C8-F1 Predicted AlphaFoldDB

301 variants for Q7Z7C8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA3804493
rs751006594
2 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA3804494
rs757004180
3 D>G No ClinGen
ExAC
gnomAD
CA364087416
rs1178107080
3 D>N No ClinGen
Ensembl
rs573020143
CA138128506
4 A>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs1050521943
CA138128503
4 A>P No ClinGen
TOPMed
gnomAD
rs1050521943
CA364087481
4 A>T No ClinGen
TOPMed
gnomAD
CA364087494
rs573020143
4 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA138128507
rs555280249
5 A>T No ClinGen
1000Genomes
TOPMed
CA364087532
rs1286689998
5 A>V No ClinGen
TOPMed
gnomAD
CA364087537
rs1287003435
6 A>T No ClinGen
TOPMed
rs1435531116
CA364087550
6 A>V No ClinGen
gnomAD
rs768929303
CA3804497
7 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA138128514
rs1005039057
7 T>I No ClinGen
TOPMed
gnomAD
rs748678333
CA3804499
8 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA3804498
rs779286517
8 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779286517
CA364087620
8 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA364087681
rs773491807
10 A>S No ClinGen
ExAC
TOPMed
CA3804501
rs773491807
10 A>T No ClinGen
ExAC
TOPMed
rs183028083
CA3804502
10 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA138128534
rs1015767224
11 G>C No ClinGen
TOPMed
gnomAD
rs1015767224
CA364087696
11 G>S No ClinGen
TOPMed
gnomAD
rs868161378
CA364087762
13 S>F No ClinGen
TOPMed
gnomAD
rs759765030
CA3804505
13 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA138128555
rs868161378
13 S>Y No ClinGen
TOPMed
gnomAD
CA364087786
rs1160970521
14 G>E No ClinGen
gnomAD
CA364087765
rs1457483099
CA364087769
14 G>R No ClinGen
gnomAD
CA3804507
rs752435360
15 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA364087815
rs752435360
15 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs755786579
CA3804536
17 S>L No ClinGen
ExAC
gnomAD
CA3804538
rs531214257
18 G>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3804539
rs758806468
18 G>A No ClinGen
ExAC
gnomAD
rs531214257
CA364089438
18 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1028796330
CA138129020
19 S>R No ClinGen
Ensembl
CA3804541
rs373530647
21 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3804540
rs551322668
21 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1226732787
CA364089544
22 S>C No ClinGen
gnomAD
rs1226732787
CA364089545
22 S>F No ClinGen
gnomAD
CA3804542
rs757728659
22 S>P No ClinGen
ExAC
CA3804544
rs745958022
23 T>I No ClinGen
ExAC
rs781140275
CA3804543
23 T>P No ClinGen
ExAC
CA3804547
rs74710424
24 N>T No ClinGen
ExAC
gnomAD
CA3804548
rs768457784
25 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 25 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364089678
rs1229927241
26 A>T No ClinGen
gnomAD
rs1310581657
CA364089704
27 D>N No ClinGen
TOPMed
CA364089715
rs1441355382
28 N>D No ClinGen
gnomAD
TCGA novel 29 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs956006606
CA138129062
29 Y>C No ClinGen
TOPMed
gnomAD
CA364089771
rs1463375464
30 H>Y No ClinGen
TOPMed
gnomAD
rs915130570
CA138129068
31 L>R No ClinGen
TOPMed
gnomAD
CA364089843
rs767483326
33 R>L No ClinGen
ExAC
gnomAD
CA3804553
rs767483326
33 R>Q No ClinGen
ExAC
gnomAD
rs772654780
CA3804554
34 R>K No ClinGen
ExAC
gnomAD
TCGA novel 37 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1413992813
CA364089927
37 L>Q No ClinGen
gnomAD
CA3804555
rs760208849
38 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3804557
rs753576013
39 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA3804559
rs764568765
40 V>G No ClinGen
ExAC
gnomAD
rs1452480418
CA364090061
41 V>E No ClinGen
Ensembl
rs376399735
CA3804561
41 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1273593268
CA364090093
43 S>P No ClinGen
gnomAD
CA3804562
rs781717709
44 L>V No ClinGen
ExAC
gnomAD
rs1554170019
CA3804564
47 E>V No ClinGen
Ensembl
rs1562007337
CA364090265
48 A>V No ClinGen
Ensembl
CA364090304
rs1326700344
49 G>A No ClinGen
gnomAD
rs756213236
CA3804567
49 G>R No ClinGen
ExAC
gnomAD
CA364090310
rs1582208388
50 F>V No ClinGen
Ensembl
rs780055411
CA3804568
52 S>I No ClinGen
ExAC
gnomAD
CA364090385
rs1582208405
52 S>R No ClinGen
Ensembl
CA3804570
rs749522287
53 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA364090418
rs1248371235
53 A>S No ClinGen
gnomAD
CA3804569
rs749522287
53 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA138129184
rs942821006
54 E>K No ClinGen
gnomAD
CA364090453
rs942821006
54 E>Q No ClinGen
gnomAD
rs1431674783
CA364090511
56 A>V No ClinGen
gnomAD
CA3804573
rs747961595
57 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs771952250
CA3804574
59 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs771952250
CA138129205
59 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs370822634
CA3804575
60 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs999781686
CA138129213
60 T>M No ClinGen
gnomAD
rs1436547498
CA364090601
61 L>P No ClinGen
gnomAD
rs770589974
CA3804577
61 L>V No ClinGen
ExAC
gnomAD
rs374257808
CA3804578
63 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 63 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364090657
rs1348124652
64 M>L No ClinGen
gnomAD
CA364090659
rs1348124652
64 M>V No ClinGen
gnomAD
CA364090706
rs764979779
66 Q>* No ClinGen
ExAC
gnomAD
rs764979779
CA3804580
66 Q>E No ClinGen
ExAC
gnomAD
rs1457103305
CA364092429
68 Y>C No ClinGen
TOPMed
CA3804603
rs750684997
69 I>F No ClinGen
ExAC
gnomAD
CA364092454
rs750684997
69 I>L No ClinGen
ExAC
gnomAD
rs761234284
CA3804604
71 E>D No ClinGen
ExAC
gnomAD
rs919633649
CA138131129
71 E>K No ClinGen
TOPMed
CA364092602
rs1160984516
72 I>M No ClinGen
TOPMed
CA364092609
CA364092604
rs1473339290
73 G>R No ClinGen
gnomAD
rs1376582656
CA364092634
74 R>G No ClinGen
TOPMed
rs749824663
CA138131137
75 S>N No ClinGen
gnomAD
CA3804605
rs766856727
76 A>G No ClinGen
ExAC
gnomAD
rs1041925804
CA138131142
76 A>T No ClinGen
Ensembl
CA364092719
rs766856727
76 A>V No ClinGen
ExAC
gnomAD
rs755019294
CA364092740
77 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 77 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3804607
rs755019294
77 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA138131164
rs1050049842
77 K>R No ClinGen
TOPMed
gnomAD
CA3804610
rs758493295
80 C>G No ClinGen
ExAC
gnomAD
CA364092814
rs758493295
80 C>R No ClinGen
ExAC
gnomAD
rs1341430106
CA364092877
82 H>Y No ClinGen
gnomAD
rs1246371188
CA364092932
83 T>I No ClinGen
TOPMed
rs777630505
CA3804611
84 A>T No ClinGen
ExAC
gnomAD
CA138131178
rs928658205
85 R>G No ClinGen
TOPMed
rs1341590714
CA364092985
85 R>S No ClinGen
gnomAD
CA364092964
rs928658205
85 R>W No ClinGen
TOPMed
rs1198889856
CA364093004
86 T>I No ClinGen
TOPMed
gnomAD
rs757324476
CA3804613
87 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA3804615
rs745415464
90 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA364093096
rs1185876672
90 L>V No ClinGen
gnomAD
CA364093149
rs1374232301
92 D>A No ClinGen
gnomAD
rs368588507
CA3804617
92 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3804619
rs547928279
94 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364093263
rs1318340299
97 L>P No ClinGen
gnomAD
CA364093261
rs1318340299
97 L>R No ClinGen
gnomAD
rs1454357869
CA364093255
97 L>V No ClinGen
gnomAD
rs536405539
CA3804621
98 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs536405539
CA3804622
98 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364093285
rs1170298007
99 E>K No ClinGen
TOPMed
rs1313353543
CA364093339
100 M>I No ClinGen
gnomAD
rs777153742
CA3804623
100 M>T No ClinGen
ExAC
gnomAD
rs1582216245
CA364093479
101 G>D No ClinGen
Ensembl
CA364093508
rs1262993724
103 N>K No ClinGen
TOPMed
gnomAD
rs760094311
CA3804641
103 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA138131390
rs957816690
104 V>M No ClinGen
TOPMed
rs765658996
CA3804642
105 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA3804643
rs765658996
105 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA364093522
rs1441419714
105 D>N No ClinGen
TOPMed
CA364093555
rs1281658518
107 L>F No ClinGen
TOPMed
gnomAD
CA364093574
rs762921654
108 P>L No ClinGen
ExAC
gnomAD
rs762921654
CA3804646
108 P>R No ClinGen
ExAC
gnomAD
rs758273833
CA364093630
110 Y>* No ClinGen
TOPMed
gnomAD
CA364093602
rs1419442628
110 Y>N No ClinGen
gnomAD
TCGA novel 111 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3804648
rs751865496
111 A>T No ClinGen
ExAC
gnomAD
CA364093697
rs1294055355
113 R>W No ClinGen
gnomAD
rs750235942
CA3804653
117 M>V No ClinGen
ExAC
gnomAD
rs752200321
CA3804678
122 P>L No ClinGen
ExAC
gnomAD
rs779832016
CA3804655
122 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201356964
CA138132152
123 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201356964
CA3804679
123 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201356964
CA364095596
123 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA3804681
rs746287434
124 V>G No ClinGen
ExAC
gnomAD
rs777384806
CA3804680
124 V>L No ClinGen
ExAC
gnomAD
rs1447537719
CA364095695
126 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs770090308
CA3804682
128 P>S No ClinGen
ExAC
gnomAD
CA3804683
rs780421286
130 T>N No ClinGen
ExAC
gnomAD
CA364095789
rs1582218473
130 T>P No ClinGen
Ensembl
CA3804686
rs774628411
132 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1469595508
CA364095954
133 A>V No ClinGen
gnomAD
rs1582218548
CA364096145
139 N>T No ClinGen
Ensembl
rs773336996
CA3804689
140 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs200166840
CA3804690
140 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1276039095
CA364096219
141 P>L No ClinGen
TOPMed
gnomAD
rs1276039095
CA364096217
141 P>R No ClinGen
TOPMed
gnomAD
CA3804693
rs766100611
142 H>P No ClinGen
ExAC
gnomAD
rs373004161
CA3804694
143 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374681523
CA3804695
144 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364096357
rs374681523
144 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364096390
rs1242701273
145 H>Y No ClinGen
TOPMed
gnomAD
CA364096474
rs1354705952
146 I>N No ClinGen
TOPMed
CA364096479
rs1354705952
146 I>T No ClinGen
TOPMed
rs1475776722
CA364096457
146 I>V No ClinGen
gnomAD
CA3804697
rs752255358
147 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA3804698
rs757874607
149 H>R No ClinGen
ExAC
gnomAD
rs200962020
CA3804699
150 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs968089454
CA138132253
151 P>A No ClinGen
TOPMed
gnomAD
CA3804700
rs201385171
151 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs968089454
CA138132256
151 P>S No ClinGen
TOPMed
gnomAD
CA364096695
rs1408689099
152 E>G No ClinGen
gnomAD
CA3804702
rs369886097
155 D>G No ClinGen
ESP
ExAC
gnomAD
CA364096917
rs1178701501
159 Y>F No ClinGen
TOPMed
rs1432262852
CA364096908
159 Y>H No ClinGen
TOPMed
gnomAD
rs746487321 164 T>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA364101153
rs1371060055
164 T>A No ClinGen
TOPMed
TCGA novel 166 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1030879586
CA138142226
167 E>D No ClinGen
TOPMed
rs765700807
CA3804740
168 P>L No ClinGen
ExAC
gnomAD
CA364101311
rs1445712107
169 V>A No ClinGen
TOPMed
gnomAD
CA3804744
rs374915188
169 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3804743
COSM1228454
rs374915188
169 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1185996759
CA364101341
170 S>L No ClinGen
gnomAD
rs1165602006
CA364101367
171 D>G No ClinGen
TOPMed
rs1418630138
CA364101424
173 Q>* No ClinGen
TOPMed
rs371265065
CA3804750
176 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371265065
CA3804749
176 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3804748
rs769940264
176 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs376100000
CA3804751
177 E>V No ClinGen
ESP
ExAC
gnomAD
CA364101662
rs1295333904
180 A>T No ClinGen
gnomAD
CA3804753
rs201089461
181 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA138142280
rs766136389
182 Q>* No ClinGen
gnomAD
rs372388576
CA3804755
183 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760462541
CA3804756
184 R>C No ClinGen
ExAC
gnomAD
CA138142292
rs968814710
COSM1079299
184 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs368068958
CA3804758
185 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364101884
rs1185898798
186 V>M No ClinGen
gnomAD
CA138142300
rs532594187
187 E>K No ClinGen
Ensembl
CA3804759
rs371516491
188 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364101959
rs1374321126
188 R>Q No ClinGen
TOPMed
gnomAD
rs371516491
CA364101956
188 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs928204960
CA138142310
189 A>T No ClinGen
Ensembl
rs752136318
CA3804762
191 T>A No ClinGen
ExAC
rs1406471536
CA364102089
191 T>S No ClinGen
gnomAD
rs770137667
CA138142329
192 R>C No ClinGen
TOPMed
CA3804763
rs374759131
192 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368068359
CA138142347
194 M>T No ClinGen
Ensembl
rs781258446
CA3804764
194 M>V No ClinGen
ExAC
gnomAD
rs1474866388
CA364102301
197 T>I No ClinGen
TOPMed
gnomAD
CA3804766
rs756372584
199 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs544595066
CA3804765
199 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3804768
rs780235922
202 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA364102562
rs1282895022
203 L>F No ClinGen
gnomAD
CA138142357
rs368936827
203 L>P No ClinGen
ESP
TOPMed
gnomAD
rs1435317109
CA364102721
206 D>G No ClinGen
TOPMed
TCGA novel 206 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364102795
rs1206275063
208 V>A No ClinGen
gnomAD
CA3804771
rs778507860
208 V>I No ClinGen
ExAC
gnomAD
CA3804772
rs748131198
209 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs886522375
CA138142384
210 T>A No ClinGen
TOPMed
gnomAD
rs1367999240
CA364104177
214 I>V No ClinGen
TOPMed
rs748725698
CA138143608
216 A>P No ClinGen
TOPMed
gnomAD
rs748725698
CA364104266
216 A>S No ClinGen
TOPMed
gnomAD
CA138143613
rs934472680
217 R>G No ClinGen
TOPMed
CA364104381
rs1357988637
220 T>A No ClinGen
gnomAD
rs1291816869
CA364104449
222 P>H No ClinGen
gnomAD
CA364104477
rs1360975312
223 Y>C No ClinGen
TOPMed
gnomAD
rs1360975312
CA364104480
223 Y>F No ClinGen
TOPMed
gnomAD
rs745545223
CA3804797
225 T>S No ClinGen
ExAC
gnomAD
rs1188943239
CA364104526
226 A>T No ClinGen
TOPMed
CA138143633
rs749869589
227 L>R No ClinGen
Ensembl
rs746056203 228 L>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA3804800
rs769313819
229 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769313819
CA364104586
229 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3804799
rs769313819
229 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 230 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3804802
rs767823791
230 S>P No ClinGen
ExAC
gnomAD
CA3804803
rs773742959
231 E>Q No ClinGen
ExAC
gnomAD
rs761105655
CA3804804
232 L>R No ClinGen
ExAC
gnomAD
TCGA novel 233 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766461968
CA3804805
233 E>Q No ClinGen
ExAC
gnomAD
rs1168596606
CA364104681
234 M>I No ClinGen
gnomAD
CA364104735
rs1262290916
236 Q>E No ClinGen
TOPMed
rs753850736
CA3804807
237 M>R No ClinGen
ExAC
gnomAD
rs753850736
CA3804806
237 M>T No ClinGen
ExAC
gnomAD
CA3804808
rs765346730
242 S>C No ClinGen
ExAC
gnomAD
rs752586050
CA3804809
243 S>L Variant assessed as Somatic; 4.677e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA364105046
rs1452461216
246 D>N No ClinGen
gnomAD
CA138143677
rs983766535
247 E>* No ClinGen
Ensembl
rs1316365787
CA364105213
251 T>A No ClinGen
TOPMed
gnomAD
rs1384344244
CA364105319
254 L>F No ClinGen
gnomAD
CA138143679
rs1044000808
255 A>V No ClinGen
TOPMed
gnomAD
rs777669969
CA3804812
257 H>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 257 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777669969
CA3804811
257 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1197007290
COSM334713
CA364105450
259 S>G lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA364105461
rs1383199019
259 S>N No ClinGen
TOPMed
rs1290965710
CA364105510
260 M>I No ClinGen
TOPMed
rs747344270
CA3804843
262 D>H No ClinGen
ExAC
gnomAD
CA364110609
rs1438320300
263 S>F No ClinGen
gnomAD
CA3804844
rs189994370
264 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760047297
CA364110669
266 E>* No ClinGen
ExAC
gnomAD
CA3804847
rs760047297
266 E>K No ClinGen
ExAC
gnomAD
rs760047297
CA364110667
266 E>Q No ClinGen
ExAC
gnomAD
CA3804849
rs769766503
270 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs769766503
CA364110804
270 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA364110934
rs1318715318
274 Q>* No ClinGen
gnomAD
TCGA novel 274 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364111021
rs1582248429
276 N>T No ClinGen
Ensembl
rs936629996
CA138147326
277 P>T No ClinGen
Ensembl
CA3804852
rs200995490
278 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1245665601
CA364111078
278 S>Y No ClinGen
gnomAD
COSM1193755
rs372180909
CA3804853
280 S>L lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs767307596
CA3804855
282 S>G No ClinGen
ExAC
gnomAD
CA3804856
rs376494787
282 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs878886811
CA138147337
283 R>Q No ClinGen
Ensembl
rs1291669682
CA364111159
284 N>D No ClinGen
TOPMed
rs1243138301
CA364111178
285 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3804861
rs546610742
289 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3804863
rs778515780
291 D>N No ClinGen
ExAC
gnomAD
rs1402184812
CA364111301
293 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 293 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364111318
rs1370764402
294 Y>C No ClinGen
TOPMed
CA138147370
rs966434982
296 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1335967843
CA364111345
296 R>W No ClinGen
gnomAD
rs781551114
CA3804866
297 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 297 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364111374
rs1324766329
298 V>M No ClinGen
TOPMed
gnomAD
rs1418685539
CA364111446
303 I>S No ClinGen
TOPMed
CA3804869
rs775777569
304 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3804870
rs749343718
304 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA364111470
rs1263034193
305 R>K No ClinGen
gnomAD
CA3804871
rs769046111
306 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA364111560
rs1356664701
309 L>F No ClinGen
gnomAD
CA3804892
rs561846227
310 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1265730693
CA364111581
311 S>R No ClinGen
gnomAD

No associated diseases with Q7Z7C8

2 regional properties for Q7Z7C8

Type Name Position InterPro Accession
domain Bromodomain associated domain 29 - 106 IPR006565
domain Transcription factor TFIID, subunit 8, C-terminal 144 - 197 IPR019473

Functions

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

4 GO annotations of cellular component

Name Definition
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.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
transcription factor TFIID complex A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters.

2 GO annotations of molecular function

Name Definition
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
RNA polymerase II general transcription initiation factor activity A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.

10 GO annotations of biological process

Name Definition
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
DNA-templated transcription open complex formation Any process involved in the melting of the DNA hybrid of the core promoter region within the transcriptional closed complex of an RNA polymerase preinitiation complex (PIC) to produce an open complex where the DNA duplex around the transcription initiation site is unwound to form the transcription bubble.
inner cell mass cell proliferation The proliferation of cells in the inner cell mass.
maintenance of protein location in nucleus Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus.
mRNA transcription by RNA polymerase II The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter.
positive regulation of transcription initiation by RNA polymerase II Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation.
RNA polymerase II preinitiation complex assembly The aggregation, arrangement and bonding together of proteins on an RNA polymerase II promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription by RNA polymerase.
transcription initiation at RNA polymerase II promoter A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A7MAZ4 TAF8 Transcription initiation factor TFIID subunit 8 Bos taurus (Bovine) PR
Q5ZMS1 TAF8 Transcription initiation factor TFIID subunit 8 Gallus gallus (Chicken) PR
Q9EQH4 Taf8 Transcription initiation factor TFIID subunit 8 Mus musculus (Mouse) PR
Q28J24 taf8 Transcription initiation factor TFIID subunit 8 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P0T2 taf8 Transcription initiation factor TFIID subunit 8 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MADAAATAGA GGSGTRSGSK QSTNPADNYH LARRRTLQVV VSSLLTEAGF ESAEKASVET
70 80 90 100 110 120
LTEMLQSYIS EIGRSAKSYC EHTARTQPTL SDIVVTLVEM GFNVDTLPAY AKRSQRMVIT
130 140 150 160 170 180
APPVTNQPVT PKALTAGQNR PHPPHIPSHF PEFPDPHTYI KTPTYREPVS DYQVLREKAA
190 200 210 220 230 240
SQRRDVERAL TRFMAKTGET QSLFKDDVST FPLIAARPFT IPYLTALLPS ELEMQQMEET
250 260 270 280 290 300
DSSEQDEQTD TENLALHISM EDSGAEKENT SVLQQNPSLS GSRNGEENII DNPYLRPVKK
PKIRRKKSLS