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

2 structures for Q14142

Entry ID Method Resolution Chain Position Source
6JBM X-ray 210 A A/B/C/D 249-442 PDB
AF-Q14142-F1 Predicted AlphaFoldDB

370 variants for Q14142

Variant ID(s) Position Change Description Diseaes Association Provenance
rs778053648
CA5150880
5 A>E No ClinGen
ExAC
gnomAD
CA5150881
rs754174890
5 A>S No ClinGen
ExAC
gnomAD
CA5150877
rs767705083
6 T>S No ClinGen
ExAC
gnomAD
CA5150876
rs759576088
7 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751619874
CA5150875
8 S>T No ClinGen
ExAC
gnomAD
rs375310781
CA5150873
9 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375310781
CA5150874
9 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 11 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374197414
rs1423746868
13 R>K No ClinGen
gnomAD
rs372298132
CA5150872
14 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5150869
rs775328114
15 E>G No ClinGen
ExAC
gnomAD
rs368291230
CA5150870
15 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5150868
rs375930099
16 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA196768757
rs925879009
17 V>D No ClinGen
TOPMed
gnomAD
CA374197273
rs1258856156
19 G>E No ClinGen
gnomAD
TCGA novel 20 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374197231
rs1316047001
22 W>* No ClinGen
gnomAD
CA5150866
rs778435213
22 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs771353576
CA5150865
23 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA374197216
rs771353576
23 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs749728288
CA5150864
23 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs749728288
CA374197211
23 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs771353576
CA374197217
23 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5150860
rs781424936
25 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5150861
rs781424936
25 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA374197175
rs1463594388
26 E>G No ClinGen
gnomAD
rs751606156
CA5150858
29 D>E No ClinGen
ExAC
gnomAD
rs766418352
CA374197128
30 R>C No ClinGen
ExAC
gnomAD
rs766418352
CA5150857
30 R>G No ClinGen
ExAC
gnomAD
CA5150856
rs367703741
31 V>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs963726912
CA196768724
31 V>L No ClinGen
TOPMed
gnomAD
CA374197122
rs963726912
31 V>M No ClinGen
TOPMed
gnomAD
CA374197111
rs1197176518
32 A>S No ClinGen
gnomAD
rs1239003372
CA374197088
34 L>F No ClinGen
gnomAD
rs1291070654
CA374197076
35 F>L No ClinGen
TOPMed
rs911013094
CA196768714
37 R>G No ClinGen
TOPMed
gnomAD
CA196768711
rs562095803
38 R>L No ClinGen
1000Genomes
CA374197026
rs1456502143
39 C>* No ClinGen
gnomAD
CA5150853
rs374436760
40 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5150852
rs760583179
41 R>C No ClinGen
ExAC
gnomAD
rs1587983868
CA374197008
41 R>L No ClinGen
Ensembl
CA5150849
rs759168247
43 V>E No ClinGen
ExAC
gnomAD
rs771643597
CA5150850
43 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs771643597
CA374196994
43 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1311017219
CA374196980
44 C>* No ClinGen
TOPMed
gnomAD
rs773737813
CA5150848
44 C>R No ClinGen
ExAC
gnomAD
CA5150847
rs770540635
45 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA196768674
rs981028811
46 L>F No ClinGen
gnomAD
CA196768664
rs748775309
47 C>F No ClinGen
ExAC
gnomAD
CA5150846
rs748775309
47 C>S No ClinGen
ExAC
gnomAD
rs1404947074
CA374196935
48 P>L No ClinGen
gnomAD
CA374196941
rs1404947074
48 P>Q No ClinGen
gnomAD
rs1404947074
CA374196940
48 P>R No ClinGen
gnomAD
rs1444918039
CA374196902
51 G>D No ClinGen
TOPMed
rs1434497994
CA374196874
54 R>G No ClinGen
TOPMed
gnomAD
rs1409759150
CA374196865
55 G>R No ClinGen
TOPMed
rs778293010
CA5150845
56 H>Y No ClinGen
ExAC
gnomAD
rs770247267
CA5150844
57 P>S No ClinGen
ExAC
gnomAD
rs969036184
CA196768648
59 G>S No ClinGen
gnomAD
rs1232421515
CA374196808
60 L>R No ClinGen
gnomAD
CA374196802
rs542320588
61 A>E No ClinGen
1000Genomes
ExAC
gnomAD
CA5150843
rs542320588
61 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs573252148
CA5150842
62 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1354164352
CA374196764
65 A>E No ClinGen
gnomAD
rs559348391
CA196768636
65 A>T No ClinGen
1000Genomes
CA374196753
rs1345922586
66 V>L No ClinGen
gnomAD
rs1322951485
CA374196740
67 H>Y No ClinGen
gnomAD
rs868598210
CA196768614
68 V>L No ClinGen
gnomAD
CA374196725
rs868598210
68 V>M No ClinGen
gnomAD
CA5150823
rs769126916
72 S>N No ClinGen
ExAC
gnomAD
CA374195276
rs769126916
72 S>T No ClinGen
ExAC
gnomAD
rs747318410
CA5150822
73 Q>K No ClinGen
ExAC
gnomAD
rs1233448359
CA374195266
73 Q>P No ClinGen
gnomAD
CA196766602
rs1008253225
74 E>Q No ClinGen
TOPMed
gnomAD
TCGA novel
CA374195239
rs1275768006
75 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA374195221
rs1365250174
76 L>* No ClinGen
Ensembl
rs1260529008
CA374195201
78 Q>R No ClinGen
TOPMed
rs1438922616
CA374195175
82 K>E No ClinGen
gnomAD
CA374195154
rs1325372116
84 Q>H No ClinGen
gnomAD
rs758650880
CA5150819
85 Q>E No ClinGen
ExAC
gnomAD
CA5150818
rs745965352
86 H>L No ClinGen
ExAC
gnomAD
CA5150817
rs779075403
87 I>F No ClinGen
ExAC
gnomAD
CA5150816
rs539114208
87 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1364576435
CA374194819
89 N>D No ClinGen
Ensembl
CA196766596
rs767478252
90 I>M No ClinGen
Ensembl
CA5150815
rs752745546
93 I>R No ClinGen
ExAC
gnomAD
rs754776714
CA5150811
98 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5150812
rs754776714
98 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374210753
rs1174631634
105 E>G No ClinGen
TOPMed
rs772634382
CA5150783
107 S>N No ClinGen
ExAC
gnomAD
rs1213994851
CA374210708
111 L>R No ClinGen
gnomAD
TCGA novel 113 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 115 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249448168
CA374210673
116 T>S No ClinGen
gnomAD
CA196782660
rs954595898
118 L>F No ClinGen
gnomAD
TCGA novel 118 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206405698
CA374210657
119 R>G No ClinGen
gnomAD
rs913857379
CA196782654
120 L>* No ClinGen
Ensembl
CA5150775
rs746983430
124 E>* Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374210626
rs746983430
124 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374210600
rs760502317
127 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs760502317
CA5150774
127 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs760502317
CA5150773
127 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1257322623
COSM1103097
CA374210581
130 K>N endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1587959468
CA374210566
132 F>L No ClinGen
Ensembl
CA5150771
rs778572754
133 I>V No ClinGen
ExAC
gnomAD
CA196782621
rs1037630548
134 D>E No ClinGen
TOPMed
rs753405523
CA5150769
137 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374210533
rs1259192180
137 T>S No ClinGen
gnomAD
CA5150766
rs147144578
138 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374210514
rs1264715109
140 T>I No ClinGen
TOPMed
rs199641111
CA196782520
145 R>S No ClinGen
TOPMed
gnomAD
CA5150765
rs768116851
146 E>K No ClinGen
ExAC
gnomAD
rs1298640776
CA374210467
147 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766636819
CA5150762
149 D>E No ClinGen
ExAC
gnomAD
rs760019112
CA5150764
149 D>N No ClinGen
ExAC
CA5150763
rs774806522
149 D>V No ClinGen
ExAC
gnomAD
rs763017879
CA5150761
150 S>A No ClinGen
ExAC
gnomAD
rs773476916
CA5150760
150 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 151 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374210446
rs1351160679
151 C>R No ClinGen
gnomAD
CA5150759
rs769819667
155 L>F No ClinGen
ExAC
gnomAD
CA374210408
rs1474547420
156 D>A No ClinGen
gnomAD
CA374210392
rs1417772896
158 M>T No ClinGen
gnomAD
rs748233492
CA5150758
159 N>S No ClinGen
ExAC
CA374210374
rs1479016058
160 D>E No ClinGen
gnomAD
rs200179824
CA5150757
160 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1260026798
CA374210371
161 L>F No ClinGen
gnomAD
CA374210353
rs1204807985
164 R>G No ClinGen
gnomAD
CA374210351
rs1488911453
164 R>K No ClinGen
gnomAD
rs771953795
CA5150756
165 V>I No ClinGen
ExAC
gnomAD
rs745689594
CA5150755
167 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs778625917
CA5150754
168 I>V No ClinGen
ExAC
gnomAD
CA5150753
rs748963837
171 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1172392581
CA374210302
171 E>Q No ClinGen
gnomAD
rs375983980
CA5150751
172 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5150749
rs752225130
173 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 174 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1323391671
CA374210281
174 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA374210268
rs1373174267
176 Q>R No ClinGen
TOPMed
CA196778139
rs894847983
180 A>T No ClinGen
TOPMed
rs780781911
CA5150730
182 T>K No ClinGen
ExAC
gnomAD
rs780781911
CA374209681
182 T>M No ClinGen
ExAC
gnomAD
rs766884497
CA5150727
185 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA374209557
rs1564177774
188 M>I No ClinGen
Ensembl
rs750756229
CA5150725
190 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1191063270
CA374209491
191 Q>R No ClinGen
TOPMed
CA374209482
rs765395938
CA5150724
192 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs761969969
CA5150723
193 S>G No ClinGen
ExAC
gnomAD
rs753923320
CA5150722
193 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs760733321
CA5150720
195 G>E No ClinGen
ExAC
gnomAD
CA196778106
rs979915212
195 G>R No ClinGen
TOPMed
gnomAD
rs762688206
CA5150717
196 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA5150716
rs773012076
197 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA5150715
rs769574344
198 C>R No ClinGen
ExAC
gnomAD
CA5150713
COSM2793293
rs572131932
201 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1381151661
CA374209241
205 F>S No ClinGen
gnomAD
CA196778006
rs866443352
207 P>S No ClinGen
Ensembl
rs7467660
CA196777986
208 V>A No ClinGen
Ensembl
CA5150711
COSM1103095
rs149392923
208 V>I central_nervous_system endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773349976
CA196777982
211 F>L No ClinGen
TOPMed
gnomAD
rs1564177597
CA374209092
212 F>C No ClinGen
Ensembl
CA374209111
rs1322052308
212 F>L No ClinGen
TOPMed
rs750770823
CA374209029
216 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs750770823
COSM1240511
CA5150708
216 V>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1221659035
CA374208999
218 A>V No ClinGen
gnomAD
CA5150706
rs2296079
VAR_048399
219 V>M No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5150705
rs754120583
220 E>V No ClinGen
ExAC
gnomAD
CA374208950
rs1357888041
221 S>N No ClinGen
gnomAD
CA374208943
rs1261379853
222 T>A No ClinGen
TOPMed
CA5150704
rs114314984
225 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150211153
CA374208862
227 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1175379081
CA374208856
228 D>N No ClinGen
TOPMed
rs1399136845
CA374208838
229 I>T No ClinGen
gnomAD
rs138197499
CA5150701
230 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs551029194
CA5150700
230 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA374208835
rs138197499
230 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5150699
rs773018076
233 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA5150673
rs145652674
234 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376316638
CA5150672
235 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1162458530
CA374208094
237 C>F No ClinGen
TOPMed
rs1412708479
CA374208052
239 L>F No ClinGen
gnomAD
CA374207991
rs1374561162
242 P>S No ClinGen
gnomAD
rs1349137457
CA374207978
243 S>F No ClinGen
TOPMed
CA374207964
rs1342965777
245 T>P No ClinGen
gnomAD
rs778055619
CA5150669
246 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs756429394
CA5150668
247 P>Q No ClinGen
ExAC
gnomAD
CA5150667
rs748460318
248 G>C No ClinGen
ExAC
gnomAD
rs1327580940
CA374207929
248 G>D No ClinGen
TOPMed
CA5150666
rs373336252
254 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5150664
rs751550332
255 P>H No ClinGen
ExAC
gnomAD
CA5150665
rs751550332
255 P>L No ClinGen
ExAC
gnomAD
rs757198553
CA5150662
257 P>A No ClinGen
ExAC
gnomAD
CA374207837
rs1215154305
258 E>K No ClinGen
gnomAD
CA5150660
rs764051742
259 R>L No ClinGen
ExAC
gnomAD
CA374207817
rs764051742
259 R>Q No ClinGen
ExAC
gnomAD
CA196775361
rs953560026
261 L>I No ClinGen
TOPMed
CA374207262
rs1168931022
265 Y>C No ClinGen
gnomAD
CA374207263
rs1168931022
265 Y>S No ClinGen
gnomAD
rs946030318
CA196773028
266 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 267 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770159621
CA5150625
268 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1007130141
CA196773019
268 T>S No ClinGen
TOPMed
gnomAD
rs776800341
CA5150623
270 T>A No ClinGen
ExAC
gnomAD
rs977231855
CA196772987
270 T>K No ClinGen
TOPMed
gnomAD
CA374207134
rs1564173010
271 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs768922852
CA5150622
272 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1251217592
CA374207097
273 P>S No ClinGen
gnomAD
rs1479555456
CA374207077
274 D>A No ClinGen
gnomAD
CA5150620
rs780414118
275 T>M No ClinGen
ExAC
gnomAD
TCGA novel 275 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5150621
rs747298622
275 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374206993
rs1232936488
278 A>G No ClinGen
gnomAD
rs1300711756
CA374206997
278 A>S No ClinGen
gnomAD
CA374206986
rs1297313917
279 R>G No ClinGen
TOPMed
CA374206988
rs1297313917
279 R>S No ClinGen
TOPMed
CA374206945
rs567268646
281 R>H No ClinGen
1000Genomes
TOPMed
gnomAD
rs567268646
CA196772972
281 R>P No ClinGen
1000Genomes
TOPMed
gnomAD
CA374206933
rs1435635573
282 L>R No ClinGen
gnomAD
CA374206913
rs1171933288
284 A>T No ClinGen
gnomAD
CA196772965
rs952554786
286 R>S No ClinGen
TOPMed
CA374206844
rs1183957555
287 L>M No ClinGen
TOPMed
gnomAD
CA374206823
COSM3779469
rs752551468
288 T>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752551468
CA5150615
288 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA374206805
rs1211332935
289 V>A No ClinGen
gnomAD
rs1025549912
CA196772940
289 V>L No ClinGen
TOPMed
gnomAD
rs1277767019
CA374206792
290 R>P No ClinGen
gnomAD
CA5150613
rs754764863
291 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA5150611
rs765982913
292 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA196772908
rs371197846
292 G>D No ClinGen
Ensembl
rs765982913
CA196772928
292 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5150609
rs749885404
295 G>C No ClinGen
ExAC
gnomAD
CA5150607
rs527321964
297 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5150605
rs761229737
299 P>L No ClinGen
ExAC
gnomAD
rs777188169
CA5150606
299 P>S No ClinGen
ExAC
TOPMed
gnomAD
COSM129884
rs1385826950
CA374206689
300 V>M upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA196772865
rs1000371035
301 P>H No ClinGen
TOPMed
gnomAD
CA374206673
rs1000371035
301 P>R No ClinGen
TOPMed
gnomAD
rs761101028
CA5150603
301 P>S No ClinGen
ExAC
gnomAD
CA374206653
rs1442701463
303 L>P No ClinGen
TOPMed
gnomAD
TCGA novel 304 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA196772844
rs868459773
304 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs745969370
CA5150600
306 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs867934051
CA196772827
307 A>V No ClinGen
Ensembl
rs1268064876
CA374206573
310 Q>E No ClinGen
gnomAD
rs778800533
CA374206539
313 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs778800533
CA5150598
313 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1291796721
CA374206533
313 A>V No ClinGen
gnomAD
CA374206531
rs570888057
314 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA5150597
rs570888057
314 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA374206512
rs1327246560
315 D>E No ClinGen
TOPMed
gnomAD
CA196772816
rs552497291
316 C>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs552497291
CA374206504
316 C>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA374206490
rs1587942196
317 F>S No ClinGen
Ensembl
CA374206478
rs1292145636
318 A>P No ClinGen
TOPMed
rs75264230
CA5150595
319 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA196772801
rs894870446
319 T>N No ClinGen
TOPMed
gnomAD
rs894870446
CA374206469
319 T>S No ClinGen
TOPMed
gnomAD
rs1587942158
CA374206462
320 G>A No ClinGen
Ensembl
rs781165754
CA5150594
323 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA374206405
rs1415456428
324 W>* No ClinGen
gnomAD
rs754805853
CA5150593
326 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs746766293
CA5150592
328 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs746766293
CA374206357
328 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA196772784
rs867885667
330 E>* No ClinGen
Ensembl
rs1190504628
CA374206310
332 G>S No ClinGen
gnomAD
rs749950072
CA374206291
333 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs749950072
CA374206289
333 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA5150590
rs757984725
333 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs757984725
CA374206299
333 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs749950072
CA5150589
333 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1179848355
CA374206283
334 G>S No ClinGen
TOPMed
gnomAD
rs1288257126
CA374206250
336 W>L No ClinGen
gnomAD
rs1052442265
CA196772762
337 V>G No ClinGen
Ensembl
CA374206220
rs1228113658
338 G>D No ClinGen
gnomAD
CA374206195
rs1587942014
339 A>V No ClinGen
Ensembl
rs754354608
CA5150586
340 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1587941995
CA374206181
340 A>S No ClinGen
Ensembl
rs1041029069
CA196772755
342 A>G No ClinGen
TOPMed
rs764667150
CA5150585
342 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs761156214
CA5150584
343 S>C No ClinGen
ExAC
gnomAD
CA374206114
rs1364600627
344 L>F No ClinGen
gnomAD
CA196772746
rs773793794
344 L>R No ClinGen
Ensembl
rs543677793
CA5150583
345 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5150582
rs767865620
346 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759766028
CA5150581
349 A>S No ClinGen
ExAC
gnomAD
rs1165822710
CA374206015
350 S>L No ClinGen
TOPMed
gnomAD
rs868743224
CA196772719
353 A>D No ClinGen
Ensembl
rs770975476
CA5150579
353 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5150578
rs749355088
354 R>H No ClinGen
ExAC
gnomAD
rs1278598134
CA374205931
356 G>V No ClinGen
gnomAD
CA196772704
rs769099347
358 N>H No ClinGen
Ensembl
rs1246397297
CA374205905
358 N>S No ClinGen
TOPMed
CA5150573
rs758182900
359 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5150574
rs758182900
359 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745561512
CA5150572
359 R>P No ClinGen
ExAC
gnomAD
rs778608776
CA5150571
360 Q>* No ClinGen
ExAC
gnomAD
CA5150570
rs756759967
360 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1056382273
CA196772690
360 Q>R No ClinGen
Ensembl
CA374205845
rs1203383211
361 S>C No ClinGen
TOPMed
rs369293667
CA5150569
363 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374205795
rs1365508065
364 L>F No ClinGen
gnomAD
rs1292888744
CA374205787
365 K>E No ClinGen
gnomAD
CA374205748
rs1442782671
367 Y>H No ClinGen
TOPMed
gnomAD
CA374205722
rs1326593151
368 D>N No ClinGen
gnomAD
CA374205697
rs1428783025
369 L>F No ClinGen
TOPMed
gnomAD
CA374205685
rs1375683603
370 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374205627
rs756632629
372 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA5150567
rs756632629
372 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs918457484
CA196772673
374 F>S No ClinGen
TOPMed
gnomAD
rs753116492
CA5150566
375 H>N No ClinGen
ExAC
gnomAD
CA374205561
rs1191169346
376 D>N No ClinGen
gnomAD
CA374205526
rs768063658
379 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5150565
rs768063658
379 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA196772671
rs972569959
381 R>H No ClinGen
TOPMed
gnomAD
CA374205503
rs972569959
381 R>L No ClinGen
TOPMed
gnomAD
rs1224317237
CA374205487
383 R>Q No ClinGen
gnomAD
rs774476061
CA5150563
383 R>W No ClinGen
ExAC
gnomAD
rs1587941601
CA374205473
384 P>L No ClinGen
Ensembl
rs1355800803
CA374205454
387 D>N No ClinGen
TOPMed
gnomAD
rs1364788103
CA374205437
389 D>A No ClinGen
TOPMed
gnomAD
rs1364788103
CA374205436
389 D>G No ClinGen
TOPMed
gnomAD
rs1316810310
CA374205439
389 D>N No ClinGen
TOPMed
CA5150560
rs773217259
390 R>G No ClinGen
ExAC
gnomAD
CA5150559
rs768581016
390 R>P No ClinGen
ExAC
gnomAD
rs918607166
CA196772629
391 L>V No ClinGen
gnomAD
COSM4163152
rs775391711
CA5150557
392 G>R thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA5150556
rs771900809
393 V>A No ClinGen
ExAC
gnomAD
rs963150604
CA196772617
396 D>Y No ClinGen
TOPMed
CA5150555
rs372317510
398 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1255555000
CA374205359
399 A>T No ClinGen
gnomAD
CA374205345
rs1216598011
400 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5150554
rs369655193
401 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs990470173
CA196772611
401 V>I No ClinGen
TOPMed
gnomAD
rs990470173
CA374205338
401 V>L No ClinGen
TOPMed
gnomAD
CA374205305
rs1355900347
404 F>L No ClinGen
gnomAD
CA374205282
rs1393989077
405 Y>C No ClinGen
gnomAD
rs748765729
CA5150552
405 Y>H No ClinGen
ExAC
gnomAD
CA374205268
rs1377980051
406 D>V No ClinGen
gnomAD
rs1289016872
CA374205262
407 V>M No ClinGen
gnomAD
rs1385740517
CA374205224
410 G>C No ClinGen
TOPMed
gnomAD
CA374205228
rs1385740517
410 G>S No ClinGen
TOPMed
gnomAD
CA5150550
rs755682455
411 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374205214
rs1212145242
411 M>V No ClinGen
TOPMed
gnomAD
rs1457147294
CA374205179
412 S>R No ClinGen
gnomAD
rs1175446788
CA374205143
415 H>Y No ClinGen
TOPMed
CA374205123
rs1422365574
416 T>I No ClinGen
gnomAD
rs572521028
CA5150546
418 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs541518442
CA5150547
418 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA374205080
rs766523895
419 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA5150545
rs766523895
419 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA374205071
rs1282930816
419 A>V No ClinGen
gnomAD
CA374205067
rs1362723186
420 T>A No ClinGen
TOPMed
rs201617037
CA5150543
420 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201617037
CA5150544
420 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1335380279
CA374205041
422 Q>R No ClinGen
gnomAD
CA5150541
rs761855637
425 L>F No ClinGen
ExAC
gnomAD
CA374204990
rs1295874233
426 Y>C No ClinGen
gnomAD
CA374204988
rs1295874233
426 Y>F No ClinGen
gnomAD
CA5150539
rs772008221
427 P>L No ClinGen
ExAC
gnomAD
TCGA novel 428 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5150537
rs774141914
431 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA374204928
rs1456734404
433 E>V No ClinGen
gnomAD
CA5150534
rs770495045
434 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA5150531
rs777555750
436 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5150530
rs199858943
437 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1020373244
CA196772505
437 S>N No ClinGen
TOPMed
CA374204881
rs1207933405
439 P>H No ClinGen
gnomAD
rs1564171663
CA374204882
439 P>S No ClinGen
Ensembl
CA5150528
rs144459488
440 R>W No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q14142

10 regional properties for Q14142

Type Name Position InterPro Accession
domain B-box-type zinc finger 19 - 61 IPR000315
domain B30.2/SPRY domain 249 - 442 IPR001870
domain SPRY domain 319 - 442 IPR003877
domain Butyrophylin-like, SPRY domain 265 - 282 IPR003879-1
domain Butyrophylin-like, SPRY domain 304 - 328 IPR003879-2
domain Butyrophylin-like, SPRY domain 335 - 348 IPR003879-3
domain Butyrophylin-like, SPRY domain 382 - 406 IPR003879-4
domain Butyrophylin-like, SPRY domain 413 - 431 IPR003879-5
domain SPRY-associated 266 - 318 IPR006574
domain TRIM14, PRY/SPRY domain 269 - 441 IPR044116

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion outer membrane
  • Cytoplasmic vesicle, phagosome
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
phagocytic vesicle A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.

5 GO annotations of molecular function

Name Definition
protein homodimerization activity Binding to an identical protein to form a homodimer.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
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.
ubiquitin protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding Binding to a zinc ion (Zn).

11 GO annotations of biological process

Name Definition
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of viral transcription Any process that stops, prevents, or reduces the frequency, rate or extent of viral transcription.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
protein polyubiquitination Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.
regulation of viral entry into host cell Any process that modulates the frequency, rate or extent of the viral entry into the host cell.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H2S5 RNF39 RING finger protein 39 Homo sapiens (Human) PR
Q86UV7 TRIM73 Tripartite motif-containing protein 73 Homo sapiens (Human) PR
Q86XT4 TRIM50 E3 ubiquitin-protein ligase TRIM50 Homo sapiens (Human) PR
Q6ZMU5 TRIM72 Tripartite motif-containing protein 72 Homo sapiens (Human) PR
Q9UPQ4 TRIM35 E3 ubiquitin-protein ligase TRIM35 Homo sapiens (Human) PR
Q9BZY9 TRIM31 E3 ubiquitin-protein ligase TRIM31 Homo sapiens (Human) PR
Q9C029 TRIM7 E3 ubiquitin-protein ligase TRIM7 Homo sapiens (Human) PR
O15553 MEFV Pyrin Homo sapiens (Human) SS
A6NCK2 TRIM43B Tripartite motif-containing protein 43B Homo sapiens (Human) PR
Q8N9V2 TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 Homo sapiens (Human) PR
P19474 TRIM21 E3 ubiquitin-protein ligase TRIM21 Homo sapiens (Human) PR
A6NK02 TRIM75 Tripartite motif-containing protein 75 Homo sapiens (Human) PR
Q5EBN2 TRIM61 Putative tripartite motif-containing protein 61 Homo sapiens (Human) PR
10 20 30 40 50 60
MAGAATGSRT PGRSELVEGC GWRCPEHGDR VAELFCRRCR RCVCALCPVL GAHRGHPVGL
70 80 90 100 110 120
ALEAAVHVQK LSQECLKQLA IKKQQHIDNI TQIEDATEKL KANAESSKTW LKGKFTELRL
130 140 150 160 170 180
LLDEEEALAK KFIDKNTQLT LQVYREQADS CREQLDIMND LSNRVWSISQ EPDPVQRLQA
190 200 210 220 230 240
YTATEQEMQQ QMSLGELCHP VPLSFEPVKS FFKGLVEAVE STLQTPLDIR LKESINCQLS
250 260 270 280 290 300
DPSSTKPGTL LKTSPSPERS LLLKYARTPT LDPDTMHARL RLSADRLTVR CGLLGSLGPV
310 320 330 340 350 360
PVLRFDALWQ VLARDCFATG RHYWEVDVQE AGAGWWVGAA YASLRRRGAS AAARLGCNRQ
370 380 390 400 410 420
SWCLKRYDLE YWAFHDGQRS RLRPRDDLDR LGVFLDYEAG VLAFYDVTGG MSHLHTFRAT
430 440
FQEPLYPALR LWEGAISIPR LP