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 P80217

Entry ID Method Resolution Chain Position Source
AF-P80217-F1 Predicted AlphaFoldDB

283 variants for P80217

Variant ID(s) Position Change Description Diseaes Association Provenance
CA399677539
rs1405141914
2 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1310890731
CA399677544
3 A>D No ClinGen
gnomAD
CA399677541
rs1394033786
3 A>T No ClinGen
gnomAD
rs149119295
CA8589054
4 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589055
rs138234610
4 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399677556
rs1269604750
5 L>P No ClinGen
gnomAD
CA290832099
rs977580584
6 D>G No ClinGen
Ensembl
TCGA novel 7 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8589056
rs568883512
7 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589076
rs763054365
8 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1204230170
CA399677791
8 A>V No ClinGen
gnomAD
rs1490705365
CA399677802
10 H>R No ClinGen
gnomAD
rs149614000
CA290835389
11 A>T No ClinGen
ESP
rs867092661
CA290835411
12 L>I No ClinGen
Ensembl
CA290835416
rs899694270
13 Q>* No ClinGen
TOPMed
CA399677828
rs1431307668
14 E>K No ClinGen
gnomAD
CA399677831
rs1178978275
14 E>V No ClinGen
TOPMed
gnomAD
CA8589079
rs12948870
16 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148786311
CA8589080
18 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399677898
rs1158317108
20 K>T No ClinGen
gnomAD
CA290835453
rs770588017
21 M>K No ClinGen
Ensembl
CA290835457
rs866917158
23 L>M No ClinGen
Ensembl
rs1358815892
CA399677940
24 W>R No ClinGen
gnomAD
rs142458559
CA8589081
25 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367701448
CA8589083
27 Q>* No ClinGen
ESP
ExAC
gnomAD
CA290835500
rs867438277
29 L>M No ClinGen
gnomAD
rs1597779746
CA399678016
31 K>* No ClinGen
Ensembl
CA399678023
COSM1383491
rs748648651
CA8589084
31 K>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
NCI-TCGA
CA399678035
rs1361084601
32 E>D No ClinGen
gnomAD
CA8589085
rs758942957
32 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1222595930
CA399678046
33 L>P No ClinGen
TOPMed
gnomAD
CA399678049
rs777691679
CA8589088
34 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA8589089
rs747130156
35 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776914024
CA8589091
37 P>S No ClinGen
ExAC
gnomAD
CA399678089
rs1378702889
38 K>E No ClinGen
gnomAD
rs1263388351
CA399678713
44 S>P No ClinGen
gnomAD
rs1338270412
CA399678737
45 V>G No ClinGen
TOPMed
gnomAD
CA290836180
rs370391721
47 K>R No ClinGen
ESP
TOPMed
gnomAD
rs1191762352
CA399678816
51 V>A No ClinGen
TOPMed
rs1295751208
CA399678806
51 V>I No ClinGen
gnomAD
rs1295751208
CA399678810
51 V>L No ClinGen
gnomAD
CA8589116
rs768412142
53 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs780267427
CA290836189
53 R>Q No ClinGen
TOPMed
gnomAD
CA399678855
rs1485204949
54 G>E No ClinGen
TOPMed
rs1230369734
CA399678892
58 Q>K No ClinGen
TOPMed
rs774360258
CA8589117
59 D>G No ClinGen
ExAC
gnomAD
CA399678904
rs1461626278
59 D>N No ClinGen
TOPMed
gnomAD
rs200866570
CA8589118
60 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589119
rs771605420
60 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200866570
CA290836196
60 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1036850660
CA290836206
62 V>A No ClinGen
TOPMed
gnomAD
rs1308951342
CA399678951
63 P>R No ClinGen
TOPMed
rs760298021
CA399678965
64 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1597780479
CA399678961
64 K>R No ClinGen
Ensembl
CA8589122
rs368042561
66 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399679021
rs1597780493
69 N>S No ClinGen
Ensembl
TCGA novel 70 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8589124
rs763377602
71 R>Q No ClinGen
ExAC
gnomAD
CA8589123
rs139469566
71 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8589125
rs145061445
72 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399679066
rs1460713614
74 C>R No ClinGen
gnomAD
rs752091266
CA8589126
74 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1597780523
CA399679083
75 P>L No ClinGen
Ensembl
rs1567743709
CA399679090
76 L>P No ClinGen
Ensembl
CA399679110
rs141921308
78 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399679108
rs141921308
78 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589128
rs141921308
COSM269347
78 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA290836299
rs958627925
79 G>V No ClinGen
gnomAD
TCGA novel 80 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780428452
CA8589131
83 I>T No ClinGen
ExAC
gnomAD
rs1301866217
CA399679177
85 F>S No ClinGen
gnomAD
CA919844207
rs1567743696
85 F>S No ClinGen
Ensembl
rs749034220
CA8589132
87 D>N No ClinGen
ExAC
gnomAD
rs768485533
CA8589133
89 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1272982982
CA399679277
92 E>D No ClinGen
gnomAD
rs1375314395
CA399679279
93 Q>E No ClinGen
gnomAD
rs1287039281
CA399679283
93 Q>H No ClinGen
gnomAD
rs759166671
CA8589144
93 Q>P No ClinGen
ExAC
gnomAD
CA399679290
rs1597780656
94 V>G No ClinGen
Ensembl
TCGA novel 98 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs976936685
CA399679321
99 E>* No ClinGen
TOPMed
gnomAD
rs976936685
CA290836474
99 E>K No ClinGen
TOPMed
gnomAD
rs1294115089
CA399679324
99 E>V No ClinGen
gnomAD
rs1452229060
CA399679336
101 T>A No ClinGen
gnomAD
rs374815335
CA8589146
101 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8589145
COSM3691593
rs374815335
101 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399679335
rs1452229060
101 T>P No ClinGen
gnomAD
rs374815335
CA8589147
101 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8589149
rs750468739
102 I>N No ClinGen
ExAC
TCGA novel 103 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8589151
rs766627219
104 M>V No ClinGen
ExAC
gnomAD
CA399679361
rs1379305891
105 E>Q No ClinGen
gnomAD
rs1417549605
CA399679369
106 E>Q No ClinGen
gnomAD
CA8589152
rs754088504
107 C>R No ClinGen
ExAC
TOPMed
rs755193476
CA8589153
107 C>Y No ClinGen
ExAC
gnomAD
rs201830704
CA8589154
108 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589155
rs747914826
108 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8589156
rs747914826
108 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201830704
CA290836530
108 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589160
rs376682517
110 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1210256
rs746463710
CA8589159
110 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1597780749
CA399679396
111 V>G No ClinGen
Ensembl
CA399679403
rs1334338311
112 Q>H No ClinGen
TOPMed
CA8589161
rs745513010
112 Q>R No ClinGen
ExAC
gnomAD
rs1597780766
CA399679409
113 V>G No ClinGen
Ensembl
CA399679415
rs1317384276
114 Q>R No ClinGen
gnomAD
CA399679423
rs1357176258
115 P>T No ClinGen
gnomAD
rs1209264414
CA399679449
117 E>G No ClinGen
gnomAD
CA8589164
rs774738003
120 M>T No ClinGen
ExAC
gnomAD
rs769354659
CA8589163
120 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1223120119
CA399679489
121 V>D No ClinGen
TOPMed
gnomAD
rs762089420
CA8589165
121 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs1041538049
CA290836592
123 T>N No ClinGen
Ensembl
CA8589166
rs768083989
123 T>P No ClinGen
ExAC
gnomAD
rs1185092955
CA399679511
124 I>T No ClinGen
TOPMed
gnomAD
CA399679518
rs1333270839
125 Q>* No ClinGen
TOPMed
CA8589167
rs147582201
125 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1421326125
CA399679580
126 M>I No ClinGen
gnomAD
CA399679574
rs588703
CA399679572
126 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA290836855
rs904640323
126 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs588703
VAR_063758
VAR_082872
CA8589186
126 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs776729572
CA8589187
127 S>A No ClinGen
ExAC
gnomAD
rs759535040
CA8589188
128 S>N No ClinGen
ExAC
gnomAD
CA399679599
rs1401228109
128 S>R No ClinGen
gnomAD
CA8589189
rs765440953
129 Q>* No ClinGen
ExAC
gnomAD
CA8589190
rs752849055
129 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1002597752
CA290836866
132 G>R No ClinGen
Ensembl
rs763844158
CA8589192
COSM1210257
133 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8589191
rs149709197
133 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1597781007
CA399679647
134 R>G No ClinGen
Ensembl
CA399679650
rs1567744053
134 R>K No ClinGen
Ensembl
CA399679665
rs1278145763
135 V>G No ClinGen
gnomAD
CA8589195
rs757148523
136 L>S No ClinGen
ExAC
gnomAD
rs1344739643
CA399679681
137 V>F No ClinGen
gnomAD
CA399679684
rs1597781037
137 V>G No ClinGen
Ensembl
CA399679696
rs1567744079
138 T>I No ClinGen
Ensembl
rs1244782411
CA399679727
142 A>T No ClinGen
gnomAD
rs1198410498
CA399679749
144 L>F No ClinGen
gnomAD
CA8589196
rs780997177
144 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs749891046
CA8589197
145 R>S No ClinGen
ExAC
gnomAD
CA399679781
rs1567744105
147 S>R No ClinGen
Ensembl
CA290836935
rs1021825359
148 E>K No ClinGen
Ensembl
rs968901082
CA290836943
150 E>D No ClinGen
Ensembl
CA399679811
rs1192224414
150 E>Q No ClinGen
gnomAD
rs1260942379
CA399679814
150 E>V No ClinGen
gnomAD
rs779686162
CA399679832
152 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs779686162
CA8589200
152 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs377676655
CA8589202
153 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8589201
rs748921534
153 D>G No ClinGen
ExAC
gnomAD
rs747405142
CA8589204
156 E>D No ClinGen
ExAC
gnomAD
rs924751797
CA290836967
157 I>F No ClinGen
TOPMed
rs145567403
CA8589205
157 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769757979
CA399679882
CA8589208
158 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs777017425
CA8589206
158 F>L No ClinGen
ExAC
gnomAD
CA8589207
rs760145503
158 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8589209
rs369559189
159 F>L No ClinGen
ESP
ExAC
gnomAD
CA8589210
rs763115088
159 F>S No ClinGen
ExAC
gnomAD
rs909534000
CA290836999
160 G>S No ClinGen
TOPMed
gnomAD
CA290837003
rs961121303
162 T>P No ClinGen
TOPMed
CA399679920
rs1215435767
162 T>S No ClinGen
gnomAD
rs1283331467
CA399679935
163 R>S No ClinGen
TOPMed
gnomAD
rs202144105
CA8589213
165 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8589214
rs767407648
166 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1262704928
CA399679971
166 G>R No ClinGen
gnomAD
CA8589215
rs750326884
167 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs370544876
CA399680002
168 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145578882
CA399679994
168 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145578882
CA8589217
168 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399679991
rs145578882
168 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567744197
CA399680017
170 D>Y No ClinGen
Ensembl
COSM1254604
rs140488187
CA8589220
171 V>I oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8589222
rs369228705
172 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs150695787
RCV000950265
CA8589223
172 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8589221
rs369228705
172 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs770379286
CA8589225
174 L>P No ClinGen
ExAC
gnomAD
rs199510319
CA8589231
180 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768809782
CA8589230
180 M>T No ClinGen
ExAC
gnomAD
rs762166248
CA8589232
182 G>R No ClinGen
ExAC
gnomAD
rs564028702
CA8589233
184 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA8589235
rs374153933
187 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1457139369
CA399680287
187 G>R No ClinGen
gnomAD
CA8589236
rs141896991
188 V>M No ClinGen
ESP
ExAC
TOPMed
CA8589259
rs752302821
190 Q>* No ClinGen
ExAC
gnomAD
rs201614442
CA8589260
191 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8589261
COSM215690
rs146311145
191 R>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372379979
CA8589262
193 C>F No ClinGen
ESP
ExAC
gnomAD
rs780464597
CA8589264
194 Q>L No ClinGen
ExAC
gnomAD
rs755531972
CA8589266
196 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1160438703
CA399680468
197 Q>* No ClinGen
TOPMed
gnomAD
CA399680539
rs1195864462
201 P>L No ClinGen
gnomAD
rs1264537639
CA399680550
203 G>S No ClinGen
gnomAD
rs1192116527
CA399680570
204 G>E No ClinGen
gnomAD
rs1427762301
CA399680588
205 Q>H No ClinGen
gnomAD
rs748294501
CA8589268
206 Q>* No ClinGen
ExAC
gnomAD
rs748294501
CA399680593
206 Q>E No ClinGen
ExAC
gnomAD
rs1313075664
CA399680618
207 V>A No ClinGen
Ensembl
CA399680648
rs1597781492
210 R>G No ClinGen
Ensembl
rs550567872
CA8589271
210 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550567872
CA8589270
210 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1312606222
CA399680664
211 V>D No ClinGen
TOPMed
CA399680676
rs1305496854
212 S>F No ClinGen
TOPMed
CA8589272
rs200811245
213 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200811245
CA399680687
213 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8589275
rs769873611
214 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1013052001
CA290837370
215 V>M No ClinGen
Ensembl
rs13229
CA8589277
216 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1278204829
CA399680748
217 G>E No ClinGen
gnomAD
rs1218377147
CA399680743
217 G>R No ClinGen
gnomAD
CA8589278
rs763570551
218 E>K No ClinGen
ExAC
gnomAD
CA399680805
rs998516333
221 K>R No ClinGen
gnomAD
rs998516333
CA290837395
221 K>T No ClinGen
gnomAD
CA290837399
rs761497733
222 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs761497733
CA8589280
222 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs934065641
CA290837410
223 E>D No ClinGen
TOPMed
gnomAD
rs1444820347
CA399680903
224 I>M No ClinGen
TOPMed
rs764211735
CA8589306
226 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA8589305
rs764211735
226 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs764211735
CA399680921
226 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA399680932
rs1440979116
227 Q>R No ClinGen
TOPMed
CA8589308
rs781579279
228 P>Q No ClinGen
ExAC
gnomAD
rs1460552450
CA399680951
229 V>D No ClinGen
TOPMed
CA8589309
rs746151762
229 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA8589310
rs755969340
231 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs941550865
CA290837759
231 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs376408544
CA290837760
232 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376408544
CA8589311
232 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8589314
rs773873458
233 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1389937216
CA399680988
234 L>P No ClinGen
gnomAD
CA8589315
rs747665468
235 V>A No ClinGen
ExAC
gnomAD
CA8589317
rs143278077
236 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1342859075
CA399681047
238 I>T No ClinGen
gnomAD
CA399681056
rs765602573
239 P>L No ClinGen
ExAC
gnomAD
CA8589320
rs765602573
239 P>R No ClinGen
ExAC
gnomAD
rs376575632
CA399681066
240 D>A No ClinGen
ESP
gnomAD
rs376575632
CA290837788
240 D>G No ClinGen
ESP
gnomAD
CA290837799
rs376575632
240 D>V No ClinGen
ESP
gnomAD
rs1012015674
CA290837785
240 D>Y No ClinGen
TOPMed
gnomAD
CA399681093
rs1278845476
242 L>S No ClinGen
gnomAD
CA8589323
rs201486546
245 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8589322
rs763467879
245 P>S No ClinGen
ExAC
gnomAD
TCGA novel 246 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8589318
rs773024475
246 E>H No ClinGen
ExAC
gnomAD
CA399681170
rs1323246396
247 L>P No ClinGen
TOPMed
rs1478138073
CA399681187
248 H>R No ClinGen
TOPMed
gnomAD
CA399681215
rs751620948
CA8589325
249 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs140218345
CA8589326
250 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399681231
rs1467352458
251 L>P No ClinGen
gnomAD
CA8589327
rs767774874
253 I>V No ClinGen
ExAC
gnomAD
CA8589328
rs750642778
254 H>N No ClinGen
ExAC
gnomAD
CA399681363
rs756341282
260 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8589330
rs561841119
260 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756341282
CA8589329
260 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs749072575
CA8589335
261 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs754880852
CA8589336
262 G>D No ClinGen
ExAC
gnomAD
rs778732814
CA8589339
263 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA399681404
rs1235823515
264 E>* No ClinGen
gnomAD
CA8589340
rs748139594
265 V>A No ClinGen
ExAC
gnomAD
rs748139594
CA399681425
265 V>G No ClinGen
ExAC
gnomAD
rs1275089790
CA399681417
COSM1383494
265 V>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1048299
CA8589342
266 E>K No ClinGen
ExAC
gnomAD
rs746639337
CA8589343
267 A>T No ClinGen
ExAC
gnomAD
CA8589346
rs763230372
268 L>P No ClinGen
ExAC
gnomAD
rs775882822
CA399681460
268 L>V No ClinGen
ExAC
gnomAD
rs764579489
CA8589347
269 T>I No ClinGen
ExAC
gnomAD
rs764579489
CA8589348
269 T>R No ClinGen
ExAC
gnomAD
rs767684956
CA8589350
270 V>A No ClinGen
ExAC
gnomAD
CA8589349
rs762451969
270 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA399681475
rs762451969
270 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8589352
COSM3402918
rs375429330
271 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399681517
rs1288822870
273 Q>* No ClinGen
gnomAD
CA8589355
rs148626513
274 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399681568
rs1388896310
276 Q>E No ClinGen
gnomAD
CA399681574
rs142126580
276 Q>H No ClinGen
ESP
ExAC
TOPMed
rs1324704067
CA399681571
276 Q>R No ClinGen
gnomAD
CA8589357
rs752596965
277 G>D No ClinGen
ExAC
gnomAD
rs201858273
CA8589358
279 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201858273
CA399681611
279 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399681620
rs1310943236
280 V>L No ClinGen
gnomAD
rs1048323
CA290837970
283 S>F No ClinGen
Ensembl
rs1238715832
CA399681671
283 S>P No ClinGen
gnomAD
CA8589360
rs777215135
284 E>G No ClinGen
ExAC
gnomAD
rs1489461242
CA399681709
286 G>S No ClinGen
gnomAD
rs1313194825
CA399681731
287 G>W No ClinGen
TOPMed

No associated diseases with P80217

3 regional properties for P80217

Type Name Position InterPro Accession
domain Nmi/IFP 35 domain 81 - 170 IPR009909-1
domain Nmi/IFP 35 domain 180 - 267 IPR009909-2
domain Nmi/IFP 35 domain, N-terminal 9 - 80 IPR009938

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Secreted
  • Cytoplasmic IFI35 localizes in punctate granular structures (PubMed:10950963)
  • Nuclear localization increased is stimulated by IFN-alpha (PubMed:10950963, PubMed:8288566)
  • Extracelullar following secretion by macrophage (PubMed:29038465)
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.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

1 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.

8 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.
macrophage activation involved in immune response A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of NIK/NF-kappaB signaling Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.
positive regulation of NIK/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of toll-like receptor 4 signaling pathway Any process that activates or increases the frequency, rate, or extent of toll-like receptor 4 signaling pathway.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O35309 Nmi N-myc-interactor Mus musculus (Mouse) PR
10 20 30 40 50 60
MSAPLDAALH ALQEEQARLK MRLWDLQQLR KELGDSPKDK VPFSVPKIPL VFRGHTQQDP
70 80 90 100 110 120
EVPKSLVSNL RIHCPLLAGS ALITFDDPKV AEQVLQQKEH TINMEECRLR VQVQPLELPM
130 140 150 160 170 180
VTTIQMSSQL SGRRVLVTGF PASLRLSEEE LLDKLEIFFG KTRNGGGDVD VRELLPGSVM
190 200 210 220 230 240
LGFARDGVAQ RLCQIGQFTV PLGGQQVPLR VSPYVNGEIQ KAEIRSQPVP RSVLVLNIPD
250 260 270 280
ILDGPELHDV LEIHFQKPTR GGGEVEALTV VPQGQQGLAV FTSESG