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 Q8N5I9

Entry ID Method Resolution Chain Position Source
AF-Q8N5I9-F1 Predicted AlphaFoldDB

180 variants for Q8N5I9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs749580288 1 M>? Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs78938272
CA242596711
2 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs958676661
CA386352416
2 E>G No ClinGen
TOPMed
CA386352414
rs1179246349
2 E>K No ClinGen
gnomAD
CA242596704
rs958676661
2 E>V No ClinGen
TOPMed
rs1452414826
CA386352418
3 V>I No ClinGen
TOPMed
gnomAD
CA6757077
rs368545818
4 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771638970
CA386352427
4 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA6757078
rs771638970
4 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs368545818
CA386352424
4 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386352431
rs1225201049
5 G>D No ClinGen
gnomAD
CA6757081
rs12580271
5 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6757080
VAR_056833
rs12580271
5 G>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386352436
rs1308394065
6 K>E No ClinGen
TOPMed
CA242596734
CA386352440
rs776314525
6 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs374254858
CA6757084
7 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374254858
CA6757083
7 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215149969
CA386352442
7 P>S No ClinGen
gnomAD
rs1129593
CA386352446
8 K>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1129593
CA386352445
8 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6757086
rs1129593
VAR_060438
8 K>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA386352455
rs935241447
9 A>D No ClinGen
gnomAD
CA386352452
rs1368139956
9 A>S No ClinGen
TOPMed
gnomAD
CA242596764
rs935241447
9 A>V No ClinGen
gnomAD
CA6757089
rs371639910
10 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371639910
COSM3810843
CA6757088
10 S>N Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386352460
rs1193344182
10 S>R No ClinGen
gnomAD
CA6757087
rs371639910
10 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777900503
CA6757091
11 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA6757092
rs535539364
11 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA242596788
rs535539364
11 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386352462
rs777900503
11 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs777900503
CA6757090
11 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA386352481
rs1309858163
14 S>P No ClinGen
gnomAD
CA386352491
rs1346481293
15 S>L No ClinGen
gnomAD
CA6757094
rs746380021
16 P>L Variant assessed as Somatic; 4.72e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA386352492
rs1419889053
16 P>T No ClinGen
gnomAD
rs374997946
CA6757096
17 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386352497
rs1592746602
17 T>P No ClinGen
Ensembl
rs746561893
CA6757099
18 R>Q No ClinGen
ExAC
CA386352503
rs1372485617
18 R>W No ClinGen
gnomAD
rs117368247
CA6757102
19 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117368247
CA6757103
19 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6757104
rs201369478
19 D>V No ClinGen
1000Genomes
ExAC
rs1355986071
CA386352524
22 G>R No ClinGen
gnomAD
CA6757105
rs371351832
23 V>I No ClinGen
ESP
ExAC
gnomAD
CA386352529
rs371351832
23 V>L No ClinGen
ESP
ExAC
gnomAD
CA386352536
rs1345136814
24 P>A No ClinGen
TOPMed
CA6757107
rs766374958
27 K>N No ClinGen
ExAC
CA6757106
rs763003278
27 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA6757108
rs751516011
29 L>P No ClinGen
ExAC
gnomAD
rs1470032125
CA386352576
31 T>A No ClinGen
gnomAD
CA386352584
rs1366246266
32 A>V No ClinGen
TOPMed
rs764224128
CA6757110
34 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1410711100
CA386352615
37 R>G No ClinGen
TOPMed
CA6757111
rs754078464
37 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA386352617
rs754078464
37 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA386352894
rs1260434167
39 G>D No ClinGen
gnomAD
CA6757113
rs779264151
39 G>R No ClinGen
ExAC
gnomAD
CA386352897
rs553044327
40 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1240681412
CA386352900
40 I>T No ClinGen
gnomAD
rs553044327
CA6757129
40 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA386352909
rs765405252
41 W>* No ClinGen
ExAC
gnomAD
rs765405252
CA6757130
41 W>C No ClinGen
ExAC
gnomAD
rs1287594745
CA386352922
43 R>M No ClinGen
TOPMed
CA6757131
rs369869604
43 R>W No ClinGen
ESP
ExAC
TOPMed
CA386352937
rs1229862203
45 L>P No ClinGen
TOPMed
TCGA novel 46 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA386352940
rs1285075238
46 I>F No ClinGen
TOPMed
rs752012117
CA6757135
50 P>L No ClinGen
ExAC
gnomAD
rs752012117
CA6757134
50 P>R No ClinGen
ExAC
gnomAD
CA242598184
rs187213332
50 P>S No ClinGen
1000Genomes
gnomAD
CA386352987
rs1348793939
53 R>T No ClinGen
TOPMed
CA386352997
rs1400090256
54 K>N No ClinGen
TOPMed
gnomAD
CA6757138
rs755650170
57 T>I No ClinGen
ExAC
gnomAD
rs1398436956
CA386353036
61 V>I No ClinGen
gnomAD
rs748939881
CA386353042
62 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs770919118
CA6757141
62 R>Q No ClinGen
ExAC
gnomAD
rs748939881
CA6757140
62 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA242598236
rs201752109
COSM1729677
63 I>T liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
TOPMed
gnomAD
rs1347819210
CA386353052
64 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs745808467
CA6757143
65 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1283003969
CA386353069
65 R>T No ClinGen
gnomAD
rs374019637
CA386353104
67 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757145
rs776606163
67 P>L No ClinGen
ExAC
gnomAD
CA6757144
rs374019637
67 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1349109962
CA386353635
68 L>* No ClinGen
TOPMed
rs1160591371
CA386353651
70 D>E No ClinGen
gnomAD
rs756914491
CA6757161
70 D>V No ClinGen
ExAC
gnomAD
rs1424316795
CA386353657
71 Q>H No ClinGen
gnomAD
rs778597849
CA6757162
71 Q>P No ClinGen
ExAC
gnomAD
CA6757164
rs771733790
73 Q>R No ClinGen
ExAC
gnomAD
CA386353677
rs1241296847
74 T>I No ClinGen
TOPMed
CA6757165
rs373550337
76 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757166
rs746944094
78 Q>R No ClinGen
ExAC
gnomAD
rs773217138
CA6757168
79 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA6757167
rs769865983
79 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA6757170
rs565928398
81 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6757169
rs377566774
81 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757172
rs759991708
83 N>D No ClinGen
ExAC
gnomAD
CA6757174
rs145611751
83 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6757173
rs145611751
83 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA386353733
rs1565938719
84 E>A No ClinGen
Ensembl
rs761199161
CA6757175
84 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs373230527
CA242600414
85 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753351037
CA6757177
88 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA242600424
rs549921928
90 M>I No ClinGen
Ensembl
rs1467273417
CA386353776
90 M>T No ClinGen
gnomAD
CA386353780
rs1213146909
91 A>T No ClinGen
TOPMed
gnomAD
rs757002789
CA6757178
91 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA242600434
rs191930196
93 A>V No ClinGen
1000Genomes
gnomAD
CA6757179
rs778667970
95 P>L No ClinGen
ExAC
gnomAD
TCGA novel 95 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6757181
rs758280475
96 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs377084571
CA242600446
97 R>C No ClinGen
ESP
CA6757182
rs199516315
97 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 97 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6757183
rs200931216
103 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386353869
rs1347614516
105 G>W No ClinGen
TOPMed
CA6757184
rs768529525
106 P>L No ClinGen
ExAC
gnomAD
rs777858752
CA386353881
107 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs777858752
CA6757185
107 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749405652
CA6757186
109 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA6757187
rs368287596
110 V>G No ClinGen
ESP
ExAC
gnomAD
rs999687757
CA242600511
111 I>V No ClinGen
TOPMed
gnomAD
rs746117924
CA6757207
116 A>S No ClinGen
ExAC
gnomAD
rs1257882494
CA386354129
118 F>S No ClinGen
gnomAD
CA386354138
rs1490595824
119 E>A No ClinGen
TOPMed
CA386354143
rs1401833748
120 M>L No ClinGen
gnomAD
CA242602036
rs911291904
120 M>R No ClinGen
Ensembl
CA6757209
rs371748784
122 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776031032
CA6757210
122 Q>R No ClinGen
ExAC
gnomAD
CA6757211
rs747421151
123 S>L No ClinGen
ExAC
gnomAD
CA386354165
rs1479016857
123 S>P No ClinGen
gnomAD
CA386354167
rs747421151
123 S>W No ClinGen
ExAC
gnomAD
rs777336739
CA6757213
128 V>L No ClinGen
ExAC
gnomAD
rs777336739
CA386354198
128 V>M No ClinGen
ExAC
gnomAD
rs1592748896
CA386354204
129 D>H No ClinGen
Ensembl
CA6757215
rs764815193
130 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA386354212
rs764815193
130 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA386354223
rs1452519363
131 S>L No ClinGen
TOPMed
gnomAD
rs1295976440
CA386354226
132 E>K No ClinGen
gnomAD
CA386354253
rs1222938914
135 S>L No ClinGen
TOPMed
CA386354255
rs1362127730
136 Q>* No ClinGen
gnomAD
CA6757217
rs374710696
137 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1204234999
CA386354270
138 S>G No ClinGen
Ensembl
rs766056750
CA6757219
138 S>I No ClinGen
ExAC
gnomAD
CA6757218
rs766056750
138 S>T No ClinGen
ExAC
gnomAD
CA242602120
rs11554636
142 S>G No ClinGen
Ensembl
CA386354312
rs1285365196
144 E>* No ClinGen
TOPMed
CA6757220
rs367786401
144 E>V No ClinGen
ESP
ExAC
TOPMed
rs138936935
CA6757221
145 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1303453153
CA386354330
147 D>N No ClinGen
gnomAD
rs755952301
CA6757223
148 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs779076625
CA6757224
149 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs745896625
CA6757225
151 S>N No ClinGen
ExAC
gnomAD
CA386354368
rs1246541660
152 I>V No ClinGen
gnomAD
rs376760830
CA242602152
153 P>S No ClinGen
ESP
CA6757226
rs758473392
157 T>I No ClinGen
ExAC
gnomAD
CA6757228
rs747222960
158 I>T No ClinGen
ExAC
gnomAD
CA6757227
rs780475223
158 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs769146367
CA6757229
159 D>G No ClinGen
ExAC
gnomAD
rs1203090211
CA386354446
164 P>S No ClinGen
gnomAD
rs369460633
CA6757231
165 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386354459
rs1302246468
166 S>P No ClinGen
gnomAD
CA386354495
rs1430795723
171 G>D No ClinGen
TOPMed
rs202087919
CA6757233
175 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477281685
CA386354540
177 D>E No ClinGen
TOPMed
rs184257841
CA6757234
178 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA6757236
rs765859693
181 S>N No ClinGen
ExAC
rs377159683
CA6757239
182 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757240
rs759124890
184 K>* No ClinGen
ExAC
gnomAD
rs759124890
CA242602207
184 K>E No ClinGen
ExAC
gnomAD
rs777032057 184 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777032057 185 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA6757241
rs767316407
185 K>T No ClinGen
ExAC
rs369173579
CA242602213
186 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757242
rs369173579
186 K>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386354598
rs369173579
186 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6757243
rs756111844
186 K>Y No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q8N5I9

No regional properties for Q8N5I9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8N5I9

Functions

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

1 GO annotations of cellular component

Name Definition
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
box C/D snoRNP complex binding Binding to a box C/D snoRNP complex.

1 GO annotations of biological process

Name Definition
box C/D snoRNP assembly The aggregation, arrangement and bonding together of proteins and a box C/D snoRNA to form a box C/D small nucleolar ribonucleoprotein (snoRNP) complex.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEVHGKPKAS PSCSSPTRDS SGVPVSKELL TAGSDGRGGI WDRLLINSQP KSRKTSTLQT
70 80 90 100 110 120
VRIERSPLLD QVQTFLPQMA RANEKLRKEM AAAPPGRFNI ENIDGPHSKV IQMDVALFEM
130 140 150 160 170 180
NQSDSKEVDS SEESSQDSSE NSSESEDEDD SIPSEVTIDN IKLPNSEGGK GKIEVLDSPA
SKKKK