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 Q8NEA4

Entry ID Method Resolution Chain Position Source
AF-Q8NEA4-F1 Predicted AlphaFoldDB

194 variants for Q8NEA4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA67438784
rs952250104
2 A>V No ClinGen
TOPMed
gnomAD
CA351148356
rs577947245
3 S>L No ClinGen
1000Genomes
ExAC
gnomAD
CA351148353
rs1183226005
3 S>P No ClinGen
TOPMed
CA2153625
rs577947245
3 S>W No ClinGen
1000Genomes
ExAC
gnomAD
rs749345823
CA2153628
4 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs370957305
CA2153627
4 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2153629
rs769314957
6 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1166514747
CA351148372
6 P>L No ClinGen
gnomAD
CA351148369
rs769314957
6 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA2153630
rs769314957
6 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA67438785
rs74794441
7 E>G No ClinGen
ExAC
gnomAD
rs762423299
CA2153631
7 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs762423299
CA351148373
7 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2153632
rs74794441
7 E>V No ClinGen
ExAC
gnomAD
rs1553798655
CA2153634
8 T>A No ClinGen
Ensembl
CA351148382
rs1481793717
8 T>I No ClinGen
gnomAD
rs202219810
CA2153636
9 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
gnomAD
CA2153637
rs765923907
10 F>I No ClinGen
ExAC
gnomAD
rs759130535
CA67438786
10 F>S No ClinGen
Ensembl
CA2153638
rs753556519
12 T>A No ClinGen
ExAC
gnomAD
rs759036863
CA2153639
CA2153640
14 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs887670235
CA67438788
15 Q>* No ClinGen
TOPMed
rs1354424549
CA351148427
16 G>A No ClinGen
TOPMed
CA67438789
rs1006544293
16 G>R No ClinGen
TOPMed
rs1306732381
CA351148434
17 P>L No ClinGen
TOPMed
rs1366653677
CA351148440
18 P>L No ClinGen
TOPMed
rs1484676626
CA351148443
19 P>S No ClinGen
TOPMed
gnomAD
rs1410207060
CA351148449
20 S>R No ClinGen
TOPMed
CA351148455
rs1479769544
21 K>Q No ClinGen
TOPMed
gnomAD
rs183069679
CA2153642
22 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1417932696
CA351148468
CA351148467
22 D>E No ClinGen
gnomAD
rs183069679
CA2153643
22 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1183471382
CA351148464
22 D>N No ClinGen
gnomAD
CA351148473
rs1419898008
23 Y>* No ClinGen
gnomAD
rs769504180
CA2153646
23 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs751292712
CA2153644
23 Y>D No ClinGen
ExAC
gnomAD
rs751292712
CA2153645
23 Y>N No ClinGen
ExAC
gnomAD
CA2153648
rs749576716
25 Q>H No ClinGen
ExAC
gnomAD
rs755046970
CA2153649
26 L>* No ClinGen
ExAC
gnomAD
CA351148493
rs1305044394
26 L>F No ClinGen
gnomAD
rs755046970
CA351148491
26 L>S No ClinGen
ExAC
gnomAD
CA351148497
rs1403023531
27 L>Q No ClinGen
gnomAD
CA67438790
rs921972194
29 T>S No ClinGen
Ensembl
rs779134417
CA2153650
30 R>W No ClinGen
ExAC
gnomAD
CA2153651
rs748648208
31 S>C No ClinGen
ExAC
gnomAD
rs1379443271
CA351148525
32 Q>R No ClinGen
TOPMed
gnomAD
rs1341099988
CA351148903
34 I>S No ClinGen
gnomAD
rs138308951
CA2153679
35 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2153681
rs147327260
36 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767376456
CA2153683
38 W>* No ClinGen
ExAC
gnomAD
CA2153684
rs548696958
38 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1288560009
CA351148948
40 I>M No ClinGen
gnomAD
CA351148943
rs1214992304
40 I>V No ClinGen
gnomAD
rs1176919837
CA351148958
42 L>P No ClinGen
TOPMed
CA2153686
rs765523966
43 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs753027700
CA2153687
43 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1182508707
CA351148985
46 Y>C No ClinGen
TOPMed
gnomAD
CA2153688
rs377169424
47 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2153689
rs201887524
47 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1227455059
CA351148992
48 S>T No ClinGen
gnomAD
CA67445039
rs1004251485
49 T>A No ClinGen
Ensembl
rs1214108958
CA351149003
50 K>Q No ClinGen
TOPMed
rs757788370
CA2153691
51 P>R No ClinGen
ExAC
gnomAD
rs61753284
CA2153690
51 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781703291
CA2153692
52 G>R No ClinGen
ExAC
gnomAD
CA351149042
rs1360397845
56 E>K No ClinGen
TOPMed
gnomAD
rs770212604
CA2153694
57 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA351149056
rs187530910
58 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351149059
rs1341613510
58 H>Q No ClinGen
TOPMed
rs139081403
CA2153697
58 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2153696
rs187530910
58 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1241839113
CA351149062
59 E>Q No ClinGen
gnomAD
CA351149082
rs1277986774
61 F>C No ClinGen
TOPMed
TCGA novel 61 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA67445040
rs975650207
62 L>P No ClinGen
Ensembl
CA2153699
rs773938730
63 E>G No ClinGen
ExAC
gnomAD
CA351149090
rs1311961665
63 E>Q No ClinGen
gnomAD
CA2153702
rs200544029
66 H>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs968852269
CA67445041
66 H>P No ClinGen
TOPMed
CA2153701
rs200544029
66 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351149115
rs1560447290
67 L>I No ClinGen
Ensembl
CA2153703
rs371928808
68 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1391771236
CA351149432
72 A>V No ClinGen
TOPMed
CA2153728
rs201098656
73 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA351149440
rs1437808839
74 I>V No ClinGen
gnomAD
rs1049793522
CA67447252
77 A>G No ClinGen
TOPMed
rs145930016
CA67447253
COSM221481
COSM221482
79 I>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
TCGA novel 79 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143439395
COSM1017557
CA2153730
82 Y>C endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 83 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351149510
rs1220613487
84 I>T No ClinGen
gnomAD
TCGA novel 85 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1057372884
CA67447254
85 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2153731
VAR_045626
rs1035834
86 L>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766599623
CA2153732
87 C>Y No ClinGen
ExAC
gnomAD
rs574202659
CA2153734
92 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351149565
rs1346275291
92 D>N No ClinGen
TOPMed
rs1300277713
CA351149568
92 D>V No ClinGen
TOPMed
rs755336934
CA2153735
93 F>I No ClinGen
ExAC
gnomAD
rs1478744991
CA351149585
95 E>K No ClinGen
TOPMed
gnomAD
CA2153737
rs747866198
96 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2153736
COSM1017560
rs140479647
96 R>W endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs970524734
CA67447255
97 L>V No ClinGen
Ensembl
rs746894162
CA2153740
100 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA351149628
rs1033384470
101 L>F No ClinGen
TOPMed
gnomAD
rs770879889
CA2153741
103 L>V No ClinGen
ExAC
gnomAD
TCGA novel 105 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776477646
CA2153742
105 I>V No ClinGen
ExAC
gnomAD
rs1402373132
CA351149669
108 Y>F No ClinGen
gnomAD
rs747276723
CA67447257
109 L>V No ClinGen
Ensembl
CA351149681
TCGA novel
rs1577361285
110 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1278941273
CA351149686
111 L>V No ClinGen
gnomAD
rs1189187316
CA351149693
112 E>G No ClinGen
TOPMed
CA2153743
rs745676136
112 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA67447258
rs754629116
113 D>Y No ClinGen
Ensembl
CA2153744
rs769538225
114 I>T No ClinGen
ExAC
gnomAD
CA67447260
rs984339155
114 I>V No ClinGen
Ensembl
CA67447262
rs1039324823
116 R>S No ClinGen
TOPMed
gnomAD
CA2153747
rs140140630
118 C>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140140630
CA2153746
118 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773298727
CA2153748
120 T>I No ClinGen
ExAC
gnomAD
rs760713596
CA2153749
124 F>L No ClinGen
ExAC
gnomAD
CA2153750
rs766877980
125 A>T No ClinGen
ExAC
gnomAD
CA351149778
rs1254881487
125 A>V No ClinGen
gnomAD
CA351149779
rs1339102866
126 K>E No ClinGen
TOPMed
CA351150596
rs1378857071
128 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2153768
rs760804470
129 M>I No ClinGen
ExAC
gnomAD
rs1441996228
CA351150602
129 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2153771
rs772081678
134 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA2153772
rs765649952
135 E>D No ClinGen
ExAC
rs1003819693
CA67448830
135 E>K No ClinGen
Ensembl
rs1402954300
CA351150652
136 Q>* No ClinGen
TOPMed
gnomAD
rs1402954300
CA351150651
136 Q>E No ClinGen
TOPMed
gnomAD
CA351150650
rs1402954300
136 Q>K No ClinGen
TOPMed
gnomAD
rs753089890
CA2153773
137 I>T No ClinGen
ExAC
gnomAD
CA351150664
rs1329496171
138 V>I No ClinGen
gnomAD
CA351150681
rs763837354
140 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA2153775
rs763837354
140 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA351150682
rs763837354
140 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1577369239
CA351150688
141 T>I No ClinGen
Ensembl
rs149438648
CA351150695
142 C>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2153779
rs149438648
142 C>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2153780
rs756065810
143 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1196383425
CA351150715
145 I>M No ClinGen
TOPMed
gnomAD
CA351150709
rs1316675323
145 I>V No ClinGen
gnomAD
rs942514590
CA67448832
147 P>S No ClinGen
TOPMed
gnomAD
rs1431982848
CA351150738
149 V>A No ClinGen
TOPMed
gnomAD
CA351150736
rs749047441
149 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs749047441
CA2153782
149 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 151 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2153783
rs148144704
152 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200898703
CA351150761
153 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200898703
CA2153784
153 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA67448833
rs955560425
155 D>G No ClinGen
Ensembl
rs377398090
CA67448834
156 T>I No ClinGen
ESP
TOPMed
rs1168613249
CA351150784
157 G>R No ClinGen
gnomAD
rs1435824441
CA351150791
158 W>* No ClinGen
gnomAD
TCGA novel 158 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402776882
CA351150797
159 R>G No ClinGen
gnomAD
rs1292748455
CA351150808
160 Q>R No ClinGen
gnomAD
TCGA novel 162 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1365173900
CA351150821
162 F>S No ClinGen
gnomAD
CA351150826
rs1206413054
163 F>L No ClinGen
gnomAD
rs987382559
CA67448835
164 T>N No ClinGen
Ensembl
CA2153787
rs770975794
165 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA67448836
rs61753285
166 K>E No ClinGen
Ensembl
CA2153788
rs776597799
166 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1577369311
CA351150858
168 Q>* No ClinGen
Ensembl
rs759712484
CA2153789
169 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs942808736
CA67448837
169 L>V No ClinGen
Ensembl
CA351150869
rs1475550608
170 Q>* No ClinGen
TOPMed
TCGA novel 170 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2153792
rs747143681
171 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2153791
rs139190280
171 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2153795
rs144985086
172 Q>L No ClinGen
ESP
ExAC
gnomAD
CA2153796
rs144985086
172 Q>P No ClinGen
ESP
ExAC
gnomAD
rs749873884
CA2153797
173 L>P No ClinGen
ExAC
gnomAD
CA351150893
rs1487679217
174 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs145410117
CA2153798
174 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2153799
rs145410117
174 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs946076112
CA67448838
176 R>T No ClinGen
Ensembl
CA351150912
rs1440739009
177 K>T No ClinGen
TOPMed
CA2153802
rs754707759
178 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA351150924
rs1425802486
179 K>Q No ClinGen
gnomAD
CA2153803
rs778575480
180 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1577369364
CA351150932
180 Y>N No ClinGen
Ensembl
rs1459301141
CA351150941
181 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2153805
rs757400653
181 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1339816013
CA351150950
182 N>K No ClinGen
gnomAD
rs1560460037
CA351150957
184 R>G No ClinGen
Ensembl
rs368835857
CA67448839
184 R>K No ClinGen
Ensembl
CA67448840
rs572054995
185 E>K No ClinGen
1000Genomes
gnomAD
CA2153806
rs142486766
188 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2153807
rs745938616
189 P>Y No ClinGen
ExAC
gnomAD

No associated diseases with Q8NEA4

1 regional properties for Q8NEA4

Type Name Position InterPro Accession
domain F-box domain 91 - 137 IPR001810

Functions

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

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9UK96 FBXO10 F-box only protein 10 Homo sapiens (Human) PR
Q7TQF2 Fbxo10 F-box only protein 10 Mus musculus (Mouse) PR
10 20 30 40 50 60
MASWLPETLF ETVGQGPPPS KDYYQLLVTR SQVIFRWWKI SLRSEYRSTK PGEAKETHED
70 80 90 100 110 120
FLENSHLQGQ TALIFGARIL DYVINLCKGK FDFLERLSDD LLLTIISYLD LEDIARLCQT
130 140 150 160 170 180
SHRFAKLCMS DKLWEQIVQS TCDTITPDVR ALAEDTGWRQ LFFTNKLQLQ RQLRKRKQKY
GNLREKQP