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 C9J6K1

Entry ID Method Resolution Chain Position Source
AF-C9J6K1-F1 Predicted AlphaFoldDB

194 variants for C9J6K1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs576562572
CA406989257
5 V>A No ClinGen
TOPMed
gnomAD
rs576562572
CA309615274
5 V>G No ClinGen
TOPMed
gnomAD
rs1181743515
CA406989297
7 P>L No ClinGen
gnomAD
rs866422546
CA309615279
8 V>A No ClinGen
TOPMed
CA309615277
rs893184611
8 V>L No ClinGen
TOPMed
gnomAD
CA406989302
rs893184611
8 V>M No ClinGen
TOPMed
gnomAD
CA309615284
rs775646984
13 M>L No ClinGen
Ensembl
rs1010321930
CA309615287
13 M>T No ClinGen
gnomAD
rs1462350556
CA406989459
16 P>L No ClinGen
gnomAD
rs1050467280
CA309615289
16 P>S No ClinGen
TOPMed
rs375741176
CA309615290
17 T>I No ClinGen
Ensembl
rs780829258
CA9600706
CA309615294
18 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1433956835
CA406989492
18 M>T No ClinGen
TOPMed
CA406989524
rs1421988997
19 H>Q No ClinGen
gnomAD
CA9600707
rs748175897
19 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 20 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769851402
CA9600708
21 K>Q No ClinGen
ExAC
gnomAD
rs1599826482
CA406989564
22 A>E No ClinGen
Ensembl
rs1479036211
CA406990601
23 G>E No ClinGen
gnomAD
CA406990614
rs1424768203
24 A>D No ClinGen
gnomAD
rs887436354
CA406990608
24 A>P No ClinGen
gnomAD
CA309617201
rs887436354
24 A>S No ClinGen
gnomAD
rs887436354
CA406990607
24 A>T No ClinGen
gnomAD
CA406990610
rs1424768203
24 A>V No ClinGen
gnomAD
CA309617204
rs542605854
27 M>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs1036511187
CA309617207
28 D>Y No ClinGen
TOPMed
gnomAD
rs1258935569
CA406990680
29 L>P No ClinGen
TOPMed
rs765677846
CA9600717
30 E>K No ClinGen
ExAC
gnomAD
rs192383921
CA309617212
31 T>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA406990720
rs192383921
31 T>N No ClinGen
1000Genomes
TOPMed
gnomAD
rs1419688962
CA406990724
32 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406990750
rs1464553855
33 E>G No ClinGen
TOPMed
rs1189175389
CA406990809
35 M>I No ClinGen
gnomAD
rs1366947045
CA406990822
36 Q>* No ClinGen
TOPMed
gnomAD
rs1436530363
CA406990835
36 Q>H No ClinGen
gnomAD
CA406990818
rs1366947045
36 Q>K No ClinGen
TOPMed
gnomAD
CA406990845
rs1257264275
37 A>P No ClinGen
gnomAD
CA9600719
rs185628472
38 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs558403135
CA9600718
38 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs540911652
CA9600720
39 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA406990905
rs1282176261
40 L>R No ClinGen
TOPMed
rs1237931324
CA406990987
44 I>V No ClinGen
gnomAD
rs778504965
CA309617228
45 K>R No ClinGen
Ensembl
rs1007445473
CA309617231
47 S>L No ClinGen
TOPMed
gnomAD
TCGA novel 47 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530632779
CA309617241
52 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA406991210
rs1353350473
52 R>W No ClinGen
TOPMed
gnomAD
CA406991259
rs1599829521
54 V>G No ClinGen
Ensembl
rs117025012
CA9600726
54 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1177182398
CA406991264
55 I>V No ClinGen
gnomAD
rs959581840
CA309617246
59 E>K No ClinGen
TOPMed
gnomAD
CA406991358
rs1226861586
59 E>V No ClinGen
gnomAD
rs1411058885
CA406991442
62 D>G No ClinGen
gnomAD
CA309617251
rs908824661
63 R>* No ClinGen
TOPMed
gnomAD
CA309617254
rs940324471
63 R>Q No ClinGen
TOPMed
gnomAD
rs1399123260
CA406991506
64 E>G No ClinGen
gnomAD
CA406991489
rs1364412327
64 E>K No ClinGen
TOPMed
rs991076028
CA309617256
65 L>F No ClinGen
TOPMed
gnomAD
rs991076028
CA406991519
65 L>I No ClinGen
TOPMed
gnomAD
CA406991557
rs1335945274
66 P>L No ClinGen
gnomAD
rs749206263
CA9600727
67 C>Y No ClinGen
ExAC
gnomAD
CA406991590
rs1377117135
68 I>T No ClinGen
TOPMed
gnomAD
rs1258737240
CA406991613
69 R>Q No ClinGen
TOPMed
gnomAD
rs144243088
CA9600728
69 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1196909390
CA406991690
72 P>R No ClinGen
gnomAD
rs4801844
CA9600729
77 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs4801844
CA406991766
77 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406991811
rs1236267677
79 P>L No ClinGen
gnomAD
rs933065966
CA309617263
79 P>S No ClinGen
gnomAD
CA406991800
rs933065966
79 P>T No ClinGen
gnomAD
CA309617268
rs924409330
81 C>* No ClinGen
TOPMed
rs148726014
CA309617271
84 M>V No ClinGen
1000Genomes
TOPMed
rs1422206797
CA406991886
85 E>K No ClinGen
gnomAD
rs1463800179
CA406991905
86 T>A No ClinGen
gnomAD
CA9600735
rs773751385
88 P>S No ClinGen
ExAC
gnomAD
rs1420302321
CA406992366
90 E>K No ClinGen
gnomAD
CA406992387
rs1270031961
91 D>G No ClinGen
TOPMed
CA309617748
rs1027850544
91 D>N No ClinGen
TOPMed
gnomAD
rs766503302
CA9600737
93 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 94 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1331916551
CA406992484
98 L>M No ClinGen
TOPMed
gnomAD
rs1331916551
CA406992486
98 L>V No ClinGen
TOPMed
gnomAD
CA406992525
rs1024031878
100 A>D No ClinGen
gnomAD
CA309617754
rs1024031878
100 A>V No ClinGen
gnomAD
CA9600739
rs759810149
104 Q>* No ClinGen
ExAC
gnomAD
CA406992619
rs1568422081
106 P>L No ClinGen
Ensembl
rs1211131965
CA406992636
108 A>T No ClinGen
gnomAD
rs575466887
CA309617762
109 M>I No ClinGen
1000Genomes
CA309617760
rs748546582
109 M>T No ClinGen
gnomAD
rs113399266
CA9600740
109 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA406992667
rs1283651855
110 E>K No ClinGen
TOPMed
CA309617766
rs867833546
111 S>T No ClinGen
Ensembl
CA406992722
rs1394190188
112 G>E No ClinGen
TOPMed
CA406992711
rs1450688791
112 G>R No ClinGen
TOPMed
gnomAD
CA9600741
rs536402359
113 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs554798671
CA9600742
113 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs916582222
CA309617776
115 S>R No ClinGen
TOPMed
CA406992778
rs1440052328
116 S>C No ClinGen
gnomAD
CA406992776
rs1440052328
116 S>G No ClinGen
gnomAD
CA406992822
rs1157785829
117 I>N No ClinGen
gnomAD
rs1378431982
CA406992837
118 R>C No ClinGen
gnomAD
CA406992842
rs777688296
118 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs777688296
CA9600743
118 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9600744
rs753884072
120 E>* No ClinGen
ExAC
gnomAD
CA309617783
rs1051165815
120 E>D No ClinGen
Ensembl
rs753884072
CA406992872
120 E>K No ClinGen
ExAC
gnomAD
CA9600745
rs573114045
121 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9600746
rs778486214
122 M>I No ClinGen
ExAC
gnomAD
CA406992928
rs1393253220
CA406992920
122 M>L No ClinGen
TOPMed
gnomAD
rs1451024992
CA406992933
122 M>T No ClinGen
Ensembl
rs942820982
CA309617790
124 V>I No ClinGen
gnomAD
CA406993013
rs1261316931
125 I>M No ClinGen
TOPMed
CA309617796
rs925383821
125 I>S No ClinGen
TOPMed
gnomAD
CA406993056
rs1308917823
127 G>E No ClinGen
gnomAD
CA9600747
rs745311338
128 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1247536197
CA406993085
129 A>T No ClinGen
gnomAD
CA406993099
rs1159657338
129 A>V No ClinGen
gnomAD
CA309617802
rs1043922253
130 G>A No ClinGen
TOPMed
gnomAD
rs540313417
CA9600749
131 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558395868
CA9600750
132 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1053002170
CA309617805
132 R>W No ClinGen
TOPMed
gnomAD
CA406993156
rs1457895447
133 N>D No ClinGen
gnomAD
rs1177788313
CA406993166
133 N>K No ClinGen
gnomAD
rs1236064956
CA406993176
134 R>L No ClinGen
gnomAD
CA309617807
rs944254593
134 R>W No ClinGen
TOPMed
CA406994025
rs1388427908
136 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs576875269
CA9600752
137 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1185910805
CA406994087
140 T>M No ClinGen
TOPMed
gnomAD
CA406994106
rs1478308231
141 D>E No ClinGen
gnomAD
TCGA novel 141 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406994110
rs1170221127
142 F>L No ClinGen
gnomAD
rs1018230174
CA309618044
144 T>A No ClinGen
Ensembl
rs964029025
CA309618047
144 T>R No ClinGen
TOPMed
gnomAD
rs1467872749
CA406994175
146 S>L No ClinGen
TOPMed
gnomAD
CA406994178
rs1467872749
146 S>W No ClinGen
TOPMed
gnomAD
CA406994186
rs1378560973
147 R>C No ClinGen
TOPMed
CA406994189
rs1178930503
147 R>H No ClinGen
TOPMed
rs979470681
CA406994225
150 R>C No ClinGen
gnomAD
rs1279618855
CA406994227
150 R>H No ClinGen
gnomAD
CA309618053
rs979470681
150 R>S No ClinGen
gnomAD
CA406994236
rs1417815260
152 G>R No ClinGen
TOPMed
rs1292963340
CA406994258
154 S>G No ClinGen
gnomAD
CA406994263
rs1313550997
154 S>N No ClinGen
gnomAD
rs1210579849
CA406994280
155 P>S No ClinGen
TOPMed
gnomAD
CA406994275
rs1210579849
155 P>T No ClinGen
TOPMed
gnomAD
CA406994315
rs1179278618
157 G>E No ClinGen
TOPMed
CA406994303
rs1255134364
157 G>R No ClinGen
gnomAD
rs774504933
CA9600755
160 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA406994351
rs1203259810
160 H>Y No ClinGen
TOPMed
CA309618060
rs1032818133
161 Q>H No ClinGen
TOPMed
gnomAD
CA309618065
rs563701623
162 I>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA406994394
rs1315006953
162 I>T No ClinGen
TOPMed
rs1235367688
CA406994384
162 I>V No ClinGen
TOPMed
CA9600756
rs759492228
163 V>M No ClinGen
ExAC
gnomAD
TCGA novel 164 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767601758
CA9600757
165 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA406994443
rs1435069671
165 H>Q No ClinGen
gnomAD
rs767601758
CA309618069
165 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1177251657
CA406994460
166 D>E No ClinGen
gnomAD
rs1599831243
CA406994470
167 D>A No ClinGen
Ensembl
rs549756528
CA309618072
167 D>H No ClinGen
TOPMed
gnomAD
CA406994468
rs549756528
167 D>N No ClinGen
TOPMed
gnomAD
CA309618074
rs549756528
167 D>Y No ClinGen
TOPMed
gnomAD
COSM3357188
CA406994526
rs1360655871
171 G>D haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1300564726
CA406994521
171 G>R No ClinGen
gnomAD
CA309618077
rs1028908851
172 D>Y No ClinGen
TOPMed
rs1599831264
CA406994560
173 Y>S No ClinGen
Ensembl
rs752910483
CA309618079
174 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs752910483
CA309618084
174 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA309618085
rs760965435
174 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760965435
CA9600759
174 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs752910483
CA9600758
174 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA406994606
rs1462161507
176 H>P No ClinGen
TOPMed
gnomAD
CA406994613
rs1183268143
177 L>M No ClinGen
TOPMed
rs1443175667
CA406994630
178 R>C No ClinGen
TOPMed
rs755959661
CA309618086
179 R>C No ClinGen
gnomAD
TCGA novel 182 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs908818056
CA406994664
182 V>F No ClinGen
TOPMed
gnomAD
rs908818056
CA309618087
182 V>L No ClinGen
TOPMed
gnomAD
CA309618088
rs949577078
183 R>W No ClinGen
TOPMed
gnomAD
rs1444410571
CA406994672
184 R>G No ClinGen
gnomAD
CA406994675
rs1215173706
184 R>Q No ClinGen
gnomAD
TCGA novel 184 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406994679
rs1489628154
185 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406994701
rs1452923418
188 E>Q No ClinGen
gnomAD
rs377132289
CA9600761
189 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1400581788
CA406994749
191 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1390082492
CA406994752
192 A>T No ClinGen
gnomAD
rs1599831337
CA406994761
192 A>V No ClinGen
Ensembl
CA309618099
rs926890870
193 E>G No ClinGen
TOPMed
CA406994788
rs1243652325
194 P>A No ClinGen
TOPMed
rs936977545
CA309618102
197 E>K No ClinGen
Ensembl
rs898203923
CA309618119
199 A>G No ClinGen
TOPMed
gnomAD
CA309618116
rs898203923
199 A>R No ClinGen
TOPMed
gnomAD

No associated diseases with C9J6K1

No regional properties for C9J6K1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for C9J6K1

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

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MQPEVEPVCF PAMGSPTMHR KAGALLMDLE TPEEMQARSL GRPIKSSKQY LRQVIAEYEA
70 80 90 100 110 120
LDRELPCIRK FPTPPASQPL CLCMETLPEE DFTHLEVLQA LEAQLPGAME SGRVSSIRFE
130 140 150 160 170 180
NMNVICGTAG RRNRWLIAVT DFQTRSRLLR SGLSPRGLAH QIVRHDDLLL GDYRLHLRRS
190
LVRRRMLEAL GAEPNEEA