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 Q6ZNG9

Entry ID Method Resolution Chain Position Source
AF-Q6ZNG9-F1 Predicted AlphaFoldDB

408 variants for Q6ZNG9

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416989253
CA398010069
2 P>L No ClinGen
gnomAD
CA8376022
rs749042261
4 F>I No ClinGen
ExAC
gnomAD
CA398010011
rs1296328908
5 L>P No ClinGen
TOPMed
CA398009998
rs1278251313
6 V>L No ClinGen
TOPMed
gnomAD
rs1400313210
CA398009941
9 L>F No ClinGen
TOPMed
CA398009922
rs1182003048
10 V>F No ClinGen
gnomAD
rs777751622
CA8376021
11 S>F No ClinGen
ExAC
gnomAD
CA398009901
rs1274046579
11 S>T No ClinGen
TOPMed
CA398009677
rs1315429164
23 G>A No ClinGen
gnomAD
CA398009680
rs1315429164
23 G>D No ClinGen
gnomAD
rs758082730
CA8376014
26 T>I No ClinGen
ExAC
gnomAD
CA8376013
rs541167034
27 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287566615
rs541167034
27 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8376012
rs765635078
28 W>* No ClinGen
ExAC
gnomAD
rs963842157
CA287566613
28 W>R No ClinGen
TOPMed
rs1597487367
CA398009553
29 S>P No ClinGen
Ensembl
rs1401710182
CA398009543
29 S>Y No ClinGen
gnomAD
rs976246989
CA398009522
31 W>G No ClinGen
Ensembl
CA287566609
rs976246989
31 W>R No ClinGen
Ensembl
rs1597487352
CA398009477
32 Q>H No ClinGen
Ensembl
CA398009471
rs1361063900
33 Q>* No ClinGen
gnomAD
CA8376010
rs777259592
33 Q>H No ClinGen
ExAC
gnomAD
CA8376011
rs140252285
33 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1597487321
CA398009421
35 M>K No ClinGen
Ensembl
rs1489564596
CA398009426
35 M>V No ClinGen
TOPMed
CA398009380
rs1216890370
36 L>F No ClinGen
TOPMed
CA398009353
rs1474613429
37 F>L No ClinGen
gnomAD
rs764510883
CA8376008
37 F>L No ClinGen
ExAC
gnomAD
CA398009265
rs1414958526
41 T>K No ClinGen
gnomAD
CA8376007
rs147827381
42 A>T No ClinGen
ESP
ExAC
gnomAD
CA398009246
rs1246521138
42 A>V No ClinGen
TOPMed
rs756048695
CA287566585
43 F>L No ClinGen
gnomAD
CA398009151
rs1263046136
46 M>K No ClinGen
gnomAD
CA398009096
rs1567698767
48 K>R No ClinGen
Ensembl
rs1567698756
CA398009088
49 D>N No ClinGen
Ensembl
CA8376005
rs113942862
50 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398009041
rs113942862
50 W>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8376006
rs113942862
50 W>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 52 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287566557
rs867941963
53 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1334284087
CA398008947
55 G>D No ClinGen
gnomAD
CA8376003
rs759886367
57 Q>P No ClinGen
ExAC
gnomAD
CA8376002
rs773129544
60 C>F No ClinGen
ExAC
gnomAD
rs1382038213
CA398008769
61 Y>C No ClinGen
TOPMed
rs769779807
CA8376001
61 Y>H No ClinGen
ExAC
gnomAD
CA398008626
rs1326197642
65 M>I No ClinGen
gnomAD
rs1156694200
CA398008642
65 M>V No ClinGen
gnomAD
rs1460641884
CA398008580
67 D>G No ClinGen
gnomAD
rs112398711
CA8375998
68 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200754656
CA287566530
69 Y>C No ClinGen
gnomAD
rs758027784
CA8375996
72 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8375995
rs758027784
72 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs779247981
CA8375993
73 V>G No ClinGen
ExAC
gnomAD
rs1209418508
CA398006606
80 Q>E No ClinGen
TOPMed
CA287566109
rs867693389
81 L>P No ClinGen
Ensembl
CA8375981
rs768603708
81 L>V No ClinGen
ExAC
gnomAD
TCGA novel 82 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174730947
CA398006506
83 M>I No ClinGen
gnomAD
CA8375978
rs779606236
84 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA8375979
rs746973070
84 M>R No ClinGen
ExAC
gnomAD
CA398006454
rs1193403460
85 P>L No ClinGen
TOPMed
rs771639419
CA8375977
85 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 87 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398006412
rs1430550229
87 R>I No ClinGen
TOPMed
rs1438489688
CA398006382
88 A>P No ClinGen
gnomAD
CA398006283
rs1597486478
92 P>T No ClinGen
Ensembl
rs74532943
CA8375976
93 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1194119252
CA398006228
94 G>R No ClinGen
gnomAD
rs936121292
CA287566084
95 V>F No ClinGen
Ensembl
TCGA novel 96 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375994133
CA398006122
98 A>E No ClinGen
TOPMed
CA398006131
rs1432768022
98 A>T No ClinGen
TOPMed
CA398006114
rs1375994133
98 A>V No ClinGen
TOPMed
rs577200043
CA8375974
99 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778039881
CA8375972
105 I>V No ClinGen
ExAC
gnomAD
rs374998111
CA398005899
106 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398005884
rs1214837928
107 N>T No ClinGen
TOPMed
rs200210515
CA8375970
108 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768141366
CA8375969
110 E>* No ClinGen
ExAC
gnomAD
rs1309993804
CA398005773
113 L>P No ClinGen
TOPMed
rs751708706
CA8375967
114 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1486295017
CA398005748
115 S>G No ClinGen
TOPMed
CA398005734
rs1243848826
115 S>R No ClinGen
gnomAD
rs776460471
CA8375962
120 V>A No ClinGen
ExAC
gnomAD
rs1448514125
CA398005650
121 E>G No ClinGen
gnomAD
rs1344326954
CA398005615
123 K>N No ClinGen
TOPMed
gnomAD
rs914975150
CA287566056
124 S>G No ClinGen
TOPMed
CA8375961
rs760660430
126 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs775342859
CA8375959
128 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1430997998
CA398005553
129 V>G No ClinGen
TOPMed
rs745334661
CA8375958
130 F>C No ClinGen
ExAC
gnomAD
CA8375957
rs745334661
130 F>S No ClinGen
ExAC
gnomAD
rs773883944
CA8375956
131 S>F No ClinGen
ExAC
TCGA novel 131 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8375954
rs770541325
134 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA398005439
rs1316138309
137 Q>R No ClinGen
gnomAD
rs1179824207
CA398005407
139 I>T No ClinGen
gnomAD
rs1444149603
CA398005387
141 E>K No ClinGen
TOPMed
gnomAD
rs1444149603
CA398005385
141 E>Q No ClinGen
TOPMed
gnomAD
CA287566044
rs756070294
145 A>G No ClinGen
TOPMed
gnomAD
CA398005323
rs1442399976
145 A>P No ClinGen
TOPMed
rs1287953178
CA398005309
146 K>E No ClinGen
gnomAD
CA398005286
rs1224095992
147 E>A No ClinGen
gnomAD
CA287566035
rs972780717
149 G>R No ClinGen
Ensembl
CA398005208
rs1246367194
152 S>* No ClinGen
gnomAD
rs548731615
CA8375951
154 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145231451
CA8375950
154 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1414770468
CA398005158
156 Y>S No ClinGen
gnomAD
rs529177884
CA8375949
157 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8375948
rs781744763
157 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs150010343
CA8375947
158 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139656920
CA8375946
158 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200814100
CA8375945
159 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398005128
rs1418599934
161 K>Q No ClinGen
gnomAD
rs77907170
CA287566002
163 D>Y No ClinGen
Ensembl
rs758637309
CA398005067
164 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs758637309
CA8375944
164 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8375942
rs750681169
166 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs760332172
CA398004979
CA8375940
167 V>L No ClinGen
ExAC
gnomAD
CA398004936
rs1175470462
168 Q>R No ClinGen
TOPMed
rs775287841
CA8375939
169 G>S No ClinGen
ExAC
gnomAD
CA398004869
rs1211222996
171 E>Q No ClinGen
gnomAD
rs767404324
CA8375938
174 I>T No ClinGen
ExAC
gnomAD
rs759510949
CA8375937
177 T>I No ClinGen
ExAC
gnomAD
rs1240783854
CA398004669
178 H>Q No ClinGen
TOPMed
gnomAD
rs1354176898
CA398004675
178 H>R No ClinGen
gnomAD
rs773828886
CA8375936
178 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1488933840
CA398004632
180 E>G No ClinGen
gnomAD
rs1291654610
CA8375932
181 R>C No ClinGen
TOPMed
gnomAD
CA8375931
rs748834423
181 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1291654610
CA8375933
181 R>S No ClinGen
TOPMed
gnomAD
rs202118881
CA8375930
183 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769507265
CA8375929
183 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8375927
rs781717920
185 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8375928
rs748418470
185 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs532592586
CA8375924
186 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA8375925
rs375843572
186 Y>C No ClinGen
ESP
ExAC
gnomAD
rs755516124
CA398004462
186 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs755516124
CA8375926
186 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs758347451
CA8375923
188 V>I No ClinGen
ExAC
gnomAD
CA8375922
rs750532025
189 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA8375920
rs757532574
193 L>F No ClinGen
ExAC
gnomAD
rs765330482
CA8375921
193 L>W No ClinGen
ExAC
gnomAD
rs752459776
CA8375919
194 F>S No ClinGen
ExAC
gnomAD
rs1597485967
CA398004174
196 I>V No ClinGen
Ensembl
CA398004141
rs1319311056
197 L>R No ClinGen
gnomAD
CA8375918
rs767349566
198 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 199 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs183150950
CA8375917
201 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751430907
CA8375916
202 L>P No ClinGen
ExAC
gnomAD
rs140199749
CA8375914
204 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766351086
CA8375915
204 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs772806988
CA8375913
206 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs769297130
CA8375912
207 G>A No ClinGen
ExAC
TCGA novel 207 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398003871
rs866574986
207 G>R No ClinGen
TOPMed
gnomAD
CA287565912
rs866574986
207 G>S No ClinGen
TOPMed
gnomAD
rs1356312555
CA398003840
208 G>E No ClinGen
gnomAD
CA8375911
rs761603524
208 G>R No ClinGen
ExAC
gnomAD
CA398003820
rs777118150
209 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs141572082
CA8375909
209 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777118150
CA8375910
209 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398003797
rs1597485898
210 T>A No ClinGen
Ensembl
CA398003769
rs1417293498
211 R>C No ClinGen
gnomAD
CA8375908
rs146158158
211 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8375907
rs141614560
212 M>K Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398003753
rs1454508143
212 M>V No ClinGen
gnomAD
CA398003685
rs1191322315
213 L>P No ClinGen
gnomAD
CA398003628
rs1481342772
215 E>D No ClinGen
gnomAD
rs1385656829
CA398003650
215 E>K No ClinGen
Ensembl
rs372624800
CA8375903
218 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1273085675
CA398003482
220 Y>C No ClinGen
gnomAD
rs754118331
CA8375901
221 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1443613523
CA398003454
221 G>R No ClinGen
TOPMed
rs1597485824
CA398003401
223 V>I No ClinGen
Ensembl
CA398003371
rs1416925821
224 T>A No ClinGen
gnomAD
CA287565883
rs1051101261
227 V>G No ClinGen
TOPMed
rs754709657
CA8375899
228 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA398003218
rs754709657
228 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs754709657
CA398003222
228 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA398003211
rs1478331725
229 V>I No ClinGen
TOPMed
gnomAD
rs1441550071
CA398003160
230 L>F No ClinGen
TOPMed
gnomAD
CA398003157
rs1597485778
231 Y>H No ClinGen
Ensembl
rs1194105921
CA398003123
232 L>V No ClinGen
TOPMed
CA398003099
rs1314575467
233 T>N No ClinGen
gnomAD
CA398003061
rs1268829699
235 C>G No ClinGen
TOPMed
gnomAD
rs764856131
CA8375894
235 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763201056
CA287565860
236 K>N No ClinGen
TOPMed
rs761548690
CA8375893
237 Q>* No ClinGen
ExAC
gnomAD
CA398002962
rs1197824297
237 Q>H No ClinGen
TOPMed
gnomAD
CA8375891
rs768439968
239 H>Q No ClinGen
ExAC
gnomAD
CA8375892
rs776359776
239 H>Y No ClinGen
ExAC
gnomAD
CA398002877
rs1250252413
240 Q>* No ClinGen
gnomAD
CA398002849
rs1213592655
241 K>Q No ClinGen
gnomAD
rs761074372
CA8375890
243 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA287565843
rs902426363
245 P>S No ClinGen
TOPMed
rs201158245
CA8375889
246 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772428238
CA398002651
247 R>K No ClinGen
ExAC
gnomAD
CA8375888
rs772428238
247 R>T No ClinGen
ExAC
gnomAD
rs1307907887
CA398002638
248 G>D No ClinGen
gnomAD
rs1474240197
CA398002645
248 G>R No ClinGen
TOPMed
rs778845341
CA8375886
254 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA287565820
rs778845341
254 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8375885
rs750795064
257 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA8375884
rs749382995
258 D>E No ClinGen
ExAC
gnomAD
rs375748384
CA8375883
259 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398002378
rs1416822284
260 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1188017684
CA398002324
262 T>A No ClinGen
gnomAD
CA287565809
rs921205943
263 C>Y No ClinGen
Ensembl
CA398002273
rs1475842780
264 Q>* No ClinGen
gnomAD
CA398002243
rs1257419071
265 V>A No ClinGen
TOPMed
gnomAD
CA398002244
rs1257419071
265 V>G No ClinGen
TOPMed
gnomAD
CA8375882
rs756358359
266 E>K No ClinGen
ExAC
rs751278391
CA8375881
269 D>G No ClinGen
ExAC
gnomAD
CA8375880
rs779945991
270 M>L No ClinGen
ExAC
gnomAD
rs367917105
CA287565800
271 Q>* No ClinGen
ESP
TOPMed
gnomAD
CA287565798
rs990940847
271 Q>P No ClinGen
TOPMed
CA8375879
rs758251408
273 S>G No ClinGen
ExAC
gnomAD
rs750438696
CA8375878
273 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs147982380
CA8375877
273 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8375875
rs151266248
275 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398002018
rs151266248
275 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398001995
rs1354801908
276 G>R No ClinGen
gnomAD
CA398001950
rs1310411929
277 E>D No ClinGen
gnomAD
rs981790559
CA287565772
278 F>L No ClinGen
TOPMed
rs758288730
CA287565770
279 K>E No ClinGen
Ensembl
CA398001909
rs1362348085
279 K>R No ClinGen
gnomAD
rs111373953
CA287565766
280 F>S No ClinGen
Ensembl
rs1486623464
CA398001809
283 Y>D No ClinGen
TOPMed
CA8375872
rs760446051
284 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1396180462
CA398001710
286 D>N No ClinGen
TOPMed
gnomAD
rs143478082
CA8375871
288 S>L No ClinGen
ESP
ExAC
gnomAD
CA287565755
rs950390219
290 K>M No ClinGen
TOPMed
rs149282797
CA8375870
290 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 290 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs988888282
CA287565754
292 I>T No ClinGen
TOPMed
TCGA novel 292 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs956149002
CA287565751
295 R>Q No ClinGen
TOPMed
gnomAD
CA8375869
rs376563729
295 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774862673
CA8375868
296 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398001358
rs1186266649
299 T>I No ClinGen
gnomAD
rs771450923
CA8375867
301 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs78738842
CA8375866
302 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773319655
CA398001277
305 V>L No ClinGen
ExAC
gnomAD
rs773319655
CA8375865
305 V>M No ClinGen
ExAC
gnomAD
rs1229454413
CA398001263
306 V>F No ClinGen
gnomAD
CA398001255
rs1000225855
307 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398001247
rs1320455530
307 S>R No ClinGen
TOPMed
CA287565736
rs1000225855
307 S>R No ClinGen
gnomAD
rs202097875
CA398001245
308 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8375863
rs202097875
308 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398001223
rs1326085061
311 D>G No ClinGen
gnomAD
rs748458086
CA8375862
313 F>L No ClinGen
ExAC
gnomAD
rs1387892948
CA398001197
315 I>F No ClinGen
gnomAD
CA398001198
rs1387892948
315 I>V No ClinGen
gnomAD
rs758141650
CA8375860
317 G>D No ClinGen
ExAC
gnomAD
CA398001174
rs1440199724
318 T>I No ClinGen
TOPMed
rs1017120283
CA287565723
319 P>T No ClinGen
TOPMed
CA8375857
rs200739857
328 V>I Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287565711
rs1037194460
329 E>Q No ClinGen
Ensembl
CA287565705
rs888219013
331 T>I No ClinGen
Ensembl
rs1206680589
CA398001077
333 Q>E No ClinGen
TOPMed
rs753371224
CA287565701
333 Q>H No ClinGen
ExAC
gnomAD
CA398001068
rs1479669949
334 V>A No ClinGen
TOPMed
gnomAD
CA8375854
rs763746973
334 V>F No ClinGen
ExAC
gnomAD
CA8375853
rs755817432
335 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs752461446
CA8375852
336 H>R No ClinGen
ExAC
gnomAD
rs1191166427
CA398001060
336 H>Y No ClinGen
TOPMed
TCGA novel 337 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480956567
CA398001054
337 E>K No ClinGen
gnomAD
rs767081244
CA8375851
338 L>F No ClinGen
ExAC
gnomAD
CA398001046
rs767081244
338 L>I No ClinGen
ExAC
gnomAD
rs759895729
CA8375850
339 N>H No ClinGen
ExAC
gnomAD
CA8375849
rs142255132
339 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs902542000
CA287565681
340 E>G No ClinGen
TOPMed
gnomAD
CA287565676
rs932340403
341 L>F No ClinGen
Ensembl
CA398001020
rs1328969956
342 W>R No ClinGen
gnomAD
rs545744148
CA287565673
342 W>S No ClinGen
Ensembl
CA287565665
rs112847423
344 D>G No ClinGen
Ensembl
CA8375847
rs763497325
344 D>N No ClinGen
ExAC
gnomAD
CA287565668
rs763497325
344 D>Y No ClinGen
ExAC
gnomAD
CA8375846
rs773264231
346 K>N No ClinGen
ExAC
gnomAD
rs771665356
CA8375845
347 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs976706665
CA287565645
348 V>I No ClinGen
TOPMed
gnomAD
CA398000985
rs976706665
348 V>L No ClinGen
TOPMed
gnomAD
rs943987709
CA287565642
349 S>F No ClinGen
TOPMed
CA8375844
rs748177181
350 G>D No ClinGen
ExAC
gnomAD
rs1567696925
CA398000975
350 G>S No ClinGen
Ensembl
rs1597485163
CA398000948
352 Y>S No ClinGen
Ensembl
rs1597485160
CA398000928
353 H>P No ClinGen
Ensembl
CA287565632
rs750193657
359 G>C No ClinGen
Ensembl
rs1385892506
CA398000809
359 G>V No ClinGen
TOPMed
TCGA novel 360 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597485128
CA398000784
361 L>R No ClinGen
Ensembl
CA8375842
rs768786477
365 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs745637619
CA8375841
366 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759136505
CA8375840
366 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1419680337
CA398000684
367 D>G No ClinGen
gnomAD
rs1249772120
CA398000592
370 N>H No ClinGen
gnomAD
rs147631824
CA8375838
371 M>T No ClinGen
ESP
ExAC
TOPMed
CA8375839
rs770970522
371 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1313924020
CA398000511
372 I>M No ClinGen
gnomAD
rs777417222
CA8375837
372 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA398000500
rs1261129600
373 S>C No ClinGen
TOPMed
CA398000492
rs1280833762
373 S>N No ClinGen
gnomAD
rs1597485057
CA398000474
374 T>P No ClinGen
Ensembl
rs752170419
CA8375836
CA8375835
375 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs537566827
CA8375834
377 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs1390340148
CA398000384
377 Q>R No ClinGen
gnomAD
rs1280871855
CA398000341
379 N>K No ClinGen
gnomAD
rs1373943076
CA398000349
379 N>S No ClinGen
TOPMed
gnomAD
CA8375833
rs774047599
380 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1597485008
CA398000289
382 C>* No ClinGen
Ensembl
CA8375832
rs573376561
382 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8375831
rs371945971
386 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1250367743
CA398000192
388 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8375829
rs368681596
389 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140909751
CA8375828
389 R>Q No ClinGen
ESP
ExAC
gnomAD
rs1364787249
CA398000151
390 F>L No ClinGen
TOPMed
CA398000118
rs1414248701
391 M>T No ClinGen
TOPMed
gnomAD
rs374292457
CA8375827
392 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1160474335
CA398000043
393 M>I No ClinGen
gnomAD
rs201810530
CA8375826
394 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA287565576
rs1023603571
396 N>K No ClinGen
Ensembl
rs1461979221
CA397999960
396 N>S No ClinGen
TOPMed
rs928929295
CA287565571
397 Q>E No ClinGen
TOPMed
gnomAD
rs1014499135
CA287565569
398 A>G No ClinGen
gnomAD
rs768894255
CA397999845
399 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA397999823
rs1307418040
400 D>G No ClinGen
TOPMed
rs760858667
CA8375824
400 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8375823
rs774276819
401 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8375821
rs749100434
405 Q>R No ClinGen
ExAC
gnomAD
CA397999616
rs777796649
407 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs777796649
CA8375820
407 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA397999589
rs1349472621
408 F>S No ClinGen
gnomAD
CA8375819
rs151038855
409 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397999564
rs1234586797
410 A>T No ClinGen
gnomAD
CA8375818
rs747663095
411 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8375816
rs754643990
414 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8375817
rs780614838
414 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA397999269
rs1320669838
421 Y>H No ClinGen
gnomAD
CA8375815
rs751277260
422 S>C No ClinGen
ExAC
gnomAD
CA397999165
rs1485511425
423 S>L No ClinGen
TOPMed
rs758699863
CA8375813
424 N>D No ClinGen
ExAC
gnomAD
rs142866034
CA8375812
424 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8375811
rs139649633
426 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287565534
rs201056616
427 R>P No ClinGen
ExAC
TOPMed
rs201056616
CA8375809
427 R>Q No ClinGen
ExAC
TOPMed
rs146840169
CA8375810
427 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1471698994
CA397998988
428 E>D No ClinGen
gnomAD
CA8375808
rs764138898
430 V>M No ClinGen
ExAC
gnomAD
rs1179319137
CA397998917
431 A>G No ClinGen
gnomAD
rs775788058
CA8375806
432 T>N No ClinGen
ExAC
gnomAD
rs1446676966
CA397998866
434 Q>* No ClinGen
Ensembl
CA8375805
rs370752
435 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370752
CA8375804
VAR_051087
435 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA397998775
rs73975831
436 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1274376853
CA397998752
437 E>V No ClinGen
TOPMed
gnomAD
rs372971807
CA8375801
438 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397998720
rs1272358287
439 L>P No ClinGen
gnomAD
rs1364754388
CA397998628
443 E>D No ClinGen
gnomAD
rs1431919153
CA397998646
443 E>Q No ClinGen
gnomAD
rs776197626
CA8375800
445 Q>R No ClinGen
ExAC
gnomAD
rs1443231077
CA397998547
447 E>* No ClinGen
TOPMed
gnomAD
TCGA novel 450 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767980792
CA8375799
451 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs767980792
CA397998443
451 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1275903383
CA397998431
452 I>N No ClinGen
TOPMed
rs746533236
CA8375798
452 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8375797
rs113460836
454 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758080918
CA8375796
454 Q>P No ClinGen
ExAC
gnomAD
CA397998351
rs1209130155
456 E>* No ClinGen
TOPMed
rs139030411
CA8375795
457 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8375794
rs779199209
458 A>P No ClinGen
ExAC
gnomAD
rs1483690297
CA397998301
458 A>V No ClinGen
TOPMed
CA397998284
rs757773499
459 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1387942331
CA397998296
459 E>Q No ClinGen
gnomAD
CA8375792
rs754370952
460 I>T No ClinGen
ExAC
gnomAD
CA8375791
rs764667550
462 A>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 464 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA397998204
rs1430318768
464 R>T No ClinGen
TOPMed
CA8375790
rs150731532
465 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8375789
rs752848441
466 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA287565486
rs1002023600
467 M>I No ClinGen
TOPMed
CA8375788
rs767815732
467 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8375787
rs759884250
468 D>H No ClinGen
ExAC
gnomAD
CA397998069
rs1295702184
469 D>E No ClinGen
gnomAD
CA8375785
rs550164818
469 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA397998012
rs1398168362
CA397998011
471 M>I No ClinGen
gnomAD
CA397998028
rs1429584727
471 M>L No ClinGen
TOPMed
CA8375784
rs761669861
471 M>T No ClinGen
ExAC
gnomAD
CA287565472
rs796357980
472 D>G No ClinGen
gnomAD
CA8375783
rs776371749
472 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 475 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369239851
CA8375778
477 A>V No ClinGen
ESP
ExAC
gnomAD
CA397997788
rs1428895953
481 S>R No ClinGen
TOPMed
gnomAD
rs138757521
CA8375777
482 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138757521
CA287565457
482 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA397997710
rs1454495155
484 Q>H No ClinGen
gnomAD
rs1282923745
CA397997730
484 Q>K No ClinGen
TOPMed
rs1424016531
CA397997689
485 G>E No ClinGen
gnomAD
CA8375775
rs745581478
488 G>A No ClinGen
ExAC
gnomAD
rs941706912
CA287565449
488 G>S No ClinGen
TOPMed
gnomAD
CA397997638
rs745581478
488 G>V No ClinGen
ExAC
gnomAD
rs748078189
CA8375774
489 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA287565444
rs748078189
489 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 490 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q6ZNG9

2 regional properties for Q6ZNG9

Type Name Position InterPro Accession
domain Integrase, catalytic core 247 - 415 IPR001584
domain Krueppel-associated box 42 - 75 IPR001909

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

1 GO annotations of molecular function

Name Definition
nucleic acid binding Binding to a nucleic acid.

2 GO annotations of biological process

Name Definition
DNA integration The process in which a DNA segment is incorporated into another, usually larger, DNA molecule such as a chromosome.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4FUB7 GIN1 Gypsy retrotransposon integrase-like protein 1 Bos taurus (Bovine) PR
Q9P2P1 NYNRIN Protein NYNRIN Homo sapiens (Human) PR
Q9UN19 DAPP1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P0CF97 FAM200B Protein FAM200B Homo sapiens (Human) PR
Q9QXT1 Dapp1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Mus musculus (Mouse) PR
Q94KB1 MLO14 MLO-like protein 14 Arabidopsis thaliana (Mouse-ear cress) PR
O80580 MLO15 MLO-like protein 15 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SMP1 XTH11 Probable xyloglucan endotransglucosylase/hydrolase protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
O49621 MLO1 MLO-like protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FK75 At5g45670 GDSL esterase/lipase At5g45670 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FI00 MLO11 MLO-like protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MPSFLVPSLV SSPVLLKLLF SPGPKTIWSL WQQPMLFQEA TAFENMTKDW NYLEGSQKDC
70 80 90 100 110 120
YRDTMLDSYE NTVPQGSFLQ LSMMPQRAGN DPPGVSNASE MEMEISNMRE KFLMSVTKLV
130 140 150 160 170 180
ESKSYNSKVF SKEKYFQTIK EVKEAKEKGK KSSRDYRRAA KYDVISVQGT EKLIEATHGE
190 200 210 220 230 240
RDRIRYYVHK EELFDILHDT HLSIGHGGRT RMLKELQGKY GNVTKEVIVL YLTLCKQCHQ
250 260 270 280 290 300
KNPVPKRGLA PKPMTFKDID STCQVEILDM QSSADGEFKF ILYYQDHSTK FIILRPLRTK
310 320 330 340 350 360
QAHEVVSVLL DIFTILGTPS VLDSDSGVEF TNQVVHELNE LWPDLKIVSG KYHPGQSQGS
370 380 390 400 410 420
LEGASRDVKN MISTWMQSNH SCHWAKGLRF MQMVRNQAFD VSLQQSPFEA MFGYKAKFGL
430 440 450 460 470 480
YSSNLPRETV ATLQTEEELE IAEEQLENSL WIRQEERAEI GADRSDMDDD MDPTPEASEP
490
STSQGTSGLL CW