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

3 structures for Q9Y6I9

Entry ID Method Resolution Chain Position Source
7VEC X-ray 300 A M/N/O/P/Q/R/S/T/U/V/X 271-278 PDB
7VED X-ray 202 A A/B 271-281 PDB
AF-Q9Y6I9-F1 Predicted AlphaFoldDB

261 variants for Q9Y6I9

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM3427729
rs371048238
CA74707448
2 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2424616
rs371048238
2 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1577488848
CA353039376
3 D>A No ClinGen
Ensembl
rs1429628228
CA353039375
3 D>Y No ClinGen
gnomAD
CA353039390
rs1487622497
5 L>R No ClinGen
TOPMed
rs1302055289
CA353039396
7 L>V No ClinGen
gnomAD
rs1286823097
CA353039406
8 G>D No ClinGen
gnomAD
CA2424621
rs147968046
10 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1216619529
CA353039419
11 G>R No ClinGen
TOPMed
CA353039426
rs1215494141
12 G>S No ClinGen
gnomAD
rs1559668735
CA353039435
14 T>P No ClinGen
Ensembl
rs141543510
CA74707557
15 L>F No ClinGen
ESP
TOPMed
rs1577489019
CA353039451
16 L>F No ClinGen
Ensembl
rs1399195733
CA353039464
19 L>V No ClinGen
TOPMed
CA2424623
rs375351243
20 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353039497
rs1466054590
25 A>T No ClinGen
TOPMed
CA2424627
rs368266955
26 G>A No ClinGen
ESP
ExAC
gnomAD
CA353039505
rs368266955
26 G>E No ClinGen
ESP
ExAC
gnomAD
rs751516569
CA2424626
26 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353039509
rs1577489135
27 Y>D No ClinGen
Ensembl
CA2424630
rs151059647
30 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200626698
CA353039551
34 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA2424631
rs200626698
34 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs769193290
CA2424633
35 E>D No ClinGen
ExAC
gnomAD
rs749586556
CA2424632
35 E>G No ClinGen
ExAC
gnomAD
rs770504011
CA353039561
36 V>A No ClinGen
ExAC
TOPMed
rs770504011
CA2424636
36 V>G No ClinGen
ExAC
TOPMed
rs779513874
CA2424635
36 V>L No ClinGen
ExAC
rs779513874
CA2424634
36 V>M No ClinGen
ExAC
rs1328811463
CA353039570
38 A>T No ClinGen
gnomAD
rs1577489286
CA353039584
40 S>A No ClinGen
Ensembl
rs199677902
CA353039589
41 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 41 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353039591
rs1228237936
41 P>R No ClinGen
gnomAD
CA2424638
rs199677902
41 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1266614723
CA353039594
42 P>A No ClinGen
gnomAD
rs963054402
CA74707746
44 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs570400367
CA2424641
44 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353039609
rs570400367
44 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs74561651
CA2424642
45 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1233425655
CA353039617
46 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA2424644
rs761751528
47 T>I No ClinGen
ExAC
gnomAD
CA74707801
rs796554980
49 A>T No ClinGen
TOPMed
rs1461640829
CA353039642
50 Y>S No ClinGen
gnomAD
CA2424647
rs756259318
52 F>L No ClinGen
ExAC
gnomAD
CA2424648
rs766489140
53 H>Y No ClinGen
ExAC
gnomAD
rs755357788
CA2424650
54 M>T No ClinGen
ExAC
TOPMed
CA2424649
rs754113085
54 M>V No ClinGen
ExAC
gnomAD
rs1271935148
CA353039678
55 G>E No ClinGen
gnomAD
CA2424651
rs779429677
55 G>R No ClinGen
ExAC
gnomAD
CA2424652
rs748610886
57 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA353039696
rs1577489518
58 G>C No ClinGen
Ensembl
rs778381727
CA2424654
62 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2424653
rs201059799
62 R>W Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1234156170
CA353039725
63 L>F No ClinGen
gnomAD
CA353039742
rs1265132441
65 T>I No ClinGen
gnomAD
rs745345314
CA2424656
66 E>D No ClinGen
ExAC
gnomAD
CA2424657
rs751449965
67 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2424658
rs751449965
67 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA2424659
rs768382094
68 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs768382094
CA353039757
68 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs774118333
CA2424660
69 S>G No ClinGen
ExAC
gnomAD
rs138563355
CA2424663
73 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760622582
CA2424664
75 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs371669346
CA2424665
75 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA74708014
rs371669346
75 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1375006668
CA353039812
77 I>V No ClinGen
gnomAD
CA353039819
rs780205946
78 A>S No ClinGen
ExAC
gnomAD
CA2424668
rs780205946
78 A>T Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 79 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758880076
CA2424670
80 Y>C No ClinGen
ExAC
gnomAD
CA353039840
rs1178987730
81 Y>C No ClinGen
TOPMed
rs778091014
CA2424671
83 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs747579083
CA2424672
84 P>L No ClinGen
ExAC
gnomAD
CA353039859
rs1237735013
84 P>T No ClinGen
TOPMed
CA2424673
rs755508970
85 H>D No ClinGen
ExAC
gnomAD
rs555508141
CA353039874
86 M>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555508141
CA2424674
86 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353039872
rs1338982079
86 M>V No ClinGen
gnomAD
CA74679084
rs946966866
89 P>A No ClinGen
TOPMed
gnomAD
rs1305707677
CA353041383
91 K>Q No ClinGen
gnomAD
CA353041418
rs1348523007
93 R>* No ClinGen
gnomAD
CA353041421
rs1232360133
93 R>Q No ClinGen
TOPMed
gnomAD
rs558942440
CA74679092
94 C>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs764520358
CA2424689
95 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1205479953
CA353041444
95 A>V No ClinGen
gnomAD
COSM1424290
rs1463264821
CA353041447
96 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA353041472
rs1195017853
98 S>N No ClinGen
gnomAD
rs757769424
CA2424691
99 I>L No ClinGen
ExAC
rs886519784
CA74679138
103 G>D No ClinGen
Ensembl
CA2424692
rs781613518
103 G>R No ClinGen
ExAC
CA353041560
COSM1485354
rs1395096275
104 E>D breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs753312901
CA2424693
106 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1259497973
CA353041614
108 S>C No ClinGen
gnomAD
CA353041654
rs1455714535
112 I>V No ClinGen
gnomAD
CA74679174
rs1056595614
113 D>G No ClinGen
TOPMed
CA2424696
rs747830496
113 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1312021674
CA353041717
116 Q>R No ClinGen
TOPMed
CA353041741
rs1328011009
118 F>L No ClinGen
gnomAD
rs1448212281
CA353041758
121 K>E No ClinGen
TOPMed
CA74679179
rs895196115
121 K>N No ClinGen
TOPMed
CA2424698
rs372279086
122 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1056666177
CA74679196
123 F>I No ClinGen
TOPMed
gnomAD
CA74679221
rs896404201
124 S>P No ClinGen
TOPMed
gnomAD
rs1559675123
CA353041782
125 F>L No ClinGen
Ensembl
rs1267244615
CA353041786
125 F>L No ClinGen
gnomAD
CA353041793
rs1326653501
126 P>L No ClinGen
gnomAD
CA2424701
rs776753541
127 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA2424702
rs759636482
127 A>V No ClinGen
ExAC
gnomAD
CA2424704
rs199663854
128 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1187547568
CA353041815
130 H>R No ClinGen
gnomAD
rs763246169
CA2424705
131 V>L No ClinGen
ExAC
gnomAD
rs763246169
CA2424706
131 V>M No ClinGen
ExAC
gnomAD
CA74679269
rs199694207
132 V>M No ClinGen
Ensembl
CA353041839
rs1411604828
134 A>V No ClinGen
gnomAD
CA2424708
rs138150641
135 T>A No ClinGen
ESP
ExAC
gnomAD
rs1452967456
CA353041845
136 F>I No ClinGen
TOPMed
rs1267680230
CA353041856
137 P>R No ClinGen
TOPMed
CA2424709
rs767989437
139 T>A No ClinGen
ExAC
gnomAD
rs767989437
CA353041867
139 T>P No ClinGen
ExAC
gnomAD
CA2424710
rs750951980
140 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1030749586
CA74679322
143 S>Y No ClinGen
Ensembl
rs1288635204
CA353041896
144 I>F No ClinGen
TOPMed
CA353041907
rs1348348106
145 W>* No ClinGen
gnomAD
CA353041902
rs1236244898
145 W>R No ClinGen
TOPMed
CA2424713
rs752292198
147 A>T No ClinGen
ExAC
gnomAD
rs777358599
CA2424715
148 T>N No ClinGen
ExAC
gnomAD
rs758059920
CA2424714
148 T>P No ClinGen
ExAC
gnomAD
rs371808148
CA2424716
149 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2424717
rs770650548
149 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs781232080
CA2424718
150 R>C No ClinGen
ExAC
gnomAD
rs745803321
CA2424719
150 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745803321
CA353041931
150 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs769934796
CA2424720
151 V>I No ClinGen
ExAC
gnomAD
rs912009143
CA74679380
152 H>R No ClinGen
TOPMed
gnomAD
CA353041944
rs1162784919
153 P>T No ClinGen
TOPMed
gnomAD
CA2424721
rs775697837
157 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA2424723
rs768891984
159 I>T No ClinGen
ExAC
gnomAD
CA353041986
rs1368605668
159 I>V No ClinGen
gnomAD
CA2424749
rs761097253
162 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2424748
rs773556748
162 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2424750
rs766844593
164 L>V No ClinGen
ExAC
gnomAD
rs1281316019
CA353043138
165 C>R No ClinGen
gnomAD
CA353043144
rs1173041240
165 C>W No ClinGen
gnomAD
rs762481142
CA2424752
169 R>L No ClinGen
ExAC
gnomAD
rs762481142
CA353043166
169 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2424751
rs200150485
169 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs948580613
CA74689195
174 Q>E No ClinGen
TOPMed
rs371777255
CA74689231
177 Q>H No ClinGen
Ensembl
rs1006029295
CA74689221
177 Q>R No ClinGen
Ensembl
CA2424755
rs756953605
180 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371011006
CA2424758
186 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2424757
COSM191105
rs148617571
186 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2424760
rs749215563
187 Q>H No ClinGen
ExAC
gnomAD
CA2424759
rs779992812
187 Q>R No ClinGen
ExAC
gnomAD
rs755019035
CA2424761
190 F>V No ClinGen
ExAC
gnomAD
rs748478449
CA74689268
191 Y>C No ClinGen
TOPMed
gnomAD
CA2424762
rs778874112
191 Y>H No ClinGen
ExAC
gnomAD
rs778874112
CA353043335
191 Y>N No ClinGen
ExAC
gnomAD
rs1402945031
CA353043375
194 E>D No ClinGen
TOPMed
TCGA novel 195 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2424763
rs748319268
195 M>V No ClinGen
ExAC
gnomAD
rs1024889737
CA74689290
197 E>D No ClinGen
gnomAD
TCGA novel 202 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 203 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2424765
rs753054411
203 R>Q No ClinGen
ExAC
gnomAD
CA353043517
COSM3427730
rs1412349346
203 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs969044528
CA74689323
205 L>H No ClinGen
Ensembl
CA353043571
rs1405482670
206 V>L No ClinGen
gnomAD
TCGA novel 206 V>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322297814
CA353043622
208 A>V No ClinGen
gnomAD
rs747356480
CA2424767
209 I>M No ClinGen
ExAC
gnomAD
CA2424768
rs771311925
210 D>G No ClinGen
ExAC
gnomAD
CA2424772
rs773727438
216 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA74692403
rs773119646
218 A>T No ClinGen
Ensembl
CA74692412
rs1021804956
220 T>A No ClinGen
TOPMed
gnomAD
rs1409327077
CA353045140
220 T>R No ClinGen
TOPMed
rs1368728208
CA353045152
221 M>V No ClinGen
TOPMed
CA353045213
rs1186344782
223 D>N No ClinGen
gnomAD
rs370467260
CA74692423
224 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2424790
rs370467260
224 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1366333185
CA353045233
224 T>P No ClinGen
gnomAD
rs1471674584
CA353045269
225 S>T No ClinGen
TOPMed
rs1168668889
CA353045312
228 S>R No ClinGen
gnomAD
rs1429611161
CA353045371
231 V>G No ClinGen
gnomAD
CA2424791
rs746307848
231 V>M No ClinGen
ExAC
gnomAD
rs374502236
CA2424792
232 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1396849792
CA353045403
235 S>G No ClinGen
gnomAD
rs772933628
CA2424796
236 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2424795
rs771738706
236 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1298403063
CA353045488
239 S>L No ClinGen
gnomAD
rs753571468
CA2424799
240 A>G No ClinGen
ExAC
gnomAD
rs760417570
CA2424797
240 A>P No ClinGen
ExAC
gnomAD
rs760417570
CA2424798
240 A>T No ClinGen
ExAC
gnomAD
rs752658008
CA2424802
245 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA74692504
rs375133563
245 P>L No ClinGen
ESP
TOPMed
gnomAD
CA353045599
rs1280674115
247 A>V No ClinGen
TOPMed
rs956868003
CA74692513
248 S>I No ClinGen
Ensembl
rs1202744128
CA353045646
250 R>C No ClinGen
gnomAD
rs369579500
CA2424804
250 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1559686636
CA353045680
252 W>* No ClinGen
Ensembl
CA74692545
CA2424806
rs200027537
252 W>C No ClinGen
ExAC
gnomAD
CA353045707
rs1577542707
253 D>G No ClinGen
Ensembl
CA74692558
rs200798093
255 G>C No ClinGen
TOPMed
gnomAD
COSM1424291
CA353045747
rs200798093
255 G>S large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs912780799
CA74692564
255 G>V No ClinGen
Ensembl
rs1197570561
CA353045800
257 T>I No ClinGen
gnomAD
rs1466906932
CA353045791
257 T>S No ClinGen
gnomAD
rs756522578
CA2424809
258 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs756522578
CA74692585
258 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs780667450
CA2424810
258 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756522578
CA353045804
258 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs369013696
CA353045831
CA2424814
259 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375977287
CA2424812
259 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2424815
rs770460422
260 E>K No ClinGen
ExAC
gnomAD
CA74692640
rs919904083
261 H>Q No ClinGen
gnomAD
rs776397239
CA2424816
262 S>R No ClinGen
ExAC
gnomAD
rs555183400
CA2424818
CA353045909
264 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353045939
rs1253969226
267 G>S No ClinGen
gnomAD
CA2424820
rs762861208
270 G>S No ClinGen
ExAC
TOPMed
CA353045997
rs1449106909
271 S>C No ClinGen
TOPMed
CA2424821
rs764083278
272 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764083278
CA353046005
272 S>Y No ClinGen
ExAC
gnomAD
rs367741404
CA2424822
273 F>S No ClinGen
ESP
ExAC
gnomAD
rs757405334
CA2424823
275 E>D No ClinGen
ExAC
gnomAD
CA74692721
rs1015059122
275 E>G No ClinGen
TOPMed
CA74692728
rs878921381
276 L>R No ClinGen
Ensembl
CA2424824
rs767585708
277 D>V No ClinGen
ExAC
gnomAD
CA353046106
rs1270179741
280 G>S No ClinGen
gnomAD
rs938455567
CA353046115
281 E>K No ClinGen
TOPMed
gnomAD
rs938455567
CA74692741
281 E>Q No ClinGen
TOPMed
gnomAD
rs780579663
CA2424827
282 G>E No ClinGen
ExAC
gnomAD
CA2424826
rs756366149
282 G>W No ClinGen
ExAC
gnomAD
rs1577543082
CA353046142
283 P>S No ClinGen
Ensembl
rs749729109
CA2424828
285 G>V No ClinGen
ExAC
gnomAD
CA353046173
rs1057076234
286 E>D No ClinGen
TOPMed
gnomAD
CA2424830
rs779605686
288 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2424829
rs755538682
288 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1577543131
CA353046211
290 D>G No ClinGen
Ensembl
CA353046225
rs746480852
291 P>H No ClinGen
ExAC
gnomAD
CA2424831
rs746480852
291 P>R No ClinGen
ExAC
gnomAD
VAR_061718
rs11553574
CA2424832
292 G>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1559686938
CA353046261
294 E>D No ClinGen
Ensembl
CA353046254
rs1228752835
294 E>K No ClinGen
gnomAD
CA2424834
rs776110618
295 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs769490279
CA2424836
297 G>A No ClinGen
ExAC
gnomAD
rs762773045
CA2424838
298 T>A No ClinGen
ExAC
gnomAD
rs774292309
CA2424841
299 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA2424840
rs774292309
299 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA74692830
rs904180792
300 K>R No ClinGen
Ensembl
CA2424843
rs767638608
302 L>F No ClinGen
ExAC
gnomAD
rs61737032
CA353046352
302 L>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61737032
CA2424844
302 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1167009061
CA353046357
303 W>* No ClinGen
gnomAD
rs760939105
CA2424845
304 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1457363076
CA353046384
305 P>S No ClinGen
gnomAD
rs1372292240
CA353046400
COSM1133013
307 A>T Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2424848
rs565332036
308 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754224540
CA2424847
308 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs775057028
CA2424850
311 G>S No ClinGen
ExAC
gnomAD
rs532507096
CA2424852
313 E>* No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q9Y6I9

No regional properties for Q9Y6I9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y6I9

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass type III membrane protein
  • Cytoplasmic vesicle, autophagosome
  • Cytoplasm, cytosol
  • Nucleus
  • Chromosome
  • Is trafficked from tubular ER to growing autophagosomes via its cytosolic LIR motif (PubMed:31006537)
  • Also found in the cytosol, nucleus and chromatin (PubMed:32152270)
  • In response to formation of covalent DNA-protein cross-links (DPCs), localizes to the nuclear periphery, and associates with DNA replication forks (PubMed:32152270)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
autophagosome membrane The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.
platelet alpha granule lumen The volume enclosed by the membrane of the platelet alpha granule.
replication fork The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.

1 GO annotations of molecular function

Name Definition
signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

2 GO annotations of biological process

Name Definition
protein-DNA covalent cross-linking repair The removal of covalent cross-link between DNA and a protein.
reticulophagy The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MSDLLLLGLI GGLTLLLLLT LLAFAGYSGL LAGVEVSAGS PPIRNVTVAY KFHMGLYGET
70 80 90 100 110 120
GRLFTESCSI SPKLRSIAVY YDNPHMVPPD KCRCAVGSIL SEGEESPSPE LIDLYQKFGF
130 140 150 160 170 180
KVFSFPAPSH VVTATFPYTT ILSIWLATRR VHPALDTYIK ERKLCAYPRL EIYQEDQIHF
190 200 210 220 230 240
MCPLARQGDF YVPEMKETEW KWRGLVEAID TQVDGTGADT MSDTSSVSLE VSPGSRETSA
250 260 270 280 290 300
ATLSPGASSR GWDDGDTRSE HSYSESGASG SSFEELDLEG EGPLGESRLD PGTEPLGTTK
310
WLWEPTAPEK GKE