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 Q96LI9

Entry ID Method Resolution Chain Position Source
AF-Q96LI9-F1 Predicted AlphaFoldDB

194 variants for Q96LI9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1235553978
CA412590586
2 N>K No ClinGen
TOPMed
gnomAD
CA327668731
rs141234868
3 R>C No ClinGen
ESP
TOPMed
gnomAD
rs141234868
CA327668730
3 R>G No ClinGen
ESP
TOPMed
gnomAD
CA412590590
rs1488548529
3 R>H No ClinGen
TOPMed
rs1370878886
CA412590603
5 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10370239
rs139980314
7 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412590624
rs764370346
9 R>C No ClinGen
ExAC
gnomAD
rs764370346
CA10370240
9 R>S No ClinGen
ExAC
gnomAD
rs1468131181
CA412590636
11 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10370241
rs754032781
11 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA10370243
rs765187437
12 I>N No ClinGen
ExAC
gnomAD
CA10370245
rs149951169
21 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 23 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_029857
rs2707164
CA10370247
24 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA412590720
rs2707164
24 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412590723
rs1439613806
24 R>H No ClinGen
gnomAD
CA412590722
rs1439613806
24 R>L No ClinGen
gnomAD
CA10370248
rs755363601
26 V>I No ClinGen
ExAC
gnomAD
COSM1467286
rs147890788
CA10370250
COSM1467285
29 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769461268
CA10370251
32 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs772530059
CA10370252
33 N>H No ClinGen
ExAC
gnomAD
CA412590787
rs1406909092
34 A>V No ClinGen
TOPMed
rs1366211431
CA412590799
36 S>L No ClinGen
TOPMed
rs78304044
CA10370256
39 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10370255
rs199875318
39 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1339971400
CA412590835
40 M>I No ClinGen
TOPMed
CA412590830
rs1219739290
40 M>V No ClinGen
TOPMed
CA412590840
rs1355145644
41 L>F No ClinGen
TOPMed
gnomAD
CA412590839
rs1355145644
41 L>V No ClinGen
TOPMed
gnomAD
CA10370269
rs755415158
42 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA10370270
rs761858937
46 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA10370271
rs747807328
46 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs755770526
CA10370272
47 Q>R No ClinGen
ExAC
gnomAD
CA10370274
rs748817043
50 Q>* No ClinGen
ExAC
gnomAD
CA10370275
rs770446581
50 Q>R No ClinGen
ExAC
gnomAD
CA412590903
rs1474736437
51 R>G No ClinGen
gnomAD
rs1185378652
CA412590915
52 A>V No ClinGen
gnomAD
TCGA novel 56 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472864604
CA412590947
57 T>A No ClinGen
gnomAD
rs151084387
CA327668827
57 T>I No ClinGen
ESP
gnomAD
rs1382068254
CA412590955
58 N>S No ClinGen
gnomAD
COSM1119376
rs1391932597
CA412590992
COSM1599159
63 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1402958155
CA412591018
67 H>R No ClinGen
TOPMed
gnomAD
CA327668828
rs771855729
68 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA10370278
rs771855729
68 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs937911528
CA327668829
68 A>V No ClinGen
TOPMed
CA327668830
rs770088156
69 I>V No ClinGen
TOPMed
rs760447315 72 A>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10370279
rs749982754
72 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10370286
rs376953518
75 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA327669144
rs984100716
78 H>P No ClinGen
TOPMed
gnomAD
CA10370288
rs753173434
79 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10370289
rs756498282
80 I>M No ClinGen
ExAC
rs1394972095
CA412591138
83 K>N No ClinGen
gnomAD
CA412591147
rs1315157393
85 A>S No ClinGen
gnomAD
rs1315157393
CA412591145
85 A>T No ClinGen
gnomAD
CA327669145
rs909431548
85 A>V No ClinGen
TOPMed
CA10370293
rs778358348
88 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10370294
rs745814457
88 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA412591169
rs1412620008
89 A>T No ClinGen
TOPMed
rs772050247
CA10370295
92 I>V No ClinGen
ExAC
gnomAD
CA412591196
rs1347053829
93 K>E No ClinGen
TOPMed
gnomAD
CA327669148
rs941677682
94 D>N No ClinGen
TOPMed
gnomAD
rs779959401
CA10370296
98 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1259211374
CA412591241
99 C>Y No ClinGen
TOPMed
rs768207006
CA10370304
109 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1398872332
CA412591346
112 P>L No ClinGen
gnomAD
rs1466269682
CA412591350
113 F>S No ClinGen
gnomAD
CA10370307
rs764473329
114 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA10370308
rs764473329
114 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10370310
rs144611010
115 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10370311
rs749999780
116 F>L No ClinGen
ExAC
gnomAD
TCGA novel 118 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757870174
CA10370312
122 T>A No ClinGen
ExAC
gnomAD
CA327669173
rs563545258
123 D>N No ClinGen
Ensembl
rs780014397
CA10370313
126 G>S No ClinGen
ExAC
gnomAD
rs1456019989
CA412591465
130 F>L No ClinGen
TOPMed
CA327669174
rs761533023
135 V>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA412591502
rs761533023
135 V>L No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 137 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138423407
CA10370318
138 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138423407
CA10370319
138 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747488230
CA10370342
144 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs149276385
CA10370343
146 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1362249081
CA412591599
147 C>* No ClinGen
gnomAD
CA412591613
rs1400361820
149 L>R No ClinGen
gnomAD
CA412591618
rs1353177386
150 M>T No ClinGen
TOPMed
gnomAD
CA10370344
rs776970311
155 F>C No ClinGen
ExAC
gnomAD
rs1312827279
CA412591663
156 H>R No ClinGen
TOPMed
gnomAD
CA10370345
rs113172105
157 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10370346
rs765534922
COSM166928
157 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412591673
rs1288755331
158 I>V No ClinGen
gnomAD
rs780859887
CA327669947
159 I>T No ClinGen
1000Genomes
CA10370347
rs772880794
164 R>C No ClinGen
ExAC
gnomAD
rs762524721
CA10370348
164 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs375112667
CA10370349
165 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752200961
CA10370350
167 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA327669948
rs1010224065
167 P>S No ClinGen
Ensembl
CA412591747
rs1230723502
169 S>T No ClinGen
TOPMed
TCGA novel 171 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10370353
rs780411850
174 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs751467045
CA327669949
177 V>I No ClinGen
Ensembl
rs1156831958
CA412591820
179 T>I No ClinGen
gnomAD
CA10370354
rs186677792
180 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1420150874
CA412591846
183 Y>D No ClinGen
TOPMed
gnomAD
rs1420150874
CA412591847
183 Y>H No ClinGen
TOPMed
gnomAD
rs777674169
CA10370356
184 V>G No ClinGen
ExAC
gnomAD
rs1266544331
CA412591862
185 Q>R No ClinGen
TOPMed
gnomAD
rs1376903341
CA412592069
186 Y>C No ClinGen
gnomAD
CA10370371
rs372943491
187 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs16982852
VAR_029858
CA10370372
187 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1220152009
CA412592089
188 S>N No ClinGen
TOPMed
gnomAD
CA10370373
rs752714645
189 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA412592125
rs369303661
191 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10370375
rs369303661
191 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866886877
CA327670514
193 A>D No ClinGen
Ensembl
rs1254160722
CA412592177
195 A>E No ClinGen
TOPMed
rs1453901753
CA412592168
195 A>T No ClinGen
TOPMed
TCGA novel 197 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753748456
CA10370376
198 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10370378
rs780368307
199 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1244877019
CA412592238
201 N>S No ClinGen
gnomAD
rs1191542694
CA412592290
COSM1467290
COSM1467289
205 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1418453985
CA412592292
205 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs375708749
CA327670515
208 N>S No ClinGen
Ensembl
TCGA novel 209 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 211 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA327670518
rs946448605
212 I>S No ClinGen
TOPMed
gnomAD
CA327670517
rs946448605
212 I>T No ClinGen
TOPMed
gnomAD
CA412592385
rs1172319069
213 P>R No ClinGen
gnomAD
CA412592378
rs1601971433
213 P>T No ClinGen
Ensembl
rs147217789
CA412592390
214 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412592404
rs1443644473
215 T>S No ClinGen
gnomAD
rs371158194
CA10370382
218 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778248163
CA10370384
221 I>V No ClinGen
ExAC
gnomAD
rs771179658
CA10370386
227 S>P No ClinGen
ExAC
gnomAD
rs140614869
CA10370387
233 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1026306543
CA327670519
233 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
COSM3037077
rs771619651
COSM3037076
CA10370389
235 R>* Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10370390
rs775086373
235 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412592641
rs1222125644
236 N>S No ClinGen
gnomAD
rs150830689
CA10370392
244 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10370393
rs764164047
245 P>L No ClinGen
ExAC
gnomAD
COSM1119390
CA10370395
rs761720174
247 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751809793
CA10370397
250 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA10370398
rs755097364
253 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs755097364
CA412592850
253 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA412592875
rs1402201957
255 L>I No ClinGen
gnomAD
CA10370401
rs760908965
256 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10370400
rs570262107
256 R>W No ClinGen
ExAC
gnomAD
CA412592888
rs1569256240
257 I>V No ClinGen
Ensembl
CA412592905
rs1193912601
258 V>A No ClinGen
TOPMed
rs760843941
CA10370403
259 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 262 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394537849
CA412593492
263 G>S No ClinGen
gnomAD
CA10370412
rs776737577
264 P>S No ClinGen
ExAC
gnomAD
CA412593507
rs1265085121
265 Y>C No ClinGen
TOPMed
rs774226096
CA10370415
270 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10370417
rs369841797
273 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1274867520
CA412593578
276 K>R No ClinGen
TOPMed
TCGA novel 278 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs963066713
CA327670720
279 N>K No ClinGen
TOPMed
CA10370419
rs756209217
282 K>N No ClinGen
ExAC
gnomAD
rs764120865
COSM1467291
CA10370420
COSM1119392
286 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10370421
rs754349627
287 R>* No ClinGen
ExAC
gnomAD
rs374940902
CA10370422
287 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374940902
CA412593652
287 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1442089915
CA412593658
288 S>C No ClinGen
gnomAD
CA10370423
rs779465209
288 S>T No ClinGen
ExAC
gnomAD
CA10370424
rs200919353
289 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1464836975
CA412593688
291 A>T No ClinGen
gnomAD
TCGA novel 291 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10370425
rs758763865
293 M>L No ClinGen
ExAC
gnomAD
CA412593757
rs1403179050
295 V>A No ClinGen
gnomAD
rs1329415351
CA412593778
297 K>R No ClinGen
gnomAD
TCGA novel 297 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779871743
CA10370426
298 M>I No ClinGen
ExAC
gnomAD
CA10370427
rs746616261
301 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 306 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 308 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768282664
CA10370428
312 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 313 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200387112
CA412594048
317 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200387112
CA10370437
317 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA327670750
rs145285684
318 G>C No ClinGen
ESP
TOPMed
CA412594058
rs1363345004
318 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 319 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760821521
CA10370439
321 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA412594110
rs1168743734
323 K>R No ClinGen
gnomAD
CA412594124
rs1601973664
324 D>G No ClinGen
Ensembl
rs764175819
CA10370440
324 D>H No ClinGen
ExAC
gnomAD
rs1281498422
CA412594147
326 Y>H No ClinGen
gnomAD
rs368045553
CA10370442
330 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q96LI9

No regional properties for Q96LI9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96LI9

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
MNRSSNVPRK GILKSGTRSL QKVRRVHFAN ARNARSLLSM LKDISAQIIQ RAWLSHTNKM
70 80 90 100 110 120
IFRLLKHAIC AAEFYVTHEI LKKVAPLEAK LIKDPTMQCK IRFRFRGETF PPFIVFKIFL
130 140 150 160 170 180
HTDGHGYKYF SGKNVLMPSS KAVDDACKLM GERKFHRIIM EDERIFPKSK VTDIMDVVTM
190 200 210 220 230 240
QDYVQYRSFF DEAPAFSGGR NNSWRKLNLE NIPRTMLMYD IVHYSESGVI SNRLRNEMKF
250 260 270 280 290 300
LLQRPVTQEI HKHQLRIVSE IRGPYLTVQP LYRPYKQQNQ VKFLGRRSKQ AQMKVEKMRK
310 320 330
VYLAKEKNTS EVTEPKTGPS GTKDNYHLHS IF