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

8 structures for O60667

Entry ID Method Resolution Chain Position Source
7YSG EM 318 A R/S/U/V 18-124 PDB
7YTC EM 339 A R 18-124 PDB
7YTD EM 371 A R/S/U/V 18-124 PDB
7YTE X-ray 300 A C/D 18-124 PDB
8BPE EM 363 A I/M/N/O/P/Q/R/S 18-251 PDB
8BPF EM 350 A I 18-251 PDB
8BPG EM 310 A A/B 18-251 PDB
AF-O60667-F1 Predicted AlphaFoldDB

322 variants for O60667

Variant ID(s) Position Change Description Diseaes Association Provenance
CA344494812
rs1350151656
2 D>G No ClinGen
gnomAD
rs114123219
CA1364871
3 F>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1364870
rs757911655
4 W>* No ClinGen
ExAC
gnomAD
CA1364869
rs147642736
5 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764899080
CA1364868
6 W>* No ClinGen
ExAC
gnomAD
rs759853868
CA344494774
8 L>I No ClinGen
ExAC
gnomAD
CA1364867
rs759853868
8 L>V No ClinGen
ExAC
gnomAD
CA344494763
rs1558007468
9 Y>* No ClinGen
Ensembl
rs1414899770
CA344494747
12 P>A No ClinGen
gnomAD
CA1364865
rs552102761
13 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1297375893
CA344492211
14 S>L No ClinGen
gnomAD
CA1364832
rs770859702
16 A>D No ClinGen
ExAC
gnomAD
CA1364833
rs775505567
16 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777892635
CA1364830
21 P>R No ClinGen
ExAC
gnomAD
rs140166670
CA1364828
22 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778545589
CA1364827
25 V>A No ClinGen
ExAC
gnomAD
rs778545589
CA344492019
25 V>G No ClinGen
ExAC
gnomAD
rs754442724
CA1364826
26 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1364825
rs753534621
28 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779983414 28 E>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 29 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1264898267
CA344491948
29 L>V No ClinGen
TOPMed
rs1199005341
CA344491932
30 G>R No ClinGen
TOPMed
CA1364819
rs762438219
31 G>E No ClinGen
ExAC
gnomAD
rs200811923
CA1364820
CA1364821
31 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344491851
rs1273448087
34 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1364818
rs770987820
35 I>F No ClinGen
ExAC
gnomAD
CA36566421
rs770987820
35 I>V No ClinGen
ExAC
gnomAD
CA344491821
rs1309666043
36 K>M No ClinGen
gnomAD
rs762880718
CA344491741
40 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762880718
CA1364816
40 P>T No ClinGen
ExAC
gnomAD
rs1393194498
CA344491682
42 M>I No ClinGen
TOPMed
CA36566398
rs991913284
42 M>T No ClinGen
TOPMed
CA344491661
rs1277667664
43 H>Q No ClinGen
TOPMed
rs1356627251
CA344491658
44 V>M No ClinGen
gnomAD
CA36566376
rs958676725
45 R>K No ClinGen
TOPMed
gnomAD
CA344491617
rs1369966667
46 I>L No ClinGen
gnomAD
rs139493002
CA344491608
46 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1364814
rs144545406
46 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1364811
rs538577206
50 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344491545
rs370696168
50 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1373934644
CA344491508
52 M>L No ClinGen
gnomAD
CA1364807
rs774091460
55 S>C No ClinGen
ExAC
gnomAD
CA344491431
rs1249164453
56 G>E No ClinGen
gnomAD
rs768225740
CA1364806
56 G>R No ClinGen
ExAC
gnomAD
CA344491404
rs1481399347
58 C>R No ClinGen
gnomAD
rs781602626
CA1364801
61 V>A No ClinGen
ExAC
gnomAD
COSM1251690
rs981290107
CA36566297
61 V>M oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs757494473
CA1364800
63 S>F No ClinGen
ExAC
gnomAD
CA1364799
rs752118035
65 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs967220083
CA36566250
65 T>I No ClinGen
gnomAD
rs967220083
CA344491298
65 T>N No ClinGen
gnomAD
rs764455584
CA344491272
66 N>K No ClinGen
ExAC
gnomAD
CA36566228
rs1020537472
69 K>E No ClinGen
Ensembl
rs1291634581
CA344491199
70 A>V No ClinGen
gnomAD
CA1364797
rs758532665
75 R>* No ClinGen
ExAC
TOPMed
gnomAD
COSM532176
rs373086444
CA1364796
COSM1648464
75 R>Q lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765390434
CA1364795
78 L>V No ClinGen
ExAC
gnomAD
rs1471541465
CA344491076
79 K>R No ClinGen
gnomAD
rs1572626398
CA344491016
82 P>R No ClinGen
Ensembl
rs138817695
CA1364793
83 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1364794
rs138817695
83 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1338326
CA36566171
rs995859431
83 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs774368392
CA1364790
85 N>H No ClinGen
ExAC
gnomAD
TCGA novel 86 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344490945
rs1398249741
87 F>L No ClinGen
TOPMed
gnomAD
CA344490900
rs1358717797
89 V>E No ClinGen
TOPMed
CA344490818
rs1401986782
94 L>P No ClinGen
TOPMed
CA36566152
rs976794970
98 D>G No ClinGen
TOPMed
CA1364788
CA1364787
rs371358524
99 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769287956
CA1364786
100 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs376942711
CA1364785
101 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1329050310
CA344490701
101 V>I No ClinGen
TOPMed
gnomAD
rs1329624598
CA344490670
103 A>T No ClinGen
gnomAD
rs150550509
COSM903028
CA1364783
105 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344490629
rs1327644479
106 A>T No ClinGen
gnomAD
CA1364782
rs138175929
COSM903027
106 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1364779
rs753245238
107 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 108 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765483125
CA1364778
110 T>A No ClinGen
ExAC
gnomAD
CA1364777
rs755042951
110 T>I No ClinGen
ExAC
gnomAD
rs754128185
CA344490592
111 D>E No ClinGen
ExAC
gnomAD
rs200225589
CA36566063
112 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
rs768410930
CA1364775
112 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs774062671
TCGA novel
CA1364773
113 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA1364774
rs761700601
113 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1364772
rs763935075
116 Q>R No ClinGen
ExAC
gnomAD
rs571196023
CA36566010
120 L>M No ClinGen
Ensembl
TCGA novel 120 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1364769
rs368812381
123 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758995799
CA1364768
124 S>N No ClinGen
ExAC
gnomAD
rs1305440183
CA344490511
125 E>K No ClinGen
gnomAD
CA344490300
rs1486698912
126 Y>H No ClinGen
gnomAD
rs749787467
CA1364740
127 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1364739
rs780062992
128 P>L No ClinGen
ExAC
gnomAD
rs756152640
CA1364738
130 W>C No ClinGen
ExAC
gnomAD
rs1572625134
CA344490187
132 E>D No ClinGen
Ensembl
rs1386407212
CA344490193
132 E>Q No ClinGen
TOPMed
CA1364737
rs750622888
133 Q>* No ClinGen
ExAC
gnomAD
CA344490166
rs1181752667
135 M>I No ClinGen
Ensembl
CA1364736
rs369159077
135 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758215939
CA1364735
137 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1233750449
CA344490154
137 E>V No ClinGen
gnomAD
CA344490135
rs1356846866
140 K>T No ClinGen
gnomAD
CA344490124
rs1417730538
141 W>C No ClinGen
gnomAD
rs1001678575
CA36565251
141 W>L No ClinGen
TOPMed
gnomAD
rs1295897477
CA344490130
141 W>R No ClinGen
TOPMed
gnomAD
CA344490110
rs1354749224
143 H>Q No ClinGen
gnomAD
COSM212961
rs141485983
CA1364734
143 H>Y breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1364733
rs764992422
144 L>M No ClinGen
ExAC
gnomAD
rs1230124154
CA344490105
144 L>R No ClinGen
TOPMed
CA344490108
rs764992422
144 L>V No ClinGen
ExAC
gnomAD
rs1403969048
CA344490104
145 P>T No ClinGen
gnomAD
rs150066058
CA1364732
147 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1364731
rs753811648
149 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs765816162
CA1364730
149 Q>P No ClinGen
ExAC
gnomAD
CA36565164
rs916059713
155 S>G No ClinGen
TOPMed
gnomAD
CA1364727
rs767239321
158 K>R No ClinGen
ExAC
gnomAD
CA1364726
rs199994920
159 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1364725
rs774906493
160 V>I No ClinGen
ExAC
gnomAD
rs578060627
CA1364724
161 T>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1281930734
CA344489973
163 V>A No ClinGen
gnomAD
CA1364722
rs776007536
163 V>I No ClinGen
ExAC
gnomAD
CA1364704
rs111888932
166 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344489958
rs111888932
166 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1364703
rs549231837
167 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776746733
CA1364702
169 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 171 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344489919
rs1171820744
172 V>L No ClinGen
TOPMed
gnomAD
rs144958422
CA1364700
173 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA36564420
rs912263913
173 P>S No ClinGen
TOPMed
rs1558001980
CA344489900
175 V>A No ClinGen
Ensembl
CA344489891
rs1359818361
CA344489892
176 H>Q No ClinGen
TOPMed
gnomAD
rs747239800
CA344489890
177 H>N No ClinGen
ExAC
gnomAD
rs747239800
CA1364697
177 H>Y No ClinGen
ExAC
gnomAD
CA1364696
rs777918268
178 S>P No ClinGen
ExAC
gnomAD
rs1486143138
CA344489861
181 T>I No ClinGen
gnomAD
CA1364692
rs756128168
182 T>A No ClinGen
ExAC
gnomAD
rs767139267
CA1364690
185 T>I No ClinGen
ExAC
gnomAD
CA1364688
rs751278999
186 H>Q No ClinGen
ExAC
gnomAD
CA1364689
rs756767560
186 H>R No ClinGen
ExAC
gnomAD
CA1364687
rs763799731
187 R>C Variant assessed as Somatic; 4.658e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763799731
CA36564282
187 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1364686
rs762478139
187 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344489829
rs763799731
187 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1364685
rs540532782
188 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA1364684
rs765056259
COSM1689746
189 R>* skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs760153308
CA1364683
189 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344489814
rs1414261006
190 V>A No ClinGen
gnomAD
rs1315049402
CA344489780
196 V>L No ClinGen
gnomAD
CA1364681
rs371965045
198 G>D No ClinGen
ESP
ExAC
gnomAD
rs1558001844
CA344489753
200 K>T No ClinGen
Ensembl
CA1364679
rs773454788
201 P>S No ClinGen
ExAC
gnomAD
CA1364680
rs773454788
201 P>T No ClinGen
ExAC
gnomAD
CA1364678
rs533046547
202 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748297804
CA36564228
207 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs748297804
CA1364677
207 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA36564226
COSM1500738
rs1001936972
209 T>A lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA344489679
rs1425677268
213 I>V No ClinGen
gnomAD
rs1326234282
CA344489667
214 S>* No ClinGen
TOPMed
rs962595967
CA36564214
215 A>S No ClinGen
TOPMed
gnomAD
rs1212608529
CA344489662
215 A>V No ClinGen
gnomAD
rs1572623465
CA344489657
216 L>R No ClinGen
Ensembl
rs371800032
CA36564205
218 G>V No ClinGen
Ensembl
rs575369868
CA36564190
223 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
CA344489608
rs748391555
224 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA1364673
rs748391555
224 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1572623428
CA344489611
224 T>P No ClinGen
Ensembl
CA344489606
rs892091345
225 P>S No ClinGen
TOPMed
gnomAD
CA36564157
rs892091345
225 P>T No ClinGen
TOPMed
gnomAD
rs1233166727
COSM903025
CA344489598
226 S>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1572623372
CA344489582
228 N>T No ClinGen
Ensembl
rs1483126597
CA344489575
229 H>D No ClinGen
TOPMed
CA1364671
rs751151949
229 H>Q No ClinGen
ExAC
TOPMed
rs777121550
CA1364670
230 H>R No ClinGen
ExAC
gnomAD
rs1024264656
CA36564148
230 H>Y No ClinGen
TOPMed
CA344489559
rs1396030280
231 T>I No ClinGen
gnomAD
CA344489556
rs1297445395
232 R>K No ClinGen
TOPMed
gnomAD
CA344489540
rs368503889
234 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375707563
CA1364666
CA344489533
235 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1000837926
CA344489520
237 R>I No ClinGen
TOPMed
gnomAD
CA36564141
rs1000837926
237 R>T No ClinGen
TOPMed
gnomAD
CA344489337
rs1203839656
238 A>P No ClinGen
TOPMed
gnomAD
CA344489338
rs1203839656
238 A>T No ClinGen
TOPMed
gnomAD
rs1261339339
CA344489315
241 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344489273
rs1558000992
244 Q>H No ClinGen
Ensembl
CA344489256
rs1288691232
245 S>F No ClinGen
TOPMed
rs1241511089
CA344489247
246 G>E No ClinGen
gnomAD
rs754241381
CA1364646
246 G>W No ClinGen
ExAC
rs1558000959
CA344489200
249 G>D No ClinGen
Ensembl
CA344489183
rs1371386849
250 Q>R No ClinGen
TOPMed
gnomAD
CA344489172
rs1325480523
251 G>R No ClinGen
gnomAD
CA344489125
rs1380406873
253 H>R No ClinGen
gnomAD
CA1364645
rs566552943
254 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344489113
rs566552943
254 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756673216
CA1364644
255 L>P No ClinGen
ExAC
CA1364643
rs376892573
257 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344489061
rs376892573
257 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1172562819
CA344489048
258 T>I No ClinGen
gnomAD
rs1172562819
CA344489044
258 T>S No ClinGen
gnomAD
rs1259949045
CA344489039
259 I>V No ClinGen
TOPMed
rs866697158
CA36563391
260 L>M No ClinGen
Ensembl
rs1454989144
CA344489014
260 L>R No ClinGen
gnomAD
CA344489007
rs1248783128
261 G>S No ClinGen
gnomAD
CA36563384
rs895473135
262 L>F No ClinGen
TOPMed
CA1364640
rs200596517
265 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1218884961
CA344488969
266 A>T No ClinGen
gnomAD
rs1015080050
CA36563377
267 L>F No ClinGen
TOPMed
gnomAD
rs1180200740
CA344488962
267 L>H No ClinGen
TOPMed
TCGA novel 268 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1364639
rs764263343
269 G>V No ClinGen
ExAC
gnomAD
rs770585880
CA1364638
271 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs776621652
CA1364637
274 R>K No ClinGen
ExAC
rs776621652
CA344488883
274 R>M No ClinGen
ExAC
rs1276370549
CA344488862
275 A>D No ClinGen
gnomAD
CA344488869
rs1345479032
275 A>T No ClinGen
gnomAD
TCGA novel 277 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA344488837
rs1225201506
277 E>Q No ClinGen
gnomAD
CA1364636
rs770843304
278 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA344488697
rs1295523063
281 A>D No ClinGen
TOPMed
rs1338436984
CA344488617
285 R>P No ClinGen
gnomAD
CA344488581
rs1450377521
287 R>G No ClinGen
TOPMed
rs1278764915
CA344488559
288 R>* No ClinGen
TOPMed
gnomAD
rs1278764915
CA344488561
288 R>G No ClinGen
TOPMed
gnomAD
rs1220352913
CA344488552
288 R>L No ClinGen
TOPMed
gnomAD
rs1353050525
CA344488515
290 A>D No ClinGen
gnomAD
rs1187597174
CA344488522
290 A>T No ClinGen
TOPMed
CA344488466
rs1387907494
292 R>S No ClinGen
TOPMed
CA344488418
rs887911195
295 A>S No ClinGen
TOPMed
gnomAD
rs887911195
CA36563059
295 A>T No ClinGen
TOPMed
gnomAD
rs1403472231
CA344488397
296 L>P No ClinGen
TOPMed
CA36563052
rs867145899
297 E>G No ClinGen
TOPMed
gnomAD
rs1306588532
CA344488374
299 S>T No ClinGen
gnomAD
CA344488372
rs1273383310
299 S>Y No ClinGen
gnomAD
CA344488361
rs1572620676
300 Q>H No ClinGen
Ensembl
CA1364622
rs559575559
301 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1364623
rs559575559
301 R>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1364621
rs763329858
303 R>G No ClinGen
ExAC
gnomAD
CA344488340
rs1417295011
303 R>H No ClinGen
gnomAD
CA344488334
rs1342784261
304 G>R No ClinGen
gnomAD
rs546416340
CA344488323
305 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1364620
rs546416340
305 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA36563014
rs1056457856
306 P>L No ClinGen
gnomAD
CA1364619
rs192734594
307 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760340568
CA1364618
308 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA36562996
rs1043626156
309 R>H No ClinGen
Ensembl
rs773235214
CA1364617
311 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs773235214
CA344488273
311 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA344488257
rs1200509662
313 N>S No ClinGen
gnomAD
rs1039020260
CA36562979
314 I>L No ClinGen
TOPMed
CA36562972
rs563855490
317 A>T No ClinGen
1000Genomes
CA36562966
rs749750564
318 C>F No ClinGen
Ensembl
rs771946459
CA1364615
318 C>R No ClinGen
ExAC
gnomAD
rs946541423
CA36562955
320 R>L No ClinGen
TOPMed
rs1380636734
CA344488191
321 R>P No ClinGen
gnomAD
CA344488195
rs1355387443
321 R>S No ClinGen
TOPMed
gnomAD
CA344488186
rs1172946534
322 A>P No ClinGen
TOPMed
gnomAD
CA344488185
rs1172946534
322 A>T No ClinGen
TOPMed
gnomAD
CA344488176
rs1277415546
323 R>G No ClinGen
TOPMed
gnomAD
CA344488172
rs1572620420
323 R>L No ClinGen
Ensembl
CA344488177
rs1277415546
323 R>S No ClinGen
TOPMed
gnomAD
rs779209742
CA1364614
324 G>A No ClinGen
ExAC
gnomAD
rs779209742
CA344488164
324 G>V No ClinGen
ExAC
gnomAD
rs773792868
CA344488156
325 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA1364613
rs773792868
325 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA36562895
rs992570170
326 D>E No ClinGen
TOPMed
rs544145639
CA36562910
326 D>G No ClinGen
1000Genomes
TOPMed
CA36562917
rs918083375
326 D>N No ClinGen
TOPMed
gnomAD
CA36562686
rs929539458
329 G>A No ClinGen
TOPMed
gnomAD
CA36562652
rs922378937
331 G>E No ClinGen
Ensembl
rs1271654408
CA344488102
331 G>W No ClinGen
Ensembl
CA344488094
rs1329001271
332 E>* No ClinGen
TOPMed
rs1303532689
CA344488082
333 A>V No ClinGen
TOPMed
rs377292566
CA36562647
335 V>I No ClinGen
TOPMed
CA344488040
rs1420617186
336 P>H No ClinGen
gnomAD
rs1313900016
CA344488025
337 G>D No ClinGen
TOPMed
gnomAD
rs372229079
CA1364602
337 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA344488000
rs1453566159
338 P>L No ClinGen
TOPMed
rs1572619894
CA344488012
338 P>S No ClinGen
Ensembl
CA344487900
rs765519847
343 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1364601
rs765519847
343 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA344487827
rs1393263270
346 P>Q No ClinGen
TOPMed
rs985030613
CA36562606
348 Q>H No ClinGen
TOPMed
gnomAD
rs1572619821
CA344487800
348 Q>K No ClinGen
Ensembl
rs774948123
CA1364593
349 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA344487178
rs1362466905
351 E>G No ClinGen
gnomAD
rs1418063460
CA344487168
353 P>S No ClinGen
TOPMed
gnomAD
CA344487149
rs1401813006
355 L>P No ClinGen
TOPMed
rs1434288566
CA344487145
356 H>Y No ClinGen
gnomAD
CA1364591
rs41304091
357 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41304091
CA1364590
357 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771257745
CA1364589
358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA344487132
rs771257745
358 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA344487133
rs1176517937
358 P>S No ClinGen
gnomAD
CA344487110
rs1417312230
362 T>A No ClinGen
gnomAD
rs1477878353
CA344487090
364 C>W No ClinGen
gnomAD
rs200690250
CA1364587
365 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA344487078
rs1208336957
366 Y>C No ClinGen
TOPMed
gnomAD
rs758585451
CA344487074
367 V>L No ClinGen
ExAC
gnomAD
rs758585451
CA1364586
367 V>M No ClinGen
ExAC
gnomAD
rs1572612816
CA344487052
370 Y>S No ClinGen
Ensembl
rs1572612801
CA344487044
371 H>P No ClinGen
Ensembl
rs1572612771
CA344487027
373 P>R No ClinGen
Ensembl
rs200837472
CA1364582
375 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA344487015
rs1209825651
375 A>V No ClinGen
TOPMed
rs138108842
CA1364580
376 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767222143
CA1364581
376 M>T No ClinGen
ExAC
gnomAD
CA344487013
rs1288276186
376 M>V No ClinGen
TOPMed
rs751526857
CA1364579
377 M>I No ClinGen
ExAC
gnomAD
rs1414466795
CA344486999
378 E>K No ClinGen
gnomAD
rs1304747353
CA344486971
381 D>G No ClinGen
gnomAD
rs1199975719
CA344486954
383 D>E No ClinGen
TOPMed
CA1364577
rs762854507
384 D>N No ClinGen
ExAC
gnomAD
CA1364576
rs775039633
386 I>L No ClinGen
ExAC
gnomAD
rs775039633
CA344486938
386 I>V No ClinGen
ExAC
gnomAD
CA1364574
rs769337842
387 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs867831977
CA36559493
387 N>Y No ClinGen
Ensembl
rs1009267266
CA36559477
389 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs142847006
CA1364573
389 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1364572
rs776285839
390 A>S No ClinGen
ExAC
gnomAD
CA1364571
rs771220479
391 A>R No ClinGen
ExAC
gnomAD
TCGA novel 391 A>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with O60667

2 regional properties for O60667

Type Name Position InterPro Accession
domain Immunoglobulin subtype 22 - 123 IPR003599
domain Immunoglobulin V-set domain 23 - 123 IPR013106

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass membrane protein
  • Early endosome membrane ; Single-pass membrane protein
  • Golgi apparatus, trans-Golgi network membrane ; Single-pass membrane protein
  • Lysosome membrane ; Single-pass membrane protein
  • Continuously recycles between cytoplasmic pool and the plasma membrane to bind as much IgM as possible
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

3 GO annotations of biological process

Name Definition
cellular defense response A defense response that is mediated by cells.
immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MDFWLWPLYF LPVSGALRIL PEVKVEGELG GSVTIKCPLP EMHVRIYLCR EMAGSGTCGT
70 80 90 100 110 120
VVSTTNFIKA EYKGRVTLKQ YPRKNLFLVE VTQLTESDSG VYACGAGMNT DRGKTQKVTL
130 140 150 160 170 180
NVHSEYEPSW EEQPMPETPK WFHLPYLFQM PAYASSSKFV TRVTTPAQRG KVPPVHHSSP
190 200 210 220 230 240
TTQITHRPRV SRASSVAGDK PRTFLPSTTA SKISALEGLL KPQTPSYNHH TRLHRQRALD
250 260 270 280 290 300
YGSQSGREGQ GFHILIPTIL GLFLLALLGL VVKRAVERRK ALSRRARRLA VRMRALESSQ
310 320 330 340 350 360
RPRGSPRPRS QNNIYSACPR RARGADAAGT GEAPVPGPGA PLPPAPLQVS ESPWLHAPSL
370 380
KTSCEYVSLY HQPAAMMEDS DSDDYINVPA