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

6 structures for O75907

Entry ID Method Resolution Chain Position Source
6VP0 EM 310 A C/E 1-488 PDB
6VYI EM 300 A A/B 1-488 PDB
6VZ1 EM 320 A A/B 1-488 PDB
8ESM EM 320 A A/B 1-488 PDB
8ETM EM 320 A A/B 1-488 PDB
AF-O75907-F1 Predicted AlphaFoldDB

434 variants for O75907

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1588689245
RCV001007932
2 G>missing Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinVar
dbSNP
RCV000660629
RCV001584520
rs782577883
RCV002252199
210 S>missing Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinVar
dbSNP
RCV001871823
CA4936939
RCV001331727
rs150434452
212 R>C Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4936835
rs373363244
RCV001331728
269 R>C Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000988127
rs1554847435
CA372611513
RCV001858686
280 R>* Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes gnomAD
ClinGen
ClinVar
dbSNP
RCV000201459
CA279287
rs863225093
295 L>P Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000988126
rs1200919286
297 Q>missing Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinVar
dbSNP
RCV001250059
rs374729844
358 R>P Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinVar
dbSNP
CA372607900
rs1588680049
RCV000844891
437 Q>R Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_082141 458 W>del DIAR7; unknown pathological significance [UniProt] Yes UniProt
RCV000599300
RCV002463455
rs1554847009
488 A>missing Congenital diarrhea 7 with exudative enteropathy [ClinVar] Yes ClinVar
dbSNP
rs1554848831
CA372613587
2 G>V No ClinGen
Ensembl
rs1000216326
CA372613562
6 S>I No TOPMed
gnomAD
ClinGen
rs1000216326
CA187671704
6 S>N No ClinGen
TOPMed
gnomAD
rs1220548345
CA372613552
8 R>W No ClinGen
TOPMed
rs1554848827
CA372613546
9 R>C No ClinGen
gnomAD
rs572761204
CA187671693
9 R>L No ClinGen
1000Genomes
TOPMed
CA372613540
rs1554848824
10 R>L No gnomAD
ClinGen
CA187671689
rs1023036507
10 R>W No ClinGen
Ensembl
CA372613529
rs1346485172
12 T>K No ClinGen
TOPMed
gnomAD
rs1554848820
CA372613524
13 G>W No gnomAD
ClinGen
rs1440005282
CA372613511
15 R>Q No ClinGen
TOPMed
rs1232613286
CA372613501
17 S>T No ClinGen
TOPMed
CA4937155
rs782451896
18 S>C No ExAC
TOPMed
gnomAD
ClinGen
CA372613494
rs1554848814
18 S>N No ClinGen
Ensembl
rs1588689188
CA372613492
18 S>R No Ensembl
ClinGen
CA372613464
rs1395990904
23 G>R No TOPMed
ClinGen
CA372613460
rs1554848812
23 G>V No ClinGen
gnomAD
rs1564634782
CA372613452
25 A>T No ClinGen
Ensembl
CA372613446
rs1421743680
26 A>T No TOPMed
gnomAD
ClinGen
rs1554848809
CA372613435
27 A>V No gnomAD
ClinGen
rs1352523419
CA372613418
30 E>K No ClinGen
TOPMed
CA372613406
rs1554848804
31 V>G No ClinGen
Ensembl
rs1012018639
CA187671686
31 V>M No TOPMed
gnomAD
ClinGen
rs1339503278
CA372613403
32 R>L No TOPMed
gnomAD
ClinGen
rs1299125683
CA372613404
32 R>W No TOPMed
gnomAD
ClinGen
CA372613398
rs1215640737
33 D>N No TOPMed
ClinGen
CA372613375
rs1272967962
36 A>V No TOPMed
ClinGen
CA372613354
rs1588689113
40 V>M No ClinGen
Ensembl
CA372613339
rs1254033214
42 A>D No TOPMed
gnomAD
ClinGen
CA187671681
rs896359924
46 A>P No ClinGen
Ensembl
CA187671680
rs1056778125
46 A>V No Ensembl
ClinGen
rs1554848797
CA372613307
47 P>L No ClinGen
gnomAD
rs1192022279
CA372613302
48 A>G No ClinGen
TOPMed
rs1192022279
CA372613301
48 A>V No TOPMed
ClinGen
rs1475811871
CA372613300
49 P>A No ClinGen
TOPMed
CA4937151
rs781837106
50 A>D No ExAC
TOPMed
gnomAD
ClinGen
CA4937152
rs781837106
50 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA187671672
rs564043345
51 P>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA372613289
rs564043345
51 P>S No 1000Genomes
TOPMed
gnomAD
ClinGen
CA372613284
rs1554848794
52 N>D No gnomAD
ClinGen
rs1393465924
CA372613281
52 N>S No TOPMed
ClinGen
CA372613252
rs1554848793
56 D>G No gnomAD
ClinGen
rs754699005
CA187671671
58 G>S No TOPMed
ClinGen
rs1319932149
CA372613227
60 G>D No TOPMed
gnomAD
ClinGen
CA372613223
rs1326468776
61 S>G No TOPMed
ClinGen
CA187671656
rs900239238
62 G>A No ClinGen
TOPMed
gnomAD
rs930349884
CA187671669
62 G>R No ClinGen
Ensembl
rs1038824413
CA187671648
63 H>P No ClinGen
TOPMed
gnomAD
CA372613200
rs1554848786
64 W>L No ClinGen
gnomAD
rs1554848784
CA372613185
66 L>P No ClinGen
gnomAD
CA4937128
rs781879438
68 C>* No ClinGen
ExAC
gnomAD
CA187668892
rs947736352
68 C>G No ClinGen
Ensembl
CA4937127
rs376209496
70 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782106785
CA4937126
70 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA187668870
rs139748401
72 Q>* No ClinGen
ESP
TOPMed
CA372613108
rs940805896
75 L>F No ClinGen
gnomAD
CA372613094
rs1210721884
77 S>I No TOPMed
gnomAD
ClinGen
CA372613095
rs1210721884
77 S>T No TOPMed
gnomAD
ClinGen
rs1449869280
CA372613090
78 S>P No TOPMed
ClinGen
rs782421322
CA4937121
83 S>N No ExAC
gnomAD
ClinGen
rs782002327
CA4937119
85 Y>* No ExAC
gnomAD
ClinGen
rs189862978
CA4937118
88 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA372612993
rs1588685465
92 C>G No ClinGen
Ensembl
CA4937117
rs782205654
93 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA372612982
rs782205654
93 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1248515808
CA372612985
93 V>L No TOPMed
gnomAD
ClinGen
rs1288363749
CA372612936
98 L>W No ClinGen
TOPMed
rs371984204
CA4937098
101 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782047240
CA372612912
102 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA372612910
rs782036173
102 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4937096
rs782036173
102 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs782047240
CA4937097
102 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1588683583
CA372612908
103 L>V No Ensembl
ClinGen
rs782257835
CA4937094
105 L>P No ExAC
gnomAD
ClinGen
rs1190139058
CA372612886
106 E>G No ClinGen
TOPMed
CA372612872
rs868936483
108 L>I No ClinGen
Ensembl
rs1554847800
CA372612862
109 I>M No ClinGen
gnomAD
CA4937075
rs781998256
111 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA372612839
rs1374506621
111 Y>H No TOPMed
ClinGen
rs1588683268
CA372612775
120 V>G No Ensembl
ClinGen
rs1356774486
CA372612780
120 V>L No TOPMed
ClinGen
CA187667413
rs147412095
123 L>V No ClinGen
ESP
TOPMed
CA372612740
rs1554847758
126 K>M No gnomAD
ClinGen
rs782096599
CA4937073
127 D>E No ExAC
TOPMed
gnomAD
ClinGen
rs782328055
CA4937072
128 P>H No ExAC
gnomAD
ClinGen
rs782328055
CA4937071
128 P>L No ClinGen
ExAC
gnomAD
CA4937069
rs782038069
130 S>G No ExAC
gnomAD
ClinGen
rs782259035
CA4937067
133 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA372612692
rs1344634935
133 A>V No TOPMed
ClinGen
rs1554847752
CA372612677
136 L>M No gnomAD
ClinGen
rs1275283451
CA372612668
137 V>A No TOPMed
ClinGen
CA372612671
rs1554847749
137 V>L No ClinGen
gnomAD
rs369275636
CA4937065
138 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4937050
rs140443241
139 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781953720
CA4937048
140 A>V No ExAC
gnomAD
ClinGen
CA4937047
rs150538509
141 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372612627
rs1474773496
142 V>A No TOPMed
ClinGen
rs1554847732
CA372612631
142 V>I No gnomAD
ClinGen
rs1554847728
CA372612605
146 A>T No ClinGen
gnomAD
CA372612595
rs1588683045
147 A>G No Ensembl
ClinGen
RCV001299994
rs782393632
CA4937044
148 F>C No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1564631871
CA372612585
149 Q>E No ClinGen
Ensembl
CA372612582
rs1554847726
149 Q>R No ClinGen
gnomAD
rs1166286615
CA372612568
151 E>G No ClinGen
TOPMed
rs55907012
RCV000455264
CA4937042
RCV001517545
152 K>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA372612555
rs1554847721
153 R>C No gnomAD
ClinGen
CA372612554
rs782459119
153 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4937041
rs782459119
153 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA372612553
rs782459119
153 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA372612547
rs1554847719
155 A>T No ClinGen
gnomAD
rs370746386
CA4937038
155 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1588682979
CA372612538
156 V>G No ClinGen
Ensembl
rs781894452
CA4937036
156 V>M No ExAC
gnomAD
ClinGen
TCGA novel 157 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1422641494
CA372612525
157 G>S No TOPMed
ClinGen
rs1554847676
CA372612519
158 A>T No ClinGen
gnomAD
rs1554847673
CA372612514
158 A>V No ClinGen
gnomAD
CA4937014
rs782534474
159 L>V No ClinGen
ExAC
gnomAD
rs530727318
CA4937013
160 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1439487383
CA372612498
161 E>D No TOPMed
ClinGen
CA372612503
rs1554847656
161 E>Q No ClinGen
gnomAD
rs1157034260
CA372612496
162 Q>K No TOPMed
ClinGen
CA4937012
rs563377054
163 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA372612482
rs1554847652
164 G>R No gnomAD
ClinGen
rs142277695
CA372612456
168 H>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4937010
rs375840448
168 H>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs144065666
CA4937008
169 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1305131804
CA372612445
170 A>V No TOPMed
ClinGen
rs1588682660
CA372612441
171 N>T No ClinGen
Ensembl
rs782041538
CA4937007
172 L>V No ExAC
TOPMed
gnomAD
ClinGen
CA372612425
rs1554847642
174 T>P No ClinGen
gnomAD
CA187667134
rs372303345
177 C>R No ESP
TOPMed
ClinGen
rs139015645
CA372612385
180 A>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4937003
rs782271176
180 A>S No ExAC
gnomAD
ClinGen
CA4937002
rs139015645
180 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372612370
rs1397098169
183 V>I No TOPMed
gnomAD
ClinGen
CA4936995
rs782648879
185 L>P No ExAC
TOPMed
gnomAD
ClinGen
rs1554847632
CA372612351
186 V>G No ClinGen
gnomAD
CA372612348
rs1554847629
187 E>K No ClinGen
gnomAD
CA372612343
rs1554847625
187 E>V No ClinGen
gnomAD
rs1564631641
CA372612337
188 S>C No ClinGen
Ensembl
rs1375938425
CA372612338
188 S>P No ClinGen
TOPMed
rs782798411
CA4936994
189 I>V No ExAC
TOPMed
gnomAD
ClinGen
CA4936992
rs782722986
190 T>I No ExAC
TOPMed
gnomAD
ClinGen
CA187667056
rs994314695
192 V>M No Ensembl
ClinGen
CA372612300
rs1554847593
193 G>S No gnomAD
ClinGen
CA372612292
rs1275617500
194 S>A No ClinGen
TOPMed
rs1221343847
CA372612273
197 A>V No TOPMed
gnomAD
ClinGen
CA372612270
rs1554847582
198 L>R No ClinGen
gnomAD
rs368297805
CA4936951
200 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1554847579
CA372612246
201 H>Q No ClinGen
gnomAD
rs782481578
CA4936949
202 T>N No ExAC
TOPMed
gnomAD
ClinGen
rs1588682296
CA372612245
202 T>P No ClinGen
Ensembl
CA4936948
rs781816553
203 I>V No ExAC
gnomAD
ClinGen
CA4936946
rs782559118
204 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 205 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 205 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554847572
CA372612207
208 L>I No gnomAD
ClinGen
rs142970193
RCV001309677
CA4936945
209 F>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138248019
CA4936943
210 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936940
rs150434452
212 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs373569005
CA4936938
212 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936936
rs782137876
213 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 214 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1455600
rs377729741
CA4936935
214 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4936933
rs782209618
217 W>* No ExAC
gnomAD
ClinGen
rs782360151
CA4936934
217 W>R No ExAC
ClinGen
rs781947496
CA4936932
218 C>F No ExAC
gnomAD
ClinGen
rs782313741
CA4936931
219 R>C No ExAC
gnomAD
ClinGen
CA4936930
rs782303747
219 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs782313741
CA372612138
219 R>S No ExAC
gnomAD
ClinGen
COSM310540
rs782671953
CA4936929
220 R>G lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA372612131
rs1554847559
220 R>T No ClinGen
gnomAD
rs1285605631
CA372612128
221 A>T No ClinGen
TOPMed
gnomAD
CA187666743
rs890035654
222 R>G No TOPMed
ClinGen
CA372612121
rs1213164340
222 R>K No ClinGen
TOPMed
CA372612116
rs1554847558
COSM1132812
223 A>T Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA4936928
rs782500416
224 K>E No ExAC
TOPMed
gnomAD
ClinGen
CA4936897
rs782452538
227 S>F No ExAC
TOPMed
gnomAD
ClinGen
CA372612059
rs1403139054
230 K>R No TOPMed
ClinGen
CA4936894
rs782148617
231 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA4936893
rs781875216
231 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs782733856 231 K>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA4936891
rs140478833
232 A>T No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA4936890
rs782740287
233 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs370182734
CA187666531
233 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs1554847519
CA372612039
233 S>R No gnomAD
ClinGen
rs1554847518
CA372612029
235 A>P No ClinGen
gnomAD
CA4936889
rs782078569
235 A>V No ClinGen
ExAC
gnomAD
CA187666502
rs935852307
236 A>T No ClinGen
gnomAD
rs1554847515
CA372612023
236 A>V No ClinGen
gnomAD
rs373467033
RCV001341598
CA4936887
238 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
ClinVar
dbSNP
CA372612012
rs1554847514
238 P>S No gnomAD
ClinGen
CA4936886
rs782161523
239 H>P No ClinGen
ExAC
gnomAD
CA4936884
rs782391605
241 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA372611987
rs782238113
242 S>I No ExAC
gnomAD
ClinGen
CA4936883
rs782238113
242 S>N No ClinGen
ExAC
gnomAD
CA4936882
rs146322937
243 Y>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4936881
rs367844653
244 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs782569114
CA4936879
246 N>S No ClinGen
ExAC
gnomAD
rs1476738638
CA372611956
247 L>V No TOPMed
ClinGen
CA372611948
rs55962377
248 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000455982
RCV001510557
rs55962377
CA4936878
248 T>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs55962377
CA372611949
248 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782707652 250 R>= Variant assessed as Somatic; 5.697e-05 impact. [NCI-TCGA] No NCI-TCGA
CA4936876
rs144473757
250 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144473757
CA372611938
250 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936875
rs782187957
250 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4936874
rs782187957
250 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs782043842
CA4936872
251 D>N No ExAC
TOPMed
gnomAD
ClinGen
CA4936850
rs781822558
252 L>F No ClinGen
ExAC
gnomAD
CA372611916
rs1554847477
252 L>P No ClinGen
gnomAD
rs782501227
CA4936849
255 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs782046312
CA4936848
255 F>Y No ExAC
TOPMed
gnomAD
ClinGen
rs782802515
CA4936846
256 L>F No ExAC
gnomAD
ClinGen
RCV001302410
rs144983092
CA4936844
258 A>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782187728
CA4936842
260 T>N No ExAC
TOPMed
gnomAD
ClinGen
CA372611751
rs1342245507
264 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs146196839
CA4936837
RCV000483585
266 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA372611696
rs1218270729
267 F>V No ClinGen
TOPMed
rs1487655734
CA372611666
268 P>L No ClinGen
TOPMed
gnomAD
rs141523495
CA4936836
268 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936834
rs139792712
269 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781791106
CA187666243
270 S>F No ClinGen
ExAC
gnomAD
CA4936833
rs781791106
270 S>Y No ExAC
gnomAD
ClinGen
rs782804473
CA4936832
271 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA372611627
rs782804473
271 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs782553235
CA4936831
272 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs1554847442
CA372611617
272 R>H No gnomAD
ClinGen
CA4936829
rs146155230
273 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936830
rs781882807
273 I>T No ExAC
gnomAD
ClinGen
CA4936826
rs782702737
274 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199537660
CA4936828
274 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4936825
rs782152635
275 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA4936824
rs376764170
276 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA187666228
rs1044230336
276 R>H No gnomAD
ClinGen
CA4936823
rs782383355
280 R>Q No ExAC
gnomAD
ClinGen
rs781969331
CA4936821
281 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4936822
rs782247930
281 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1333447982
CA372611498
282 I>V No ClinGen
TOPMed
gnomAD
CA4936792
rs782250375
289 T>I No ExAC
gnomAD
ClinGen
CA372610060
rs782349298
290 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA4936790
rs782349298
290 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1588681427
CA372610006
293 V>G No ClinGen
Ensembl
CA4936788
rs782679330
293 V>M No ClinGen
ExAC
gnomAD
CA372610001
rs1255944622
294 G>R No TOPMed
ClinGen
CA372609870
rs1554847371
299 W>R No ClinGen
gnomAD
rs782593895
CA4936767
301 V>G No ExAC
gnomAD
ClinGen
CA4936764
rs782684202
303 T>P No ClinGen
ExAC
gnomAD
rs782541395
CA4936763
304 I>L No ExAC
ClinGen
CA4936762
rs781874038
304 I>T No ClinGen
ExAC
rs1002226053
CA187664686
305 Q>* No gnomAD
ClinGen
rs750514290
TCGA novel
CA187664681
305 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TOPMed
ClinGen
CA4936761
rs782768563
306 N>K No ClinGen
ExAC
CA4936759
rs781830211
310 P>L No ExAC
gnomAD
ClinGen
rs1298473057
CA372609688
310 P>S No ClinGen
TOPMed
gnomAD
rs1221062147
CA372609645
312 K>N No ClinGen
TOPMed
rs782751829
CA372609588
313 D>N No ExAC
gnomAD
ClinGen
rs782751829
CA4936747
313 D>Y No ExAC
gnomAD
ClinGen
rs1554847343
CA372609565
314 M>T No gnomAD
ClinGen
rs782508433
CA4936746
318 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs782127562
CA187664632
318 R>H No ClinGen
Ensembl
CA372609493
rs1400043688
319 I>V No ClinGen
TOPMed
CA372609465
rs782019712
320 I>M No ExAC
gnomAD
ClinGen
CA4936743
rs782473207
321 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs781798132
CA4936742
322 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs1315358048
CA372609441
322 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs1588681106
CA372609399
325 K>R No ClinGen
Ensembl
CA4936738
rs782741298
326 L>Q No ClinGen
ExAC
gnomAD
rs143753756 327 A>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA187664588
rs782806278
327 A>G No Ensembl
ClinGen
TCGA novel 330 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554847296
CA372609256
331 H>R No ClinGen
gnomAD
CA372609219
rs1157666041
333 I>M No TOPMed
ClinGen
CA372609232
rs1554847295
333 I>V No gnomAD
ClinGen
TCGA novel 334 W>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782741492
CA4936709
335 L>F No ClinGen
ExAC
gnomAD
rs782090603
CA4936708
336 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4936706
rs782321541
337 F>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA4936705
rs149384210
337 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA372609164
rs782321541
337 F>V No ExAC
TOPMed
gnomAD
ClinGen
CA372609135
rs1452388257
338 F>L No TOPMed
ClinGen
rs1554847292
CA372609142
338 F>S No gnomAD
ClinGen
rs782575471
RCV000486981
338 F>missing No ClinVar
dbSNP
rs782372012
CA4936703
339 Y>F No ExAC
ClinGen
CA4936701
rs782220518
340 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA372609115
rs1379566453
340 W>G No TOPMed
ClinGen
CA372609063
rs1554847289
343 H>D No ClinGen
gnomAD
CA372609058
rs1554847288
343 H>R No ClinGen
gnomAD
rs782605020
CA4936700
346 L>P No ClinGen
ExAC
gnomAD
rs372199680
CA4936698
349 V>M No ClinGen
ESP
ExAC
gnomAD
CA372608967
rs1554847284
350 A>T No ClinGen
TOPMed
rs1554847283
CA372608939
352 L>P No ClinGen
gnomAD
rs1015415172
CA187664448
353 M>L No ClinGen
gnomAD
rs1220974369
CA372608927
353 M>R No ClinGen
TOPMed
gnomAD
CA372608919
rs1279269744
354 Q>* No TOPMed
ClinGen
rs782538538
CA4936696
354 Q>R No ExAC
TOPMed
gnomAD
ClinGen
rs1004476805
CA187664430
357 D>N No Ensembl
ClinGen
CA4936695
rs374729844
358 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372608865
rs1554847278
358 R>W No gnomAD
ClinGen
CA4936693
rs782498938
361 Y>C No ClinGen
ExAC
gnomAD
rs138800445
CA372608814
362 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138800445
CA4936691
362 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4936692
rs781826408
362 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA372608808
rs1554847271
363 D>Y No ClinGen
gnomAD
CA372608672
rs1245682495
368 E>K No TOPMed
gnomAD
ClinGen
CA4936662
rs782702763
370 V>I No ClinGen
ExAC
gnomAD
CA4936661
rs782156730
371 T>I No ExAC
gnomAD
ClinGen
rs1554847242
CA372608603
372 Y>C No ClinGen
gnomAD
TCGA novel 373 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4936660
rs782015251
374 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA4936659
rs782781880
375 Q>* No ExAC
gnomAD
ClinGen
rs1554847239
CA372608507
377 W>* No ClinGen
gnomAD
rs782118993
CA4936658
377 W>R No ExAC
gnomAD
ClinGen
CA187664235
rs1802327
378 N>K No Ensembl
ClinGen
rs146441969
CA4936657
380 P>L No ClinGen
ESP
ExAC
gnomAD
CA4936656
rs782347377
381 V>A No ExAC
gnomAD
ClinGen
CA4936655
rs782198587
385 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA372608307
rs1554847202
388 H>L No ClinGen
gnomAD
rs782749127
CA4936636
388 H>Y No ExAC
TOPMed
gnomAD
ClinGen
CA4936635
rs782087919
390 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554847198
CA372608289
391 K>E No ClinGen
gnomAD
rs1316105193
CA372608270
393 M>V No ClinGen
TOPMed
gnomAD
CA4936634
rs372817613
395 R>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4936633
rs782164877
395 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4936632
rs782164877
395 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs193169779
CA372608244
396 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs193169779
CA4936630
396 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs375843442
CA4936631
396 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1554847196
CA372608238
397 G>S No ClinGen
gnomAD
CA372608225
rs1286186671
398 S>R No ClinGen
TOPMed
rs782091446
CA4936629
399 S>T No ExAC
TOPMed
gnomAD
ClinGen
CA372608189
rs1554847192
402 M>I No gnomAD
ClinGen
CA372608194
rs1205104526
402 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA372608195
rs1205104526
402 M>V No TOPMed
gnomAD
ClinGen
rs781948192
CA4936628
403 A>S No ClinGen
ExAC
gnomAD
CA4936627
rs782323808
404 R>G No ExAC
gnomAD
ClinGen
CA4936626
rs782179106
405 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4936624
rs377582872
406 G>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782641412
CA4936620
407 V>A No ExAC
gnomAD
ClinGen
CA372608154
rs782641412
407 V>G No ClinGen
ExAC
gnomAD
rs1180732436
CA372608138
409 L>P No TOPMed
ClinGen
rs1554847183
CA372608133
410 A>P No gnomAD
ClinGen
CA372608132
rs1554847183
410 A>T No ClinGen
gnomAD
rs573410614
CA4936618
411 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
TCGA novel 411 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453106665
CA372608115
412 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA4936615
rs781911802
413 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs782802659
CA4936614
414 F>L No ClinGen
ExAC
gnomAD
CA4936613
rs782136994
414 F>L No ExAC
gnomAD
ClinGen
CA372608101
rs782802659
414 F>V No ExAC
gnomAD
ClinGen
rs1335759761
CA372608087
416 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs782116263
CA4936589
417 Y>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1554847146
CA372608049
419 V>L No gnomAD
ClinGen
CA16605211
rs372051069
RCV000436889
420 S>R No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782744860
CA4936587
421 V>D No ExAC
TOPMed
gnomAD
ClinGen
rs1554847144
CA372608034
421 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA372608024
rs1554847140
422 P>L No ClinGen
gnomAD
CA4936584
rs782420668
424 R>* No ExAC
gnomAD
ClinGen
rs782420668
CA372608010
424 R>G No ExAC
gnomAD
ClinGen
CA372608008
rs782284944
424 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4936583
rs782284944
424 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1588680098
CA372607990
426 F>S No ClinGen
Ensembl
CA187663961
rs782354909
427 R>C No TOPMed
gnomAD
ClinGen
rs147655123
CA4936582
427 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA4936581
rs782381938
428 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA372607969
rs1554847135
429 W>G No ClinGen
gnomAD
rs1554847132
CA372607957
430 A>V No ClinGen
gnomAD
CA372607942
rs369376240
432 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4936579
rs369376240
432 T>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs918197083
CA187663941
433 G>D No TOPMed
ClinGen
rs1427058220
CA372607929
434 M>L No ClinGen
TOPMed
gnomAD
rs1554847124
CA372607927
434 M>T No gnomAD
ClinGen
CA372607902
rs1564630278
437 Q>* No Ensembl
ClinGen
CA372607884
rs1554847075
438 I>V No ClinGen
gnomAD
rs1554847073
CA372607874
439 P>L No ClinGen
gnomAD
rs782802480
CA4936547
439 P>S No ClinGen
ExAC
gnomAD
CA4936544
rs782395919
442 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs367717255
CA4936542
444 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs782199338
CA4936540
446 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs782420067
CA4936539
446 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs782420067
CA4936538
446 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA372607818
rs782420067
446 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs782199338
CA372607820
446 R>S No ExAC
TOPMed
gnomAD
ClinGen
CA4936536
rs140874999
448 F>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 448 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554847066
CA372607794
449 Q>R No ClinGen
gnomAD
CA372607788
rs868942419
450 G>S No ClinGen
TOPMed
rs781828606
CA4936534
450 G>V No ClinGen
ExAC
gnomAD
rs782542875
CA4936532
452 Y>C No ExAC
TOPMed
gnomAD
ClinGen
rs782769518
CA372607764
453 G>A No ClinGen
ExAC
gnomAD
CA4936530
rs782769518
453 G>D No ExAC
gnomAD
ClinGen
rs1345060234
CA372607768
453 G>S No ClinGen
TOPMed
gnomAD
rs984784208
CA187663607
455 A>E No ClinGen
gnomAD
rs1452091909
CA372607752
455 A>T No TOPMed
gnomAD
ClinGen
rs1554847063
CA372607739
456 A>V No gnomAD
ClinGen
rs1554847060
CA372607733
457 V>A No ClinGen
TOPMed
rs782739596
CA4936527
458 W>* No ExAC
gnomAD
ClinGen
rs1339186687
CA372607723
458 W>S No ClinGen
TOPMed
gnomAD
rs1564630093
CA372607715
459 L>P No ClinGen
Ensembl
rs782201907
CA187663599
460 S>L No ClinGen
gnomAD
rs781932849
CA4936525
461 L>F No ClinGen
ExAC
gnomAD
CA4936524
rs782407267
461 L>P No ClinGen
ExAC
gnomAD
CA372607690
rs1554847046
462 I>M No ClinGen
gnomAD
CA372607696
rs1554847048
462 I>V No ClinGen
gnomAD
rs781984067
CA4936522
463 I>V No ExAC
gnomAD
ClinGen
rs782201166
CA4936520
464 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA372607653
rs1224362971
467 I>T No TOPMed
ClinGen
rs782330158
CA4936518
468 A>T No ClinGen
ExAC
gnomAD
rs782689595
CA4936516
469 V>I No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 471 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA372607624
rs1554847035
471 M>V No gnomAD
ClinGen
CA4936513
rs782605643
473 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1031073510
CA187663524
475 D>E No Ensembl
ClinGen
rs782726552
CA4936510
476 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA372607584
rs1554847030
476 Y>H No ClinGen
gnomAD
CA372607572
rs782526221
477 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs543553010
CA4936508
479 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA372607542
rs1554847027
481 Y>C No ClinGen
gnomAD
CA4936505
rs200430497
RCV001729745
RCV000914877
485 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4936502
rs782043081
487 E>G No ClinGen
ExAC
gnomAD
CA372607505
rs868957042
487 E>K No ClinGen
gnomAD
CA4936501
rs782022899
488 A>T No ClinGen
ExAC
gnomAD

1 associated diseases with O75907

[MIM: 615863]: Diarrhea 7, protein-losing enteropathy type (DIAR7)

A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A life-threatening disease characterized by severe, intractable, watery diarrhea. {ECO:0000269|PubMed:23114594, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for O75907

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O75907

Functions

Description
EC Number 2.3.1.20 Transferring groups other than amino-acyl groups
Subcellular Localization
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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.
specific granule membrane The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

6 GO annotations of molecular function

Name Definition
2-acylglycerol O-acyltransferase activity Catalysis of the reaction: acyl-CoA + 2-acylglycerol = CoA + diacylglycerol.
acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor).
diacylglycerol O-acyltransferase activity Catalysis of the reaction: acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol.
identical protein binding Binding to an identical protein or proteins.
O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule.
retinol O-fatty-acyltransferase activity Catalysis of the reaction: acyl-CoA + retinol = CoA + retinyl ester.

8 GO annotations of biological process

Name Definition
diacylglycerol metabolic process The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group.
fatty acid homeostasis Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell.
lipid storage The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
long-chain fatty-acyl-CoA metabolic process The chemical reactions and pathways involving long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more.
monoacylglycerol biosynthetic process The chemical reactions and pathways resulting in the formation of monoacylglycerol, any ester of glycerol in which any one of its hydroxyl groups has been acylated with a fatty acid, the other being non-esterified.
triglyceride biosynthetic process The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol.
triglyceride metabolic process The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins.
very-low-density lipoprotein particle assembly The non-covalent aggregation and arrangement of proteins and lipids in the liver to form a very-low-density lipoprotein particle.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8MK44 DGAT1 Diacylglycerol O-acyltransferase 1 Bos taurus (Bovine) PR
P35610 SOAT1 Sterol O-acyltransferase 1 Homo sapiens (Human) PR
O88908 Soat2 Sterol O-acyltransferase 2 Mus musculus (Mouse) PR
Q9Z2A7 Dgat1 Diacylglycerol O-acyltransferase 1 Mus musculus (Mouse) PR
Q9ERM3 Dgat1 Diacylglycerol O-acyltransferase 1 Rattus norvegicus (Rat) PR
Q9SLD2 DGAT1 Diacylglycerol O-acyltransferase 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MGDRGSSRRR RTGSRPSSHG GGGPAAAEEE VRDAAAGPDV GAAGDAPAPA PNKDGDAGVG
70 80 90 100 110 120
SGHWELRCHR LQDSLFSSDS GFSNYRGILN WCVVMLILSN ARLFLENLIK YGILVDPIQV
130 140 150 160 170 180
VSLFLKDPYS WPAPCLVIAA NVFAVAAFQV EKRLAVGALT EQAGLLLHVA NLATILCFPA
190 200 210 220 230 240
AVVLLVESIT PVGSLLALMA HTILFLKLFS YRDVNSWCRR ARAKAASAGK KASSAAAPHT
250 260 270 280 290 300
VSYPDNLTYR DLYYFLFAPT LCYELNFPRS PRIRKRFLLR RILEMLFFTQ LQVGLIQQWM
310 320 330 340 350 360
VPTIQNSMKP FKDMDYSRII ERLLKLAVPN HLIWLIFFYW LFHSCLNAVA ELMQFGDREF
370 380 390 400 410 420
YRDWWNSESV TYFWQNWNIP VHKWCIRHFY KPMLRRGSSK WMARTGVFLA SAFFHEYLVS
430 440 450 460 470 480
VPLRMFRLWA FTGMMAQIPL AWFVGRFFQG NYGNAAVWLS LIIGQPIAVL MYVHDYYVLN
YEAPAAEA