O43315
PR
Gene name |
AQP9 (SSC1) |
Protein name |
Aquaporin-9 |
Names |
AQP-9, Aquaglyceroporin-9, Small solute channel 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:366 |
EC number |
|
Protein Class |
|
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 O43315
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43315-F1 | Predicted | AlphaFoldDB |
323 variants for O43315
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1324433170 CA392791581 |
5 | G>* | No |
ClinGen TOPMed |
|
|
rs542588358 CA7584308 |
6 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246475046 CA392791623 |
8 | K>N | No |
ClinGen gnomAD |
|
|
rs1303079140 CA392791620 |
8 | K>R | No |
ClinGen TOPMed |
|
|
rs150714814 CA7584309 |
9 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA392791635 rs1389846412 |
10 | K>E | No |
ClinGen TOPMed |
|
|
CA392791647 rs1467238345 |
11 | S>G | No |
ClinGen TOPMed |
|
|
rs752868547 CA7584310 |
11 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271358902 rs375764372 |
15 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392791710 rs1259505160 |
16 | L>P | No |
ClinGen gnomAD |
|
|
CA392791719 rs756348851 |
17 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584311 rs756348851 |
17 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271358903 rs780293096 |
22 | L>F | No |
ClinGen Ensembl |
|
|
rs192641731 CA392791788 |
23 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7584312 COSM1373759 rs192641731 |
23 | A>V | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7584314 rs757843275 |
26 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7584315 rs370409793 |
27 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7584316 rs145699280 |
27 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370409793 CA271358904 |
27 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772510173 CA7584317 CA7584318 |
29 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392791861 rs1162878848 |
29 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7584320 rs768398839 |
30 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA392791884 COSM963328 rs768398839 |
30 | F>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7584321 rs768398839 |
30 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs374114909 CA271358906 |
31 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA7584323 rs755358483 |
33 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1354423975 CA392791948 |
34 | F>S | No |
ClinGen gnomAD |
|
|
CA392791942 rs1313232545 |
34 | F>V | No |
ClinGen gnomAD |
|
|
CA7584326 rs766123835 |
35 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1279511159 CA392791966 |
35 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7584325 rs762758578 |
35 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228740558 CA392791979 |
36 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7584342 rs749264809 |
38 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs553727841 CA7584343 |
40 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 40 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7584344 rs553727841 |
40 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260380235 CA392793981 |
42 | G>S | No |
ClinGen TOPMed |
|
|
CA271361562 rs915261825 |
42 | G>V | No |
ClinGen gnomAD |
|
|
CA7584346 rs77284866 |
43 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs776663420 CA7584347 |
44 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1219835683 CA392793994 |
44 | V>F | No |
ClinGen TOPMed |
|
|
CA392793997 rs776663420 |
44 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7584348 rs761978670 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1317811588 CA392794021 |
48 | I>T | No |
ClinGen TOPMed |
|
|
CA392794027 rs1360755742 |
49 | L>H | No |
ClinGen gnomAD |
|
|
rs758705317 CA7584349 |
50 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM278926 CA7584351 rs370192849 |
51 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA392794038 rs751975709 |
51 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584353 rs751975709 |
51 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7584354 rs755335239 |
52 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA271361563 rs1042353446 |
53 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA392794045 rs1042353446 |
53 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7584356 rs147206102 |
53 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA271361564 rs140513412 |
55 | G>A | No |
ClinGen ESP |
|
|
rs1422787892 CA392794057 |
55 | G>R | No |
ClinGen TOPMed |
|
|
CA7584359 rs748783905 |
56 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479009132 CA392794071 |
57 | V>A | No |
ClinGen TOPMed |
|
|
rs1479009132 CA392794070 |
57 | V>G | No |
ClinGen TOPMed |
|
|
CA271361565 rs201633890 |
59 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778758728 CA7584361 |
59 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392794085 rs1452564766 |
60 | I>V | No |
ClinGen gnomAD |
|
|
rs1180276406 CA392794092 |
61 | N>D | No |
ClinGen gnomAD |
|
|
rs776947032 CA7584364 |
61 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs776947032 CA392794095 |
61 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199618548 CA392794101 |
62 | V>A | No |
ClinGen TOPMed |
|
|
CA271361566 rs939599134 |
62 | V>I | No |
ClinGen Ensembl |
|
|
rs750086347 CA271361567 |
63 | G>A | No |
ClinGen Ensembl |
|
|
rs1156528283 CA392794118 |
65 | S>A | No |
ClinGen gnomAD |
|
|
rs770039963 CA7584367 |
66 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7584366 rs761985517 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327097703 CA392794138 |
68 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 68 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327097703 CA392794139 |
68 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773489828 CA7584368 |
69 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584370 rs763056632 |
72 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs767004480 CA7584371 |
73 | Y>D | No |
ClinGen ExAC |
|
|
rs767004480 CA392794168 |
73 | Y>H | No |
ClinGen ExAC |
|
|
CA7584374 COSM963329 rs752063676 |
75 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7584375 rs567455344 |
76 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536480649 CA7584377 |
77 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536480649 CA7584376 COSM267887 |
77 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1272699689 CA392794193 |
77 | G>V | No |
ClinGen gnomAD |
|
|
CA7584395 rs753071847 |
80 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753071847 CA7584394 |
80 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763752290 CA7584396 |
81 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763752290 CA7584397 |
81 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA392789330 rs1475094763 |
82 | H>L | No |
ClinGen Ensembl |
|
|
CA7584398 rs756795091 |
83 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7584400 rs374762465 |
84 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1353569814 CA392789342 |
84 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392789343 rs1353569814 |
84 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 85 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7584401 rs528038229 |
87 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1348749454 CA392789359 |
87 | V>L | No |
ClinGen TOPMed |
|
|
CA392789358 rs1348749454 |
87 | V>M | No |
ClinGen TOPMed |
|
|
rs746791248 CA7584403 |
90 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA7584404 rs754752020 |
91 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs778171615 CA7584405 |
92 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348362233 CA392789400 |
93 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs771256450 CA7584407 |
95 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs745957752 CA7584409 COSM1708229 |
96 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200266534 CA7584408 COSM2219385 |
96 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1271031404 CA392789428 |
98 | K>E | No |
ClinGen TOPMed |
|
|
CA7584410 rs200885186 |
99 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200885186 CA392789439 |
99 | W>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7584411 rs776009788 |
101 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs367800620 CA7584412 |
102 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7584413 rs764405170 |
103 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761507848 CA7584415 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7584414 rs776953557 |
105 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1263690442 CA392789484 |
106 | V>L | No |
ClinGen TOPMed |
|
|
COSM1708231 rs764860980 CA7584416 |
107 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1019361883 CA271362218 |
108 | A>S | No |
ClinGen Ensembl |
|
|
rs1383484575 CA392789500 |
109 | Q>* | No |
ClinGen gnomAD |
|
|
rs1428502898 CA392789506 COSM69698 |
109 | Q>H | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1325952020 CA392789502 |
109 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7584418 rs757863863 |
110 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392789510 rs757863863 |
110 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319422024 CA392789519 |
111 | L>F | No |
ClinGen gnomAD |
|
|
CA392789515 rs1277771462 |
111 | L>V | No |
ClinGen TOPMed |
|
|
rs769090915 CA7584419 |
112 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM342835 rs1278001887 CA392789529 |
113 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA392789528 rs1217237468 |
113 | A>T | No |
ClinGen TOPMed |
|
|
rs781181323 CA7584423 |
116 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA392789548 rs1444815089 |
116 | G>R | No |
ClinGen gnomAD |
|
|
CA7584424 rs747944362 |
117 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530320852 CA7584426 |
118 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7584425 rs530320852 |
118 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200107166 CA7584429 |
120 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1129167 rs200107166 CA7584428 |
120 | V>I | pancreas urinary_tract prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1159395036 CA392789589 |
123 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs747595564 CA7584430 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA392789591 rs769134578 |
124 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs769134578 CA7584431 |
124 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1463889319 CA392789601 |
125 | Y>C | No |
ClinGen TOPMed |
|
|
rs151034568 CA7584460 |
126 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763977707 CA7584462 |
127 | G>A | No |
ClinGen ExAC |
|
|
CA7584461 rs760583398 |
127 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1196740878 CA392789629 |
128 | L>V | No |
ClinGen gnomAD |
|
|
CA392789642 rs1453852901 |
129 | M>I | No |
ClinGen TOPMed |
|
|
CA392789643 COSM555404 rs1250304680 |
130 | S>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs758655755 CA7584464 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA392789690 rs1474924571 |
137 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392789691 rs1474924571 |
137 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7584467 rs367676440 |
139 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM963331 rs367676440 CA7584468 |
139 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs984474458 CA392789706 |
140 | G>E | No |
ClinGen gnomAD |
|
|
rs984474458 CA271362374 |
140 | G>V | No |
ClinGen gnomAD |
|
|
rs770151820 CA7584470 COSM383153 |
143 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs373851179 CA7584471 |
144 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392789735 rs1416194251 |
145 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7584472 rs767673037 |
146 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392789740 rs767673037 |
146 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201502001 CA7584473 |
146 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767673037 CA392789741 |
146 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392789757 rs1412366458 |
148 | F>S | No |
ClinGen gnomAD |
|
|
rs867994134 CA271362375 |
151 | Y>* | No |
ClinGen TOPMed |
|
|
rs1309747190 CA392789775 |
151 | Y>N | No |
ClinGen gnomAD |
|
|
CA7584475 rs759164964 |
152 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271362376 rs923172328 |
153 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs145164884 CA7584479 |
154 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7584478 rs760708162 |
154 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392789821 rs146866709 |
159 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM192373 rs146866709 CA7584482 |
159 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs562183896 CA7584484 |
160 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7584487 rs756649939 |
161 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752717219 CA392789831 |
161 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752717219 CA7584486 |
161 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs530907694 CA7584489 |
162 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7584488 rs530907694 |
162 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757538160 CA7584490 |
163 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA392789846 rs1290092973 |
164 | D>H | No |
ClinGen gnomAD |
|
|
CA392789855 rs1595744386 |
165 | Q>* | No |
ClinGen Ensembl |
|
|
CA271362377 rs891820591 |
165 | Q>P | No |
ClinGen Ensembl |
|
|
rs150448699 CA7584511 |
166 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392790479 rs1408250734 |
167 | V>M | No |
ClinGen gnomAD |
|
|
CA7584512 rs753424515 |
168 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7584513 rs768023705 |
170 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1463433764 CA392790495 |
170 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7584514 rs754639376 |
171 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748060438 CA7584515 |
172 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271362765 rs200634549 |
175 | I>T | No |
ClinGen Ensembl |
|
|
rs1286479256 CA392790534 |
176 | V>D | No |
ClinGen gnomAD |
|
|
CA7584518 rs142159680 |
176 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA271362766 rs199688809 |
178 | A>V | No |
ClinGen gnomAD |
|
|
CA392790555 rs2249783 |
179 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7584519 rs149268817 |
179 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392790556 rs1400358665 |
180 | F>I | No |
ClinGen TOPMed |
|
|
CA7584521 rs760847449 |
181 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584522 rs568079867 |
182 | S>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs1319918129 CA392790590 |
184 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM963333 rs1028882622 CA271362767 |
185 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA392790600 rs1180692615 |
186 | G>E | No |
ClinGen TOPMed |
|
|
CA392790606 rs17848098 |
187 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584524 rs17848098 |
187 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17848098 CA7584523 |
187 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566991149 CA392790612 |
188 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7584525 rs765768471 |
189 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7584526 rs750880003 |
190 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA392790625 rs1566991155 |
191 | L>I | No |
ClinGen Ensembl |
|
|
CA7584528 rs375430625 |
192 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA392790640 rs1413695615 |
193 | P>L | No |
ClinGen gnomAD |
|
|
CA7584530 rs530834755 |
194 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392790644 rs1172957356 |
194 | I>T | No |
ClinGen gnomAD |
|
|
CA271362768 rs530834755 |
194 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392790647 rs1355503224 |
195 | A>T | No |
ClinGen gnomAD |
|
|
rs1441698338 CA392790652 |
195 | A>V | No |
ClinGen gnomAD |
|
|
CA7584533 rs201263790 |
196 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201263790 CA7584531 |
196 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7584532 rs201263790 |
196 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770680734 CA7584537 |
197 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs527316680 CA7584536 |
197 | G>S | Variant assessed as Somatic; 0.0008316 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392790665 rs1446880521 |
198 | L>P | No |
ClinGen gnomAD |
|
|
rs1306742680 CA392790678 |
200 | I>M | No |
ClinGen gnomAD |
|
|
rs1202508861 CA392790684 |
201 | I>M | No |
ClinGen gnomAD |
|
|
CA271362769 rs370563891 |
201 | I>T | No |
ClinGen Ensembl |
|
|
rs1226596750 CA392790680 |
201 | I>V | No |
ClinGen TOPMed |
|
|
CA392790687 rs1270853437 |
202 | V>A | No |
ClinGen TOPMed |
|
|
rs199569670 CA7584540 |
202 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7584541 rs199569670 |
202 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392790691 rs1485831256 |
203 | I>F | No |
ClinGen gnomAD |
|
|
rs761975633 CA392790692 |
203 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7584542 rs761975633 |
203 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566991205 CA392790697 |
204 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA392790700 rs1235290522 |
204 | A>V | No |
ClinGen gnomAD |
|
|
CA271362770 rs137909533 |
206 | S>F | No |
ClinGen 1000Genomes ESP |
|
|
CA7584543 rs193153801 |
208 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs193153801 CA392790720 |
208 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392790725 rs1305241527 |
209 | L>P | No |
ClinGen TOPMed |
|
|
rs866639794 CA271362771 |
211 | S>N | No |
ClinGen Ensembl |
|
|
CA392790742 rs1167168400 |
212 | G>S | No |
ClinGen gnomAD |
|
|
rs1377500041 CA392790746 |
212 | G>V | No |
ClinGen gnomAD |
|
|
CA7584547 rs78314281 |
213 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs754593668 CA7584548 |
214 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392220161 CA392790755 |
214 | A>T | No |
ClinGen Ensembl |
|
|
CA7584549 rs201050566 |
215 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs925690889 CA271362772 |
215 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392790762 rs1163048673 |
215 | M>V | No |
ClinGen TOPMed |
|
|
rs564430904 CA392790773 |
216 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392790779 rs1168012945 |
217 | P>R | No |
ClinGen TOPMed |
|
|
rs755597585 CA7584551 |
218 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372374128 CA271362773 |
219 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs147222240 CA392790788 |
219 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147222240 CA7584552 |
219 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868724333 CA271362774 |
223 | P>L | No |
ClinGen Ensembl |
|
|
rs749252837 CA7584553 |
224 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7584554 rs374702384 |
226 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7584555 rs374702384 |
226 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392790844 rs1275845135 |
228 | A>V | No |
ClinGen gnomAD |
|
|
CA392790856 rs377352019 |
230 | A>E | No |
ClinGen gnomAD |
|
|
CA271362775 rs377352019 |
230 | A>G | No |
ClinGen gnomAD |
|
|
rs377352019 CA392790855 |
230 | A>V | No |
ClinGen gnomAD |
|
|
CA392790862 rs988442926 |
231 | G>D | No |
ClinGen gnomAD |
|
|
rs1384894589 CA392790860 |
231 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs988442926 CA271362776 |
231 | G>V | No |
ClinGen gnomAD |
|
|
CA7584556 rs745606946 |
232 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA392790875 rs1294548747 |
232 | W>L | No |
ClinGen gnomAD |
|
|
CA392790900 rs1595747092 |
234 | F>V | No |
ClinGen Ensembl |
|
|
rs748281967 CA7584559 |
235 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392790946 rs1187034240 |
237 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA392790944 rs1187034240 |
237 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7584560 rs770029077 |
238 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7584561 rs773379575 |
238 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1336191253 CA392792368 |
240 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392792385 rs1209616525 |
242 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 243 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268348546 CA392792402 |
244 | W>* | No |
ClinGen TOPMed |
|
|
rs1265764745 CA392792399 |
244 | W>L | No |
ClinGen gnomAD |
|
|
CA392792404 rs1439722664 |
245 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1314772498 CA392792424 |
247 | P>L | No |
ClinGen TOPMed |
|
|
CA271363257 rs371099893 |
248 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7584582 rs759858030 |
248 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774310850 CA271363258 |
249 | V>A | No |
ClinGen Ensembl |
|
|
rs767955949 CA7584583 |
250 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312962258 CA392792435 |
250 | G>R | No |
ClinGen TOPMed |
|
|
rs1457381626 CA392792442 |
251 | P>R | No |
ClinGen gnomAD |
|
|
rs775782160 CA392792439 |
251 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775782160 CA7584584 |
251 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389722091 CA392792450 |
252 | L>F | No |
ClinGen TOPMed |
|
|
CA7584585 rs143394617 |
253 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392792451 rs1320139454 |
253 | V>I | No |
ClinGen TOPMed |
|
|
rs763666523 CA7584586 |
254 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753410663 CA7584587 |
255 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375847778 CA271363260 |
257 | I>T | No |
ClinGen gnomAD |
|
|
rs1348029704 CA392792482 |
258 | G>A | No |
ClinGen gnomAD |
|
|
CA7584588 rs756773366 |
259 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7584589 rs182216973 |
260 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750410060 CA7584590 |
262 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA271363262 rs1002894992 |
264 | L>I | No |
ClinGen TOPMed |
|
|
CA271363263 rs374284559 |
265 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA7584593 rs142822245 |
266 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1274172241 CA392792536 |
267 | E>D | No |
ClinGen gnomAD |
|
|
CA7584596 rs749429402 |
271 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392792568 rs1484776680 |
272 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392792595 rs1423124389 |
276 | V>L | No |
ClinGen gnomAD |
|
|
rs778818501 CA7584598 |
278 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584599 rs1867380 VAR_024538 |
279 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 279 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1867380 CA392792615 |
279 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392792616 rs1867380 |
279 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392792621 rs1368316607 |
280 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1368316607 CA392792620 |
280 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA392792631 rs1436248708 |
281 | Q>P | No |
ClinGen gnomAD |
|
|
rs201914936 CA7584601 |
284 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA392792693 rs1380696761 |
289 | Y>* | No |
ClinGen TOPMed |
|
|
CA7584603 rs761021408 |
289 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761021408 CA392792687 |
289 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868763994 CA271363265 |
290 | E>K | No |
ClinGen Ensembl |
|
|
CA7584604 rs768351351 |
290 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs776240993 CA7584605 COSM3401847 |
291 | L>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1340272838 CA392792714 |
293 | V>L | No |
ClinGen gnomAD |
|
|
rs749847313 CA7584608 |
294 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764829595 CA7584607 |
294 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7584610 rs766415923 |
295 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762955710 CA7584609 |
295 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA392792725 rs1482970572 |
295 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7584612 rs751460577 |
296 | M>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7584611 rs751460577 |
296 | M>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O43315
1 regional properties for O43315
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Major intrinsic protein, conserved site | 82 - 90 | IPR022357 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| integral component of plasma membrane | The component of the plasma 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycerol channel activity | Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| purine nucleobase transmembrane transporter activity | Enables the transfer of purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, from one side of a membrane to the other. |
| pyrimidine nucleobase transmembrane transporter activity | Enables the transfer of pyrimidine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, from one side of a membrane to the other. |
| urea channel activity | Enables the facilitated diffusion of urea (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| urea transmembrane transporter activity | Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. |
| water channel activity | Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| amine transport | The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| canalicular bile acid transport | Enables the transfer of bile acid from one side of a hepatocyte plasma membrane into a bile canaliculus. Bile canaliculi are the thin tubes formed by hepatocyte membranes. Bile acids are any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| glycerol transmembrane transport | The directed movement of glycerol across a membrane. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. |
| purine nucleobase transport | The directed movement of purine bases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| pyrimidine nucleobase transport | The directed movement of pyrimidine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| urea transmembrane transport | The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| water transport | The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQPEGAEKGK | SFKQRLVLKS | SLAKETLSEF | LGTFILIVLG | CGCVAQAILS | RGRFGGVITI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVGFSMAVAM | AIYVAGGVSG | GHINPAVSLA | MCLFGRMKWF | KLPFYVGAQF | LGAFVGAATV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FGIYYDGLMS | FAGGKLLIVG | ENATAHIFAT | YPAPYLSLAN | AFADQVVATM | ILLIIVFAIF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSRNLGAPRG | LEPIAIGLLI | IVIASSLGLN | SGCAMNPARD | LSPRLFTALA | GWGFEVFRAG |
| 250 | 260 | 270 | 280 | 290 | |
| NNFWWIPVVG | PLVGAVIGGL | IYVLVIEIHH | PEPDSVFKTE | QSEDKPEKYE | LSVIM |