O75084
Gene name |
FZD7 |
Protein name |
Frizzled-7 |
Names |
Fz-7, hFz7, FzE3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8324 |
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
10 structures for O75084
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4Z33 | X-ray | 245 A | C/D | 569-574 | PDB |
| 5T44 | X-ray | 199 A | A/B | 31-168 | PDB |
| 5URV | X-ray | 220 A | A/B | 30-168 | PDB |
| 5WBS | X-ray | 288 A | A/B/C/D/E/F/G/H | 30-174 | PDB |
| 6NE2 | X-ray | 130 A | A | 46-163 | PDB |
| 6NE4 | X-ray | 165 A | A | 46-163 | PDB |
| 6O3A | X-ray | 210 A | E | 42-179 | PDB |
| 6O3B | X-ray | 250 A | C/H | 42-179 | PDB |
| 7EVW | EM | 322 A | R | 38-574 | PDB |
| AF-O75084-F1 | Predicted | AlphaFoldDB |
448 variants for O75084
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2059407 rs61754568 |
2 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350335906 rs1339441816 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA350335921 rs1225758862 |
6 | A>V | No |
ClinGen TOPMed |
|
|
CA2059409 rs760851152 |
9 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA350335941 rs1559184035 |
10 | L>F | No |
ClinGen Ensembl |
|
|
CA350335939 rs1559184035 |
10 | L>I | No |
ClinGen Ensembl |
|
|
CA350335942 rs1361659381 |
10 | L>R | No |
ClinGen gnomAD |
|
|
CA2059410 rs766841500 |
11 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA350335954 rs1346323424 |
12 | S>F | No |
ClinGen gnomAD |
|
|
CA64006627 rs960364984 |
12 | S>P | No |
ClinGen TOPMed |
|
|
CA64006653 rs992928365 |
15 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs201450666 CA2059413 |
16 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350335979 rs982634074 |
17 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs982634074 CA64006659 |
17 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765568446 CA2059414 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059415 rs751179155 |
19 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs913200191 CA64006665 |
19 | V>L | No |
ClinGen Ensembl |
|
|
rs978758739 CA64006689 |
21 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350336000 rs1368729594 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs35111363 CA350336014 |
24 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
VAR_049292 CA64006705 rs35111363 |
24 | G>D | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs755615030 VAR_033024 CA2059419 |
24 | G>S | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs749235803 CA2059421 |
25 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350336018 rs1202328038 |
25 | A>S | No |
ClinGen TOPMed |
|
|
rs778919859 CA2059423 |
28 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350336037 rs1339508761 |
29 | G>S | No |
ClinGen gnomAD |
|
|
rs748369771 CA2059424 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs942992895 CA64006751 |
30 | A>V | No |
ClinGen Ensembl |
|
|
rs1487949232 CA350336058 |
32 | A>V | No |
ClinGen gnomAD |
|
|
rs1189250451 CA350336066 |
33 | Q>H | No |
ClinGen gnomAD |
|
|
CA2059425 rs772362388 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1559184103 CA350336077 |
35 | Y>F | No |
ClinGen Ensembl |
|
| TCGA novel | 35 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187805781 CA350336081 |
36 | H>D | No |
ClinGen gnomAD |
|
|
CA350336084 rs1388213273 |
36 | H>R | No |
ClinGen gnomAD |
|
|
rs140084102 CA2059428 |
38 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747045136 CA2059427 |
38 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273976498 CA350336098 |
38 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 41 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350336116 rs1337389467 |
41 | I>V | No |
ClinGen TOPMed |
|
|
CA2059430 rs200796298 |
42 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA350336136 rs1434787939 |
44 | P>L | No |
ClinGen gnomAD |
|
|
CA2059432 rs775886653 |
44 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA350336140 rs1367964884 |
45 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763317919 CA2059433 |
45 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA350336155 rs1320755268 |
47 | G>A | No |
ClinGen gnomAD |
|
|
CA350336156 rs1320755268 |
47 | G>D | No |
ClinGen gnomAD |
|
|
rs933713760 CA64006828 |
47 | G>S | No |
ClinGen Ensembl |
|
|
rs755630577 CA2059436 |
48 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2059438 rs753811424 |
51 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA350336182 rs754930210 |
51 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2059439 rs754930210 |
51 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2059440 rs779007814 |
52 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758298218 CA2059442 |
54 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs747242944 CA2059444 |
55 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2059443 rs778092158 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574985408 CA350336223 |
58 | T>M | No |
ClinGen Ensembl |
|
|
rs776638713 CA2059446 |
59 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA350336233 rs1559184154 |
60 | I>V | No |
ClinGen Ensembl |
|
|
rs1292758672 CA350336240 |
61 | A>P | No |
ClinGen Ensembl |
|
|
rs746371122 CA2059447 |
61 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2059450 rs763259152 |
63 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA350336270 rs1471966906 |
65 | T>N | No |
ClinGen TOPMed |
|
|
CA350336279 rs1212605455 |
66 | I>M | No |
ClinGen TOPMed |
|
|
rs765901552 CA2059454 |
72 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs753231460 CA2059455 |
72 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs547303593 CA64006960 |
74 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547303593 CA2059456 |
74 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482347697 CA350336328 |
75 | N>I | No |
ClinGen gnomAD |
|
|
CA64006994 rs777749596 |
78 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2059459 rs758245010 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157412361 CA350336363 |
80 | G>C | No |
ClinGen gnomAD |
|
|
rs1401825150 CA350336370 |
81 | L>H | No |
ClinGen gnomAD |
|
|
CA350336374 rs1226692312 |
82 | E>* | No |
ClinGen TOPMed |
|
|
rs780544230 CA64007006 |
84 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2059463 rs368323286 |
91 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350336444 rs1293935728 |
92 | V>L | No |
ClinGen TOPMed |
|
|
CA64007029 rs745305774 |
93 | Q>R | No |
ClinGen Ensembl |
|
|
CA350336457 rs1574985474 |
94 | C>G | No |
ClinGen Ensembl |
|
|
CA2059465 rs769887663 |
96 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059466 rs780521635 |
96 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350336470 rs769887663 |
96 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401639507 CA350336477 |
97 | E>G | No |
ClinGen TOPMed |
|
|
CA350336536 rs1360444754 |
105 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA350336532 rs1157551362 |
105 | M>L | No |
ClinGen TOPMed |
|
|
CA350336542 rs1254206415 |
106 | Y>C | No |
ClinGen gnomAD |
|
|
rs776377398 CA2059472 |
106 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470744219 CA350336557 |
108 | P>L | No |
ClinGen gnomAD |
|
|
rs764888077 CA2059474 |
109 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059475 rs764888077 |
109 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757076058 CA64007134 |
117 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751252031 CA2059478 |
117 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA64007154 rs893983948 |
118 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs893983948 CA350336618 |
118 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350336617 rs1466062224 |
118 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA64007158 rs1010905016 |
121 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1010905016 CA350336635 |
121 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA64007159 COSM1293974 rs1020354758 |
122 | S>C | cervix [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA350336644 rs1020354758 |
122 | S>F | No |
ClinGen TOPMed |
|
|
rs781228423 CA2059481 |
123 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350336656 rs1230100560 |
124 | C>W | No |
ClinGen TOPMed |
|
|
CA350336652 rs1365417398 |
124 | C>Y | No |
ClinGen gnomAD |
|
|
rs1448747662 CA350336666 |
126 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756159952 CA2059482 |
128 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749785666 CA350336682 |
129 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749785666 CA2059484 |
129 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA64007187 rs964070574 |
130 | G>D | No |
ClinGen TOPMed |
|
|
CA350336702 COSM3838316 rs1438604237 |
132 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1318881499 CA350336712 |
133 | A>S | No |
ClinGen TOPMed |
|
|
rs748422280 CA2059487 |
134 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350336734 rs1194851481 |
136 | N>S | No |
ClinGen gnomAD |
|
|
rs1395850429 CA350336742 |
137 | K>M | No |
ClinGen TOPMed |
|
|
CA350336751 rs1390081657 |
138 | F>C | No |
ClinGen gnomAD |
|
|
rs776305663 CA2059489 |
142 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1029560195 CA64007211 |
144 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1322672860 CA350336810 |
147 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1304131500 CA350336826 |
149 | E>G | No |
ClinGen gnomAD |
|
|
rs1450888277 CA350336830 |
150 | N>Y | No |
ClinGen TOPMed |
|
|
rs1271936629 CA350336841 |
151 | F>Y | No |
ClinGen gnomAD |
|
|
CA2059494 rs762562271 |
157 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1287956554 CA350336880 |
157 | G>D | No |
ClinGen gnomAD |
|
|
rs1470150101 CA350336890 |
158 | E>D | No |
ClinGen gnomAD |
|
|
rs763868554 CA2059495 |
159 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA350336894 rs763868554 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1248026205 CA350336902 |
160 | C>F | No |
ClinGen gnomAD |
|
|
rs1448135519 CA350336917 |
163 | Q>* | No |
ClinGen gnomAD |
|
|
rs751543710 CA2059496 |
163 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1475553188 CA350336937 |
165 | T>M | No |
ClinGen gnomAD |
|
|
CA64007289 COSM1404552 rs185267840 |
166 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
CA350336953 rs1162322036 |
168 | G>C | No |
ClinGen gnomAD |
|
|
rs566038011 CA64007292 |
170 | G>R | No |
ClinGen gnomAD |
|
|
CA350336970 rs1215406293 |
171 | G>D | No |
ClinGen TOPMed |
|
|
rs767389004 CA350336968 |
171 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059498 rs767389004 |
171 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344501190 CA350336976 |
172 | P>L | No |
ClinGen TOPMed |
|
|
CA350336999 rs1326327915 |
176 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750610497 CA2059499 |
177 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs886860070 CA64007307 |
177 | T>N | No |
ClinGen Ensembl |
|
|
CA350337012 rs1432750092 |
178 | A>V | No |
ClinGen gnomAD |
|
|
rs1574985611 CA350337016 |
179 | Y>S | No |
ClinGen Ensembl |
|
|
CA64007337 rs909683952 |
180 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2059502 rs753849552 |
182 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350337034 rs1337223448 |
182 | A>V | No |
ClinGen gnomAD |
|
|
rs768746616 CA350337040 |
183 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768746616 CA2059504 |
183 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2059503 rs755082967 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2059506 rs758658014 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2059505 rs748736397 |
185 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778267383 CA2059507 |
187 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs745501154 CA2059508 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059509 rs769510212 |
191 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769510212 CA350337087 |
191 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350337090 rs1170465228 |
192 | A>S | No |
ClinGen TOPMed |
|
|
CA2059511 rs748764354 |
194 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350337105 rs1332197379 |
195 | P>A | No |
ClinGen gnomAD |
|
|
rs1357614849 CA350337109 |
195 | P>L | No |
ClinGen gnomAD |
|
|
VAR_033941 CA2059514 rs34908164 RCV000949888 |
196 | G>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2059513 rs774128163 |
196 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774128163 CA64007401 |
196 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767207672 CA2059515 |
197 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344920415 CA350337117 |
197 | A>V | No |
ClinGen gnomAD |
|
|
rs1574985660 CA350337140 |
201 | R>K | No |
ClinGen Ensembl |
|
|
CA350337152 rs1188265651 |
203 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350337153 rs1188265651 |
203 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2059519 rs762005854 |
203 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059521 rs765396513 |
204 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753137612 CA2059522 |
204 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA350337157 rs765396513 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759000866 CA2059523 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059524 rs769617465 |
206 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757723607 CA2059526 |
208 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1331049297 CA350337196 |
210 | C>F | No |
ClinGen gnomAD |
|
|
rs1308072780 CA350337192 |
210 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350337207 rs1434026386 |
212 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748991312 CA2059528 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350337211 rs1349481688 |
213 | Q>E | No |
ClinGen gnomAD |
|
|
CA2059529 rs768050210 |
213 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs773973498 CA2059530 |
215 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2059531 rs747629174 |
216 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA350337240 rs1367439438 |
217 | P>L | No |
ClinGen TOPMed |
|
|
CA350337237 rs1250906059 |
217 | P>S | No |
ClinGen gnomAD |
|
|
CA350337245 rs1396791730 |
218 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350337243 rs1396791730 |
218 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM26302 rs773165797 CA2059533 |
218 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA350337262 rs1352985249 |
221 | G>D | No |
ClinGen gnomAD |
|
|
rs1368373758 CA350337269 |
222 | Y>F | No |
ClinGen TOPMed |
|
|
rs1299122672 CA350337275 |
223 | R>C | No |
ClinGen gnomAD |
|
|
rs561680999 CA64007608 |
223 | R>P | No |
ClinGen Ensembl |
|
|
CA350337322 rs1306993536 |
230 | C>Y | No |
ClinGen TOPMed |
|
|
rs776801836 CA2059536 |
232 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs373396669 CA2059537 |
233 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206130077 CA350337349 |
234 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350337353 rs1251500958 |
235 | E>Q | No |
ClinGen gnomAD |
|
|
CA2059541 rs762942182 |
236 | P>L | No |
ClinGen ExAC |
|
|
CA2059543 rs752131418 |
238 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350337376 rs1432587635 |
239 | A>T | No |
ClinGen TOPMed |
|
|
CA2059546 rs370505613 |
242 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1219913507 CA350337406 |
243 | M>I | No |
ClinGen gnomAD |
|
|
CA2059548 rs778438593 |
246 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 247 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350337436 rs1368102077 |
247 | E>G | No |
ClinGen gnomAD |
|
|
CA350337433 rs747655093 |
247 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747655093 CA2059549 |
247 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1328263001 CA350337440 |
248 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1319336726 CA350337454 |
249 | E>D | No |
ClinGen gnomAD |
|
|
rs1434945843 CA350337448 |
249 | E>K | No |
ClinGen gnomAD |
|
|
CA64007735 rs374592078 |
250 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA350337478 rs1208459790 |
253 | A>S | No |
ClinGen TOPMed |
|
|
rs1295925810 CA350337479 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA64007750 rs868385707 |
254 | R>H | No |
ClinGen Ensembl |
|
|
CA2059553 rs140897513 |
255 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776466891 CA2059554 |
256 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2059555 rs759263156 |
257 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2059556 rs769990859 |
259 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2059557 rs769990859 |
259 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486923501 CA350337518 |
260 | W>* | No |
ClinGen gnomAD |
|
|
rs369157584 CA350337570 |
268 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2059563 rs369157584 |
268 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350337576 rs1559184457 |
269 | L>F | No |
ClinGen Ensembl |
|
|
rs1300922220 CA350337589 |
271 | T>A | No |
ClinGen TOPMed |
|
|
CA350337592 rs371541002 |
271 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2059564 rs371541002 |
271 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM340636 CA350337594 rs778579874 |
272 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1014990 CA2059565 rs778579874 |
272 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1412486458 CA350337609 |
274 | T>I | No |
ClinGen gnomAD |
|
|
rs757874303 CA2059567 |
277 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs375789778 CA2059568 |
279 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11546413 CA64007817 |
282 | F>L | No |
ClinGen Ensembl |
|
|
rs955853592 CA64007820 |
283 | S>T | No |
ClinGen Ensembl |
|
|
CA350337682 COSM1565150 rs1181462221 |
285 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs267599158 CA64007836 COSM24315 |
285 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA64007854 rs1039747640 |
287 | R>Q | No |
ClinGen TOPMed |
|
|
CA2059569 rs746933869 |
288 | P>R | No |
ClinGen ExAC |
|
|
CA2059571 rs781110747 |
289 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112587415 CA64007874 |
289 | I>V | No |
ClinGen gnomAD |
|
|
rs982963006 CA64007880 |
290 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA350337706 rs1180531030 |
290 | I>V | No |
ClinGen TOPMed |
|
|
CA350337747 rs1451395018 |
296 | Y>S | No |
ClinGen gnomAD |
|
|
CA350337763 rs1159226499 |
298 | M>T | No |
ClinGen gnomAD |
|
|
rs763122149 CA2059575 |
298 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341945140 COSM3933509 CA350337801 |
303 | H>Y | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA350337828 rs1559184502 |
305 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 309 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038142339 CA64007988 |
309 | L>V | No |
ClinGen TOPMed |
|
|
CA2059579 rs201306518 |
310 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1193536366 CA350337865 |
310 | E>K | No |
ClinGen gnomAD |
|
|
CA350337883 rs1300462405 |
311 | D>E | No |
ClinGen gnomAD |
|
|
rs766695859 CA2059582 |
311 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761079277 CA2059581 |
311 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766695859 CA64008016 |
311 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA350337898 COSM1404555 rs1458457825 |
313 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA350337903 rs1213097813 |
313 | A>V | No |
ClinGen gnomAD |
|
|
CA350337931 rs1171032851 |
316 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350337932 rs1171032851 |
316 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350337925 COSM1014992 rs1202884817 |
316 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs962532274 CA64008028 |
318 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs376375888 CA350337982 |
321 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2059586 rs201094355 COSM3391398 |
322 | D>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2059587 rs756791088 |
323 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2059590 rs755903607 |
326 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350338030 rs755903607 |
326 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA64008096 rs373015204 |
328 | A>E | No |
ClinGen ESP TOPMed |
|
|
rs1399375323 CA350338043 |
328 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356099942 CA350338109 |
334 | E>G | No |
ClinGen gnomAD |
|
|
CA350338115 rs1263109646 |
335 | G>S | No |
ClinGen TOPMed |
|
|
rs981229079 CA64008121 |
335 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2059595 COSM719737 rs768936211 |
338 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748190045 CA2059597 |
339 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350338156 rs748190045 |
339 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | F>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2059601 rs766751333 |
347 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059602 rs776802145 |
348 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA64008179 rs964122959 |
349 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350338267 rs964122959 |
349 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs996855105 CA64008184 |
352 | I>M | No |
ClinGen Ensembl |
|
|
CA350338316 rs1395116969 |
353 | W>C | No |
ClinGen gnomAD |
|
|
CA2059606 rs751230509 |
355 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763695398 CA2059605 |
355 | V>I | No |
ClinGen ExAC |
|
|
CA350338365 rs1165837627 |
358 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421184136 CA350338391 |
361 | W>C | No |
ClinGen gnomAD |
|
|
CA64008196 rs1052627983 |
361 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350338417 rs144653732 |
364 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs144653732 CA64008216 |
364 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2059608 rs766972889 |
366 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA350338449 rs1208720088 |
367 | M>I | No |
ClinGen TOPMed |
|
|
CA350338441 rs1326702622 |
367 | M>L | No |
ClinGen gnomAD |
|
|
rs1559184602 CA350338502 |
372 | E>V | No |
ClinGen Ensembl |
|
|
rs1483210850 COSM4139188 CA350338525 |
375 | E>* | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA350338531 rs1272206298 |
376 | A>T | No |
ClinGen gnomAD |
|
|
CA350338538 rs1340237363 |
377 | N>D | No |
ClinGen gnomAD |
|
|
CA350338537 rs1340237363 |
377 | N>H | No |
ClinGen gnomAD |
|
|
CA350338546 rs1271603959 |
378 | S>P | No |
ClinGen gnomAD |
|
|
rs1574985957 CA350338578 |
382 | H>P | No |
ClinGen Ensembl |
|
|
rs749054651 CA2059613 |
383 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2059614 rs754845922 |
384 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059616 rs202180353 |
385 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163977982 CA350338612 |
388 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM70843 CA2059619 rs747123860 |
390 | A>T | ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA350338666 rs1380670871 |
393 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs149352549 CA2059621 |
394 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350338679 rs1327270604 |
395 | T>A | No |
ClinGen gnomAD |
|
|
CA350338687 rs1291635079 |
396 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1291635079 CA350338689 |
396 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1376413817 CA350338718 |
399 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2059626 rs767037777 |
400 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760267744 CA2059628 |
401 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2059627 rs749838885 |
401 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2059629 rs766182243 |
403 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1488988626 CA350338760 |
403 | D>G | No |
ClinGen gnomAD |
|
|
CA64008382 rs868238478 |
405 | D>N | No |
ClinGen Ensembl |
|
|
rs138410404 CA350338786 |
406 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138410404 CA2059630 |
406 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754790390 CA2059631 |
407 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs778919951 CA2059632 |
408 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059634 rs376228466 CA64008403 |
409 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC gnomAD NCI-TCGA |
|
rs747019981 CA2059636 |
410 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350338826 rs747019981 |
410 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377495934 CA350338849 |
412 | Y>* | No |
ClinGen gnomAD |
|
|
CA350338842 rs1351203371 |
412 | Y>H | No |
ClinGen TOPMed |
|
|
CA350338867 rs1415784012 |
414 | G>A | No |
ClinGen gnomAD |
|
|
CA2059639 rs139393561 |
417 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2059641 rs775888500 |
420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770136662 CA2059640 |
420 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763382154 CA2059642 |
422 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2059643 rs771586697 |
425 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs139806141 CA64008443 |
431 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA2059646 rs765955164 |
432 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753824459 CA2059647 |
433 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2059648 rs759605888 |
434 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs945271936 CA64008455 |
435 | I>M | No |
ClinGen TOPMed |
|
|
CA2059649 rs559202385 |
435 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 436 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171767397 CA350339061 |
437 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2059653 rs777808101 |
446 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059652 rs777808101 |
446 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350339171 rs1370906276 |
447 | L>F | No |
ClinGen gnomAD |
|
|
rs1559184707 CA350339188 |
448 | F>L | No |
ClinGen Ensembl |
|
|
CA2059655 rs781312452 |
449 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA350339205 rs1237684776 |
450 | I>S | No |
ClinGen TOPMed |
|
|
CA2059656 rs746357590 |
451 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233571370 CA350339215 |
452 | T>S | No |
ClinGen gnomAD |
|
|
rs1209287192 CA350339232 |
454 | M>T | No |
ClinGen TOPMed |
|
|
CA64008585 rs146693247 |
458 | G>V | No |
ClinGen ESP |
|
|
rs780572956 CA2059658 |
461 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780572956 CA64008590 |
461 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2059659 rs749570044 |
462 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 465 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 468 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350339339 rs1574986084 |
469 | V>G | No |
ClinGen Ensembl |
|
|
CA64008616 rs772230105 |
469 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 471 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 473 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201191053 CA350339360 |
473 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201191053 CA2059660 |
473 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2059661 rs772709570 |
475 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350339428 rs1168789891 |
483 | T>I | No |
ClinGen gnomAD |
|
|
rs776225705 CA2059664 |
484 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2059663 rs770553279 |
484 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2059665 rs759120037 |
486 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350339442 rs1226633427 |
486 | L>P | No |
ClinGen TOPMed |
|
|
CA64008634 VAR_033942 rs35600847 |
487 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1350289407 CA350339452 |
488 | C>Y | No |
ClinGen TOPMed |
|
|
CA350339461 rs1284972017 |
489 | Y>C | No |
ClinGen TOPMed |
|
|
rs1372601818 CA350339457 |
489 | Y>N | No |
ClinGen gnomAD |
|
|
rs765225022 CA2059666 |
490 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201452450 CA64008662 |
491 | Y>H | No |
ClinGen Ensembl |
|
|
CA2059667 rs775589753 |
493 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2059668 rs762632983 |
494 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436477460 CA350339499 |
495 | F>L | No |
ClinGen TOPMed |
|
|
CA350339523 rs1258416034 |
498 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA350339546 rs1334110194 |
501 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1029625624 CA64008755 |
509 | K>E | No |
ClinGen Ensembl |
|
|
CA350339622 rs1356408833 |
511 | Y>* | No |
ClinGen gnomAD |
|
|
rs751432827 CA2059675 |
511 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541873049 CA2059677 |
512 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2059676 rs541873049 |
512 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350339638 rs1188964012 |
514 | P>L | No |
ClinGen TOPMed |
|
|
rs1287718003 CA350339647 |
516 | P>A | No |
ClinGen gnomAD |
|
|
CA350339652 rs1253159878 |
516 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1213783275 CA350339658 |
517 | P>L | No |
ClinGen TOPMed |
|
|
CA350339664 rs1278406659 |
518 | G>D | No |
ClinGen gnomAD |
|
|
CA2059685 rs775255613 |
519 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769473710 CA2059684 |
519 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs946938708 CA64008847 |
520 | F>L | No |
ClinGen TOPMed |
|
|
rs763013166 CA2059686 |
520 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA64008875 rs891140187 |
521 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1322184413 CA350339679 |
521 | P>S | No |
ClinGen gnomAD |
|
|
CA2059687 rs763782149 |
523 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486871073 CA350339699 |
524 | S>N | No |
ClinGen gnomAD |
|
|
rs1211876804 CA350339706 |
525 | P>A | No |
ClinGen gnomAD |
|
|
rs774136031 CA2059688 |
526 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA350339729 rs1237694457 |
528 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2059690 rs767678664 |
530 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM221671 rs1190426799 CA350339750 CA350339749 |
531 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA64008936 rs140867221 |
531 | M>V | No |
ClinGen ESP |
|
|
CA2059691 rs750694306 |
533 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1415169873 CA350339763 |
533 | K>R | No |
ClinGen gnomAD |
|
|
rs756155956 CA2059692 |
536 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1342968635 CA350339788 |
537 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 538 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766517331 CA2059693 |
538 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1420967138 CA350339793 |
538 | M>V | No |
ClinGen gnomAD |
|
|
rs368139563 CA64008947 |
539 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2059694 rs754291190 |
540 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1176490445 CA350339818 |
542 | I>F | No |
ClinGen gnomAD |
|
|
CA2059697 rs748503156 |
543 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1403313159 CA350339834 |
544 | T>I | No |
ClinGen TOPMed |
|
|
CA2059699 rs528874438 |
545 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574986206 CA350339836 |
545 | G>S | No |
ClinGen Ensembl |
|
|
rs769424376 CA2059701 |
547 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs748759824 CA2059703 |
548 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2059702 rs372045596 |
548 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768569299 CA2059704 |
550 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774179533 CA2059705 |
552 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA350339921 rs1574986229 |
557 | W>C | No |
ClinGen Ensembl |
|
|
CA350339923 COSM1404559 rs1480494909 |
558 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA350339933 rs1410790493 |
559 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761575550 CA2059706 |
559 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1441079594 CA350339937 |
560 | F>L | No |
ClinGen gnomAD |
|
|
CA2059707 rs771894898 |
562 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1394116238 CA350339959 |
563 | R>G | No |
ClinGen gnomAD |
|
|
rs773419766 CA2059708 |
563 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1015839962 CA64009055 |
564 | L>F | No |
ClinGen Ensembl |
|
|
CA2059709 rs565714072 |
565 | S>G | No |
ClinGen ExAC |
|
|
CA350339972 rs1489938804 |
565 | S>N | No |
ClinGen TOPMed |
|
|
CA2059710 rs766526311 |
565 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1359574039 CA350340004 |
569 | K>R | No |
ClinGen gnomAD |
|
|
rs1296448475 CA350340008 |
570 | G>R | No |
ClinGen gnomAD |
|
|
rs1378933730 CA350340015 |
571 | E>* | No |
ClinGen gnomAD |
|
|
CA2059713 rs765723806 |
571 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574986256 CA350340036 |
574 | V>A | No |
ClinGen Ensembl |
|
|
rs974234940 CA64009100 |
574 | V>I | No |
ClinGen Ensembl |
No associated diseases with O75084
4 regional properties for O75084
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| frizzled binding | Binding to a frizzled (fz) receptor. |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| Wnt receptor activity | Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity. |
| Wnt-protein binding | Binding to a Wnt-protein, a secreted growth factor involved in signaling. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| cellular response to retinoic acid | 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 retinoic acid stimulus. |
| mesenchymal to epithelial transition | A transition where a mesenchymal cell establishes apical/basolateral polarity, forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell. |
| negative regulation of cardiac muscle cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. |
| negative regulation of cell-substrate adhesion | Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| negative regulation of ectodermal cell fate specification | Any process that restricts, stops or prevents a cell from specifying into an ectoderm cell. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| non-canonical Wnt signaling pathway via JNK cascade | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, where the signal is passed on via the JNK cascade. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of epithelial cell proliferation involved in wound healing | Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. |
| regulation of canonical Wnt signaling pathway | Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration | Any process by which the number of skeletal muscle satellite cells in a skeletal muscle is maintained during muscle regeneration. There are at least three mechanisms by which this is achieved. Skeletal muscle satellite stem cell asymmetric division ensures satellite stem cell numbers are kept constant. Symmetric division of these cells amplifies the number of skeletal muscle satellite stem cells. Some adult skeletal muscle myoblasts (descendants of activated satellite cells) can develop back into quiescent satellite cells, replenishing the overall pool of satellite cells. |
| somatic stem cell division | The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. |
| stem cell population maintenance | The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
| T cell differentiation in thymus | The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. |
| Wnt signaling pathway, planar cell polarity pathway | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O19116 | SFRP1 | Secreted frizzled-related protein 1 | Bos taurus (Bovine) | PR |
| Q9DEQ4 | SFRP1 | Secreted frizzled-related protein 1 | Gallus gallus (Chicken) | PR |
| O57328 | FZD1 | Frizzled-1 | Gallus gallus (Chicken) | PR |
| Q9IA96 | SFRP2 | Secreted frizzled-related protein 2 | Gallus gallus (Chicken) | PR |
| O00144 | FZD9 | Frizzled-9 | Homo sapiens (Human) | PR |
| Q14332 | FZD2 | Frizzled-2 | Homo sapiens (Human) | PR |
| Q6FHJ7 | SFRP4 | Secreted frizzled-related protein 4 | Homo sapiens (Human) | PR |
| Q8N474 | SFRP1 | Secreted frizzled-related protein 1 | Homo sapiens (Human) | PR |
| Q96HF1 | SFRP2 | Secreted frizzled-related protein 2 | Homo sapiens (Human) | PR |
| Q9ULW2 | FZD10 | Frizzled-10 | Homo sapiens (Human) | PR |
| Q9UP38 | FZD1 | Frizzled-1 | Homo sapiens (Human) | PR |
| O60353 | FZD6 | Frizzled-6 | Homo sapiens (Human) | PR |
| Q9Z1N6 | Sfrp4 | Secreted frizzled-related sequence protein 4 | Mus musculus (Mouse) | PR |
| P97299 | Sfrp2 | Secreted frizzled-related protein 2 | Mus musculus (Mouse) | PR |
| Q8C4U3 | Sfrp1 | Secreted frizzled-related protein 1 | Mus musculus (Mouse) | PR |
| O70421 | Fzd1 | Frizzled-1 | Mus musculus (Mouse) | PR |
| Q9JIP6 | Fzd2 | Frizzled-2 | Mus musculus (Mouse) | PR |
| Q61090 | Fzd7 | Frizzled-7 | Mus musculus (Mouse) | PR |
| Q08463 | Fzd1 | Frizzled-1 | Rattus norvegicus (Rat) | PR |
| Q9JLS4 | Sfrp4 | Secreted frizzled-related protein 4 | Rattus norvegicus (Rat) | PR |
| Q08464 | Fzd2 | Frizzled-2 | Rattus norvegicus (Rat) | PR |
| Q7YRN1 | SFRP4 | Secreted frizzled-related protein 4 | Macaca mulatta (Rhesus macaque) | PR |
| Q5BL72 | fzd7 | Frizzled-7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRDPGAAAPL | SSLGLCALVL | ALLGALSAGA | GAQPYHGEKG | ISVPDHGFCQ | PISIPLCTDI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYNQTILPNL | LGHTNQEDAG | LEVHQFYPLV | KVQCSPELRF | FLCSMYAPVC | TVLDQAIPPC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSLCERARQG | CEALMNKFGF | QWPERLRCEN | FPVHGAGEIC | VGQNTSDGSG | GPGGGPTAYP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TAPYLPDLPF | TALPPGASDG | RGRPAFPFSC | PRQLKVPPYL | GYRFLGERDC | GAPCEPGRAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLMYFKEEER | RFARLWVGVW | SVLCCASTLF | TVLTYLVDMR | RFSYPERPII | FLSGCYFMVA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAHVAGFLLE | DRAVCVERFS | DDGYRTVAQG | TKKEGCTILF | MVLYFFGMAS | SIWWVILSLT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WFLAAGMKWG | HEAIEANSQY | FHLAAWAVPA | VKTITILAMG | QVDGDLLSGV | CYVGLSSVDA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRGFVLAPLF | VYLFIGTSFL | LAGFVSLFRI | RTIMKHDGTK | TEKLEKLMVR | IGVFSVLYTV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PATIVLACYF | YEQAFREHWE | RTWLLQTCKS | YAVPCPPGHF | PPMSPDFTVF | MIKYLMTMIV |
| 550 | 560 | 570 | |||
| GITTGFWIWS | GKTLQSWRRF | YHRLSHSSKG | ETAV |