O75955
PR
Gene name |
FLOT1 |
Protein name |
Flotillin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10211 |
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 O75955
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75955-F1 | Predicted | AlphaFoldDB |
274 variants for O75955
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 5 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363165023 rs1184673687 |
5 | C>Y | No |
gnomAD ClinGen |
|
|
CA136819801 rs958067280 |
8 | N>D | No |
Ensembl ClinGen |
|
|
rs1459531511 CA363164859 |
11 | M>I | No |
TOPMed ClinGen |
|
|
CA363164871 rs1581724917 |
11 | M>V | No |
Ensembl ClinGen |
|
|
rs1316664493 CA363163977 |
17 | C>Y | No |
TOPMed ClinGen |
|
|
CA3703930 rs777550120 |
18 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA3703929 rs755142070 |
19 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1266161313 CA363163942 |
20 | P>H | No |
TOPMed ClinGen |
|
|
rs754036569 CA3703928 |
23 | M>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703927 rs780293211 |
23 | M>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363163891 rs780293211 |
23 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754036569 CA363163907 |
23 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703926 rs756143200 |
25 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363163852 rs756143200 |
25 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363163845 rs1489157168 |
25 | A>V | No |
TOPMed ClinGen |
|
|
rs750570478 CA3703925 |
28 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1295947737 CA363163799 |
29 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1165364958 CA363163714 |
33 | P>L | No |
gnomAD ClinGen |
|
|
rs1442623551 CA363163702 |
34 | C>F | No |
gnomAD ClinGen |
|
|
CA363163709 rs1368567568 |
34 | C>R | No |
TOPMed ClinGen |
|
| TCGA novel | 36 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751929115 CA3703922 |
39 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA363163618 rs1161296726 |
40 | R>T | No |
TOPMed ClinGen |
|
| TCGA novel | 42 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363163484 rs1237866498 |
45 | T>I | No |
gnomAD ClinGen |
|
|
CA363163435 rs1275280368 |
49 | N>D | No |
gnomAD ClinGen |
|
|
CA363163430 rs1181287550 |
49 | N>S | No |
TOPMed ClinGen |
|
|
VAR_048415 rs3180825 CA136819566 |
52 | S>N | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs758833111 CA3703898 |
54 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201604170 CA3703897 |
58 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3703896 rs764739215 |
58 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs759232212 CA3703895 |
62 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs1174403746 CA363163234 |
64 | S>L | No |
gnomAD ClinGen |
|
|
CA363163212 rs1343835023 |
66 | T>I | No |
TOPMed ClinGen |
|
| TCGA novel | 69 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136819559 rs149130874 |
70 | Q>P | No |
ClinGen ESP TOPMed |
|
|
rs1562196369 CA363163051 |
72 | K>N | No |
Ensembl ClinGen |
|
| TCGA novel | 72 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564230384 CA136819397 |
76 | Q>* | No |
ClinGen gnomAD |
|
|
CA363162955 rs1351810853 |
78 | K>Q | No |
TOPMed ClinGen |
|
|
CA363162916 rs1273110658 |
79 | E>D | No |
gnomAD ClinGen |
|
|
rs1562196285 CA363162910 |
80 | M>V | No |
Ensembl ClinGen |
|
|
rs761767550 CA3703870 |
84 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703871 rs761767550 |
84 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1581721375 CA363162776 |
87 | M>T | No |
Ensembl ClinGen |
|
|
rs1313271729 CA363162747 |
90 | G>W | No |
ClinGen gnomAD |
|
|
rs149998338 CA3703868 |
92 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3703867 rs749079572 |
93 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA3703864 rs747028837 |
99 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC ClinGen NCI-TCGA |
|
rs1270336618 CA363162438 |
103 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA136819322 COSM161096 rs200270004 |
111 | I>M | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA363162103 rs1383758507 |
113 | A>T | No |
gnomAD ClinGen |
|
|
rs1317259954 CA363161849 |
119 | E>D | No |
ClinGen gnomAD |
|
|
rs1222269626 CA363161819 |
121 | Y>* | No |
ClinGen gnomAD |
|
|
CA363161825 rs1286693845 |
121 | Y>C | No |
gnomAD ClinGen |
|
|
CA136819002 rs994333324 |
124 | R>K | No |
ClinGen TOPMed |
|
|
CA363161773 rs1269120276 |
125 | Q>K | No |
TOPMed ClinGen |
|
|
CA136818998 rs766681940 |
127 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA363161711 rs772245658 |
129 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703833 rs772245658 |
129 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748240708 CA3703832 |
133 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA363161624 rs1406802600 |
135 | A>D | No |
gnomAD ClinGen |
|
|
rs769056175 CA3703830 |
136 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs139305218 CA3703828 |
138 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs139305218 CA363161591 |
138 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363161563 rs1160906464 |
140 | V>F | No |
gnomAD ClinGen |
|
|
rs901457596 CA136818976 |
141 | N>S | No |
TOPMed ClinGen |
|
|
CA363161532 rs1398603093 |
142 | M>I | No |
TOPMed gnomAD ClinGen |
|
|
CA363161538 rs1460114356 |
142 | M>V | No |
TOPMed ClinGen |
|
|
rs755711731 CA3703827 |
143 | G>A | No |
ExAC ClinGen |
|
|
CA363161488 rs1562194945 |
146 | V>M | No |
Ensembl ClinGen |
|
|
rs1481121398 CA363161434 |
150 | T>A | No |
gnomAD ClinGen |
|
|
rs756789679 CA363161398 |
153 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA136818959 rs962889608 |
155 | H>N | No |
Ensembl ClinGen |
|
|
rs764039022 CA3703822 |
156 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA363161343 rs1562194755 |
157 | D>E | No |
Ensembl ClinGen |
|
|
CA363161350 rs1213305304 |
157 | D>Y | No |
gnomAD ClinGen |
|
|
rs527661312 CA136818950 |
158 | Q>* | No |
ClinGen Ensembl |
|
|
CA363161271 rs915064430 |
160 | Y>C | No |
TOPMed ClinGen |
|
|
CA136818904 rs915064430 |
160 | Y>F | No |
TOPMed ClinGen |
|
|
CA363161262 rs1199336370 |
161 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3703809 rs746300199 |
163 | S>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 166 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766310311 CA136818894 |
166 | K>Q | No |
Ensembl ClinGen |
|
|
CA363161179 rs1426228786 |
167 | A>S | No |
TOPMed ClinGen |
|
|
CA136818889 rs866573329 |
168 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA363161171 rs866573329 |
168 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs927915773 COSM1443121 CA136818886 |
168 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 175 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3703806 rs143363349 |
177 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3394059 CA363161062 rs1162008587 COSM3394058 |
177 | R>W | pancreas [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA3703805 rs777183093 |
178 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA363161018 rs1454703551 |
181 | A>G | No |
TOPMed ClinGen |
|
|
rs758309450 CA3703804 |
183 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1315378468 CA363160972 |
186 | D>G | No |
gnomAD ClinGen |
|
|
rs1802470 CA136818868 |
186 | D>Y | No |
ClinGen Ensembl |
|
|
CA3703803 rs556838662 |
187 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs754804649 CA363160925 |
190 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754804649 CA3703801 |
190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139987312 CA3703802 |
190 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 193 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562193832 CA363160777 |
198 | K>E | No |
ClinGen Ensembl |
|
|
rs1320004781 CA363160767 |
198 | K>N | No |
gnomAD ClinGen |
|
|
CA363160749 rs746666729 |
200 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746666729 CA3703788 |
200 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1562193788 CA363160743 |
201 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368158615 CA363160676 |
207 | I>T | No |
gnomAD ClinGen |
|
|
CA136818774 rs140411480 |
208 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3703787 rs140411480 |
208 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529017532 CA3703786 |
209 | M>T | No |
1000Genomes ExAC TOPMed ClinGen |
|
|
CA136818760 rs1007115554 |
211 | K>N | No |
TOPMed ClinGen |
|
| TCGA novel | 214 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 215 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962758443 CA136818757 |
216 | Y>N | No |
gnomAD ClinGen |
|
|
rs911405943 CA136818749 |
217 | E>A | No |
Ensembl ClinGen |
|
|
CA3703785 rs747715326 |
217 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs985665707 CA136818745 |
218 | L>V | No |
ClinGen TOPMed |
|
|
rs146022600 CA3703784 |
219 | K>N | No |
ESP ExAC ClinGen |
|
|
rs753643195 CA3703782 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA363160462 rs1239613861 |
226 | E>G | No |
TOPMed ClinGen |
|
|
rs766108801 CA3703781 |
227 | V>I | No |
ExAC ClinGen |
|
|
CA3703780 rs539202201 |
229 | T>P | No |
ExAC gnomAD ClinGen |
|
|
rs539202201 CA136818731 |
229 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA3703778 rs764442539 |
230 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363160427 rs1239293094 |
230 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs763008579 CA3703777 |
231 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136818722 rs568759969 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA363160389 rs1408643365 |
234 | A>S | No |
ClinGen gnomAD |
|
|
rs775561716 CA3703776 |
235 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs989058565 CA136818717 |
238 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1468284661 CA363160299 |
240 | L>V | No |
TOPMed ClinGen |
|
|
rs765667408 CA3703775 |
241 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs561337775 CA3703756 |
243 | A>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363157618 rs1347701953 |
248 | Q>R | No |
TOPMed ClinGen |
|
|
rs1461444881 CA363157560 |
252 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA363157559 rs1264469384 |
253 | R>G | No |
ClinGen gnomAD |
|
|
CA363157553 rs201735257 |
253 | R>L | No |
ClinGen gnomAD |
|
|
rs201735257 CA136813438 |
253 | R>Q | No |
ClinGen gnomAD |
|
|
CA363157539 rs1270670999 |
255 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA136813430 rs375547176 |
255 | Q>R | No |
ESP ClinGen |
|
|
rs1229388371 CA363157528 |
256 | V>A | No |
gnomAD ClinGen |
|
|
rs370553302 CA136813428 |
256 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs147970955 CA136813425 |
257 | Q>* | No |
ESP ClinGen |
|
|
CA136813421 rs1002578222 |
257 | Q>H | No |
ClinGen Ensembl |
|
|
rs1453673619 CA363157491 |
259 | V>G | No |
ClinGen gnomAD |
|
|
CA3703751 rs149283777 |
259 | V>M | No |
1000Genomes ESP TOPMed gnomAD ClinGen |
|
|
rs760889017 CA3703749 |
260 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773627929 CA3703748 |
261 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA3703746 rs761576844 |
268 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA363157402 rs1490766319 |
269 | E>K | No |
ClinGen TOPMed |
|
|
rs1008277684 CA136813405 |
270 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 272 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184526864 CA363157360 |
273 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1184526864 CA363157359 |
273 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
CA3703745 rs774196542 |
274 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3703744 rs768249651 |
275 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363157349 rs768249651 |
275 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363157350 rs1238800619 |
275 | R>W | No |
gnomAD ClinGen |
|
| TCGA novel | 277 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3703743 rs748872631 |
278 | E>A | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 279 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363157309 rs1207191626 |
281 | A>S | No |
gnomAD ClinGen |
|
|
CA3703742 rs779840395 |
282 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA363157298 rs1246386016 |
283 | V>E | No |
gnomAD ClinGen |
|
|
CA363157301 rs1273655889 |
283 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA3703741 rs545898052 |
284 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363157293 rs545898052 |
284 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs781073236 CA3703739 |
286 | P>A | No |
ClinGen ExAC |
|
|
rs1447480631 CA363157275 |
287 | A>E | No |
gnomAD ClinGen |
|
|
CA3703737 rs752899086 |
288 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs891200138 CA136813378 |
288 | E>K | No |
ClinGen TOPMed |
|
|
rs1329779334 CA363157260 |
289 | A>V | No |
TOPMed ClinGen |
|
| TCGA novel | 291 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887497610 CA363157236 |
293 | K>E | No |
gnomAD ClinGen |
|
|
CA136813372 rs887497610 |
293 | K>Q | No |
ClinGen gnomAD |
|
|
CA3703735 rs200009722 |
295 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703734 rs753963070 |
296 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753963070 CA136813363 |
296 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs766726327 CA3703733 |
298 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs138717826 CA3703732 |
301 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363157125 rs1317315275 |
302 | K>R | No |
TOPMed ClinGen |
|
|
CA3703714 rs552351062 |
303 | S>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs958858574 CA136813289 |
303 | S>T | No |
ClinGen Ensembl |
|
|
CA363157065 rs1244431100 |
304 | Q>R | No |
TOPMed ClinGen |
|
|
rs750909604 CA3703713 |
307 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA3703711 rs757680800 |
311 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363156949 rs751984205 |
312 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703710 rs751984205 |
312 | E>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 313 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471331859 CA363156932 |
314 | A>P | No |
TOPMed ClinGen |
|
|
rs982085559 CA136813268 |
314 | A>V | No |
ClinGen Ensembl |
|
|
rs961766768 CA136813265 |
317 | R>G | No |
TOPMed ClinGen |
|
|
rs1411778061 CA363156899 |
317 | R>P | No |
ClinGen TOPMed |
|
|
rs773020676 CA3703700 |
319 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA363156747 rs1471818050 |
323 | E>G | No |
TOPMed ClinGen |
|
|
rs377445609 CA3703699 |
323 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363156736 rs1295787465 |
324 | A>T | No |
gnomAD ClinGen |
|
|
CA3703698 rs749500228 |
325 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs961682492 CA136813199 |
327 | I>M | No |
TOPMed ClinGen |
|
|
CA3703696 rs756214153 |
327 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs199886114 CA3703697 |
327 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1467115030 CA363156660 |
328 | G>V | No |
gnomAD ClinGen |
|
|
rs1175267877 CA363156654 |
329 | A>T | No |
ClinGen gnomAD |
|
|
rs1410384700 CA363156644 |
329 | A>V | No |
gnomAD ClinGen |
|
|
rs1391795227 CA363156639 |
330 | R>* | No |
gnomAD ClinGen |
|
|
rs1391795227 CA363156641 |
330 | R>G | No |
gnomAD ClinGen |
|
|
CA3703695 rs745991869 |
330 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1449120588 CA363156632 |
331 | A>T | No |
gnomAD ClinGen |
|
|
rs1243922743 COSM1443120 CA363156621 |
332 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs757846029 CA363156613 |
332 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs757846029 CA3703694 |
332 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs757846029 CA3703693 |
332 | R>Q | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs373178587 CA3703692 |
333 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs752367378 CA3703689 |
334 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC ClinGen NCI-TCGA |
|
rs147097423 CA3703687 |
337 | Q>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363156486 rs1344855033 |
339 | A>V | No |
ClinGen gnomAD |
|
|
rs759076151 COSM1546016 CA3703686 |
340 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA363156434 rs1285058980 |
343 | E>Q | No |
TOPMed ClinGen |
|
|
rs1331584435 CA363156399 |
344 | A>V | No |
TOPMed ClinGen |
|
|
rs546831217 CA3703683 |
349 | Q>L | No |
1000Genomes ClinGen |
|
|
CA3703681 rs530314265 |
350 | E>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3703682 rs766261419 |
350 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3703680 rs141726704 |
351 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363156274 rs1301688279 |
352 | A>G | No |
gnomAD ClinGen |
|
|
CA3703679 rs771865182 |
353 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA363156144 rs1195956454 |
359 | E>K | No |
ClinGen TOPMed |
|
|
CA363156079 rs1167167668 |
362 | P>R | No |
gnomAD ClinGen |
|
|
rs1273507611 CA363156084 |
362 | P>S | No |
TOPMed ClinGen |
|
|
CA363155960 rs1208853182 |
365 | A>T | No |
gnomAD ClinGen |
|
|
CA363155715 rs1321455499 |
375 | A>V | No |
TOPMed ClinGen |
|
|
CA3703660 rs773750940 |
376 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703659 rs774019896 |
381 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3703657 rs759861713 |
382 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs150262104 CA136813060 |
383 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3703655 rs140940537 |
384 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363155514 rs1458942508 |
385 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1386565016 CA363155503 |
385 | S>R | No |
gnomAD ClinGen |
|
|
CA363155486 rs1158438188 |
387 | T>P | No |
gnomAD ClinGen |
|
|
CA3703653 rs778334654 |
388 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748480888 CA3703651 COSM4139279 |
395 | G>A | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs772472592 CA3703652 |
395 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs772472592 CA363155350 |
395 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA363155256 rs770279962 |
400 | I>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3703648 rs770279962 |
400 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755381443 CA3703649 |
400 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779744796 CA3703647 |
401 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363155226 rs1265731685 |
402 | T>I | No |
gnomAD ClinGen |
|
|
rs955353053 CA136813022 |
403 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363155210 rs1345693189 |
403 | R>L | No |
gnomAD ClinGen |
|
|
rs1257658595 CA363155158 |
407 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1454146900 CA363155150 |
407 | S>T | No |
TOPMed ClinGen |
|
|
CA363155142 rs1330289899 |
408 | V>M | No |
gnomAD ClinGen |
|
|
rs1377956339 CA363155104 |
410 | R>K | No |
TOPMed ClinGen |
|
|
CA3703644 rs767419945 |
411 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs749948839 CA3703645 |
411 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA3703642 rs751320927 |
413 | G>C | No |
ExAC gnomAD ClinGen |
|
|
rs367715340 CA3703641 |
413 | G>V | No |
ESP ExAC TOPMed ClinGen |
|
|
rs760783487 CA3703638 |
414 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760783487 CA3703637 |
414 | V>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM1443119 CA3703639 rs201200201 |
414 | V>M | large_intestine Variant assessed as Somatic; 0.001064 impact. [Cosmic, NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs773173080 CA3703636 |
415 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363155051 rs1266818663 |
416 | I>V | No |
TOPMed ClinGen |
|
|
CA3703615 rs767460998 |
419 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3703612 rs769163435 |
421 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA363153768 rs1562169312 |
421 | H>Y | No |
Ensembl ClinGen |
|
|
CA363153741 rs1207081385 |
422 | K>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1481946546 CA363153708 |
422 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA363153671 rs1358654926 |
423 | P>R | No |
gnomAD ClinGen |
|
| TCGA novel | 423 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363153678 rs1229113913 |
423 | P>T | No |
gnomAD ClinGen |
|
|
rs1282530346 CA363153597 |
426 | T>R | No |
gnomAD ClinGen |
No associated diseases with O75955
6 regional properties for O75955
Functions
26 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| 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. |
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell-cell contact zone | Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| dopaminergic synapse | A synapse that uses dopamine as a neurotransmitter. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| flotillin complex | A protein complex that contains flotillin-1 and flotillin-2, and may contain associated proteins. Flotillins associate into membrane microdomains resembling caveolae. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic active zone | A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| uropod | A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| protease binding | Binding to a protease or a peptidase. |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| cellular response to exogenous dsRNA | 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 an exogenous double-stranded RNA stimulus. |
| dsRNA transport | The directed movement of dsRNA, double-stranded ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| extracellular matrix disassembly | A process that results in the breakdown of the extracellular matrix. |
| plasma membrane raft assembly | The aggregation, arrangement and bonding together of a set of components to form a plasma membrane raft. |
| plasma membrane raft organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of plasma membrane rafts. |
| positive regulation of cell junction assembly | Any process that activates or increases the frequency, rate or extent of cell junction assembly. |
| positive regulation of cell-cell adhesion mediated by cadherin | Any process that activates or increases the frequency, rate or extent of cell-cell adhesion mediated by cadherin. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of endocytosis | Any process that activates or increases the frequency, rate or extent of endocytosis. |
| positive regulation of heterotypic cell-cell adhesion | Any process that activates or increases the frequency, rate, or extent of heterotypic cell-cell adhesion. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of myoblast fusion | Any process that activates or increases the frequency, rate or extent of myoblast fusion. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of skeletal muscle tissue development | Any process that activates, maintains or increases the rate of skeletal muscle tissue development. |
| positive regulation of synaptic transmission, dopaminergic | Any process that activates, maintains or increases the frequency, rate or extent of dopaminergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter dopamine. |
| positive regulation of toll-like receptor 3 signaling pathway | Any process that activates or increases the frequency, rate, or extent of toll-like receptor 3 signaling pathway. |
| protein kinase C signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of neurotransmitter uptake | Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into a neuron or glial cell. |
| regulation of receptor internalization | Any process that modulates the frequency, rate or extent of receptor internalization. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| response to endoplasmic reticulum stress | 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 stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QLR4 | FLOT2 | Flotillin-2 | Bos taurus (Bovine) | PR |
| Q08DN8 | FLOT1 | Flotillin-1 | Bos taurus (Bovine) | PR |
| Q7YR41 | FLOT1 | Flotillin-1 | Pan troglodytes (Chimpanzee) | PR |
| O61491 | Flo1 | Flotillin-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q14254 | FLOT2 | Flotillin-2 | Homo sapiens (Human) | PR |
| Q60634 | Flot2 | Flotillin-2 | Mus musculus (Mouse) | PR |
| O08917 | Flot1 | Flotillin-1 | Mus musculus (Mouse) | PR |
| Q767L6 | FLOT1 | Flotillin-1 | Sus scrofa (Pig) | PR |
| Q9Z2S9 | Flot2 | Flotillin-2 | Rattus norvegicus (Rat) | PR |
| Q9Z1E1 | Flot1 | Flotillin-1 | Rattus norvegicus (Rat) | PR |
| Q5TM70 | FLOT1 | Flotillin-1 | Macaca mulatta (Rhesus macaque) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFFTCGPNEA | MVVSGFCRSP | PVMVAGGRVF | VLPCIQQIQR | ISLNTLTLNV | KSEKVYTRHG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VPISVTGIAQ | VKIQGQNKEM | LAAACQMFLG | KTEAEIAHIA | LETLEGHQRA | IMAHMTVEEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YKDRQKFSEQ | VFKVASSDLV | NMGISVVSYT | LKDIHDDQDY | LHSLGKARTA | QVQKDARIGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AEAKRDAGIR | EAKAKQEKVS | AQYLSEIEMA | KAQRDYELKK | AAYDIEVNTR | RAQADLAYQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVAKTKQQIE | EQRVQVQVVE | RAQQVAVQEQ | EIARREKELE | ARVRKPAEAE | RYKLERLAEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKSQLIMQAE | AEAASVRMRG | EAEAFAIGAR | ARAEAEQMAK | KAEAFQLYQE | AAQLDMLLEK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPQVAEEISG | PLTSANKITL | VSSGSGTMGA | AKVTGEVLDI | LTRLPESVER | LTGVSISQVN |
| HKPLRTA |