Q5VWM4
PR
Gene name |
PRAMEF8 |
Protein name |
PRAME family member 8 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:391002 |
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 Q5VWM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5VWM4-F1 | Predicted | AlphaFoldDB |
237 variants for Q5VWM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1441386063 CA338720758 |
2 | S>T | No |
TOPMed ClinGen |
|
|
rs1207289525 CA338720728 |
4 | R>G | No |
TOPMed ClinGen |
|
| TCGA novel | 5 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338720652 rs1483303897 |
6 | P>Q | No |
ClinGen TOPMed |
|
|
CA338720635 rs1273666849 |
7 | P>S | No |
ClinGen TOPMed |
|
|
rs1212539643 CA338720522 |
13 | A>V | No |
TOPMed ClinGen |
|
|
rs1358780764 CA338720482 |
14 | R>S | No |
TOPMed ClinGen |
|
|
rs1285049026 CA338720473 |
15 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309934302 CA338720333 |
20 | D>G | No |
TOPMed ClinGen |
|
|
rs1353709962 CA338720341 |
20 | D>H | No |
ClinGen TOPMed |
|
|
rs1410981662 CA338720308 |
21 | Q>* | No |
TOPMed ClinGen |
|
|
rs1370429467 CA338720294 |
21 | Q>R | No |
TOPMed ClinGen |
|
|
CA338720268 rs1407476713 |
22 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| TCGA novel | 22 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407476713 CA338720269 |
22 | A>V | No |
TOPMed ClinGen |
|
|
CA338720155 rs1474673318 |
26 | S>C | No |
TOPMed ClinGen |
|
|
CA338720103 rs1415026995 |
28 | M>T | No |
TOPMed ClinGen |
|
|
CA338720032 rs1232194702 |
29 | E>D | No |
TOPMed ClinGen |
|
|
CA338720017 rs1202321466 |
30 | E>* | No |
ClinGen TOPMed |
|
|
rs1453132950 CA338720012 |
30 | E>A | No |
TOPMed ClinGen |
|
|
rs1290250892 CA338719971 |
31 | L>R | No |
TOPMed ClinGen |
|
| TCGA novel | 32 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 32 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209468607 CA338719953 |
33 | R>G | No |
TOPMed ClinGen |
|
| TCGA novel | 34 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719800 rs1332949735 |
37 | P>S | No |
ClinGen TOPMed |
|
|
rs1349908717 CA338719679 |
41 | M>T | No |
TOPMed ClinGen |
|
| TCGA novel | 43 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278321334 CA338719616 |
43 | A>V | No |
TOPMed ClinGen |
|
| TCGA novel | 44 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719579 rs1439154764 |
45 | S>N | No |
TOPMed ClinGen |
|
|
CA338719561 rs1332046902 |
46 | R>G | No |
TOPMed ClinGen |
|
|
rs1457338408 CA338719529 |
48 | R>C | No |
TOPMed ClinGen |
|
|
rs1457338408 CA338719533 |
48 | R>G | No |
TOPMed ClinGen |
|
|
rs1406542083 CA338719525 |
48 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719534 rs1457338408 |
48 | R>S | No |
TOPMed ClinGen |
|
| TCGA novel | 51 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719455 rs1175422674 |
51 | T>N | No |
TOPMed ClinGen |
|
|
rs1247132546 CA338719431 |
52 | L>P | No |
TOPMed ClinGen |
|
|
CA338719344 rs1467345068 |
55 | M>I | No |
TOPMed ClinGen |
|
| TCGA novel | 55 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719363 rs1192756078 |
55 | M>V | No |
ClinGen TOPMed |
|
|
CA338719333 rs1270291626 |
56 | V>M | No |
TOPMed ClinGen |
|
|
CA338719287 rs1209545340 |
58 | A>S | No |
TOPMed ClinGen |
|
|
CA338719275 rs1316429780 |
58 | A>V | No |
TOPMed ClinGen |
|
| TCGA novel | 59 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282161908 CA338719252 |
59 | W>C | No |
TOPMed ClinGen |
|
|
CA338719243 rs1221499513 |
60 | P>T | No |
ClinGen TOPMed |
|
|
CA338719200 rs1439118930 |
63 | R>C | No |
TOPMed ClinGen |
|
|
rs1367743735 CA338719196 |
63 | R>H | No |
TOPMed ClinGen |
|
| TCGA novel | 65 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 67 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322159959 CA338719104 |
70 | M>K | No |
TOPMed ClinGen |
|
| TCGA novel | 71 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338719057 rs1435289031 |
72 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA338719005 rs1156303488 |
76 | E>K | No |
TOPMed ClinGen |
|
|
rs1416156881 CA338718989 |
77 | S>P | No |
TOPMed ClinGen |
|
| TCGA novel | 79 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172896085 CA338718907 |
82 | L>P | No |
TOPMed ClinGen |
|
|
rs1240490533 CA338718857 |
85 | V>A | No |
ClinGen TOPMed |
|
|
CA338718861 rs1189463716 |
85 | V>F | No |
TOPMed ClinGen |
|
|
rs1240490533 CA338718855 |
85 | V>G | No |
ClinGen TOPMed |
|
|
CA338718863 rs1189463716 |
85 | V>I | No |
TOPMed ClinGen |
|
|
rs1189463716 CA338718865 |
85 | V>L | No |
TOPMed ClinGen |
|
| TCGA novel | 86 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338718824 rs1212308844 |
87 | V>A | No |
TOPMed ClinGen |
|
|
rs1232677252 CA338718781 |
90 | T>N | No |
TOPMed ClinGen |
|
|
CA338718789 rs1280277050 |
90 | T>P | No |
TOPMed ClinGen |
|
|
rs1344771216 CA338718777 |
91 | Q>* | No |
ClinGen TOPMed |
|
|
rs1298707237 CA338718750 |
92 | E>G | No |
TOPMed ClinGen |
|
|
CA338718723 rs1228768281 |
94 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA338718718 rs1360816618 |
94 | R>H | No |
TOPMed ClinGen |
|
| TCGA novel | 95 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA18439541 rs1553170323 |
181 | K>Q | No |
ClinGen TOPMed |
|
|
rs1434069136 CA338716928 |
184 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
CA338716063 rs1388267898 |
213 | P>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1458909625 CA338716018 |
214 | W>* | No |
TOPMed ClinGen |
|
|
rs1487161118 CA338715940 |
217 | S>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1569753575 CA338715880 |
219 | L>P | No |
ClinGen Ensembl |
|
|
rs1553120657 CA338715626 |
229 | M>I | No |
Ensembl ClinGen |
|
|
rs1553120656 CA338715531 |
233 | R>C | No |
Ensembl ClinGen |
|
|
rs1417853123 CA338715522 |
233 | R>H | No |
TOPMed ClinGen |
|
|
CA338715467 rs1269991220 |
235 | L>F | No |
TOPMed ClinGen |
|
|
rs1192120217 CA338715430 |
236 | V>L | No |
ClinGen TOPMed |
|
|
rs1468675282 CA338715234 |
241 | R>C | No |
ClinGen TOPMed |
|
|
rs1272187717 CA338715211 |
242 | A>S | No |
TOPMed ClinGen |
|
|
rs1211382458 CA338715040 |
247 | P>L | No |
TOPMed ClinGen |
|
|
CA338714910 rs1238323981 |
252 | G>R | No |
TOPMed ClinGen |
|
|
CA338714744 rs1303196711 |
256 | A>V | No |
ClinGen TOPMed |
|
|
rs1441319564 CA338714740 |
257 | R>* | No |
TOPMed ClinGen |
|
|
rs1369916882 CA338714730 |
257 | R>Q | No |
TOPMed ClinGen |
|
|
CA338714409 rs1437468972 |
266 | D>V | No |
TOPMed ClinGen |
|
|
CA338714400 rs1385850410 |
267 | Y>N | No |
ClinGen TOPMed |
|
|
rs1158057236 CA338714233 |
271 | L>P | No |
ClinGen TOPMed |
|
|
rs1379848807 CA338714094 |
276 | V>I | No |
TOPMed ClinGen |
|
| TCGA novel | 279 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454124244 CA338713976 |
280 | E>K | No |
TOPMed ClinGen |
|
|
rs1553170333 CA18439540 |
284 | D>G | No |
TOPMed ClinGen |
|
|
CA338713752 rs1261886520 |
286 | L>P | No |
TOPMed ClinGen |
|
|
CA338713641 CA338713638 rs1192271909 |
288 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476821885 CA338713561 |
292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1259561303 CA338713539 |
293 | S>P | No |
TOPMed ClinGen |
|
|
rs1197837841 CA338713432 |
296 | M>I | No |
TOPMed ClinGen |
|
|
rs1276244750 CA338713457 |
296 | M>V | No |
TOPMed ClinGen |
|
|
rs1340294337 CA338713401 |
297 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1216911694 CA338713382 |
298 | V>I | No |
ClinGen TOPMed |
|
|
rs1294458107 CA338713334 |
299 | M>T | No |
ClinGen TOPMed |
|
|
CA338713300 rs1414633238 |
300 | T>N | No |
TOPMed ClinGen |
|
|
CA338713297 rs1331271299 |
301 | D>N | No |
TOPMed ClinGen |
|
|
CA338713245 rs1392818389 |
302 | C>R | No |
ClinGen TOPMed |
|
|
rs1463621634 CA338713096 |
306 | E>G | No |
TOPMed ClinGen |
|
|
rs1165655559 CA338713060 |
307 | S>L | No |
TOPMed ClinGen |
|
| TCGA novel | 312 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235573289 CA338712945 |
312 | L>V | No |
TOPMed ClinGen |
|
| TCGA novel | 313 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183683944 CA338712831 |
315 | C>R | No |
TOPMed ClinGen |
|
|
rs1438148050 CA338712753 |
316 | P>L | No |
TOPMed ClinGen |
|
| TCGA novel | 317 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196919801 CA338712676 |
318 | I>T | No |
ClinGen TOPMed |
|
|
rs1469882109 CA338712667 |
319 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 319 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233269331 CA338712598 |
321 | L>V | No |
TOPMed ClinGen |
|
|
CA338712562 rs1354830103 |
322 | K>R | No |
TOPMed ClinGen |
|
|
CA338712533 rs1281679526 |
323 | E>D | No |
TOPMed ClinGen |
|
|
CA338712527 rs1240244952 |
324 | L>V | No |
TOPMed ClinGen |
|
|
rs1396115914 CA338712455 |
326 | L>P | No |
ClinGen TOPMed |
|
|
rs1396115914 CA338712447 |
326 | L>R | No |
TOPMed ClinGen |
|
|
CA338712466 rs1330275016 |
326 | L>V | No |
TOPMed ClinGen |
|
| TCGA novel | 327 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325969803 CA338712421 |
327 | R>T | No |
ClinGen TOPMed |
|
|
rs1411580201 CA338712379 |
329 | V>I | No |
TOPMed ClinGen |
|
|
CA338712328 rs1470396315 |
330 | T>M | No |
ClinGen TOPMed |
|
|
CA338712346 rs1160179969 |
330 | T>P | No |
TOPMed ClinGen |
|
|
rs1177076018 CA338712296 |
332 | T>A | No |
ClinGen TOPMed |
|
|
CA338712270 rs1469978565 |
332 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253757607 CA338712208 |
334 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 336 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286974822 CA338712068 |
338 | P>L | No |
TOPMed ClinGen |
|
|
rs1449896432 CA338712075 |
338 | P>S | No |
TOPMed ClinGen |
|
|
rs1350495703 CA338712032 |
339 | L>F | No |
TOPMed ClinGen |
|
|
CA338712011 rs1307517245 |
340 | T>A | No |
TOPMed ClinGen |
|
|
rs1303641995 CA338711988 |
341 | G>C | No |
TOPMed ClinGen |
|
|
rs1347550555 CA338711981 |
341 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| TCGA novel | 341 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347550555 CA338711977 |
341 | G>V | No |
TOPMed ClinGen |
|
| TCGA novel | 345 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553120431 CA338711841 |
346 | V>A | No |
ClinGen Ensembl |
|
|
rs879174796 CA18439534 |
346 | V>I | No |
ClinGen Ensembl |
|
|
CA338711802 rs1359723436 |
348 | A>T | No |
TOPMed ClinGen |
|
| TCGA novel | 350 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338711766 rs1395952472 |
351 | Q>* | No |
TOPMed ClinGen |
|
| TCGA novel | 351 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338711761 rs1395952472 |
351 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 355 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 356 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 357 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338711530 rs1477085430 |
358 | C>G | No |
TOPMed ClinGen |
|
| TCGA novel | 360 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243916295 CA338711449 |
360 | I>V | No |
TOPMed ClinGen |
|
|
rs1488237430 CA338711422 |
361 | M>K | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338711259 rs1218205281 |
367 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 367 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271414470 CA338711163 |
371 | V>A | No |
ClinGen TOPMed |
|
|
rs1431448875 CA338711085 |
374 | R>C | No |
TOPMed ClinGen |
|
|
CA338711080 rs1339719550 |
374 | R>H | No |
TOPMed ClinGen |
|
|
CA338711013 rs1436379126 |
376 | S>F | No |
TOPMed ClinGen |
|
|
rs1175705826 CA338710961 |
379 | S>N | No |
TOPMed ClinGen |
|
|
CA338710887 rs1412970575 |
381 | F>S | No |
TOPMed ClinGen |
|
| TCGA novel | 383 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187157167 CA338710815 |
384 | C>F | No |
TOPMed ClinGen |
|
|
rs1477516145 CA338710740 |
387 | L>F | No |
ClinGen TOPMed |
|
|
rs1261687327 CA338710699 |
388 | I>T | No |
ClinGen TOPMed |
|
|
CA338710676 rs1190629774 |
389 | S>P | No |
ClinGen TOPMed |
|
|
CA338710612 rs1237257093 |
392 | A>D | No |
TOPMed ClinGen |
|
| TCGA novel | 392 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310048132 CA338710552 |
394 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 394 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338710486 rs1218742137 CA338710497 |
395 | N>K | No |
TOPMed ClinGen |
|
|
CA338710433 rs1416541966 |
398 | R>C | No |
TOPMed ClinGen |
|
|
rs1355916188 CA338710424 |
398 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA338710348 rs1356531281 |
401 | V>I | No |
TOPMed ClinGen |
|
|
rs1421493199 CA338710335 |
402 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA338710330 rs1421493199 |
402 | G>W | No |
ClinGen TOPMed |
|
|
rs1167818448 CA338710298 |
404 | S>G | No |
TOPMed ClinGen |
|
|
CA338710103 rs1475811457 |
410 | L>M | No |
TOPMed ClinGen |
|
|
CA338710023 rs1413583258 |
412 | P>R | No |
TOPMed ClinGen |
|
| TCGA novel | 412 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481800278 CA338709967 |
414 | P>L | No |
TOPMed ClinGen |
|
|
rs1234276724 CA338709755 |
422 | G>V | No |
TOPMed ClinGen |
|
|
CA338709726 rs1255592697 |
423 | A>T | No |
ClinGen TOPMed |
|
|
rs1235112531 CA338709655 |
425 | C>F | No |
ClinGen TOPMed |
|
|
CA338709630 rs1322221617 |
427 | G>E | No |
TOPMed ClinGen |
|
|
rs1311873293 CA338709588 |
430 | A>S | No |
ClinGen TOPMed |
|
|
rs1226424449 CA338709566 |
431 | E>Q | No |
TOPMed ClinGen |
|
|
CA18439532 rs1553170456 |
438 | N>K | No |
TOPMed ClinGen |
|
|
rs1398272141 CA338709334 |
440 | L>P | No |
TOPMed ClinGen |
|
|
CA338709317 rs1327977544 |
441 | R>T | No |
TOPMed ClinGen |
|
|
rs1163230762 CA338709226 |
443 | L>F | No |
TOPMed ClinGen |
|
|
rs1409084272 CA338709150 |
448 | I>V | No |
TOPMed ClinGen |
|
|
rs1178933294 CA338709023 |
452 | C>S | No |
TOPMed ClinGen |
|
|
rs1215055644 CA338708967 |
454 | V>A | No |
TOPMed ClinGen |
|
|
CA338708977 rs1235872412 |
454 | V>I | No |
ClinGen TOPMed |
|
|
CA338708962 rs1264811581 |
455 | P>T | No |
TOPMed ClinGen |
|
|
CA338708912 rs1219204714 |
457 | P>H | No |
ClinGen TOPMed |
|
|
CA338708904 rs1318576726 |
458 | R>C | No |
TOPMed ClinGen |
|
|
rs1309695044 CA338708901 |
458 | R>H | No |
TOPMed ClinGen |
|
|
CA338708869 rs1374906484 |
460 | G>V | No |
ClinGen TOPMed |
|
|
rs1387446780 CA338708764 |
466 | D>E | No |
TOPMed ClinGen |
|
|
rs1305846777 CA338708765 |
466 | D>V | No |
TOPMed ClinGen |
|
|
CA338708755 rs1390032816 |
467 | L>P | No |
TOPMed ClinGen |
|
| TCGA novel | 469 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338708718 rs1455794413 |
470 | S>G | No |
TOPMed ClinGen |
|
|
rs1346211682 CA338708697 |
471 | H>N | No |
TOPMed ClinGen |
|
|
CA338708673 rs1418211599 |
472 | C>F | No |
ClinGen TOPMed |
|
|
CA338708679 rs1158386156 |
472 | C>G | No |
TOPMed ClinGen |
|
|
rs1378126968 CA338708649 |
473 | L>P | No |
TOPMed ClinGen |
|
|
rs1245172335 CA338708616 |
475 | C>S | No |
TOPMed ClinGen |
No associated diseases with Q5VWM4
No regional properties for Q5VWM4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5VWM4 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5VXH5 | PRAMEF7 | PRAME family member 7 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSIRAPPRLL | ELARQRLLRD | QALAISTMEE | LPRELFPTLF | MEAFSRRRCE | TLKTMVQAWP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FTRLPLGSLM | KSPHLESLKS | VLEGVDVLLT | QEVRPRQSKL | QVLDLRNVDE | NFCDIFSGAT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ASFPEALSQK | QTADNCPGTG | RQQPFMVFID | LCLKNRTLDE | CLTHLLEWGK | QRKGLLHVCC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KELQVFGMPI | HSIIEVLNMV | ELDCIQEVEV | CCPWELSTLV | KFAPYLGQMR | NLRKLVLFNI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RASACIPPDN | KGQFIARFTS | QFLKLDYFQN | LSMHSVSFLE | GHLDQLLRCL | QASLEMVVMT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DCLLSESDLK | HLSWCPSIRQ | LKELDLRGVT | LTHFSPEPLT | GLLEQVVATL | QTLDLEDCGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MDSQLSAILP | VLSRCSQLST | FSFCGNLISM | AALENLLRHT | VGLSKLSLEL | YPAPLESYDT |
| 430 | 440 | 450 | 460 | 470 | |
| QGALCWGRFA | ELGAELMNTL | RDLRQPKIIV | FCTVPCPRCG | IRASYDLEPS | HCLC |