O75487
PR
Gene name |
GPC4 (UNQ474/PRO937) |
Protein name |
Glypican-4 |
Names |
K-glypican |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2239 |
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 O75487
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75487-F1 | Predicted | AlphaFoldDB |
301 variants for O75487
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1556028269 RCV000659267 |
106 | D>missing | Keipert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2068380433 RCV001331934 |
217 | A>V | Keipert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000659265 rs1556025980 |
235 | V>missing | Keipert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000768697 rs1569341521 |
248 | L>missing | Keipert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10520311 rs757553320 RCV000622575 |
488 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA414691007 rs1556022644 RCV000659266 |
496 | E>* | Keipert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082622 | 496 | E>del | KPTS; increased proteasomal degradation [UniProt] | Yes | UniProt |
|
rs1556022641 RCV000659264 CA414690934 |
506 | Q>* | Keipert syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082623 | 506 | Q>del | KPTS; increased proteasomal degradation [UniProt] | Yes | UniProt |
|
rs1569339879 RCV000768696 |
508 | P>missing | Keipert syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745323282 CA10520608 |
3 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1353328059 CA414693851 |
3 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414693833 rs1240078663 |
4 | F>L | No |
ClinGen gnomAD |
|
|
CA414693830 rs1465120909 |
5 | G>R | No |
ClinGen Ensembl |
|
|
CA10520606 rs770610038 |
6 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA414693803 rs746676957 |
7 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10520604 rs777517409 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746676957 CA10520605 |
7 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752523376 CA10520602 |
8 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA414693759 rs1263592590 |
11 | C>F | No |
ClinGen TOPMed |
|
|
CA10520601 rs778758698 |
12 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs138346302 CA10520600 |
13 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414693702 rs1438845208 |
17 | S>G | No |
ClinGen gnomAD |
|
|
rs750505001 CA10520599 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767561270 CA10520598 |
20 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751782265 CA10520596 |
22 | A>V | No |
ClinGen ExAC |
|
|
CA10520595 rs764442045 |
23 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs776008914 CA10520594 |
24 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520592 rs770317897 |
26 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10520590 rs776171334 |
29 | S>I | No |
ClinGen ExAC |
|
|
rs770392932 CA10520589 |
31 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569359263 CA414693538 |
32 | E>K | No |
ClinGen Ensembl |
|
|
CA10520588 rs746547721 |
35 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA414693467 rs777368594 |
38 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520587 rs777368594 |
38 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901226796 CA335957499 |
41 | G>S | No |
ClinGen TOPMed |
|
|
rs1282440108 CA414693398 |
44 | K>R | No |
ClinGen gnomAD |
|
|
rs747883762 CA10520585 |
45 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1346080404 CA414693377 |
46 | D>Y | No |
ClinGen gnomAD |
|
|
rs1289467957 CA414693364 |
47 | A>S | No |
ClinGen TOPMed |
|
|
CA10520584 rs778738705 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10520582 rs375292719 |
48 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414693347 rs757244060 |
49 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757244060 CA10520580 |
49 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414693336 rs1569359236 |
50 | H>Y | No |
ClinGen Ensembl |
|
|
rs751694190 CA10520579 |
53 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA414693295 rs1476107421 |
53 | N>S | No |
ClinGen gnomAD |
|
|
rs1242382754 CA414693288 |
54 | G>S | No |
ClinGen gnomAD |
|
|
rs778063372 CA10520560 |
56 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10520559 rs758661073 |
59 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414697171 rs1261364513 |
60 | C>S | No |
ClinGen gnomAD |
|
|
CA10520558 rs753012438 |
61 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA335951813 rs751634682 |
61 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1257429483 CA414697120 |
62 | Q>H | No |
ClinGen gnomAD |
|
|
CA10520557 rs764215774 |
63 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10520556 rs376026510 |
69 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520555 rs754239420 CA414696978 |
70 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520553 rs762893021 |
73 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766740836 CA10520554 |
73 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767055200 CA10520551 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1280743874 CA414696804 |
80 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM3668674 CA10520550 rs761433749 |
81 | D>G | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10520549 rs147901497 |
84 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748978226 CA10520547 COSM138167 |
89 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775411048 CA10520546 |
90 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs371601767 CA335951812 |
92 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs759909433 CA10520545 |
92 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748857660 CA335951811 |
93 | H>Q | No |
ClinGen Ensembl |
|
|
CA414696556 rs1179466922 |
95 | Q>* | No |
ClinGen gnomAD |
|
|
rs144681616 CA10520544 |
101 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414696446 rs1481213511 |
101 | R>H | No |
ClinGen gnomAD |
|
|
rs1238091189 CA414696417 |
103 | K>R | No |
ClinGen gnomAD |
|
|
rs768759562 CA10520514 |
111 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 118 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 118 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483316727 CA414695635 |
125 | V>A | No |
ClinGen TOPMed |
|
|
CA414695632 rs1290262277 |
126 | K>E | No |
ClinGen gnomAD |
|
|
rs1360220791 CA414695556 |
132 | Y>C | No |
ClinGen gnomAD |
|
|
COSM1115388 rs1369534295 CA414695417 |
144 | V>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768240369 CA10520510 |
144 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414695422 rs768240369 |
144 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA335950742 rs376739765 |
148 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375014186 CA10520507 |
151 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757840938 CA10520509 |
151 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757840938 CA10520508 |
151 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345093675 CA414695314 |
154 | N>H | No |
ClinGen TOPMed |
|
|
CA414695162 rs1274379465 |
167 | R>C | No |
ClinGen gnomAD |
|
|
COSM1682892 rs1361564613 CA414695158 |
167 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA10520504 rs752342875 |
170 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414695125 rs1380870225 |
171 | R>G | No |
ClinGen TOPMed |
|
|
COSM1208532 rs370833731 CA10520503 |
174 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1309749218 CA414695082 |
174 | R>L | No |
ClinGen TOPMed |
|
|
CA335950741 rs375873250 |
176 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs1338175879 CA414695042 |
178 | S>C | No |
ClinGen gnomAD |
|
|
CA414695012 rs1297289741 |
181 | H>N | No |
ClinGen gnomAD |
|
|
CA414694975 rs1400156463 |
184 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10520501 rs776584699 |
194 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520500 rs770984367 |
194 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776584699 CA335950740 |
194 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414694835 rs1392170848 |
195 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1392170848 CA414694834 |
195 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1163177928 CA414694822 |
196 | Q>H | No |
ClinGen gnomAD |
|
|
CA414694798 rs1603064315 |
199 | P>T | No |
ClinGen Ensembl |
|
|
COSM1625534 CA335950739 rs966240911 |
201 | G>R | liver breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774267258 CA10520498 |
205 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477590627 CA414694655 |
210 | Q>R | No |
ClinGen gnomAD |
|
|
rs866365521 CA335950738 |
211 | V>A | No |
ClinGen Ensembl |
|
|
rs745324160 CA10520495 |
213 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10520496 rs745324160 |
213 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781164122 CA10520494 |
215 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10520493 rs142826244 |
216 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414694571 rs1209105258 |
218 | A>S | No |
ClinGen gnomAD |
|
|
CA414694560 rs1252511131 |
219 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414694530 rs1218881357 |
222 | A>T | No |
ClinGen gnomAD |
|
|
rs747597543 CA10520490 |
223 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275912225 CA414694489 |
226 | A>S | No |
ClinGen gnomAD |
|
|
rs778160762 CA10520489 |
226 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752257715 CA10520487 |
232 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414694402 rs1339322598 |
234 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372915578 CA10520484 |
237 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10520457 rs780257736 |
245 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 248 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866960169 CA335949733 |
255 | S>F | No |
ClinGen Ensembl |
|
|
rs1238801531 CA414692716 |
256 | H>Y | No |
ClinGen gnomAD |
|
|
CA414692701 rs1304736937 |
258 | R>Q | No |
ClinGen TOPMed |
|
|
rs199910189 CA10520455 |
258 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA335949732 rs771753995 |
259 | G>D | No |
ClinGen Ensembl |
|
|
CA414692687 rs1332425308 |
261 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA335949729 rs1052589280 |
270 | C>G | No |
ClinGen TOPMed |
|
|
rs144650030 CA10520452 |
273 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 274 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323856743 CA414692594 |
274 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10520451 rs773510836 |
274 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414692542 rs1472837853 |
281 | Q>R | No |
ClinGen gnomAD |
|
|
rs1291610541 CA414692535 |
282 | G>A | No |
ClinGen gnomAD |
|
|
rs781714136 CA10520450 |
282 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs928201352 CA335949728 |
283 | D>Y | No |
ClinGen TOPMed |
|
|
CA10520449 rs748709159 |
285 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520448 rs778547920 |
286 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520447 rs768233396 |
289 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10520446 rs748839724 |
291 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA10520445 rs757739421 |
292 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414692467 rs1243227222 |
292 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 294 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982519390 CA335949337 |
295 | M>L | No |
ClinGen TOPMed |
|
|
CA10520432 rs762294520 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952384999 CA335949336 |
309 | E>K | No |
ClinGen Ensembl |
|
|
COSM1497159 rs367644057 CA335949335 |
310 | S>L | kidney [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
| TCGA novel | 312 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962591498 CA335949334 |
316 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA335949333 rs149716666 |
317 | V>M | No |
ClinGen ESP |
|
|
CA414692241 rs1185829058 |
323 | I>V | No |
ClinGen TOPMed |
|
|
CA414692205 rs1437057004 |
327 | Q>P | No |
ClinGen gnomAD |
|
|
CA414692177 rs1351351427 |
331 | V>I | No |
ClinGen gnomAD |
|
|
CA335949332 rs919581481 |
332 | Q>R | No |
ClinGen gnomAD |
|
|
CA10520427 rs769454331 |
335 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192343729 CA10520404 |
337 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 342 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414692079 rs1256774659 |
343 | P>L | No |
ClinGen gnomAD |
|
|
rs1484386047 CA414692081 |
343 | P>S | No |
ClinGen gnomAD |
|
|
rs370575839 CA10520401 |
345 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520398 rs778935883 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1031080736 CA335949324 |
352 | I>M | No |
ClinGen Ensembl |
|
|
rs1389144523 CA414691998 |
357 | S>P | No |
ClinGen gnomAD |
|
|
CA10520397 rs761780244 |
362 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750521697 CA10520396 |
364 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA414691948 rs1465868722 |
364 | R>H | No |
ClinGen gnomAD |
|
|
rs767791248 CA10520395 |
367 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757613246 CA10520394 |
368 | H>D | No |
ClinGen ExAC |
|
|
rs1375626124 CA414691920 |
368 | H>Q | No |
ClinGen TOPMed |
|
|
CA414691906 rs1420788652 |
370 | P>L | No |
ClinGen gnomAD |
|
|
CA10520393 rs751969760 |
370 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1039874156 CA335949323 |
371 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 371 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414691889 rs1350732925 |
373 | R>G | No |
ClinGen TOPMed |
|
|
CA335949321 rs903876833 |
376 | T>A | No |
ClinGen Ensembl |
|
|
CA10520390 rs775820316 |
377 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10520389 rs765774897 |
377 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758908763 CA10520388 |
378 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA414691848 rs1255079762 |
380 | T>S | No |
ClinGen gnomAD |
|
|
rs776172983 CA10520387 |
383 | D>Y | No |
ClinGen ExAC |
|
|
rs770564023 CA10520386 |
384 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1354378721 CA414691823 |
384 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 385 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414691793 rs1243404114 |
387 | T>I | No |
ClinGen gnomAD |
|
|
rs779300751 CA10520363 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520364 rs779300751 |
389 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335949276 rs752793272 |
390 | K>R | No |
ClinGen 1000Genomes |
|
|
VAR_016191 CA10520361 rs1129980 |
391 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 396 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520360 rs768475427 |
404 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414691675 rs373482151 |
404 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373482151 CA10520359 |
404 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1603054156 CA414691668 |
405 | S>R | No |
ClinGen Ensembl |
|
|
rs771094735 CA10520357 |
407 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414691640 rs1291630415 |
409 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10520355 rs777795816 |
410 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs868571618 CA335949275 |
410 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1556022962 VAR_083241 RCV000577885 CA414691621 |
412 | R>K | found in a patient with features of Robinow syndrome; unknown pathological significance [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10520354 rs146001319 |
413 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414691589 rs1372249380 |
417 | N>D | No |
ClinGen gnomAD |
|
|
TCGA novel CA414691582 rs1603054132 |
418 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA414691557 rs1417964132 |
421 | D>G | No |
ClinGen gnomAD |
|
|
rs1434885853 CA414691548 |
422 | D>G | No |
ClinGen gnomAD |
|
|
rs1212592946 CA414691512 |
427 | K>E | No |
ClinGen gnomAD |
|
|
rs1259604532 CA414691498 |
429 | K>E | No |
ClinGen gnomAD |
|
|
CA414691483 rs1395407469 |
431 | R>G | No |
ClinGen TOPMed |
|
|
CA10520332 rs780485237 |
431 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs756672821 CA414691443 |
435 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756672821 CA10520330 |
435 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753773859 CA10520329 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048369 VAR_016192 CA10520328 |
442 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1310138594 CA414691392 |
443 | N>S | No |
ClinGen gnomAD |
|
|
CA414691356 rs1160335744 |
448 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 449 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334272349 CA414691334 |
451 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520326 rs751181945 |
453 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750882215 CA10520327 |
453 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 454 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414691311 rs1172967260 |
455 | S>G | No |
ClinGen gnomAD |
|
|
rs1381099676 CA414691296 |
457 | P>T | No |
ClinGen TOPMed |
|
|
rs775479343 CA10520324 |
458 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10520322 rs760126328 |
459 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414691260 rs1341884552 |
462 | L>H | No |
ClinGen TOPMed |
|
|
rs1230834080 CA414691257 |
463 | R>C | No |
ClinGen gnomAD |
|
|
CA10520320 rs773140565 |
463 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414691238 rs1257198200 |
466 | M>V | No |
ClinGen gnomAD |
|
|
rs1210195338 CA414691225 |
467 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 469 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 469 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768883436 CA10520316 |
471 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10520317 rs137944673 |
471 | M>T | No |
ClinGen ESP ExAC |
|
|
rs1287362283 CA414691191 |
473 | S>N | No |
ClinGen gnomAD |
|
|
rs1223347821 CA414691146 |
479 | Y>H | No |
ClinGen gnomAD |
|
|
rs1603053378 CA414691138 |
480 | N>D | No |
ClinGen Ensembl |
|
|
rs780464657 CA10520314 |
480 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA335949171 rs756583263 |
482 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414691119 rs1245739176 |
483 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 484 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 484 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 484 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312096418 CA414691104 |
485 | D>H | No |
ClinGen gnomAD |
|
|
CA414691069 rs1204571044 |
489 | I>T | No |
ClinGen TOPMed |
|
|
rs1256643378 CA414691051 |
490 | S>N | No |
ClinGen TOPMed |
|
|
rs1334526530 CA414691022 |
494 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1202046194 CA414691012 |
495 | G>E | No |
ClinGen TOPMed |
|
|
CA414690970 rs1291657859 |
501 | G>D | No |
ClinGen gnomAD |
|
|
rs766235301 CA10520300 |
502 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA10520299 rs761898881 |
507 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs939200503 CA335949166 |
508 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414690888 rs1429881179 |
512 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs927768064 CA335949165 |
514 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1047867853 CA335949164 |
521 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10520295 rs775813010 |
522 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA414690810 rs1479007804 |
524 | N>D | No |
ClinGen gnomAD |
|
|
rs1424734653 CA414690807 |
524 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867628982 CA335949163 |
525 | E>K | No |
ClinGen Ensembl |
|
|
CA10520293 rs781679785 |
528 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520292 rs781679785 |
528 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414690749 rs771396267 |
533 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs771396267 CA10520291 |
533 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs148166792 CA10520290 |
533 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 533 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777465467 CA10520289 |
536 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369031459 CA10520288 |
538 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319764734 CA414690712 |
539 | Y>C | No |
ClinGen gnomAD |
|
|
CA414690715 rs1200717755 |
539 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 541 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778741971 CA10520286 |
542 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201102916 CA10520287 |
542 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA335949162 rs920661210 |
543 | V>D | No |
ClinGen Ensembl |
|
|
rs753589718 CA10520284 |
546 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs143841797 CA335949161 |
550 | V>I | No |
ClinGen ESP gnomAD |
|
|
rs760600209 CA10520282 |
551 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466815476 CA414690640 |
551 | M>L | No |
ClinGen gnomAD |
|
|
rs181578301 CA10520281 |
553 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181578301 CA10520280 |
553 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10520278 rs775620830 |
554 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775620830 CA10520279 |
554 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770013740 CA10520276 |
557 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1302540398 CA414690594 |
557 | R>L | No |
ClinGen TOPMed |
1 associated diseases with O75487
[MIM: 301026]: Keipert syndrome (KPTS)
An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. {ECO:0000269|PubMed:30982611}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. {ECO:0000269|PubMed:30982611}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O75487
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Glypican, conserved site | 254 - 277 | IPR019803 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of plasma membrane | The component of the plasma membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group, that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| Golgi lumen | The volume enclosed by the membranes of any cisterna or subcompartment of the Golgi apparatus, including the cis- and trans-Golgi networks. |
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway | Any coreceptor activity that is involved in Wnt signaling pathway, planar cell polarity pathway. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | Any process that modulates the frequency, rate or extent of neurotransmitter receptor localization to postsynaptic specialization membrane. |
| regulation of presynapse assembly | Any process that modulates the frequency, rate or extent of presynapse assembly. |
| regulation of protein localization to membrane | Any process that modulates the frequency, rate or extent of protein localization to membrane. |
| regulation of signal transduction | Any process that modulates the frequency, rate or extent of signal transduction. |
| synaptic membrane adhesion | The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane. |
| 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 and ending with a change in cell state. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARFGLPALL | CTLAVLSAAL | LAAELKSKSC | SEVRRLYVSK | GFNKNDAPLH | EINGDHLKIC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PQGSTCCSQE | MEEKYSLQSK | DDFKSVVSEQ | CNHLQAVFAS | RYKKFDEFFK | ELLENAEKSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NDMFVKTYGH | LYMQNSELFK | DLFVELKRYY | VVGNVNLEEM | LNDFWARLLE | RMFRLVNSQY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HFTDEYLECV | SKYTEQLKPF | GDVPRKLKLQ | VTRAFVAART | FAQGLAVAGD | VVSKVSVVNP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAQCTHALLK | MIYCSHCRGL | VTVKPCYNYC | SNIMRGCLAN | QGDLDFEWNN | FIDAMLMVAE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLEGPFNIES | VMDPIDVKIS | DAIMNMQDNS | VQVSQKVFQG | CGPPKPLPAG | RISRSISESA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FSARFRPHHP | EERPTTAAGT | SLDRLVTDVK | EKLKQAKKFW | SSLPSNVCND | ERMAAGNGNE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DDCWNGKGKS | RYLFAVTGNG | LANQGNNPEV | QVDTSKPDIL | ILRQIMALRV | MTSKMKNAYN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GNDVDFFDIS | DESSGEGSGS | GCEYQQCPSE | FDYNATDHAG | KSANEKADSA | GVRPGAQAYL |
| 550 | |||||
| LTVFCILFLV | MQREWR |