Q5SYC1
PR
Gene name |
CLVS2 (C6orf212, C6orf213, RLBP1L2) |
Protein name |
Clavesin-2 |
Names |
Retinaldehyde-binding protein 1-like 2, clathrin vesicle-associated Sec14 protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:134829 |
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 Q5SYC1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5SYC1-F1 | Predicted | AlphaFoldDB |
212 variants for Q5SYC1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA365561916 rs1582639444 |
2 | T>P | No |
ClinGen Ensembl |
|
|
CA3983350 rs776712989 |
4 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA365561940 rs1463929735 |
5 | Q>R | No |
ClinGen TOPMed |
|
|
CA3983351 rs761799697 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3983353 rs750217427 |
7 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA365561964 rs1176656472 |
9 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759838761 CA3983354 |
10 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs916396611 CA147032476 |
10 | P>L | No |
ClinGen gnomAD |
|
|
rs1298769762 CA365561985 |
13 | L>V | No |
ClinGen TOPMed |
|
|
rs767632937 CA3983355 |
14 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756163756 CA3983357 |
17 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777766688 CA3983358 |
17 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs546239763 CA3983359 |
18 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546239763 CA365562017 |
18 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365562020 rs1295926577 |
19 | E>G | No |
ClinGen gnomAD |
|
|
CA147032513 rs948816314 |
19 | E>Q | No |
ClinGen Ensembl |
|
|
CA3983360 rs760752566 |
20 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA147032521 rs903226635 |
21 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365562120 rs1323474245 |
25 | D>A | No |
ClinGen gnomAD |
|
|
CA365562168 rs1204146300 |
28 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365562232 rs1231212984 |
33 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365562265 rs1489543605 |
35 | R>K | No |
ClinGen gnomAD |
|
|
rs1380955653 CA365562287 |
36 | D>G | No |
ClinGen Ensembl |
|
|
CA365562314 rs1428438498 |
38 | V>I | No |
ClinGen gnomAD |
|
|
rs1419990746 CA365562438 |
48 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3983364 rs779584275 |
48 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930606558 CA147032592 |
49 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147032625 rs866387612 |
51 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 51 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582639593 CA365562507 |
53 | F>L | No |
ClinGen Ensembl |
|
|
rs1404970470 CA365562512 |
54 | I>V | No |
ClinGen gnomAD |
|
|
CA3983368 COSM202914 rs761889566 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 56 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147032640 rs769820536 |
59 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773211460 CA3983370 |
60 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365562724 rs1214197026 |
64 | H>Q | No |
ClinGen gnomAD |
|
|
rs138716795 CA3983371 |
66 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365562807 rs766143997 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766143997 CA3983372 |
70 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278554088 CA365562904 |
77 | E>V | No |
ClinGen TOPMed |
|
|
rs944871003 TCGA novel CA147032675 |
81 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA365562988 rs1582639669 |
82 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 83 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212663782 CA365563014 |
84 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415431298 CA365563023 |
85 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3983377 rs142757005 |
88 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1024154830 CA147032697 |
90 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA147032710 rs1040582884 |
92 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365563126 rs1040582884 |
92 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1697858 CA3983378 rs765718594 COSM1697857 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314483445 CA365563158 |
94 | P>H | No |
ClinGen TOPMed |
|
|
CA365563156 rs1320926130 |
94 | P>S | No |
ClinGen gnomAD |
|
|
rs1582639702 CA365563231 |
99 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 106 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3983381 rs758694783 |
107 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3983382 rs780425308 |
107 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365563363 rs1460549197 |
110 | N>K | No |
ClinGen TOPMed |
|
|
CA365563361 rs1168153983 |
110 | N>S | No |
ClinGen TOPMed |
|
|
CA3983385 rs780886412 |
113 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1175142348 CA365563424 |
115 | G>S | No |
ClinGen gnomAD |
|
|
rs747654154 CA3983386 |
117 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769912651 CA365563468 |
117 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3983388 rs773297906 |
119 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1374807361 CA365563514 |
121 | L>P | No |
ClinGen TOPMed |
|
|
rs868816004 CA147032799 |
122 | F>C | No |
ClinGen Ensembl |
|
|
CA365563547 rs1239014764 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs1444846050 CA365563567 |
125 | N>S | No |
ClinGen gnomAD |
|
|
CA3983390 rs770666703 |
128 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417284534 CA365565156 |
131 | Y>C | No |
ClinGen TOPMed |
|
|
CA3983411 rs771794699 |
135 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1365809776 CA365565179 |
135 | D>Y | No |
ClinGen gnomAD |
|
|
CA365565200 rs1481382001 |
138 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776841053 CA3983412 |
138 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1249173851 CA365565210 |
140 | I>V | No |
ClinGen gnomAD |
|
|
CA365565266 rs1435630578 |
144 | L>* | No |
ClinGen gnomAD |
|
|
rs1200391802 CA365565286 |
145 | E>K | No |
ClinGen gnomAD |
|
|
CA3983413 rs761982510 |
146 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365565322 rs1314251950 |
146 | A>V | No |
ClinGen gnomAD |
|
|
rs1481069558 CA365565382 |
151 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1168783014 CA365565419 |
156 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 160 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365565472 rs1582645379 |
164 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 167 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763406760 CA3983416 |
169 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365565556 rs1305041293 |
169 | F>Y | No |
ClinGen gnomAD |
|
|
rs766902762 CA3983417 |
170 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs759996346 CA3983419 |
171 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3983421 rs371688821 |
172 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371688821 CA3983420 |
172 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755782858 CA3983422 |
175 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139717598 CA365565692 |
178 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139717598 CA3983424 |
178 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139717598 CA3983425 |
178 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3983427 rs745736656 |
179 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs778898775 CA3983426 |
179 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1072829 COSM97983 CA365565735 rs1267203230 |
181 | R>* | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3983428 rs771884601 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365565796 rs1315707305 |
186 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 188 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147057190 rs1027663142 |
193 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA365561626 rs1386894257 |
194 | R>* | No |
ClinGen TOPMed |
|
|
rs750382549 CA3983445 |
194 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758309551 CA3983446 |
195 | F>C | No |
ClinGen ExAC |
|
|
rs984125127 CA147057221 |
197 | G>E | No |
ClinGen Ensembl |
|
|
CA3983448 rs746798840 |
199 | H>Q | No |
ClinGen ExAC |
|
|
CA3983449 rs769965224 |
202 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1562173239 CA365561689 |
203 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 205 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398526363 CA365561714 |
207 | I>V | No |
ClinGen TOPMed |
|
|
CA365561724 rs1463875733 |
208 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3983452 rs190170515 |
213 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365561760 rs1178291336 |
214 | I>V | No |
ClinGen TOPMed |
|
|
CA3983454 rs760174151 |
215 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774528339 CA3983453 |
215 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776064141 CA3983456 |
216 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3983458 rs764310165 |
222 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM3620114 rs376660185 CA3983459 COSM3620115 |
223 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1337157487 CA365561815 |
223 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 224 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 225 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299365216 CA365561832 |
225 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365562712 rs1250751506 |
234 | N>T | No |
ClinGen gnomAD |
|
|
rs769013044 CA3983493 |
235 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188061636 CA365562731 |
235 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365562739 rs1373249884 |
236 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777116578 CA3983494 |
239 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3983495 rs751775763 |
241 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148805106 COSM1072832 COSM1072833 CA365562832 CA3983496 |
243 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368778974 CA147062618 |
254 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA365563011 rs1331046233 |
257 | D>E | No |
ClinGen gnomAD |
|
|
CA365563038 rs770453643 |
259 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3983499 rs770453643 |
259 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365563091 rs1214260981 |
263 | R>T | No |
ClinGen gnomAD |
|
|
CA365563105 rs1295458491 |
264 | T>I | No |
ClinGen gnomAD |
|
|
CA147062635 rs936846825 |
264 | T>S | No |
ClinGen Ensembl |
|
|
rs1485440121 CA365563107 |
265 | L>M | No |
ClinGen TOPMed |
|
|
CA147062637 rs200964655 |
267 | D>E | No |
ClinGen Ensembl |
|
|
CA365563140 rs1361769098 |
268 | H>D | No |
ClinGen gnomAD |
|
|
CA365563147 rs1278497710 |
268 | H>R | No |
ClinGen TOPMed |
|
|
CA3983503 rs752596301 |
272 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA147062650 rs540970659 |
275 | E>K | No |
ClinGen 1000Genomes |
|
|
CA3983504 rs760560905 |
277 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146800301 COSM1440228 CA3983506 COSM1440229 |
278 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146800301 CA3983507 |
278 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3983508 rs780221084 |
279 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs140575101 CA3983509 |
280 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755563448 CA3983510 |
280 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA147062692 rs574635525 |
282 | S>G | No |
ClinGen 1000Genomes |
|
|
CA3983511 rs773758742 CA365563374 |
283 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390592246 CA365563368 |
283 | M>T | No |
ClinGen gnomAD |
|
|
rs1353133684 CA365563396 |
285 | V>A | No |
ClinGen TOPMed |
|
|
CA3983512 rs748619435 |
285 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3983513 rs770173535 |
287 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA365563414 rs1351884730 |
287 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA147062700 rs768633966 |
288 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365563479 rs778065897 |
292 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365563482 rs1385282857 |
292 | L>H | No |
ClinGen gnomAD |
|
|
CA3983514 rs778065897 |
292 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1582664964 CA917850884 |
293 | S>R | No |
ClinGen Ensembl |
|
|
rs553690624 CA3983516 |
294 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs553690624 CA3983515 |
294 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1354141119 CA365563518 |
295 | K>N | No |
ClinGen gnomAD |
|
|
rs760105345 CA147062715 |
297 | M>V | No |
ClinGen Ensembl |
|
|
rs1225432974 CA365563554 |
298 | K>T | No |
ClinGen gnomAD |
|
|
rs749652843 CA3983533 |
300 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3983536 rs144300596 |
301 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3983537 rs771515105 |
302 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA365564180 rs1400351690 |
306 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1036835127 CA147069590 |
307 | T>I | No |
ClinGen Ensembl |
|
|
rs368122478 CA3983540 |
308 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368122478 CA3983539 |
308 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3983543 COSM166493 rs765012137 |
311 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1072836 COSM1072837 rs530279493 CA3983544 |
311 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs530279493 CA147069640 |
311 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365564218 rs1232063430 |
312 | M>I | No |
ClinGen gnomAD |
|
|
rs759752707 CA3983545 |
312 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365564223 COSM1440232 rs1253828334 COSM1440233 |
313 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1697868 CA147069663 COSM1697867 rs865936663 |
313 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM739357 COSM739356 CA365564227 rs767545171 |
314 | K>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3983546 rs767545171 |
314 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365564236 rs1195832594 |
315 | N>S | No |
ClinGen gnomAD |
|
|
CA365564247 rs1483003101 |
316 | E>D | No |
ClinGen gnomAD |
|
|
rs140277962 CA3983547 |
316 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756685082 CA3983548 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA147069673 rs9490642 |
319 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 319 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365564281 rs1271475967 |
320 | M>T | No |
ClinGen gnomAD |
|
|
CA365564302 rs1329066424 |
321 | Q>K | No |
ClinGen TOPMed |
|
|
CA3983549 rs764576446 |
321 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs757568645 CA3983551 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365564323 rs1460562492 |
322 | P>S | No |
ClinGen TOPMed |
|
|
CA147069680 rs867787079 |
325 | S>P | No |
ClinGen Ensembl |
|
|
CA3983552 rs779298455 |
326 | L>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5SYC1
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol bisphosphate binding | Binding to phosphatidylinositol bisphosphate. |
| phosphatidylinositol-3,5-bisphosphate binding | Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UDX3 | SEC14L4 | SEC14-like protein 4 | Homo sapiens (Human) | PR |
| Q92503 | SEC14L1 | SEC14-like protein 1 | Homo sapiens (Human) | PR |
| B5MCN3 | SEC14L6 | Putative SEC14-like protein 6 | Homo sapiens (Human) | PR |
| Q9BTX7 | TTPAL | Alpha-tocopherol transfer protein-like | Homo sapiens (Human) | PR |
| Q8IUQ0 | CLVS1 | Clavesin-1 | Homo sapiens (Human) | PR |
| Q8R0F9 | Sec14l4 | SEC14-like protein 4 | Mus musculus (Mouse) | PR |
| Q9D4C9 | Clvs1 | Clavesin-1 | Mus musculus (Mouse) | PR |
| Q9D3D0 | Ttpal | Alpha-tocopherol transfer protein-like | Mus musculus (Mouse) | PR |
| Q8BG92 | Clvs2 | Clavesin-2 | Mus musculus (Mouse) | PR |
| A6JFQ6 | Clvs1 | Clavesin-1 | Rattus norvegicus (Rat) | PR |
| A6JUQ6 | Clvs2 | Clavesin-2 | Rattus norvegicus (Rat) | PR |
| Q09270 | C34C12.6 | CRAL-TRIO domain-containing protein C34C12.6 | Caenorhabditis elegans | PR |
| Q56ZI2 | PATL2 | Patellin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C59 | PATL4 | Patellin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56WK6 | PATL1 | Patellin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56Z59 | PATL3 | Patellin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXC6 | SFH5 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW3 | SFH7 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SI13 | SFH10 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IHJ0 | SFH8 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZE9 | SFH3 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4J7S8 | SFH9 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M0R2 | PATL5 | Patellin-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A34 | SFH12 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JVA6 | SFH6 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5SPP0 | clvs2 | Clavesin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTHLQAGLSP | ETLEKARLEL | NENPDTLHQD | IQEVRDMVIT | RPDIGFLRTD | DAFILRFLRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKFHHFEAFR | LLAQYFEYRQ | QNLDMFKSFK | ATDPGIKQAL | KDGFPGGLAN | LDHYGRKILV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LFAANWDQSR | YTLVDILRAI | LLSLEAMIED | PELQVNGFVL | IIDWSNFTFK | QASKLTPSML |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RLAIEGLQDS | FPARFGGIHF | VNQPWYIHAL | YTVIRPFLKE | KTRKRIFLHG | NNLNSLHQLI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HPEILPSEFG | GMLPPYDMGT | WARTLLDHEY | DDDSEYNVDS | YSMPVKEVEK | ELSPKSMKRS |
| 310 | 320 | ||||
| QSVVDPTVLK | RMDKNEEENM | QPLLSLD |