P55786
Gene name |
NPEPPS (PSA) |
Protein name |
Puromycin-sensitive aminopeptidase |
Names |
PSA, Cytosol alanyl aminopeptidase, AAP-S |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9520 |
EC number |
3.4.11.14: Aminopeptidases |
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
3 structures for P55786
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8SW0 | X-ray | 230 A | A | 46-919 | PDB |
| 8SW1 | X-ray | 365 A | A | 46-919 | PDB |
| AF-P55786-F1 | Predicted | AlphaFoldDB |
480 variants for P55786
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400036026 rs1342141916 |
2 | W>C | No |
ClinGen gnomAD |
|
|
CA400036040 rs1170436727 |
5 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA400036039 rs1170436727 |
5 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774749702 CA8624526 |
6 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA400036059 rs1443379208 |
8 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400036061 rs1443379208 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1443379208 CA400036060 |
8 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1390187618 CA400036067 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs1597803026 CA400036064 |
9 | S>P | No |
ClinGen Ensembl |
|
|
rs1485458781 CA400036072 |
10 | L>P | No |
ClinGen TOPMed |
|
|
rs1486959734 CA400036087 |
13 | R>G | No |
ClinGen gnomAD |
|
|
CA400036096 rs1248006550 |
14 | L>Q | No |
ClinGen TOPMed |
|
|
CA400036093 rs1423527512 |
14 | L>V | No |
ClinGen gnomAD |
|
|
rs1228566823 CA400036113 |
17 | L>F | No |
ClinGen TOPMed |
|
|
CA8624529 rs767758109 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1413728317 CA400036123 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA291252286 rs914958567 |
21 | P>L | No |
ClinGen TOPMed |
|
|
CA400036143 rs1435341349 |
22 | P>L | No |
ClinGen gnomAD |
|
|
rs1319395474 CA400036145 |
23 | P>T | No |
ClinGen gnomAD |
|
|
rs1362422126 CA400036153 |
24 | L>F | No |
ClinGen gnomAD |
|
|
CA8624531 rs756200893 |
26 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291252333 rs978902294 |
30 | S>G | No |
ClinGen TOPMed |
|
|
CA400036196 rs1319025173 |
31 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400036203 rs1209603116 |
32 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1463616847 CA400036215 |
34 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400036217 rs1428155053 |
34 | R>L | No |
ClinGen TOPMed |
|
|
rs1428155053 CA400036218 |
34 | R>P | No |
ClinGen TOPMed |
|
|
rs754918918 CA8624534 |
35 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA400036229 rs1477642683 |
36 | R>H | No |
ClinGen gnomAD |
|
|
CA8624535 rs778878338 |
37 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778878338 CA400036231 |
37 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409878657 CA400036239 |
38 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1157998929 CA400036250 |
39 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1195872902 CA400036243 |
39 | S>R | No |
ClinGen TOPMed |
|
|
CA400036264 rs1462601225 |
42 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA400036262 rs1462601225 |
42 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400036271 rs1437832619 |
43 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 43 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400036293 rs1436384311 |
46 | P>R | No |
ClinGen gnomAD |
|
|
CA400036317 rs1273518045 |
49 | R>S | No |
ClinGen gnomAD |
|
|
rs746589578 CA8624539 |
51 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 55 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567830915 CA400036368 |
57 | D>V | No |
ClinGen Ensembl |
|
|
CA400036373 rs1166234355 |
58 | V>F | No |
ClinGen TOPMed |
|
|
rs1430304838 CA400036382 |
59 | S>C | No |
ClinGen TOPMed |
|
|
CA8624543 rs769086867 |
61 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8624546 rs762187418 |
62 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762187418 CA8624545 |
62 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28482949 CA291252381 COSM228197 |
63 | Y>C | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1472815425 CA400036415 |
64 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181153632 CA400036417 |
65 | L>V | No |
ClinGen gnomAD |
|
|
CA400036426 rs1292264560 |
66 | C>S | No |
ClinGen gnomAD |
|
|
rs201212390 CA400036477 |
73 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291252395 rs888505585 |
80 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1264658244 CA400036615 |
82 | A>V | No |
ClinGen TOPMed |
|
|
rs753901730 CA8624550 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400036656 rs1410870274 |
84 | A>T | No |
ClinGen gnomAD |
|
|
rs765284224 CA8624552 |
85 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8624553 rs752623748 |
85 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180262323 CA400033464 |
86 | V>A | No |
ClinGen TOPMed |
|
|
rs578177730 CA291235269 |
87 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8624564 rs369570255 COSM188552 |
89 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs560492787 CA8624567 |
94 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484124629 CA400033665 |
100 | I>T | No |
ClinGen gnomAD |
|
|
rs1285989519 CA400033712 |
103 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1200778661 CA400033731 |
104 | T>I | No |
ClinGen gnomAD |
|
|
CA400033730 rs1200778661 |
104 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1025393835 CA291235301 |
111 | G>R | No |
ClinGen TOPMed |
|
|
CA400033860 rs1194768212 |
111 | G>V | No |
ClinGen gnomAD |
|
|
CA8624570 rs765341357 |
113 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750183773 CA8624609 |
114 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA400035389 rs1229281225 |
116 | H>Y | No |
ClinGen gnomAD |
|
|
CA400035503 rs1164148219 |
125 | E>Q | No |
ClinGen gnomAD |
|
|
rs536898445 CA8624614 |
135 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400035691 rs1238133898 |
139 | T>I | No |
ClinGen TOPMed |
|
|
CA8624628 rs766039929 |
141 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 145 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306219340 CA400036619 |
146 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8624631 rs764868510 |
157 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228138879 CA400036775 |
159 | F>V | No |
ClinGen TOPMed |
|
|
CA400036823 rs1277065947 |
165 | T>I | No |
ClinGen gnomAD |
|
|
rs757830863 CA8624633 |
168 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA400036843 rs1292872762 |
169 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781519164 COSM1630235 CA8624634 |
171 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA400036857 rs781519164 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291257376 rs746268471 |
172 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746268471 CA8624635 |
172 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780438466 CA8624637 |
173 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA291257380 rs902873342 |
173 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400036935 rs1555609380 |
181 | A>V | No |
ClinGen Ensembl |
|
|
CA400036996 rs1243706174 |
187 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400037030 rs1420308086 |
190 | C>Y | No |
ClinGen TOPMed |
|
|
rs1025542093 CA291259161 |
195 | A>G | No |
ClinGen TOPMed |
|
|
rs1162874219 CA400037103 |
196 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1276634547 CA400037122 |
197 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400037184 rs1342654153 |
201 | D>G | No |
ClinGen gnomAD |
|
|
CA400037190 rs1204140097 |
202 | I>V | No |
ClinGen gnomAD |
|
|
CA400037224 rs1187721160 |
207 | P>H | No |
ClinGen gnomAD |
|
|
CA400037221 rs1443775874 |
207 | P>S | No |
ClinGen gnomAD |
|
|
CA400037228 rs1236386989 |
208 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA400037540 rs898532030 |
218 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs898532030 CA291260557 |
218 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400037562 rs1189899043 |
219 | I>T | No |
ClinGen gnomAD |
|
|
CA400037599 rs1450619760 |
221 | R>Q | No |
ClinGen gnomAD |
|
|
CA400037592 rs1250491673 |
221 | R>W | No |
ClinGen gnomAD |
|
|
CA400037630 rs1227583166 |
223 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1227583166 CA400037632 |
223 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA291260563 rs1033662405 |
223 | P>S | No |
ClinGen TOPMed |
|
|
rs763445892 CA8624675 |
225 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400037730 rs1173410797 |
229 | N>D | No |
ClinGen gnomAD |
|
|
rs370952703 CA8624677 |
236 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400037854 rs1455389309 |
236 | A>V | No |
ClinGen TOPMed |
|
|
CA291260586 rs377728785 |
237 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766973996 CA8624678 |
237 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1567858647 CA919851993 |
241 | M>T | No |
ClinGen Ensembl |
|
|
rs149179597 CA8624679 |
243 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465095273 CA400038325 |
260 | S>L | No |
ClinGen TOPMed |
|
|
CA400038321 rs1182387784 |
260 | S>P | No |
ClinGen TOPMed |
|
|
rs1332630050 CA400038353 |
264 | V>A | No |
ClinGen gnomAD |
|
|
CA291260644 rs3968300 |
267 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1187226796 CA400038373 |
268 | V>I | No |
ClinGen gnomAD |
|
|
rs1268201255 CA400038409 |
273 | G>D | No |
ClinGen gnomAD |
|
|
rs777887981 CA8624684 |
276 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs541030331 CA291260701 |
279 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1435324499 CA400038465 |
281 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1435324499 CA400038466 |
281 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400038507 rs1236219870 |
286 | A>T | No |
ClinGen gnomAD |
|
|
rs571371035 CA8624692 COSM980458 |
297 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA400038599 rs1305676820 |
298 | V>A | No |
ClinGen TOPMed |
|
|
CA8624693 rs762579897 |
308 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400038682 rs1359438215 |
311 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223777723 CA400038697 |
313 | F>Y | No |
ClinGen gnomAD |
|
|
CA400038705 rs1184637475 |
314 | A>E | No |
ClinGen gnomAD |
|
|
rs1184637475 CA400038706 |
314 | A>V | No |
ClinGen gnomAD |
|
|
CA400038712 rs1408934803 |
315 | A>V | No |
ClinGen gnomAD |
|
|
rs1357778309 CA400038761 |
320 | N>K | No |
ClinGen gnomAD |
|
|
CA291260974 rs866591537 |
321 | W>C | No |
ClinGen Ensembl |
|
|
CA8624704 rs1809279 |
322 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA291260984 rs867359409 |
323 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 324 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209182656 CA400038797 |
326 | Y>C | No |
ClinGen TOPMed |
|
|
rs866465803 CA291260987 |
327 | R>M | No |
ClinGen Ensembl |
|
|
CA400039054 rs1445192910 |
328 | E>G | No |
ClinGen gnomAD |
|
|
CA8624729 rs763334933 COSM980460 |
330 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA400039086 rs1490108407 |
333 | I>T | No |
ClinGen gnomAD |
|
|
CA400039098 rs1196864162 |
335 | P>A | No |
ClinGen gnomAD |
|
|
rs1253473781 CA400039105 |
336 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 336 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 337 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400039123 COSM436757 rs751723632 |
338 | S>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8624731 rs751723632 |
338 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757336093 CA8624732 |
340 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA400039135 rs757336093 |
340 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1407980672 CA400039139 |
341 | S>A | No |
ClinGen gnomAD |
|
|
CA8624734 rs373998810 |
343 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8624735 rs756058723 |
343 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756058723 CA291261636 |
343 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8624737 rs749070520 |
345 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233076293 CA400039173 |
346 | V>A | No |
ClinGen gnomAD |
|
|
rs1419229034 CA400039175 |
347 | A>S | No |
ClinGen TOPMed |
|
|
rs1301570877 CA400039186 |
349 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400039301 rs1229972929 |
365 | M>T | No |
ClinGen gnomAD |
|
|
CA8624750 rs376523771 |
367 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8624751 rs762080539 |
367 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA8624754 rs756183447 |
372 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8624753 rs750512524 |
372 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8624755 rs766251900 |
374 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400039672 rs1175259727 |
378 | A>T | No |
ClinGen gnomAD |
|
|
rs1244354048 CA400039707 |
383 | Y>H | No |
ClinGen gnomAD |
|
|
CA8624762 rs758163229 |
384 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8624761 rs752513715 |
384 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1475917633 CA400039720 |
385 | C>Y | No |
ClinGen gnomAD |
|
|
CA8624764 rs746521440 |
387 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749861075 CA8624767 COSM706020 |
391 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 392 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8624770 rs762137955 |
394 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1268102362 CA400039839 |
401 | S>F | No |
ClinGen gnomAD |
|
|
rs1261967556 CA400039855 |
404 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1597868200 CA400039863 |
405 | T>P | No |
ClinGen Ensembl |
|
|
rs773439751 CA8624773 |
406 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773439751 CA8624774 |
406 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766544766 CA8624775 |
406 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759593353 CA8624777 |
414 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs759593353 CA8624778 |
414 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs759593353 CA400039923 |
414 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs752570522 CA8624780 |
415 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8624782 rs373465833 |
417 | H>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA8624783 rs756856093 |
418 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs780813459 COSM706019 CA8624784 |
419 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1374502129 CA400039954 |
419 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8624785 rs745361214 |
420 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763006639 CA8624814 |
421 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8624816 rs774243796 |
422 | S>I | No |
ClinGen ExAC |
|
|
CA400040031 rs1425120512 |
424 | G>V | No |
ClinGen gnomAD |
|
|
CA400040048 rs1363401900 |
425 | H>L | No |
ClinGen gnomAD |
|
|
rs1420145152 CA400040077 |
427 | S>F | No |
ClinGen TOPMed |
|
|
CA8624823 rs765944100 |
432 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM4151647 rs1307782333 CA400040139 |
432 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8624824 rs200616431 |
433 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA400040162 rs758980195 |
433 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs878860297 CA291264146 |
434 | D>E | No |
ClinGen Ensembl |
|
|
rs564351828 CA8624826 |
434 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8624827 rs747422131 |
435 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577953048 CA8624828 |
436 | I>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1388937997 CA400040196 |
436 | I>V | No |
ClinGen gnomAD |
|
|
rs1196800708 CA400040246 |
439 | S>N | No |
ClinGen gnomAD |
|
|
CA8624830 rs746157900 |
440 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770128195 CA8624831 |
446 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242914548 CA400040333 |
446 | R>Q | No |
ClinGen TOPMed |
|
|
CA8624832 rs775761519 |
449 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8624833 rs749299161 |
450 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8624834 rs768671345 |
452 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774109901 CA8624835 |
452 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8624836 rs761684324 |
453 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA400040447 rs1170079054 |
454 | D>E | No |
ClinGen gnomAD |
|
|
CA291264440 rs1047405858 |
457 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400040528 rs1285385998 |
458 | K>R | No |
ClinGen gnomAD |
|
|
CA291264444 rs909768697 |
462 | N>S | No |
ClinGen TOPMed |
|
|
CA400040588 rs768565275 |
463 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1222958652 CA400040593 |
463 | M>T | No |
ClinGen gnomAD |
|
|
CA8624858 rs768565275 |
463 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA400040644 rs1318655470 |
466 | T>I | No |
ClinGen gnomAD |
|
|
rs1241323214 CA400040649 |
467 | K>E | No |
ClinGen gnomAD |
|
|
CA8624861 rs771988486 |
470 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400040693 rs1597870008 |
470 | Q>K | No |
ClinGen Ensembl |
|
|
rs762882775 CA8624862 |
471 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469652082 CA400040736 |
472 | N>S | No |
ClinGen gnomAD |
|
|
rs1597870039 CA400040746 |
473 | A>P | No |
ClinGen Ensembl |
|
|
rs1170283254 CA400040782 |
476 | E>K | No |
ClinGen gnomAD |
|
|
rs753943738 CA400041215 |
477 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs755227467 CA8624878 |
478 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755227467 CA8624877 |
478 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356381033 CA400041226 |
479 | W>L | No |
ClinGen gnomAD |
|
|
rs772025328 CA8624880 |
480 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748190978 CA8624879 |
480 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442976554 CA400041230 |
480 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777635759 CA8624881 |
484 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315475426 CA400041282 |
487 | G>C | No |
ClinGen gnomAD |
|
|
CA400041283 rs1358390170 |
487 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8624883 rs770562706 |
490 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8624882 rs200634700 |
490 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190795420 CA8624885 |
501 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8624886 rs200095837 |
507 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161716310 CA400041434 |
509 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA291266693 rs919330065 |
509 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 510 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421884305 CA400041444 |
511 | E>K | No |
ClinGen gnomAD |
|
|
CA400041449 rs1462350113 |
511 | E>V | No |
ClinGen gnomAD |
|
|
CA8624899 rs370170213 |
514 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8624901 rs199810184 |
519 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463451485 CA400041549 |
524 | K>Q | No |
ClinGen gnomAD |
|
|
CA400041564 rs1325125540 |
525 | K>N | No |
ClinGen gnomAD |
|
|
rs961645229 CA291268565 |
529 | G>A | No |
ClinGen Ensembl |
|
|
rs866067274 CA291268563 |
529 | G>S | No |
ClinGen Ensembl |
|
|
rs1229014394 CA400041655 |
537 | C>F | No |
ClinGen TOPMed |
|
|
CA8624915 rs765389403 |
542 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA291269621 rs928030160 |
543 | P>R | No |
ClinGen Ensembl |
|
|
rs758613691 CA8624917 |
545 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA291269630 rs917855351 |
546 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs374390998 CA8624919 |
548 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8624920 rs757181102 |
548 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244348186 CA400041730 |
549 | S>G | No |
ClinGen TOPMed |
|
|
CA8624921 rs781144700 |
552 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322333615 CA400041764 |
553 | N>K | No |
ClinGen TOPMed |
|
|
CA291269639 rs769548905 |
553 | N>S | No |
ClinGen Ensembl |
|
|
rs1567866288 CA400041767 |
554 | Q>E | No |
ClinGen Ensembl |
|
|
CA400041769 rs1597879969 |
554 | Q>R | No |
ClinGen Ensembl |
|
|
rs868140358 CA291269643 |
555 | A>T | No |
ClinGen Ensembl |
|
|
rs893757112 CA291269644 |
556 | K>E | No |
ClinGen Ensembl |
|
|
CA400041788 rs1367130076 |
557 | L>P | No |
ClinGen gnomAD |
|
|
CA8624923 rs755882812 |
560 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779859570 CA400041810 CA8624924 |
561 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1011508541 CA291269654 |
563 | K>Q | No |
ClinGen Ensembl |
|
|
CA400041828 rs1392593867 |
563 | K>R | No |
ClinGen gnomAD |
|
|
rs1410240001 CA400041842 |
565 | E>G | No |
ClinGen gnomAD |
|
|
rs1378289577 CA400041854 |
566 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432596669 CA400041870 |
569 | V>L | No |
ClinGen TOPMed |
|
|
rs1042924116 CA291269660 |
575 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400041913 rs1042924116 |
575 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410996110 CA400041937 |
578 | W>S | No |
ClinGen TOPMed |
|
|
rs889646408 CA291269665 |
579 | V>L | No |
ClinGen Ensembl |
|
|
CA400041985 rs1317324291 |
583 | L>S | No |
ClinGen gnomAD |
|
|
CA8624939 rs751380612 |
586 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 592 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368712014 CA8624940 COSM365100 |
594 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA291270796 rs371661038 |
595 | S>C | No |
ClinGen ESP |
|
|
CA400042071 rs750310068 |
596 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs750310068 CA8624941 |
596 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400042076 rs1429942696 |
597 | M>T | No |
ClinGen gnomAD |
|
|
CA400042073 rs1253735072 |
597 | M>V | No |
ClinGen gnomAD |
|
|
CA8624942 rs756003607 COSM3402962 |
606 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201311692 CA8624943 |
606 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400042137 rs201311692 |
606 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs993407853 CA291270827 |
611 | P>A | No |
ClinGen TOPMed |
|
|
CA8624945 rs148467949 |
611 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8624946 rs778655999 |
612 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400042173 rs1384161715 |
613 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400042223 rs1279033599 |
620 | N>S | No |
ClinGen gnomAD |
|
|
rs1216851791 CA400042237 |
622 | L>F | No |
ClinGen gnomAD |
|
|
CA400042243 rs1259047540 |
623 | F>V | No |
ClinGen gnomAD |
|
|
CA8624955 rs768889388 |
626 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768889388 CA8624954 |
626 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1042345776 CA291271302 |
627 | R>G | No |
ClinGen TOPMed |
|
|
CA400042281 rs1299086033 |
627 | R>Q | No |
ClinGen gnomAD |
|
|
rs761805395 CA8624956 |
630 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs902431051 CA291271314 |
630 | I>T | No |
ClinGen Ensembl |
|
|
rs767705802 CA8624957 |
631 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760746804 CA8624959 |
633 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA400042317 rs1218606403 |
633 | T>I | No |
ClinGen gnomAD |
|
|
rs1159636357 CA400042322 |
634 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1318549795 CA400042334 |
636 | V>F | No |
ClinGen gnomAD |
|
|
rs754757916 CA8624962 |
640 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753721946 CA8624961 |
640 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224186232 CA400042377 |
642 | A>V | No |
ClinGen gnomAD |
|
|
CA8624963 rs778709375 |
645 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 646 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400042414 rs1177199481 |
648 | N>D | No |
ClinGen TOPMed |
|
|
rs1477386735 CA400042417 |
648 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400042434 rs1423658969 |
650 | T>I | No |
ClinGen gnomAD |
|
|
CA291271387 rs976054298 |
651 | V>I | No |
ClinGen TOPMed |
|
|
rs1418122853 CA400042458 |
654 | D>N | No |
ClinGen gnomAD |
|
|
rs1325729233 CA400042466 |
655 | L>V | No |
ClinGen gnomAD |
|
|
rs746468578 CA8624967 |
657 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs746468578 CA400042478 |
657 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1234335494 CA400042480 |
657 | C>Y | No |
ClinGen TOPMed |
|
|
CA400042501 rs1273062229 |
660 | G>E | No |
ClinGen gnomAD |
|
|
rs756644470 CA400042508 |
661 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756644470 CA8624968 |
661 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308282984 CA400042523 |
664 | T>A | No |
ClinGen gnomAD |
|
|
CA400042551 rs1290111773 |
668 | H>R | No |
ClinGen gnomAD |
|
|
rs780489427 CA8624969 |
669 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369577595 CA291271406 |
670 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 670 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8624970 rs376975784 |
672 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8624971 rs371362770 |
674 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291271417 rs374288577 |
675 | I>T | No |
ClinGen Ensembl |
|
|
rs1277474931 CA400042612 |
677 | E>Q | No |
ClinGen TOPMed |
|
|
CA400042616 rs1179758248 |
677 | E>V | No |
ClinGen gnomAD |
|
|
CA400042642 rs1165267378 |
681 | D>Y | No |
ClinGen gnomAD |
|
|
rs1311858358 CA400042668 |
684 | S>L | No |
ClinGen TOPMed |
|
|
CA291271439 rs372571754 |
685 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs200402839 CA8624973 |
686 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866093835 CA291271445 |
686 | I>V | No |
ClinGen gnomAD |
|
|
rs772150779 CA8624974 |
687 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA400042679 rs1447456306 |
687 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 688 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597883838 CA400042685 |
688 | E>Q | No |
ClinGen Ensembl |
|
|
CA8624976 rs760783596 |
691 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8624975 rs773386794 |
691 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776656178 CA8624978 |
695 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161261847 CA400042740 |
696 | P>A | No |
ClinGen Ensembl |
|
|
CA8624979 COSM377888 rs759536164 |
696 | P>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8624980 rs765149025 |
697 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8624996 rs776850173 |
702 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 709 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400044392 rs1442169634 |
712 | K>R | No |
ClinGen gnomAD |
|
|
rs1249237212 CA400044494 |
720 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8624998 rs368658252 |
720 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8624999 rs370834075 |
721 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193039330 CA400044545 |
724 | E>A | No |
ClinGen gnomAD |
|
|
CA8625000 rs762616490 |
726 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA291243396 rs967339486 |
726 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375012383 CA8625001 |
727 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291243398 rs754973654 |
727 | R>H | No |
ClinGen Ensembl |
|
|
CA8625002 rs751154546 |
728 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1173048259 CA400044588 |
728 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8625003 rs756889043 |
729 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400044618 rs1299715722 |
730 | K>R | No |
ClinGen gnomAD |
|
|
rs1217400856 CA400044695 |
736 | K>E | No |
ClinGen TOPMed |
|
|
rs1398930723 CA400044713 |
737 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749901711 CA400044722 |
738 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1284375523 CA400044717 |
738 | I>V | No |
ClinGen TOPMed |
|
|
rs1395763439 CA400044725 |
739 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400044737 rs1236114933 |
740 | S>T | No |
ClinGen gnomAD |
|
|
rs1344813666 CA400044748 |
741 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1274277810 CA400044775 |
745 | S>C | No |
ClinGen TOPMed |
|
|
CA400044787 rs1288508942 |
746 | P>L | No |
ClinGen gnomAD |
|
|
CA291244338 rs766689858 |
761 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 761 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760060357 CA8625026 |
762 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749954965 CA8625025 |
762 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA400044928 rs1597893911 |
765 | K>N | No |
ClinGen Ensembl |
|
|
rs1186343139 CA400044947 |
766 | L>F | No |
ClinGen gnomAD |
|
|
CA8625040 rs774177913 |
771 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 771 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 771 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1521326 CA8625041 rs761544720 |
772 | M>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 775 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8625042 rs771739427 |
778 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA400045049 rs1296819543 |
780 | E>K | No |
ClinGen gnomAD |
|
|
CA400045059 rs1374889598 |
781 | R>K | No |
ClinGen gnomAD |
|
|
CA8625044 rs373373883 |
782 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 783 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM341750 CA8625046 rs368913646 |
785 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs923589103 CA400045087 |
786 | T>A | No |
ClinGen TOPMed |
|
|
CA291248767 rs923589103 |
786 | T>S | No |
ClinGen TOPMed |
|
|
CA8625047 rs763421365 |
788 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8625048 rs764648796 |
789 | P>S | No |
ClinGen ExAC |
|
|
CA400045119 rs1286874801 |
791 | L>P | No |
ClinGen TOPMed |
|
|
rs1286874801 CA400045120 |
791 | L>R | No |
ClinGen TOPMed |
|
|
rs767865517 CA8625051 |
792 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202286112 CA400045128 |
793 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1483433089 CA400045159 |
797 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756353349 CA8625053 |
800 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1336345457 CA400045180 |
801 | S>T | No |
ClinGen TOPMed |
|
|
COSM980467 CA291249212 rs1051959782 |
805 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA400045222 rs1218515200 |
805 | R>H | No |
ClinGen gnomAD |
|
|
CA291249230 rs376103009 |
810 | V>A | No |
ClinGen ESP |
|
|
rs1355531614 CA400045254 |
810 | V>L | No |
ClinGen gnomAD |
|
|
CA8625082 rs748154171 |
811 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777480931 CA8625084 |
814 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA400045331 rs770523437 |
822 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770523437 CA8625086 |
822 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251556685 CA400045346 |
824 | R>S | No |
ClinGen gnomAD |
|
|
CA400045366 rs1187085561 |
827 | A>V | No |
ClinGen gnomAD |
|
|
CA400045377 rs1159530539 |
829 | K>E | No |
ClinGen gnomAD |
|
|
CA400045385 rs1407523015 |
830 | F>L | No |
ClinGen gnomAD |
|
|
rs745384995 CA8625088 |
832 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs769487819 CA8625089 |
838 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA8625090 rs775135339 |
839 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA291249336 rs775135339 |
839 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1366987487 CA400045453 |
839 | Y>H | No |
ClinGen gnomAD |
|
|
rs762449893 CA8625091 |
841 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777683276 CA8625093 |
843 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1396433988 CA400045485 |
844 | G>R | No |
ClinGen TOPMed |
|
|
rs766511851 CA8625095 |
849 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA291249936 rs749564117 |
854 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8625123 rs375636986 |
856 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8625125 rs369531389 |
857 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781079518 CA8625124 |
857 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 859 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8625127 rs755850863 |
861 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8625126 rs755850863 |
861 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA291249963 rs1028690165 |
862 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8625128 rs748809162 |
866 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771324665 CA400045761 |
867 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8625131 rs747615836 |
867 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8625133 rs777006725 |
868 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA400045767 rs1252188596 |
868 | V>G | No |
ClinGen gnomAD |
|
|
CA400045764 rs777006725 |
868 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1259070027 CA400045853 |
870 | A>T | No |
ClinGen gnomAD |
|
|
CA8625142 rs34598464 |
873 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8625141 rs34598464 |
873 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1272454413 CA400045957 |
877 | A>S | No |
ClinGen gnomAD |
|
|
CA400045984 rs1467019985 |
879 | S>L | No |
ClinGen gnomAD |
|
|
rs753598374 CA8625145 |
881 | E>G | No |
ClinGen ExAC |
|
|
CA8625144 rs766140719 |
881 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754579242 CA8625146 |
882 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400046016 rs1179179896 |
882 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA291251619 rs747566073 |
888 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA400046097 rs1457953803 |
888 | C>Y | No |
ClinGen gnomAD |
|
|
rs757816506 CA8625149 |
890 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA400046186 rs1333810079 |
895 | A>T | No |
ClinGen gnomAD |
|
|
rs1176163312 CA400046206 |
897 | W>C | No |
ClinGen TOPMed |
|
|
CA400046226 rs1454274189 |
900 | R>Q | No |
ClinGen gnomAD |
|
|
rs746245242 CA8625151 |
903 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1171430735 CA400046251 |
904 | S>N | No |
ClinGen gnomAD |
|
|
CA400046271 rs1391079111 |
907 | Q>K | No |
ClinGen gnomAD |
|
|
CA400046275 rs1567876509 |
907 | Q>R | No |
ClinGen Ensembl |
|
|
rs1305104459 CA400046283 |
908 | Y>C | No |
ClinGen gnomAD |
|
|
rs1305104459 CA400046282 |
908 | Y>S | No |
ClinGen gnomAD |
|
|
rs1233974124 CA400046288 |
909 | L>F | No |
ClinGen gnomAD |
|
|
CA8625152 rs201842079 |
912 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763783960 CA291251654 |
912 | R>W | No |
ClinGen gnomAD |
|
|
CA291251655 rs891961141 |
913 | K>R | No |
ClinGen Ensembl |
|
|
rs1193766333 CA400046347 |
919 | V>M | No |
ClinGen gnomAD |
No associated diseases with P55786
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.11.14 | Aminopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. |
| metalloaminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| zinc ion binding | Binding to a zinc ion (Zn). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to hypoxia | 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| peptide catabolic process | The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. |
| positive regulation of protein targeting to mitochondrion | Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40462 | TMA108 | Protein TMA108 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32454 | APE2 | Aminopeptidase 2, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P79171 | ANPEP | Aminopeptidase N | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q9UIQ6 | LNPEP | Leucyl-cystinyl aminopeptidase | Homo sapiens (Human) | PR |
| Q9NZ08 | ERAP1 | Endoplasmic reticulum aminopeptidase 1 | Homo sapiens (Human) | PR |
| P15144 | ANPEP | Aminopeptidase N | Homo sapiens (Human) | PR |
| Q9UKU6 | TRHDE | Thyrotropin-releasing hormone-degrading ectoenzyme | Homo sapiens (Human) | PR |
| Q8C129 | Lnpep | Leucyl-cystinyl aminopeptidase | Mus musculus (Mouse) | PR |
| Q8K093 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Mus musculus (Mouse) | PR |
| P97449 | Anpep | Aminopeptidase N | Mus musculus (Mouse) | PR |
| Q9EQH2 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Mus musculus (Mouse) | PR |
| Q11011 | Npepps | Puromycin-sensitive aminopeptidase | Mus musculus (Mouse) | PR |
| P15145 | ANPEP | Aminopeptidase N | Sus scrofa (Pig) | PR |
| Q10836 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Rattus norvegicus (Rat) | PR |
| Q9JJ22 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Rattus norvegicus (Rat) | PR |
| P97629 | Lnpep | Leucyl-cystinyl aminopeptidase | Rattus norvegicus (Rat) | PR |
| P15684 | Anpep | Aminopeptidase N | Rattus norvegicus (Rat) | PR |
| Q0J5V5 | Os08g0398700 | Aminopeptidase M1-B | Oryza sativa subsp japonica (Rice) | PR |
| Q6Z6L4 | Os02g0218200 | Aminopeptidase M1-A | Oryza sativa subsp japonica (Rice) | PR |
| Q6K4E7 | Os09g0362800 | Aminopeptidase M1-D | Oryza sativa subsp japonica (Rice) | PR |
| Q17405 | AC3.5 | Aminopeptidase-like protein AC3.5 | Caenorhabditis elegans | PR |
| Q8VZH2 | APM1 | Aminopeptidase M1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWLAAAAPSL | ARRLLFLGPP | PPPLLLLVFS | RSSRRRLHSL | GLAAMPEKRP | FERLPADVSP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INYSLCLKPD | LLDFTFEGKL | EAAAQVRQAT | NQIVMNCADI | DIITASYAPE | GDEEIHATGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NYQNEDEKVT | LSFPSTLQTG | TGTLKIDFVG | ELNDKMKGFY | RSKYTTPSGE | VRYAAVTQFE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ATDARRAFPC | WDEPAIKATF | DISLVVPKDR | VALSNMNVID | RKPYPDDENL | VEVKFARTPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MSTYLVAFVV | GEYDFVETRS | KDGVCVRVYT | PVGKAEQGKF | ALEVAAKTLP | FYKDYFNVPY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLPKIDLIAI | ADFAAGAMEN | WGLVTYRETA | LLIDPKNSCS | SSRQWVALVV | GHELAHQWFG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLVTMEWWTH | LWLNEGFASW | IEYLCVDHCF | PEYDIWTQFV | SADYTRAQEL | DALDNSHPIE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSVGHPSEVD | EIFDAISYSK | GASVIRMLHD | YIGDKDFKKG | MNMYLTKFQQ | KNAATEDLWE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SLENASGKPI | AAVMNTWTKQ | MGFPLIYVEA | EQVEDDRLLR | LSQKKFCAGG | SYVGEDCPQW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MVPITISTSE | DPNQAKLKIL | MDKPEMNVVL | KNVKPDQWVK | LNLGTVGFYR | TQYSSAMLES |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLPGIRDLSL | PPVDRLGLQN | DLFSLARAGI | ISTVEVLKVM | EAFVNEPNYT | VWSDLSCNLG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ILSTLLSHTD | FYEEIQEFVK | DVFSPIGERL | GWDPKPGEGH | LDALLRGLVL | GKLGKAGHKA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TLEEARRRFK | DHVEGKQILS | ADLRSPVYLT | VLKHGDGTTL | DIMLKLHKQA | DMQEEKNRIE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RVLGATLLPD | LIQKVLTFAL | SEEVRPQDTV | SVIGGVAGGS | KHGRKAAWKF | IKDNWEELYN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RYQGGFLISR | LIKLSVEGFA | VDKMAGEVKA | FFESHPAPSA | ERTIQQCCEN | ILLNAAWLKR |
| 910 | |||||
| DAESIHQYLL | QRKASPPTV |