P47972
PR
Gene name |
NPTX2 |
Protein name |
Neuronal pentraxin-2 |
Names |
NP2, Neuronal pentraxin II, NP-II |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4885 |
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 P47972
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P47972-F1 | Predicted | AlphaFoldDB |
407 variants for P47972
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA368413887 rs1438425126 |
7 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 8 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368413900 rs1200063658 |
9 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368413911 rs1200136194 |
10 | A>V | No |
ClinGen TOPMed |
|
|
CA368413922 rs1265628191 |
12 | A>G | No |
ClinGen TOPMed |
|
|
CA368413920 rs1411978838 |
12 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA368413928 rs1324493867 |
13 | V>A | No |
ClinGen gnomAD |
|
|
CA163716452 rs1036945297 |
15 | A>S | No |
ClinGen TOPMed |
|
|
rs1441754734 CA368413955 |
18 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1441754734 CA368413953 |
18 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897008796 CA163716453 |
19 | D>E | No |
ClinGen TOPMed |
|
|
rs995333515 CA163716454 |
20 | S>R | No |
ClinGen TOPMed |
|
|
CA368413974 rs1305796791 |
20 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368413994 rs1384180858 |
24 | G>R | No |
ClinGen TOPMed |
|
|
CA368414013 rs1297775623 |
26 | R>H | No |
ClinGen TOPMed |
|
|
rs574102944 CA163716457 |
26 | R>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1341239625 CA368414022 |
28 | V>M | No |
ClinGen gnomAD |
|
|
CA368414046 rs1272473715 |
31 | A>S | No |
ClinGen gnomAD |
|
|
CA368414053 rs1173676053 |
32 | L>P | No |
ClinGen TOPMed |
|
|
rs1019241535 CA368414058 |
33 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA163716459 rs1019241535 |
33 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1195407169 CA368414056 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs900844232 CA163716460 |
34 | P>L | No |
ClinGen TOPMed |
|
|
rs1427375919 CA368414076 |
36 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368414118 rs1263487042 |
42 | P>L | No |
ClinGen TOPMed |
|
|
rs769923468 CA4358351 |
45 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368414133 rs1394191245 |
45 | A>V | No |
ClinGen gnomAD |
|
|
CA163716462 rs1021190930 |
47 | P>S | No |
ClinGen TOPMed |
|
|
CA368414155 rs1280125596 |
48 | M>R | No |
ClinGen TOPMed |
|
|
rs773109863 CA4358352 |
48 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA368414170 rs1201028338 |
50 | G>D | No |
ClinGen TOPMed |
|
|
CA368414187 rs1382950707 |
53 | Q>* | No |
ClinGen gnomAD |
|
|
CA368414192 rs1344183295 |
53 | Q>H | No |
ClinGen TOPMed |
|
|
rs1328359806 CA368414243 |
61 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA163716464 rs979641050 |
61 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4358353 rs115375965 |
62 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA163716465 rs959447524 |
63 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1215526983 CA368414266 |
65 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368414278 rs1485271174 |
67 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368414283 rs1205162753 |
68 | E>Q | No |
ClinGen gnomAD |
|
|
CA163716466 rs990902631 |
69 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1421748170 CA368414303 |
71 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1421748170 CA368414301 |
71 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1408916204 CA368414315 |
73 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368414323 rs1584139306 |
74 | K>Q | No |
ClinGen Ensembl |
|
|
CA368414328 rs1417648756 |
74 | K>R | No |
ClinGen gnomAD |
|
|
CA163716468 rs932379106 |
76 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368414343 rs932379106 |
76 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368414344 rs1257185149 |
77 | L>M | No |
ClinGen TOPMed |
|
|
rs1217095980 CA368414360 |
79 | A>V | No |
ClinGen TOPMed |
|
|
rs1284961834 CA368414365 |
80 | Q>R | No |
ClinGen TOPMed |
|
|
CA4358355 rs774900455 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163716469 rs555892649 |
81 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 82 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163716472 rs530554491 |
86 | E>* | No |
ClinGen 1000Genomes |
|
|
rs759961650 CA4358356 |
86 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA368414416 rs1413236893 |
88 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1041956416 CA368414421 |
89 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1041956416 CA163716473 |
89 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA163716474 rs903351849 |
90 | K>R | No |
ClinGen Ensembl |
|
|
CA368414438 rs1562848659 |
92 | A>G | No |
ClinGen Ensembl |
|
|
rs1000347891 CA163716475 |
92 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368414445 rs1316200870 |
93 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1316200870 CA368414444 |
93 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368414441 rs1304826131 |
93 | R>S | No |
ClinGen gnomAD |
|
|
rs1458147262 CA368414455 |
95 | E>Q | No |
ClinGen TOPMed |
|
|
CA368414462 rs1054963880 |
96 | G>R | No |
ClinGen TOPMed |
|
|
rs1054963880 CA163716476 |
96 | G>W | No |
ClinGen TOPMed |
|
|
rs1484387852 CA368414473 |
98 | A>S | No |
ClinGen gnomAD |
|
|
rs1209774043 CA368414477 |
98 | A>V | No |
ClinGen gnomAD |
|
|
rs753281087 CA4358358 |
100 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252769961 CA368414493 |
101 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1486223038 CA368414504 |
103 | R>C | No |
ClinGen gnomAD |
|
|
CA368414512 rs1190437614 |
104 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA163716478 rs894590462 |
105 | A>T | No |
ClinGen TOPMed |
|
|
CA163716479 rs1048230787 |
107 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4358360 rs761018488 |
108 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024300439 CA163716480 |
108 | T>M | No |
ClinGen Ensembl |
|
|
CA4358361 rs763670265 |
109 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365642878 CA368414539 |
109 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 110 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173271518 CA368414554 |
111 | D>E | No |
ClinGen gnomAD |
|
|
rs1376248081 CA368414557 |
112 | T>A | No |
ClinGen gnomAD |
|
|
rs1350776016 CA368414560 |
112 | T>I | No |
ClinGen TOPMed |
|
|
rs1372341951 CA368414564 |
113 | M>T | No |
ClinGen gnomAD |
|
|
CA4358363 rs753270467 |
113 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414571 rs1482799387 |
114 | G>R | No |
ClinGen Ensembl |
|
|
CA4358364 rs756966706 |
115 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368414576 rs1391935921 |
115 | D>N | No |
ClinGen gnomAD |
|
|
rs1391935921 CA368414578 |
115 | D>Y | No |
ClinGen gnomAD |
|
|
CA368414591 rs1584139472 |
117 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 117 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778505644 CA4358365 |
118 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA368414595 rs1232880839 |
118 | R>W | No |
ClinGen gnomAD |
|
|
rs1201985032 CA368414605 |
119 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA368414599 rs1349533496 |
119 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1349533496 CA368414598 |
119 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368414610 rs1480491728 |
120 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368414607 rs1231589951 |
120 | P>S | No |
ClinGen gnomAD |
|
|
rs900873660 CA163716483 |
121 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs900873660 CA368414612 |
121 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4358368 rs779672541 |
124 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs867688086 CA163716484 |
124 | V>L | No |
ClinGen gnomAD |
|
|
rs867688086 CA368414631 |
124 | V>M | No |
ClinGen gnomAD |
|
|
CA368414635 rs1428846439 |
125 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1168563140 CA368414648 |
126 | Q>P | No |
ClinGen gnomAD |
|
|
rs1353759934 CA368414653 |
127 | L>F | No |
ClinGen gnomAD |
|
|
rs866382612 CA163716485 |
129 | R>H | No |
ClinGen Ensembl |
|
|
CA163716489 rs866771070 |
135 | K>N | No |
ClinGen Ensembl |
|
|
CA368414704 rs1439544581 |
135 | K>T | No |
ClinGen gnomAD |
|
|
rs746981096 CA4358369 |
136 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4358370 rs768465529 |
137 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414719 rs768465529 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414735 rs1435374058 |
140 | S>C | No |
ClinGen TOPMed |
|
|
rs867447393 CA163716491 |
140 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 141 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962875557 CA163716492 |
141 | L>R | No |
ClinGen gnomAD |
|
|
rs866481959 CA163716494 |
142 | E>* | No |
ClinGen Ensembl |
|
|
CA4358389 rs369837290 |
145 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551668087 CA4358391 |
146 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1316946787 CA368414798 |
147 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4358394 rs150623174 |
149 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150623174 CA4358393 |
149 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4358396 rs561845364 |
151 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358395 rs561845364 |
151 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358397 rs769255672 |
153 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764729364 CA368414847 |
156 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764729364 CA4358400 |
156 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414854 rs1447627588 |
157 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1164201788 CA368414867 |
158 | F>L | No |
ClinGen TOPMed |
|
|
rs772697121 CA368414869 |
159 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414868 rs772697121 |
159 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414870 rs762662427 |
159 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762662427 CA4358402 |
159 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772697121 CA4358401 |
159 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765917928 CA4358403 |
161 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368414882 rs1232537687 |
161 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163716675 rs549106248 |
164 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs1468590641 CA368414913 |
165 | R>P | No |
ClinGen gnomAD |
|
|
rs1239146396 CA368414910 |
165 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs756061169 CA4358408 |
167 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201787941 CA4358411 |
168 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4358410 rs779189789 |
168 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780390990 CA163716677 |
169 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1278661100 CA368414944 |
171 | R>K | No |
ClinGen TOPMed |
|
|
rs1342636130 CA368414954 |
172 | Q>R | No |
ClinGen gnomAD |
|
|
rs1440706929 CA368414960 |
173 | L>V | No |
ClinGen gnomAD |
|
|
CA4358413 rs565519639 |
175 | R>C | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4358414 rs747205631 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA163716679 rs747205631 |
175 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368414980 rs1584140525 |
176 | K>N | No |
ClinGen Ensembl |
|
|
rs1584140529 CA368414986 |
177 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 179 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4358417 rs748665307 |
180 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs371517261 CA368415019 |
182 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772750070 CA368415013 |
182 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772750070 CA4358419 |
182 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415025 CA163716681 rs975561111 |
183 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs139692043 CA4358422 |
183 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4358421 COSM3765374 rs770430126 |
183 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759164197 CA4358423 |
186 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368415047 rs1173940804 |
187 | L>P | No |
ClinGen gnomAD |
|
|
rs1173940804 CA368415048 |
187 | L>R | No |
ClinGen gnomAD |
|
|
rs767232205 CA4358424 |
188 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1481521627 CA368415057 |
189 | N>D | No |
ClinGen TOPMed |
|
|
CA4358425 rs752523906 |
189 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA368415060 rs1269819918 |
189 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764088596 CA4358427 COSM1550768 |
192 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4358426 rs148118941 RCV000906585 |
192 | S>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1301412421 CA368415087 |
193 | A>V | No |
ClinGen gnomAD |
|
|
CA4358429 rs111388804 |
194 | H>R | No |
ClinGen ExAC |
|
|
CA4358430 rs780141188 |
195 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415096 rs1370330709 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4358434 rs748483028 |
199 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273647531 CA368415130 |
200 | S>G | No |
ClinGen gnomAD |
|
|
CA368415137 rs1459083563 |
201 | T>P | No |
ClinGen gnomAD |
|
|
rs368430885 CA163716683 |
203 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163716684 rs866528902 |
204 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4358437 rs141880092 |
204 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163716685 rs866528902 |
204 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368415181 rs1167640790 |
208 | R>S | No |
ClinGen gnomAD |
|
|
CA4358438 rs770355969 |
210 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs71563577 CA163716686 |
210 | T>P | No |
ClinGen Ensembl |
|
|
rs770355969 CA368415192 |
210 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163716687 rs923934436 |
211 | E>G | No |
ClinGen Ensembl |
|
|
CA368415205 rs1393897464 |
213 | E>K | No |
ClinGen gnomAD |
|
|
rs759172588 CA4358440 |
214 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1303685703 CA368415214 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749776351 CA4358454 |
216 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM2152125 rs778350750 CA4358456 |
218 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1257240079 CA368415259 |
218 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368415274 rs1584142706 |
220 | K>R | No |
ClinGen Ensembl |
|
|
rs745349857 CA4358457 |
221 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163717209 rs745349857 |
221 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358459 rs775301358 |
222 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771896157 CA4358458 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368415293 rs1412720485 |
223 | D>E | No |
ClinGen gnomAD |
|
|
rs746619929 CA4358460 |
224 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368415304 rs1397757455 |
225 | F>Y | No |
ClinGen gnomAD |
|
|
rs774345118 CA4358465 |
227 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774345118 CA368415315 |
227 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415322 rs1584142734 |
228 | S>A | No |
ClinGen Ensembl |
|
|
CA4358466 rs759635636 |
228 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4358467 rs767545655 |
229 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA368415340 rs1263094417 |
231 | L>P | No |
ClinGen TOPMed |
|
|
rs1255809930 CA368415337 |
231 | L>V | No |
ClinGen gnomAD |
|
|
CA368415344 rs1483768781 |
232 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM453641 CA4358469 rs756274665 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764502998 CA4358470 |
234 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368415375 rs1487572718 |
237 | Y>H | No |
ClinGen TOPMed |
|
|
CA4358473 rs534108400 |
238 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA368415391 rs1255051005 |
239 | K>R | No |
ClinGen TOPMed |
|
|
CA368415395 rs1173215674 |
240 | I>V | No |
ClinGen gnomAD |
|
|
CA4358474 rs746307024 |
241 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA163717210 rs939933213 |
241 | K>R | No |
ClinGen Ensembl |
|
|
rs1467345787 CA368415411 |
242 | K>R | No |
ClinGen gnomAD |
|
|
rs201822467 CA4358475 |
243 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296414892 CA368415415 |
243 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368415452 rs139292298 |
249 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4358478 rs139292298 |
249 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1584142801 CA368415465 |
251 | T>P | No |
ClinGen Ensembl |
|
|
rs142709332 CA4358480 |
252 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368415498 rs1199820376 |
255 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs563276077 CA4358484 |
257 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4358483 rs762813819 COSM3394969 |
257 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4358485 rs775537036 |
258 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372557301 CA4358488 |
260 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375167666 CA4358489 |
260 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765474661 CA4358490 |
261 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358492 rs758917249 |
262 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs200029155 CA4358491 |
262 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415552 rs1584142854 |
266 | T>P | No |
ClinGen Ensembl |
|
|
rs184760045 CA4358494 |
268 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4358496 rs754727360 |
269 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1467221748 CA368415588 |
271 | A>V | No |
ClinGen gnomAD |
|
|
CA4358498 rs747714851 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4358500 rs528316979 |
274 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172767592 COSM602957 CA368415606 |
275 | Q>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs749285582 CA4358501 |
275 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902138619 CA163717213 |
276 | A>T | No |
ClinGen TOPMed |
|
|
rs1031855244 CA163717215 |
278 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201579756 CA4358503 |
279 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358505 rs200042990 |
280 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4358506 rs200042990 |
280 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4358507 rs761870954 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368415659 rs1397408149 |
283 | E>D | No |
ClinGen TOPMed |
|
|
rs765646407 CA4358508 |
283 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358509 rs750804125 |
284 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1330832284 CA368415664 |
284 | W>L | No |
ClinGen TOPMed |
|
|
rs1228247683 CA368415669 |
285 | G>S | No |
ClinGen gnomAD |
|
|
rs763620013 CA4358510 |
286 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766959687 CA4358511 |
287 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA368415690 rs752065727 |
288 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1262691468 CA368415691 |
288 | P>H | No |
ClinGen gnomAD |
|
|
CA4358512 rs752065727 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368415699 rs369073829 |
289 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754549831 CA4358513 |
289 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752408311 CA368415710 |
291 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415728 rs1415396475 |
294 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs373358048 CA4358518 |
295 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4358537 COSM1453125 rs757073029 |
298 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1458677333 CA368415805 |
304 | V>L | No |
ClinGen gnomAD |
|
|
CA368415818 rs1191393561 |
306 | D>N | No |
ClinGen gnomAD |
|
|
CA4358541 rs777992828 |
307 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368415842 rs1562851443 |
309 | W>* | No |
ClinGen Ensembl |
|
|
CA163717473 rs191705587 |
309 | W>C | No |
ClinGen 1000Genomes |
|
|
CA163717474 rs953094270 |
312 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368415886 rs1427689969 |
315 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377548219 COSM3412536 CA4358543 |
317 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370691047 CA4358546 |
319 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3942412 rs182840974 CA4358545 |
319 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA163717476 rs1053320442 |
320 | D>E | No |
ClinGen TOPMed |
|
|
CA368415913 rs141261101 |
320 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4358547 rs141261101 |
320 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 322 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374620383 CA4358548 |
322 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375252857 CA4358550 COSM1453126 |
329 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 330 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4358551 rs760121807 |
330 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763550685 CA4358552 |
331 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753490696 CA4358553 |
333 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA368416006 rs1458714911 |
333 | G>S | No |
ClinGen gnomAD |
|
|
CA368416020 rs1231583913 |
335 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164688836 CA368416017 |
335 | G>R | No |
ClinGen gnomAD |
|
|
CA163717479 rs113547096 |
336 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA163717478 COSM110303 rs141241960 |
336 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4358554 rs377484494 |
338 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1584144114 CA368416041 |
339 | A>T | No |
ClinGen Ensembl |
|
|
CA368416049 rs1222283377 |
340 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 341 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248872905 CA368416064 |
342 | H>Y | No |
ClinGen gnomAD |
|
|
CA368416074 rs1477019727 |
343 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424885365 CA368416087 |
345 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA163717480 rs1017261946 |
346 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA368416094 rs1017261946 |
346 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 346 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368416098 rs1387610917 |
347 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4358557 rs758401502 |
347 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746925329 CA4358559 |
348 | G>C | No |
ClinGen ExAC |
|
|
rs145121618 CA4358561 |
349 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1030261187 CA163717481 |
350 | L>V | No |
ClinGen TOPMed |
|
|
rs955510968 CA163717482 |
352 | L>F | No |
ClinGen Ensembl |
|
|
CA368416130 rs1278774512 |
353 | G>E | No |
ClinGen gnomAD |
|
|
rs1216882493 CA368416175 |
357 | D>E | No |
ClinGen gnomAD |
|
|
rs758149282 CA4358581 |
358 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368416182 rs147732348 |
359 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4358583 rs147732348 |
359 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565902154 CA4358586 |
360 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565902154 CA4358585 |
360 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1424486851 CA368416187 |
360 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1424486851 CA368416189 |
360 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA368416195 rs1378541425 |
361 | G>D | No |
ClinGen gnomAD |
|
|
rs779029294 CA368416197 |
362 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483455178 CA368416198 |
362 | R>K | No |
ClinGen TOPMed |
|
|
rs779029294 CA4358588 |
362 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA368416207 rs1255135259 |
363 | F>S | No |
ClinGen TOPMed |
|
|
CA368416232 rs1410805025 |
367 | Q>E | No |
ClinGen gnomAD |
|
|
CA368416253 rs1464322903 |
370 | V>F | No |
ClinGen gnomAD |
|
|
CA368416255 rs1464322903 |
370 | V>I | No |
ClinGen gnomAD |
|
|
CA368416261 rs1402756746 |
371 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA163717616 rs879238457 |
372 | E>D | No |
ClinGen Ensembl |
|
|
rs1296433461 CA368416274 |
373 | L>F | No |
ClinGen TOPMed |
|
|
CA4358591 rs554934642 |
374 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA368416281 rs1227733046 |
374 | S>N | No |
ClinGen TOPMed |
|
|
CA368416285 rs1375482025 |
375 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747569570 CA4358592 |
378 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA163717618 rs925568540 |
378 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1453129 CA4358593 rs569932192 |
381 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs936955349 CA163717619 |
381 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4358595 rs761289601 |
382 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA163717620 rs200320030 COSM1453130 |
384 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs200320030 CA368416347 |
384 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4358597 rs769298573 |
384 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769298573 CA4358596 |
384 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1093530 rs371914516 CA4358599 |
385 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751365971 CA4358600 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4358601 rs759589393 |
386 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296609942 CA368416375 |
389 | V>I | No |
ClinGen gnomAD |
|
|
rs752637896 CA4358603 |
390 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368416381 rs752637896 |
390 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163717621 rs202111578 |
390 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202111578 CA4358604 |
390 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA163717622 rs750620530 |
391 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374887886 CA4358605 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs577132829 CA4358607 |
392 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368416395 rs1446791025 |
392 | A>V | No |
ClinGen gnomAD |
|
|
CA368416397 rs1332965957 |
393 | N>D | No |
ClinGen gnomAD |
|
|
rs780347047 CA368416399 |
393 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4358608 rs780347047 |
393 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 396 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769198310 CA4358611 |
397 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4358613 rs553029244 |
399 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781680291 CA4358612 |
399 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368416445 rs1234663347 |
400 | G>D | No |
ClinGen gnomAD |
|
|
CA4358615 rs772765872 |
400 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4358616 rs375184669 |
401 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163717624 rs1016269650 |
402 | I>N | No |
ClinGen Ensembl |
|
|
rs1293969503 CA368416456 |
402 | I>V | No |
ClinGen TOPMed |
|
|
CA4358618 rs774340275 |
404 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168448722 CA368416476 |
405 | W>* | No |
ClinGen gnomAD |
|
|
CA368416481 rs1422761069 |
405 | W>C | No |
ClinGen gnomAD |
|
|
CA368416487 rs1311082140 |
406 | V>A | No |
ClinGen TOPMed |
|
|
rs1466063833 CA368416482 |
406 | V>M | No |
ClinGen gnomAD |
|
|
rs1322610823 CA368416494 |
407 | D>E | No |
ClinGen Ensembl |
|
|
rs373231542 CA4358621 |
410 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765289334 CA4358623 |
411 | D>G | No |
ClinGen ExAC |
|
|
CA368416519 rs1293701909 |
411 | D>Y | No |
ClinGen gnomAD |
|
|
rs1308263200 CA368416524 |
412 | V>M | No |
ClinGen TOPMed |
|
|
CA4358625 rs140588425 |
413 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1340512901 CA368416541 |
414 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766600008 CA4358626 |
414 | G>R | Variant assessed as Somatic; 0.0001933 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368226346 CA368416554 |
417 | S>A | No |
ClinGen TOPMed |
|
|
CA368416572 rs1221141415 |
419 | W>* | No |
ClinGen gnomAD |
|
|
rs755366649 CA4358628 |
419 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4358629 rs781478211 |
420 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs375008882 COSM1728033 CA4358631 |
421 | V>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1162538097 CA368416590 |
422 | E>G | No |
ClinGen TOPMed |
|
|
rs1367795676 CA368416587 |
422 | E>Q | No |
ClinGen TOPMed |
|
|
rs777189293 CA4358632 |
423 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368416596 rs1469442741 |
423 | T>S | No |
ClinGen gnomAD |
|
|
rs1584144971 CA368416606 |
424 | C>W | No |
ClinGen Ensembl |
|
|
rs1188175844 CA368416602 |
424 | C>Y | No |
ClinGen gnomAD |
|
|
rs1411020147 CA368416607 |
425 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 426 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368416624 rs1181746125 |
427 | R>C | No |
ClinGen TOPMed |
|
|
CA4358634 rs369863365 COSM2866369 |
427 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA368416634 rs1417472725 |
429 | L>I | No |
ClinGen gnomAD |
No associated diseases with P47972
1 regional properties for P47972
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Pentaxin, conserved site | 311 - 318 | IPR030476 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| associative learning | Learning by associating a stimulus (the cause) with a particular outcome (the effect). |
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| regulation of postsynaptic neurotransmitter receptor activity | Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95502 | NPTXR | Neuronal pentraxin receptor | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLALLAASVA | LAVAAGAQDS | PAPGSRFVCT | ALPPEAVHAG | CPLPAMPMQG | GAQSPEEELR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAVLQLRETV | VQQKETLGAQ | REAIRELTGK | LARCEGLAGG | KARGAGATGK | DTMGDLPRDP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GHVVEQLSRS | LQTLKDRLES | LEHQLRANVS | NAGLPGDFRE | VLQQRLGELE | RQLLRKVAEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDEKSLLHNE | TSAHRQKTES | TLNALLQRVT | ELERGNSAFK | SPDAFKVSLP | LRTNYLYGKI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KKTLPELYAF | TICLWLRSSA | SPGIGTPFSY | AVPGQANEIV | LIEWGNNPIE | LLINDKVAQL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLFVSDGKWH | HICVTWTTRD | GMWEAFQDGE | KLGTGENLAP | WHPIKPGGVL | ILGQEQDTVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRFDATQAFV | GELSQFNIWD | RVLRAQEIVN | IANCSTNMPG | NIIPWVDNNV | DVFGGASKWP |
| 430 | |||||
| VETCEERLLD | L |