Q92802
PR
Gene name |
N4BP2L2 (CG005, PFAAP5) |
Protein name |
NEDD4-binding protein 2-like 2 |
Names |
Phosphonoformate immuno-associated protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10443 |
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 Q92802
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92802-F1 | Predicted | AlphaFoldDB |
490 variants for Q92802
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA247972175 rs906104165 |
6 | I>T | No |
ClinGen TOPMed |
|
|
CA387827805 rs1440492132 |
7 | E>G | No |
ClinGen gnomAD |
|
|
CA387827800 rs1444776810 |
8 | G>R | No |
ClinGen TOPMed |
|
|
CA6942598 rs763948638 |
12 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6942597 rs758217658 |
13 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387827750 rs1384789981 |
15 | E>K | No |
ClinGen gnomAD |
|
|
rs1157351394 CA387827747 |
15 | E>V | No |
ClinGen gnomAD |
|
|
CA6942596 rs752437375 |
16 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764987466 CA6942595 |
17 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6942594 rs201054521 |
18 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA247972174 rs201054521 |
18 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6942592 rs765824430 |
20 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs570313447 CA6942591 |
22 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA387827702 rs1263581305 |
23 | C>S | No |
ClinGen TOPMed |
|
|
rs150742044 CA6942589 |
25 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387827669 rs1594132041 |
27 | K>R | No |
ClinGen Ensembl |
|
|
rs748574056 CA6942588 |
29 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6942587 rs145768496 |
30 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768988029 CA6942586 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6942585 rs187538494 |
32 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233819717 CA387827641 |
32 | S>T | No |
ClinGen gnomAD |
|
|
CA6942581 rs780263979 |
33 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6942580 rs374326055 |
34 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942579 rs745904170 |
39 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942578 rs777707118 |
40 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs909747247 CA247972170 |
44 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6942577 rs758305879 |
45 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6942576 rs752573978 |
49 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6942575 rs778561309 |
49 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA387827516 rs369890765 |
49 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942573 rs753440124 |
50 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1037350068 CA247972167 |
50 | T>S | No |
ClinGen Ensembl |
|
|
CA6942572 rs766019201 |
53 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs760284753 CA6942571 |
54 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1677598 rs760284753 CA387827483 |
54 | W>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6942570 rs749931521 |
56 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1403237527 CA387827461 |
58 | T>N | No |
ClinGen TOPMed |
|
|
CA387827450 rs768180217 |
60 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566200390 CA387827448 |
60 | I>T | No |
ClinGen Ensembl |
|
|
rs768180217 CA6942567 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247972164 rs771269743 |
61 | D>N | No |
ClinGen TOPMed |
|
|
CA387827444 rs771269743 |
61 | D>Y | No |
ClinGen TOPMed |
|
|
CA6942562 rs774834181 |
64 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762407043 CA6942563 |
64 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417147693 CA387827417 |
65 | H>R | No |
ClinGen gnomAD |
|
|
CA387827398 rs1356736561 |
67 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942561 rs768914850 |
68 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763310254 CA6942560 |
70 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775601620 CA6942559 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA247972163 rs983705979 |
74 | K>R | No |
ClinGen Ensembl |
|
|
CA6942558 rs147132626 |
76 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781215345 CA6942556 |
77 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942557 rs745993264 |
77 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs111244621 CA6942555 |
79 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA247972162 rs761044155 |
81 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6942554 rs748052412 |
81 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1566200100 CA387827292 |
82 | L>F | No |
ClinGen Ensembl |
|
|
CA6942553 rs778847733 |
82 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA247972161 rs980564944 |
83 | H>N | No |
ClinGen gnomAD |
|
|
rs754765384 CA6942552 |
84 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387827269 rs1205462142 |
85 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6942551 rs753621143 |
85 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA247972160 rs966076621 |
86 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148366301 CA6942550 |
87 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387827230 rs755799100 |
88 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755799100 CA6942549 |
88 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942548 rs750023236 |
89 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942547 rs767120773 |
89 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299439423 CA387827216 |
90 | R>G | No |
ClinGen gnomAD |
|
|
rs752012184 CA6942545 |
91 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764620824 CA6942544 |
92 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763244716 CA6942543 |
92 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359841922 CA387827184 |
93 | V>I | No |
ClinGen TOPMed |
|
|
CA387827174 rs1566199833 |
94 | I>L | No |
ClinGen Ensembl |
|
|
CA6942542 rs530523533 |
94 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs978896263 CA247972158 |
98 | D>A | No |
ClinGen TOPMed |
|
|
rs759748083 CA6942541 COSM1677597 CA6942540 |
99 | S>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 100 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771005736 CA6942538 |
103 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs771005736 CA387827076 |
103 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1231340300 CA387827073 |
103 | Q>P | No |
ClinGen gnomAD |
|
|
rs1231340300 CA387827071 |
103 | Q>R | No |
ClinGen gnomAD |
|
|
CA387827046 rs1217865343 |
105 | A>G | No |
ClinGen TOPMed |
|
|
rs377160774 CA247972156 |
106 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA387827036 rs747075017 |
106 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6942537 rs747075017 |
106 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030179933 CA247972155 |
107 | P>S | No |
ClinGen gnomAD |
|
|
rs774181600 CA387827023 |
108 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6942536 rs774181600 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768616208 CA6942535 |
111 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6942533 rs149614093 |
112 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387826972 rs1223797884 |
113 | D>G | No |
ClinGen gnomAD |
|
|
rs1003990722 CA247972153 |
114 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6942530 rs780923277 |
114 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942529 rs756749430 |
115 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942528 rs116431269 |
117 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387826928 rs1349161162 |
117 | Y>H | No |
ClinGen gnomAD |
|
|
rs764553812 CA6942527 |
119 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1159765393 CA387826901 |
119 | T>R | No |
ClinGen gnomAD |
|
|
rs202063370 CA6942526 |
120 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387826897 rs202063370 |
120 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1048294006 CA247972152 |
121 | K>N | No |
ClinGen TOPMed |
|
|
rs753124268 CA6942525 |
122 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942524 rs765602061 |
123 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759830694 CA6942523 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438171751 CA387826836 |
125 | G>R | No |
ClinGen TOPMed |
|
|
CA387826827 rs1252756225 |
126 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776873668 CA6942522 |
126 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387826826 rs1252756225 |
126 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6942520 rs760717094 |
130 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs371937416 CA6942519 |
131 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 132 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942518 rs200024982 |
133 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202129118 CA6942515 |
136 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs202129118 CA6942516 |
136 | R>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6942514 rs749237490 |
136 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387826715 rs749237490 |
136 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942513 rs775508139 |
137 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs769714752 CA6942512 |
138 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6942511 rs745617595 |
139 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6942510 rs781013144 |
140 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746537786 CA6942508 |
141 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756907960 CA6942509 |
141 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266613307 CA387826641 |
143 | A>V | No |
ClinGen TOPMed |
|
|
CA387826630 rs1435420137 |
144 | H>R | No |
ClinGen gnomAD |
|
|
CA6942505 rs539698555 |
146 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201040288 CA6942504 |
146 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6942503 rs375163250 |
149 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387826574 rs1435089810 |
150 | N>K | No |
ClinGen gnomAD |
|
|
rs1186421339 CA387826566 |
151 | D>G | No |
ClinGen gnomAD |
|
|
rs867860156 CA247972150 |
152 | R>I | No |
ClinGen Ensembl |
|
|
CA6942502 rs754183970 |
154 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1566198790 CA387826514 |
155 | Q>H | No |
ClinGen Ensembl |
|
|
rs1440511839 CA387826521 |
155 | Q>P | No |
ClinGen TOPMed |
|
|
CA387826485 rs1180771472 |
158 | K>* | No |
ClinGen TOPMed |
|
|
CA387826481 rs1347993594 |
158 | K>I | No |
ClinGen gnomAD |
|
|
rs1279107438 CA387826470 |
159 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA247972149 rs934799749 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773226202 CA6942498 |
162 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs926031465 CA247972148 |
163 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6942497 rs371866241 |
168 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277412592 CA387826335 |
170 | N>K | No |
ClinGen TOPMed |
|
|
CA387826337 rs1463766208 |
170 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA247972147 rs568137596 |
171 | E>* | No |
ClinGen 1000Genomes |
|
|
CA387826326 rs1170271678 |
171 | E>D | No |
ClinGen gnomAD |
|
|
CA6942495 rs775596036 |
171 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247972146 rs372365057 |
173 | F>C | No |
ClinGen ESP TOPMed |
|
|
rs769802027 CA6942494 |
174 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759448412 CA6942493 |
176 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776535607 CA6942492 |
177 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1254926108 CA387826250 |
178 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6942491 rs770554525 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA387826202 rs1272576207 |
182 | L>F | No |
ClinGen TOPMed |
|
|
rs1566198428 CA387826190 |
183 | E>G | No |
ClinGen Ensembl |
|
|
CA6942489 rs746659202 |
187 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200688219 CA387826119 |
188 | G>V | No |
ClinGen TOPMed |
|
|
CA387826112 rs1217725963 |
189 | F>S | No |
ClinGen gnomAD |
|
|
rs769625119 CA6942488 |
190 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6942487 rs771646080 |
192 | S>N | No |
ClinGen ExAC |
|
|
CA6942485 rs201885726 |
193 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6942486 rs747608579 |
193 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942484 rs755450837 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA387826031 rs1415727600 |
195 | E>Q | No |
ClinGen TOPMed |
|
|
rs754271799 CA6942483 |
196 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387825985 rs1164141072 |
198 | P>L | No |
ClinGen TOPMed |
|
|
CA6942482 rs756378236 |
199 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942481 rs756378236 |
199 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942480 rs750660060 |
200 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326427775 CA387825957 |
201 | E>K | No |
ClinGen TOPMed |
|
|
rs767592015 CA6942479 |
203 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762002475 CA6942478 |
208 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6942477 rs144941975 |
209 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6942476 rs552156102 |
210 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 212 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373675561 CA6942475 |
212 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942474 rs140935647 |
213 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369512590 CA6942473 |
214 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760348775 CA6942472 |
215 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771690506 CA6942470 |
217 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387825756 rs1274865675 |
219 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA247972141 rs1026740789 |
220 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA247972140 rs1030542488 |
222 | K>Q | No |
ClinGen gnomAD |
|
|
rs778394958 CA6942468 |
224 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387825684 rs1336455164 |
225 | S>G | No |
ClinGen gnomAD |
|
|
rs769212555 CA6942467 |
225 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749812344 CA6942466 |
226 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201863954 CA6942465 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461249649 CA387825632 |
229 | M>I | No |
ClinGen gnomAD |
|
|
rs756530815 CA6942464 |
229 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6942462 rs781522443 |
230 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750701452 CA6942463 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454853676 CA387825599 |
233 | C>G | No |
ClinGen gnomAD |
|
|
rs751755695 CA6942460 |
235 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6942461 rs757518295 |
235 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942458 rs200502235 |
238 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6942459 rs764254454 |
238 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753846406 CA247972138 |
239 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247972137 rs1053159313 |
242 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766180066 CA6942456 |
242 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1351457973 CA387825477 |
243 | P>S | No |
ClinGen gnomAD |
|
|
rs1285465134 CA387825453 |
244 | D>E | No |
ClinGen gnomAD |
|
|
CA387825468 rs1344429162 |
244 | D>N | No |
ClinGen gnomAD |
|
|
rs760568333 CA6942455 |
245 | K>R | No |
ClinGen ExAC |
|
|
rs772829111 CA6942454 |
247 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772829111 CA6942453 |
247 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942451 rs773938969 |
248 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329741071 CA387825389 |
250 | G>* | No |
ClinGen gnomAD |
|
|
rs768161415 CA6942449 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA387825386 rs768161415 |
250 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768161415 CA387825384 |
250 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs748704439 CA6942448 |
251 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748704439 CA387825376 |
251 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA247972134 rs964552760 |
252 | V>L | No |
ClinGen Ensembl |
|
|
rs770174317 CA6942446 |
253 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6942445 rs746279405 |
254 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387825351 rs746279405 |
254 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781405050 CA6942444 |
255 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387825318 rs1244806566 |
257 | C>Y | No |
ClinGen gnomAD |
|
|
rs190904262 CA6942442 |
258 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6942441 rs778073508 |
259 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6942440 rs199934394 |
259 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs541610724 CA6942439 |
260 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 261 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756001580 CA6942437 |
262 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201569608 CA6942438 |
262 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767316788 CA6942435 |
265 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774026482 CA6942432 |
266 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942431 rs35935628 |
268 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762570814 CA6942430 |
269 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6942428 rs770395350 |
269 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770395350 CA6942429 |
269 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746347657 CA6942427 |
271 | V>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_034765 CA6942425 rs34062461 |
272 | Y>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6942424 rs747331226 |
273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6942423 rs372976181 |
275 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148872254 CA6942421 |
276 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758517880 CA6942422 |
276 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486675244 CA387825086 |
278 | Y>* | No |
ClinGen gnomAD |
|
|
rs1191452736 CA387825089 |
278 | Y>C | No |
ClinGen gnomAD |
|
|
rs1258374458 CA387825081 |
279 | G>R | No |
ClinGen gnomAD |
|
|
CA387825073 rs1440973436 |
280 | P>T | No |
ClinGen gnomAD |
|
|
rs1209952046 CA387825056 |
281 | P>L | No |
ClinGen TOPMed |
|
|
CA6942418 rs750335162 |
283 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942417 rs576484917 |
284 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6942416 rs576484917 |
284 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387824965 rs1356794380 |
290 | N>K | No |
ClinGen gnomAD |
|
|
rs1460016233 CA387824969 |
290 | N>S | No |
ClinGen gnomAD |
|
|
rs147831060 CA6942414 |
291 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764666160 CA6942411 |
294 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs752309937 CA6942412 |
294 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1003497522 CA247972133 |
295 | S>N | No |
ClinGen Ensembl |
|
|
CA6942410 rs759018805 |
298 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387824853 rs1418658228 |
302 | S>A | No |
ClinGen gnomAD |
|
|
CA6942408 rs771544594 |
303 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387824846 rs771544594 |
303 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433226488 CA387824841 |
303 | N>S | No |
ClinGen TOPMed |
|
|
rs761162385 CA6942407 |
304 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570226409 CA247972132 CA247972131 |
305 | F>L | No |
ClinGen Ensembl |
|
|
CA387824817 rs1165162406 |
305 | F>S | No |
ClinGen gnomAD |
|
|
CA387824787 rs1361593217 |
309 | D>G | No |
ClinGen TOPMed |
|
|
rs773708682 CA6942406 |
311 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1205531325 CA387824768 |
312 | Q>* | No |
ClinGen gnomAD |
|
|
rs1457575517 CA387824760 |
313 | I>L | No |
ClinGen gnomAD |
|
|
CA387824759 rs1384357939 |
313 | I>T | No |
ClinGen TOPMed |
|
|
CA387824751 rs1256616485 |
314 | Q>P | No |
ClinGen gnomAD |
|
|
CA6942402 rs144435265 |
318 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942400 rs374797283 |
319 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942399 rs781153522 |
322 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs113871346 CA387824686 |
323 | H>L | No |
ClinGen gnomAD |
|
|
CA387824684 rs1399789715 COSM4152751 |
323 | H>Q | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs113871346 CA247972130 |
323 | H>R | No |
ClinGen gnomAD |
|
|
rs751418395 CA6942397 |
326 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA387824653 rs1369102008 |
328 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462821784 CA387824643 |
329 | M>L | No |
ClinGen gnomAD |
|
|
rs1286404869 CA387824618 |
332 | D>G | No |
ClinGen TOPMed |
|
|
CA6942395 rs777527347 |
333 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758153778 CA6942394 |
336 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs752295501 CA6942393 |
337 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA387824572 rs1179471756 |
338 | T>I | No |
ClinGen gnomAD |
|
|
CA387824565 rs1594125506 |
339 | D>E | No |
ClinGen Ensembl |
|
|
CA6942392 rs371270849 |
339 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019497435 CA247972129 |
340 | C>Y | No |
ClinGen TOPMed |
|
|
rs140364562 CA247972128 |
341 | S>G | No |
ClinGen ESP |
|
|
CA387824549 rs1566196208 |
342 | E>Q | No |
ClinGen Ensembl |
|
|
CA6942390 rs758988933 |
344 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200712374 CA6942389 |
344 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942388 rs767059832 |
345 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200632002 CA6942386 |
348 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA247972127 rs200632002 |
348 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772332563 CA6942385 |
349 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368899797 CA387824493 |
350 | S>C | No |
ClinGen TOPMed |
|
|
rs1440374275 CA387824481 |
352 | N>S | No |
ClinGen TOPMed |
|
|
CA387824474 rs1310271123 |
353 | G>D | No |
ClinGen TOPMed |
|
|
rs774462147 CA387824451 |
356 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942383 rs774462147 |
356 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387824453 rs1337307711 |
356 | M>V | No |
ClinGen TOPMed |
|
|
CA247972126 rs1054532679 |
357 | Q>P | No |
ClinGen TOPMed |
|
|
CA387824431 rs1566196006 |
359 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199871544 CA6942382 |
359 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780099647 CA387824421 |
360 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434279393 CA387824423 |
360 | Y>F | No |
ClinGen gnomAD |
|
|
rs770909535 CA6942379 CA387824420 |
361 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs777699945 CA6942377 |
362 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1336714062 CA387824404 |
363 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs187986919 CA6942376 |
364 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3813731 CA247972125 rs201113250 |
367 | E>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1282143263 CA387824372 |
368 | V>I | No |
ClinGen gnomAD |
|
|
CA387824364 rs1434088425 |
369 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387824351 rs1180154984 |
371 | R>G | No |
ClinGen TOPMed |
|
|
CA387824348 rs1267159521 |
371 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1189966841 CA387824340 |
372 | C>S | No |
ClinGen gnomAD |
|
|
CA6942373 rs754675835 |
372 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1392303476 CA387824330 |
373 | W>* | No |
ClinGen TOPMed |
|
|
CA387824328 rs1392303476 |
373 | W>C | No |
ClinGen TOPMed |
|
|
CA387824326 rs1243202202 |
374 | K>E | No |
ClinGen gnomAD |
|
|
CA6942372 rs201024198 |
376 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA247972124 rs548879439 |
376 | H>R | No |
ClinGen gnomAD |
|
|
CA6942371 rs766001048 |
378 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398955359 CA387824284 |
379 | D>A | No |
ClinGen TOPMed |
|
|
rs1298953810 CA387824289 |
379 | D>N | No |
ClinGen TOPMed |
|
|
CA6942370 rs755621573 |
381 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330812724 CA387824269 |
381 | H>P | No |
ClinGen gnomAD |
|
|
rs1300404701 CA387824268 |
381 | H>Q | No |
ClinGen gnomAD |
|
|
rs751001654 CA6942369 |
382 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA387824256 rs1566195574 |
383 | G>E | No |
ClinGen Ensembl |
|
|
rs1298714010 CA387824248 |
384 | T>I | No |
ClinGen gnomAD |
|
|
CA6942367 rs762136552 |
392 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1594124389 CA387824178 |
394 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 395 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387824148 rs1443989716 |
398 | N>H | No |
ClinGen gnomAD |
|
|
CA6942366 rs774743814 |
399 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174483220 CA387824120 |
401 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6942364 rs370452950 |
401 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387824112 rs1594124268 |
402 | K>N | No |
ClinGen Ensembl |
|
|
CA387824105 rs1430651153 |
403 | L>F | No |
ClinGen gnomAD |
|
|
CA387824094 rs1425033721 |
405 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536049689 CA6942362 |
406 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6942363 rs775628885 |
406 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773044267 CA6942360 |
407 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs772022473 CA387824074 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772022473 CA6942359 |
409 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387824053 rs1594124030 |
412 | G>V | No |
ClinGen Ensembl |
|
|
CA247972122 rs986823911 |
413 | S>A | No |
ClinGen Ensembl |
|
|
rs1309012293 CA387824019 |
418 | L>* | No |
ClinGen gnomAD |
|
|
CA387824017 rs1309012293 |
418 | L>W | No |
ClinGen gnomAD |
|
|
rs200661050 CA6942356 |
420 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942355 rs748956526 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387823288 rs1378127371 |
421 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776768760 CA6942340 |
423 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748131013 CA6942338 |
424 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs771962748 CA6942339 |
424 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 425 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774091256 CA6942337 |
427 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs552581381 CA6942336 |
428 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749046525 CA6942335 |
429 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769543216 CA6942333 |
430 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262134382 CA387823205 |
431 | V>G | No |
ClinGen TOPMed |
|
|
CA387823208 rs1238407571 |
431 | V>M | No |
ClinGen gnomAD |
|
|
rs1594080916 CA387823193 |
432 | F>L | No |
ClinGen Ensembl |
|
|
CA6942332 rs745433183 |
434 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1000357987 CA247971189 |
434 | T>I | No |
ClinGen gnomAD |
|
|
CA6942331 rs147169180 |
435 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756659840 CA6942330 |
437 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942327 rs778212954 |
440 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752107786 CA6942328 |
440 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758785301 CA6942326 |
442 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1251285938 CA387823103 |
443 | G>E | No |
ClinGen TOPMed |
|
|
CA697415443 rs1432689540 |
444 | Y>* | No |
ClinGen TOPMed |
|
|
rs1182719228 CA387823087 |
445 | R>T | No |
ClinGen TOPMed |
|
|
CA6942324 rs765481826 |
446 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6942322 rs753951333 |
449 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009885624 CA247971188 |
450 | Q>E | No |
ClinGen Ensembl |
|
|
CA6942321 rs149866043 |
452 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1161021769 CA387823032 |
453 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6942320 rs760634794 |
455 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA247971187 rs1041318862 |
456 | D>V | No |
ClinGen Ensembl |
|
|
CA387823006 rs1157645068 |
457 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 458 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437628324 CA387822991 |
459 | Q>E | No |
ClinGen gnomAD |
|
|
rs865790569 CA247971185 |
461 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 464 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387822595 rs1219733498 |
466 | I>V | No |
ClinGen gnomAD |
|
|
rs1276946311 CA387822583 |
467 | D>N | No |
ClinGen gnomAD |
|
|
rs139065349 CA6942297 |
467 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942296 rs759208247 |
470 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1378128705 CA387822535 |
470 | R>T | No |
ClinGen Ensembl |
|
|
CA387822507 rs1266056454 |
473 | V>I | No |
ClinGen TOPMed |
|
|
CA6942295 rs776366998 |
475 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6942294 rs371236293 |
476 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387822452 rs1466021087 |
477 | N>K | No |
ClinGen gnomAD |
|
|
rs1172754057 CA387822454 |
477 | N>S | No |
ClinGen gnomAD |
|
|
CA387822437 rs1422829429 |
478 | T>I | No |
ClinGen gnomAD |
|
|
CA247970589 rs545658396 |
480 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746569407 CA6942293 |
481 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1268146703 CA387822389 |
482 | A>V | No |
ClinGen TOPMed |
|
|
rs772703254 CA6942292 |
483 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1435084566 CA387822377 |
483 | W>* | No |
ClinGen TOPMed |
|
|
CA387822319 rs1594050119 |
488 | Y>H | No |
ClinGen Ensembl |
|
|
CA387822238 rs1310976290 |
492 | A>G | No |
ClinGen gnomAD |
|
|
rs759422370 CA6942272 |
493 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA387822235 rs1240654609 |
493 | I>V | No |
ClinGen gnomAD |
|
|
CA387822227 rs1296406841 |
494 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387822216 rs1438453284 |
496 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776258280 CA6942271 |
498 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs766121500 CA6942270 |
499 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs930113460 CA247970501 |
500 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs918854471 CA247970500 |
500 | E>G | No |
ClinGen TOPMed |
|
|
rs1402164950 CA387822159 |
502 | H>R | No |
ClinGen TOPMed |
|
|
rs777173491 CA6942268 |
504 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs571492584 CA247970499 |
504 | P>S | No |
ClinGen Ensembl |
|
|
CA6942266 rs566032540 |
507 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6942267 rs527529449 |
507 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs974285124 CA247970497 |
509 | K>* | No |
ClinGen TOPMed |
|
|
CA247970496 rs962379406 |
510 | F>L | No |
ClinGen TOPMed |
|
|
rs150690734 CA247970495 |
511 | D>N | No |
ClinGen ESP |
|
|
CA387821988 rs1200806308 |
516 | E>V | No |
ClinGen Ensembl |
|
|
rs375638963 CA6942240 |
519 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781612082 CA6942239 |
519 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6942238 rs771245969 |
520 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs372346368 CA6942237 |
521 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1193827163 CA387821732 |
523 | V>A | No |
ClinGen gnomAD |
|
|
rs777701445 CA6942236 |
523 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs368042125 CA6942235 |
524 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941214058 CA247970111 |
525 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs941214058 CA387821725 |
525 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1366514 CA6942234 COSM1366513 rs117678407 |
525 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA387821718 rs1483467449 |
526 | K>R | No |
ClinGen gnomAD |
|
|
rs751579434 CA247970110 |
528 | I>V | No |
ClinGen Ensembl |
|
|
rs1262208758 CA387821695 |
529 | A>V | No |
ClinGen gnomAD |
|
|
rs1201691703 CA387821693 |
530 | Q>E | No |
ClinGen gnomAD |
|
|
rs755953499 CA6942232 |
532 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6942231 rs567381297 |
534 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs761446222 CA6942229 |
537 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs11556385 CA247970108 |
538 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 538 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6942228 rs751169614 |
539 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA247970107 rs148134925 |
541 | I>V | No |
ClinGen ESP |
|
|
CA387821604 rs1378910154 |
542 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1487821100 CA387821600 |
543 | I>T | No |
ClinGen gnomAD |
|
|
rs763513322 CA6942227 |
543 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942226 rs762481056 |
544 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs111802108 CA247970106 |
547 | S>P | No |
ClinGen Ensembl |
|
|
rs770399859 CA6942224 |
551 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6942222 rs777130135 |
552 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166489370 CA387821523 |
553 | K>E | No |
ClinGen gnomAD |
|
|
rs1342802242 CA387821495 |
555 | T>A | No |
ClinGen TOPMed |
|
|
rs1242135537 CA387821488 |
555 | T>I | No |
ClinGen gnomAD |
|
|
rs747208402 CA6942220 |
557 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA247970105 rs1018793414 |
559 | P>S | No |
ClinGen TOPMed |
|
|
CA387821428 rs1479708564 |
561 | P>L | No |
ClinGen gnomAD |
|
|
CA6942218 rs772067062 |
561 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387821361 rs1321413277 |
567 | W>* | No |
ClinGen gnomAD |
|
|
rs780008394 CA6942216 |
567 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756043709 CA6942215 |
569 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA387821331 rs1331284457 |
570 | S>F | No |
ClinGen gnomAD |
|
|
CA387821337 rs1378053982 |
570 | S>P | No |
ClinGen gnomAD |
|
|
COSM1289892 rs750280447 CA6942214 |
571 | L>F | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750280447 CA247970102 |
571 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6942211 rs146356759 |
573 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146356759 CA6942212 |
573 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6942213 rs780981901 |
573 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142162740 CA6942210 COSM1706647 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142162740 CA387821277 |
576 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM946907 rs752218341 CA6942208 |
576 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6942209 rs752218341 |
576 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs765909015 CA6942207 |
577 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1441339252 CA387821253 |
578 | C>* | No |
ClinGen gnomAD |
|
|
CA387821258 rs1450672001 |
578 | C>Y | No |
ClinGen TOPMed |
|
|
rs138840363 CA6942205 |
581 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766881903 CA6942204 |
581 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138840363 CA6942206 |
581 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6942203 rs761052550 |
582 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773357449 CA6942202 |
583 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA247970101 rs773357449 |
583 | H>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92802
No regional properties for Q92802
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92802 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst development | The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. |
| negative regulation of hematopoietic stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of hematopoietic stem cell proliferation | Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06623 | CNP | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Bos taurus (Bovine) | PR |
| P09543 | CNP | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Homo sapiens (Human) | PR |
| P16330 | Cnp | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Mus musculus (Mouse) | PR |
| P13233 | Cnp | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSYGEIEGKF | LGPREEVTSE | PRCKKLKSTT | ESYVFHNHSN | ADFHRIQEKT | GNDWVPVTII |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DVRGHSYLQE | NKIKTTDLHR | PLHDEMPGNR | PDVIESIDSQ | VLQEARPPLV | SADDEIYSTS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KAFIGPIYKP | PEKKKRNEGR | NEAHVLNGIN | DRGGQKEKQK | FNSEKSEIDN | ELFQFYKEIE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELEKEKDGFE | NSCKESEPSQ | EQFVPFYEGH | NNGLLKPDEE | KKDLSNKAMP | SHCDYQQNLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NEPDKYPCNG | QVIPTFCDTS | FTSFRPEWQS | VYPFIVPYGP | PLPSLNYHLN | IQRFSGPPNP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSNIFQAQDD | SQIQNGYYVN | NCHVNWNCMT | FDQNNEYTDC | SENRSSVHPS | GNGCSMQDRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VSNGFCEVRE | RCWKDHCMDK | HNGTDRFVNQ | QFQEEKLNKL | QKLLILLRGL | PGSGKTTLSR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILLGQNRDGI | VFSTDDYFHH | QDGYRYNVNQ | LGDAHDWNQN | RAKQAIDQGR | SPVIIDNTNI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QAWEMKPYVE | VAIGKGYRVE | FHEPETWWKF | DPEELEKRNK | HGVSRKKIAQ | MLDRYEYQMS |
| 550 | 560 | 570 | 580 | ||
| ISIVMNSVEP | SHKSTQRPPP | PQGRQRWGGS | LGSHNRVCVT | NNH |