Q9UBF8
PR
Gene name |
PI4KB |
Protein name |
Phosphatidylinositol 4-kinase beta |
Names |
PI4K-beta, PI4Kbeta, PtdIns 4-kinase beta, NPIK, PI4K92, PI4KIII |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5298 |
EC number |
2.7.1.67: Phosphotransferases with an alcohol group as acceptor |
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
689-711 (Activation loop from InterPro)
Target domain |
529-816 (Catalytic domain of Type III Phosphoinositide 4-kinase beta) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
18 structures for Q9UBF8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N73 | NMR | - | B | 1-68 | PDB |
| 4D0L | X-ray | 294 A | A/C/E | 121-799 | PDB |
| 4D0M | X-ray | 600 A | A/C/G/I/M/O/Q/S/W/Y/c/g | 121-799 | PDB |
| 4WAE | X-ray | 332 A | A | 128-799 | PDB |
| 4WAG | X-ray | 341 A | A | 128-799 | PDB |
| 5C46 | X-ray | 265 A | E | 121-799 | PDB |
| 5C4G | X-ray | 320 A | E | 121-799 | PDB |
| 5EUQ | X-ray | 320 A | PDB | ||
| 5FBL | X-ray | 337 A | A | 128-799 | PDB |
| 5FBQ | X-ray | 379 A | A | 128-799 | PDB |
| 5FBR | X-ray | 328 A | A | 128-799 | PDB |
| 5FBV | X-ray | 329 A | A | 128-799 | PDB |
| 5FBW | X-ray | 349 A | A | 128-799 | PDB |
| 5LX2 | X-ray | 258 A | B | 292-297 | PDB |
| 5NAS | X-ray | 208 A | C/D | 289-297 | PDB |
| 6GL3 | X-ray | 277 A | PDB | ||
| 8Q6G | X-ray | 154 A | A | 291-816 | PDB |
| AF-Q9UBF8-F1 | Predicted | AlphaFoldDB |
432 variants for Q9UBF8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1089463 rs765405242 |
2 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341988189 rs1336811424 |
4 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341988187 rs888671749 |
4 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs888671749 CA29545194 |
4 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232477879 CA341988184 |
5 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1089462 rs776717338 |
8 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089461 rs776717338 |
8 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341988156 rs1297280841 |
9 | A>V | No |
ClinGen gnomAD |
|
|
rs761238694 CA29545182 |
10 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089459 rs761238694 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764565706 CA1089460 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1089458 rs144656134 |
11 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336585603 CA341988131 |
14 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341988115 rs1392948705 |
16 | E>V | No |
ClinGen gnomAD |
|
|
CA1089456 rs759926976 |
17 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1089454 rs770637267 |
18 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428114383 CA341988104 |
18 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138899197 CA1089453 |
21 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546072252 CA1089452 |
22 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1193020301 CA341988083 |
22 | P>S | No |
ClinGen gnomAD |
|
|
rs769663466 CA1089451 |
23 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089450 rs748098911 |
25 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA341988060 rs1373443913 |
26 | G>R | No |
ClinGen TOPMed |
|
|
CA341988045 rs1301478367 |
28 | S>Y | No |
ClinGen gnomAD |
|
|
CA1089447 rs751289611 |
29 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1466593928 CA341988030 |
31 | S>N | No |
ClinGen gnomAD |
|
|
CA1089445 rs375599986 |
33 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29545110 rs143664305 |
34 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143664305 CA1089444 |
34 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768094196 CA1089440 |
36 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs753268967 CA1089441 |
36 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341987996 rs568964666 |
37 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA29545092 rs568964666 |
37 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs186207540 CA1089438 |
38 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186207540 CA1089437 |
38 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763814782 CA29545073 |
39 | E>K | No |
ClinGen Ensembl |
|
|
rs574473630 CA1089435 |
43 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1089434 rs375242469 |
44 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341987937 rs1274554646 |
47 | V>M | No |
ClinGen TOPMed |
|
|
rs1436680098 CA341987921 |
49 | Q>R | No |
ClinGen TOPMed |
|
|
rs199940125 CA29545037 |
50 | K>E | No |
ClinGen Ensembl |
|
|
CA341987909 rs1281859006 |
51 | A>P | No |
ClinGen Ensembl |
|
|
CA341987901 rs1256233305 |
52 | C>F | No |
ClinGen gnomAD |
|
|
rs1345196288 CA341987894 |
53 | Q>* | No |
ClinGen gnomAD |
|
|
CA341987892 rs1302042247 |
53 | Q>R | No |
ClinGen gnomAD |
|
|
CA1089432 rs781112664 |
54 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089431 rs781112664 |
54 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141886432 CA1089428 |
60 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1089426 rs754067942 |
62 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341987824 rs1571206995 |
63 | H>R | No |
ClinGen Ensembl |
|
|
rs867711084 CA341987807 |
66 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA29544953 rs867711084 |
66 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs570808835 CA1089424 |
67 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341987795 rs1408231309 |
68 | V>A | No |
ClinGen TOPMed |
|
|
rs752756841 CA1089423 |
68 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967152918 CA29544945 |
69 | S>C | No |
ClinGen gnomAD |
|
|
rs1325585032 CA341987791 |
69 | S>T | No |
ClinGen TOPMed |
|
|
CA341987775 rs1331819196 |
71 | R>S | No |
ClinGen TOPMed |
|
|
CA341987762 rs1256582728 |
73 | T>I | No |
ClinGen gnomAD |
|
|
CA29544936 rs151146110 |
74 | P>L | No |
ClinGen ESP |
|
|
CA1089418 rs763179539 |
76 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs766830443 CA1089419 |
76 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341987738 rs1240264890 |
78 | V>I | No |
ClinGen gnomAD |
|
|
CA1089417 rs772948943 |
79 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089415 rs28372941 |
87 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140730542 CA1089414 |
88 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341987669 rs140730542 |
88 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1089413 rs199887088 |
88 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341987653 rs1375095197 |
90 | L>P | No |
ClinGen gnomAD |
|
|
CA341987648 rs1250759118 |
91 | D>G | No |
ClinGen TOPMed |
|
|
rs1250759118 CA341987647 |
91 | D>V | No |
ClinGen TOPMed |
|
|
rs1231505306 CA341987639 |
92 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs201031914 CA29544905 |
92 | D>V | No |
ClinGen 1000Genomes |
|
|
CA1089409 rs775310113 |
93 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1028342861 CA1089410 |
93 | P>S | No |
ClinGen TOPMed |
|
|
CA341987637 rs1028342861 |
93 | P>T | No |
ClinGen TOPMed |
|
|
rs1405881539 CA341987629 |
94 | P>R | No |
ClinGen gnomAD |
|
|
CA341987618 rs1156806835 |
96 | Q>R | No |
ClinGen gnomAD |
|
|
CA341987607 rs1474382469 |
97 | I>M | No |
ClinGen TOPMed |
|
|
rs771919999 CA1089408 |
99 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745606117 CA1089407 |
101 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1164989729 CA341987568 |
103 | E>K | No |
ClinGen TOPMed |
|
|
rs1474073616 CA341987556 |
104 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1089406 rs778060789 |
104 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs558834754 CA1089405 |
105 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1256381279 CA341987552 |
105 | G>R | No |
ClinGen gnomAD |
|
|
CA341987545 rs1460989358 |
106 | A>V | No |
ClinGen TOPMed |
|
|
rs1357634358 CA341987541 |
107 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341987542 rs1357634358 |
107 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089403 rs781415493 |
109 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1295043 CA1089402 rs755592481 |
110 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1355148556 CA341987517 |
111 | G>D | No |
ClinGen gnomAD |
|
|
CA341987490 rs1343563404 |
115 | G>E | No |
ClinGen gnomAD |
|
|
CA341987465 rs900967912 |
119 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs900967912 CA29544879 |
119 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201595401 CA341987467 |
119 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750699434 CA1089398 |
120 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341987462 rs750699434 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359198357 CA341987463 |
120 | R>W | No |
ClinGen gnomAD |
|
|
COSM1320002 CA29544864 rs760195563 |
121 | Q>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1089397 rs765001640 |
121 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29544857 rs761452572 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA341987426 rs1416887924 |
126 | K>E | No |
ClinGen gnomAD |
|
|
rs763569179 CA29544822 |
135 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763569179 CA1089394 |
135 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs376447621 CA1089393 |
138 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468493229 CA341987297 |
145 | I>V | No |
ClinGen gnomAD |
|
|
rs1275605811 CA341987281 |
147 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341987247 rs1270829187 |
152 | K>R | No |
ClinGen TOPMed |
|
|
rs774003340 CA1089389 |
155 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1089387 rs748361427 |
156 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341987200 rs1327919651 |
159 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089385 rs755140943 |
160 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM2183415 rs372795296 CA1089384 |
163 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA341987175 rs1324833163 |
163 | R>W | No |
ClinGen TOPMed |
|
|
rs750868780 CA1089381 |
168 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765490691 CA1089380 |
168 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089379 rs756950342 |
169 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs375283129 CA1089377 |
170 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1089376 rs752090695 |
171 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089374 rs767548449 |
172 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759385940 CA1089373 |
173 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA341987093 rs774239767 |
175 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089372 rs774239767 |
175 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089369 rs776997625 |
180 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341987047 rs1350215747 |
182 | M>T | No |
ClinGen gnomAD |
|
|
rs747147472 CA1089368 |
184 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1089367 rs747147472 |
184 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1413526877 CA341987024 |
185 | H>L | No |
ClinGen TOPMed |
|
|
CA1089366 rs779995809 |
186 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1370199353 CA341986998 |
188 | E>D | No |
ClinGen gnomAD |
|
|
CA341986990 rs1752379 |
189 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1089364 rs746335653 |
190 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779424162 CA1089363 |
191 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA29544649 rs12042270 |
193 | A>S | No |
ClinGen Ensembl |
|
|
CA1089362 rs757645617 |
194 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089360 rs777415980 |
199 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1453212083 CA341986916 |
201 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1089359 rs755748841 |
201 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA341986905 rs1479903252 |
203 | R>C | No |
ClinGen gnomAD |
|
|
rs766903450 CA1089357 COSM1333965 |
203 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766903450 CA341986901 |
203 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29544626 rs958001241 |
204 | Q>H | No |
ClinGen gnomAD |
|
|
rs1278412664 CA341986869 |
208 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762855154 CA341986794 |
219 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089353 rs762855154 |
219 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341986776 rs1297360702 |
222 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1415124243 CA341986770 |
223 | M>V | No |
ClinGen gnomAD |
|
|
CA341986736 rs1310631280 |
227 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341986709 rs1345269629 |
231 | S>F | No |
ClinGen gnomAD |
|
|
CA1089351 rs370367124 |
232 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA29544588 rs370367124 |
232 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775690832 CA1089349 |
234 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1089348 rs772064792 |
235 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs779289312 CA1089346 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1089345 rs771365508 |
239 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA29544520 rs868031725 |
242 | S>L | No |
ClinGen Ensembl |
|
|
CA341986643 rs1486267627 |
243 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341986618 rs1262544741 |
247 | P>S | No |
ClinGen gnomAD |
|
|
rs1217912545 CA341986611 |
248 | A>P | No |
ClinGen gnomAD |
|
|
rs1287590316 CA341986596 |
250 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs749710318 CA1089344 |
251 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1362106853 CA341986538 |
258 | S>R | No |
ClinGen gnomAD |
|
|
rs755803582 CA1089342 |
259 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341986535 rs1290087530 |
259 | P>S | No |
ClinGen gnomAD |
|
|
CA341986536 rs1290087530 |
259 | P>T | No |
ClinGen gnomAD |
|
|
rs587716868 CA1089340 |
260 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341986525 rs1463406163 |
261 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1056847 CA341986514 |
262 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341986498 rs1264073322 |
265 | L>P | No |
ClinGen gnomAD |
|
|
CA1089336 rs758408953 |
266 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214245132 CA341986478 |
269 | K>E | No |
ClinGen gnomAD |
|
|
CA1089335 rs587726472 |
269 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771211131 CA341986447 |
273 | Q>L | No |
ClinGen gnomAD |
|
|
rs771211131 CA29544464 |
273 | Q>R | No |
ClinGen gnomAD |
|
|
rs761617123 CA1089333 |
274 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435098260 CA341986380 |
283 | I>R | No |
ClinGen TOPMed |
|
|
rs1297215520 CA341986368 |
285 | L>F | No |
ClinGen gnomAD |
|
|
rs1571204730 CA341986361 |
286 | S>N | No |
ClinGen Ensembl |
|
|
rs200424946 CA1089332 |
288 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77233955 CA29544449 |
291 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 293 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341986312 rs1418677939 |
294 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341986311 rs1418677939 |
294 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341986305 rs1327230346 |
294 | S>R | No |
ClinGen gnomAD |
|
|
rs1461961990 CA341986300 |
295 | N>S | No |
ClinGen TOPMed |
|
|
rs1462769194 CA341986272 |
299 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1089329 rs587765480 |
300 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1089328 rs200734438 COSM340138 |
301 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA1089327 rs749763030 |
302 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280534468 CA341985270 |
304 | E>K | No |
ClinGen gnomAD |
|
|
CA341985252 rs1212416768 |
305 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341985236 rs1364707430 |
306 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1571188113 CA341985219 |
308 | S>R | No |
ClinGen Ensembl |
|
|
rs1240377428 CA341985196 COSM895772 |
310 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs766422704 CA1089310 |
311 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341985164 rs1306907236 |
312 | I>T | No |
ClinGen TOPMed |
|
|
CA1089309 rs762969703 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409561100 CA341985149 |
313 | D>V | No |
ClinGen gnomAD |
|
|
rs773714401 CA1089308 |
314 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1089307 rs770279139 |
315 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA29541245 rs745439382 |
317 | S>N | No |
ClinGen Ensembl |
|
|
COSM1722496 CA341985060 rs1355938706 |
319 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1089280 rs745425649 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1318519438 COSM3801822 CA341984976 |
328 | F>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341984901 rs1233982385 |
333 | M>L | No |
ClinGen gnomAD |
|
|
rs1166873730 CA341984868 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs755933059 CA1089275 |
336 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA341984824 rs367965535 |
337 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA29540058 rs367965535 |
337 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341984809 rs1188541621 |
338 | R>Q | No |
ClinGen gnomAD |
|
|
rs752433181 CA1089274 |
338 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1571179742 CA341984798 |
340 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 340 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780315230 CA1089273 |
341 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1571179730 CA341984796 |
341 | T>P | No |
ClinGen Ensembl |
|
|
CA341984778 rs1571179682 |
342 | L>P | No |
ClinGen Ensembl |
|
|
rs765341223 CA1089270 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1089271 rs750543436 |
347 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761752414 CA1089269 |
348 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341984522 rs1411275969 |
358 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167441613 CA341984492 COSM528504 |
360 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1248840868 CA341984414 |
365 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397433917 CA341984404 |
366 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452015561 CA341984334 |
370 | P>S | No |
ClinGen TOPMed |
|
|
rs1170019492 CA341984304 |
372 | A>T | No |
ClinGen TOPMed |
|
|
CA341984281 rs1189975077 |
374 | F>L | No |
ClinGen gnomAD |
|
|
CA1089263 rs773782666 |
377 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1089261 rs764847655 |
378 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748704709 CA1089260 |
379 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777781696 CA1089259 |
381 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341984150 rs1571179213 |
382 | P>L | No |
ClinGen Ensembl |
|
|
rs1303407185 CA341984105 |
385 | Q>* | No |
ClinGen gnomAD |
|
|
rs200053405 CA29539916 |
387 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 395 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29538573 rs1031965556 |
401 | V>A | No |
ClinGen Ensembl |
|
|
CA341983582 rs1456044414 |
404 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748056222 CA1089238 |
410 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352819404 CA341983361 |
416 | A>V | No |
ClinGen TOPMed |
|
|
CA341983331 rs1486195779 |
417 | R>W | No |
ClinGen gnomAD |
|
|
rs777966347 CA1089231 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267222624 CA341983265 |
422 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749543339 CA1089228 |
423 | I>K | No |
ClinGen ExAC |
|
|
CA1089227 rs753277704 |
423 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1089226 rs200350201 |
424 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs999904324 CA29538509 |
424 | R>W | No |
ClinGen Ensembl |
|
|
rs1282841697 CA341983172 |
426 | T>M | No |
ClinGen gnomAD |
|
|
rs1323207915 CA341983132 |
429 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761275142 CA1089219 |
434 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776558471 CA1089218 |
434 | E>V | No |
ClinGen ExAC |
|
|
rs377553648 CA1089217 |
435 | C>* | No |
ClinGen ESP ExAC |
|
|
rs1307308311 CA341983038 |
435 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA29536964 rs890184716 |
437 | I>T | No |
ClinGen TOPMed |
|
|
CA1089216 rs746876053 |
439 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224942136 CA341981434 |
441 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1429255243 CA341981385 |
442 | R>Q | No |
ClinGen gnomAD |
|
|
CA341981351 rs1352969489 |
444 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771222979 CA1089214 |
446 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA341981153 rs1311783962 |
447 | S>G | No |
ClinGen gnomAD |
|
|
CA29536910 rs1051277142 |
449 | V>M | No |
ClinGen Ensembl |
|
|
CA341981027 rs1190472583 |
450 | P>L | No |
ClinGen gnomAD |
|
|
rs1463512199 CA341980988 |
451 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1089213 rs749445506 |
452 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778090293 CA1089212 |
455 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748171554 CA1089210 |
461 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341980635 rs1307623212 |
462 | D>G | No |
ClinGen gnomAD |
|
|
CA29536860 rs755332671 |
462 | D>N | No |
ClinGen Ensembl |
|
|
CA29536851 rs934121209 |
466 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1089208 rs755436866 |
469 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29535132 rs367782946 |
473 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA29535126 rs778524223 |
474 | V>G | No |
ClinGen Ensembl |
|
|
rs1429267959 CA341979815 |
474 | V>L | No |
ClinGen gnomAD |
|
|
rs377615591 CA29535115 |
475 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA1089191 rs769257764 |
479 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089190 rs747494440 |
482 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA341979615 rs1467493837 |
484 | Q>H | No |
ClinGen gnomAD |
|
|
COSM246576 rs1375821240 CA341979594 |
487 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1089189 rs780574306 |
490 | I>M | No |
ClinGen ExAC |
|
|
rs1332232140 CA341979542 |
490 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341979525 rs1571163850 |
491 | T>P | No |
ClinGen Ensembl |
|
|
rs758697095 CA1089188 |
499 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341979380 rs1197933832 |
499 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1197933832 CA341979383 |
499 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1253608770 CA341979339 |
501 | I>T | No |
ClinGen gnomAD |
|
|
rs1482470144 CA341979330 |
502 | A>P | No |
ClinGen gnomAD |
|
|
CA1089186 rs778599326 |
504 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753382269 CA1089184 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs587638204 CA1089183 |
507 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341979113 rs1475598433 |
508 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767412026 CA1089160 |
508 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341979109 rs1435684202 |
509 | R>C | No |
ClinGen gnomAD |
|
|
CA341979108 rs1390693887 |
509 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1318315687 CA341979077 |
511 | S>L | No |
ClinGen gnomAD |
|
|
rs1481497274 CA341979047 |
513 | Q>R | No |
ClinGen TOPMed |
|
|
rs766301277 COSM1663487 CA1089157 |
514 | L>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1557792249 CA341978996 |
516 | H>Y | No |
ClinGen Ensembl |
|
|
CA29533839 rs376699620 |
518 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341978914 rs1367360537 |
519 | T>R | No |
ClinGen gnomAD |
|
|
CA1089155 rs776726452 |
522 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764322175 CA1089154 |
523 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1208511619 CA341978702 |
526 | E>D | No |
ClinGen gnomAD |
|
|
rs775637962 CA1089152 |
534 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930682258 CA29533801 |
537 | W>* | No |
ClinGen Ensembl |
|
|
CA29533796 rs753489098 |
541 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1355780351 CA341978285 |
542 | R>Q | No |
ClinGen gnomAD |
|
|
rs1305583915 CA341978295 |
542 | R>W | No |
ClinGen TOPMed |
|
|
rs1207384521 CA341977001 |
543 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 546 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227549677 CA341976812 |
551 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs267598012 CA29533575 |
555 | N>D | No |
ClinGen gnomAD |
|
|
rs145183469 CA1089137 |
555 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1089136 rs145183469 |
555 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372597812 CA1089134 |
557 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151090491 CA1089135 |
557 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745689241 CA29533546 |
558 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA341976573 rs1246623234 |
560 | S>P | No |
ClinGen TOPMed |
|
|
CA341976248 rs1477864133 |
570 | R>Q | No |
ClinGen gnomAD |
|
|
rs1218091769 CA341976264 |
570 | R>W | No |
ClinGen TOPMed |
|
|
rs1485635449 CA341976135 |
575 | A>G | No |
ClinGen TOPMed |
|
|
rs1482144787 CA341976065 |
578 | V>M | No |
ClinGen gnomAD |
|
|
CA341976025 rs1273973139 |
580 | K>R | No |
ClinGen gnomAD |
|
|
rs587741228 CA1089128 |
582 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760216451 CA29533507 |
583 | Q>R | No |
ClinGen Ensembl |
|
|
CA341975522 rs1228462683 |
587 | E>Q | No |
ClinGen gnomAD |
|
|
CA1089112 rs766938242 |
588 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773543566 CA1089110 COSM895769 |
590 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762018174 CA1089108 |
591 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 592 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455923457 CA341975426 |
595 | I>M | No |
ClinGen gnomAD |
|
|
CA341975417 rs1411519264 |
597 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 599 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089104 rs148958963 |
601 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA29531193 rs950155929 |
604 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA29531149 rs368818592 |
609 | M>V | No |
ClinGen ESP |
|
|
rs376160455 CA29531141 |
610 | I>T | No |
ClinGen ESP |
|
|
rs1210357334 CA341975309 |
613 | V>M | No |
ClinGen gnomAD |
|
|
rs991456438 CA29531138 |
614 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341975302 rs1463373604 |
614 | V>I | No |
ClinGen gnomAD |
|
|
rs757077995 CA1089100 |
616 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1221817303 CA341975290 |
616 | A>T | No |
ClinGen gnomAD |
|
|
rs757077995 CA341975286 |
616 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753517474 CA1089099 |
619 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 624 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29531095 rs749628103 |
629 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1089097 rs749628103 |
629 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 631 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766469914 CA1089095 |
632 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310566755 CA341975151 |
636 | Q>R | No |
ClinGen TOPMed |
|
|
CA341975121 rs1222893053 |
640 | S>T | No |
ClinGen Ensembl |
|
|
CA1089090 rs777134370 |
645 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190417371 COSM895766 CA341975046 |
651 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA29531041 rs926221213 |
655 | Q>E | No |
ClinGen TOPMed |
|
|
rs1191516445 CA341974846 |
663 | V>L | No |
ClinGen gnomAD |
|
|
rs1212802910 CA341972338 |
679 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 679 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089073 rs757677169 |
682 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs765842263 CA1089074 |
682 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244333999 CA341972133 |
688 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 696 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 699 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1089070 rs587658940 |
699 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs775283031 CA1089069 |
701 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1276735332 CA341971692 |
705 | T>M | No |
ClinGen gnomAD |
|
|
CA341971655 rs1282935713 |
707 | A>P | No |
ClinGen gnomAD |
|
|
rs144699802 CA1089067 |
712 | T>A | No |
ClinGen ESP ExAC |
|
|
rs1303914392 CA341971523 |
712 | T>I | No |
ClinGen gnomAD |
|
|
CA341971528 rs1303914392 |
712 | T>K | No |
ClinGen gnomAD |
|
|
rs1470997870 CA341971507 |
713 | E>A | No |
ClinGen TOPMed |
|
|
CA29528070 rs906578656 |
716 | D>H | No |
ClinGen gnomAD |
|
|
CA29527840 rs147243395 |
717 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341971272 rs1286062069 |
719 | G>D | No |
ClinGen gnomAD |
|
|
CA1089034 rs202221345 |
720 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs963641492 CA29527833 |
720 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341971227 rs1314285138 |
723 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs926614750 CA29527828 |
725 | M>L | No |
ClinGen Ensembl |
|
|
rs753147951 CA1089031 |
727 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756687625 CA1089032 |
727 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341971057 rs1224312691 |
735 | Q>E | No |
ClinGen TOPMed |
|
|
rs751176176 CA1089028 |
735 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs587759767 CA1089026 |
740 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373500632 CA29527786 |
744 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA341970918 rs1451775938 |
746 | K>E | No |
ClinGen gnomAD |
|
|
CA1089025 rs765196916 |
750 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1089023 rs776579808 |
751 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1089022 rs776579808 |
751 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341970817 rs1452434094 |
753 | I>T | No |
ClinGen gnomAD |
|
|
rs1025061864 CA29527775 |
757 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 758 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1088971 rs772427493 |
761 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557781017 CA341968872 |
764 | H>R | No |
ClinGen Ensembl |
|
|
rs1571119513 CA341968838 |
767 | S>G | No |
ClinGen Ensembl |
|
|
CA341968820 rs1571119502 |
768 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 770 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 770 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341968755 rs1343452484 |
773 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 773 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 776 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341968709 rs1292275990 |
777 | H>Y | No |
ClinGen TOPMed |
|
|
rs773394398 CA29527062 |
778 | M>V | No |
ClinGen TOPMed |
|
|
CA1088967 rs748792388 |
779 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA29527060 rs1025558522 |
780 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777318720 CA1088966 |
781 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755533251 CA1088965 |
783 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 783 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755533251 CA341968613 |
783 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341968574 rs1557780871 |
784 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 785 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571119253 CA341968487 |
789 | V>G | No |
ClinGen Ensembl |
|
|
rs1571119227 CA341968396 |
793 | V>G | No |
ClinGen Ensembl |
|
|
rs1447598009 CA341968292 COSM895764 |
798 | R>W | Variant assessed as Somatic; impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1571119180 CA341968275 |
799 | S>A | No |
ClinGen Ensembl |
|
|
CA341968250 rs1172273752 |
800 | I>L | No |
ClinGen gnomAD |
|
|
CA341968225 rs1571119148 |
801 | T>P | No |
ClinGen Ensembl |
|
|
CA341968097 rs1191391542 |
807 | G>S | No |
ClinGen gnomAD |
|
|
CA29527006 rs965459912 |
814 | G>S | No |
ClinGen TOPMed |
No associated diseases with Q9UBF8
4 regional properties for Q9UBF8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidylinositol 3-/4-kinase, catalytic domain | 535 - 814 | IPR000403 |
| domain | Phosphoinositide 3-kinase, accessory (PIK) domain | 29 - 242 | IPR001263 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 563 - 577 | IPR018936-1 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 656 - 676 | IPR018936-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.67 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 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. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| rough endoplasmic reticulum membrane | The lipid bilayer surrounding the rough endoplasmic reticulum. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-phosphatidylinositol 4-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = 1-phosphatidyl-1D-myo-inositol 4-phosphate + ADP + 2 H(+). |
| 14-3-3 protein binding | Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| phosphatidylinositol kinase activity | Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39104 | PIK1 | Phosphatidylinositol 4-kinase PIK1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| O02810 | PI4KB | Phosphatidylinositol 4-kinase beta | Bos taurus (Bovine) | PR |
| P42356 | PI4KA | Phosphatidylinositol 4-kinase alpha | Homo sapiens (Human) | PR |
| O00443 | PIK3C2A | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | Homo sapiens (Human) | PR |
| P48736 | PIK3CG | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Homo sapiens (Human) | PR |
| P42336 | PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Homo sapiens (Human) | PR |
| P42338 | PIK3CB | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Homo sapiens (Human) | PR |
| O00329 | PIK3CD | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | Homo sapiens (Human) | PR |
| Q8BKC8 | Pi4kb | Phosphatidylinositol 4-kinase beta | Mus musculus (Mouse) | PR |
| O08561 | Pi4kb | Phosphatidylinositol 4-kinase beta | Rattus norvegicus (Rat) | PR |
| A4IID4 | pi4kb | Phosphatidylinositol 4-kinase beta | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q49GP3 | pi4kb | Phosphatidylinositol 4-kinase beta | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDTVVEPAP | LKPTSEPTSG | PPGNNGGSLL | SVITEGVGEL | SVIDPEVAQK | ACQEVLEKVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLHGGVAVSS | RGTPLELVNG | DGVDSEIRCL | DDPPAQIREE | EDEMGAAVAS | GTAKGARRRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QNNSAKQSWL | LRLFESKLFD | ISMAISYLYN | SKEPGVQAYI | GNRLFCFRNE | DVDFYLPQLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NMYIHMDEDV | GDAIKPYIVH | RCRQSINFSL | QCALLLGAYS | SDMHISTQRH | SRGTKLRKLI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSDELKPAHR | KRELPSLSPA | PDTGLSPSKR | THQRSKSDAT | ASISLSSNLK | RTASNPKVEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDEELSSSTE | SIDNSFSSPV | RLAPEREFIK | SLMAIGKRLA | TLPTKEQKTQ | RLISELSLLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HKLPARVWLP | TAGFDHHVVR | VPHTQAVVLN | SKDKAPYLIY | VEVLECENFD | TTSVPARIPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NRIRSTRSVE | NLPECGITHE | QRAGSFSTVP | NYDNDDEAWS | VDDIGELQVE | LPEVHTNSCD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NISQFSVDSI | TSQESKEPVF | IAAGDIRRRL | SEQLAHTPTA | FKRDPEDPSA | VALKEPWQEK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VRRIREGSPY | GHLPNWRLLS | VIVKCGDDLR | QELLAFQVLK | QLQSIWEQER | VPLWIKPYKI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LVISADSGMI | EPVVNAVSIH | QVKKQSQLSL | LDYFLQEHGS | YTTEAFLSAQ | RNFVQSCAGY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CLVCYLLQVK | DRHNGNILLD | AEGHIIHIDF | GFILSSSPRN | LGFETSAFKL | TTEFVDVMGG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LDGDMFNYYK | MLMLQGLIAA | RKHMDKVVQI | VEIMQQGSQL | PCFHGSSTIR | NLKERFHMSM |
| 790 | 800 | 810 | |||
| TEEQLQLLVE | QMVDGSMRSI | TTKLYDGFQY | LTNGIM |