Q9Y262
PR
Gene name |
EIF3L |
Protein name |
Eukaryotic translation initiation factor 3 subunit L |
Names |
eIF3l, Eukaryotic translation initiation factor 3 subunit 6-interacting protein, Eukaryotic translation initiation factor 3 subunit E-interacting protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51386 |
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
14 structures for Q9Y262
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J8B | EM | - | L | 1-515 | PDB |
| 3J8C | EM | - | L | 1-515 | PDB |
| 6FEC | EM | 630 A | 7 | 1-564 | PDB |
| 6YBD | EM | 330 A | 5 | 1-564 | PDB |
| 6ZMW | EM | 370 A | 5 | 1-564 | PDB |
| 6ZON | EM | 300 A | L | 1-564 | PDB |
| 6ZP4 | EM | 290 A | L | 1-564 | PDB |
| 6ZVJ | EM | 380 A | L | 181-552 | PDB |
| 7A09 | EM | 350 A | L | 1-564 | PDB |
| 7QP6 | EM | 470 A | 5 | 1-564 | PDB |
| 7QP7 | EM | 370 A | 5 | 1-564 | PDB |
| 8OZ0 | EM | 350 A | K | 1-564 | PDB |
| 8PPL | EM | 265 A | I5 | 1-564 | PDB |
| AF-Q9Y262-F1 | Predicted | AlphaFoldDB |
333 variants for Q9Y262
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs766985954 CA10226682 |
2 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs766985954 CA411473847 |
2 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411473865 rs1199562373 |
3 | Y>F | No |
ClinGen gnomAD |
|
|
rs1482437483 CA411473857 |
3 | Y>H | No |
ClinGen gnomAD |
|
|
rs754308322 CA10226683 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10226685 rs765452125 |
5 | A>G | No |
ClinGen ExAC |
|
|
rs755402882 CA10226684 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs11551389 CA324155837 |
7 | D>G | No |
ClinGen Ensembl |
|
|
CA411473957 rs1314308236 |
7 | D>Y | No |
ClinGen TOPMed |
|
|
CA10226686 rs752992953 |
8 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs777950587 CA10226688 |
9 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA324155843 rs992209191 |
9 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA411474022 rs992209191 |
9 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10226689 rs751635601 |
10 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757244575 CA10226690 |
11 | E>K | No |
ClinGen ExAC |
|
|
rs1291657146 CA411475097 |
13 | A>S | No |
ClinGen gnomAD |
|
|
CA411475104 rs1256463707 |
13 | A>V | No |
ClinGen TOPMed |
|
|
rs970488362 CA324156231 |
14 | Y>D | No |
ClinGen TOPMed |
|
|
rs972790517 CA324156238 |
15 | D>H | No |
ClinGen TOPMed |
|
|
rs11551386 CA324156244 |
16 | P>T | No |
ClinGen Ensembl |
|
|
rs373682490 CA10226717 |
17 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10226714 rs751723535 |
17 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs757334226 CA10226715 |
17 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1247722052 CA411475181 |
18 | A>G | No |
ClinGen gnomAD |
|
|
CA10226718 rs755985240 |
19 | Y>H | No |
ClinGen ExAC |
|
|
rs984408504 CA324156300 |
20 | P>L | No |
ClinGen TOPMed |
|
|
CA324156308 rs904848316 |
22 | D>E | No |
ClinGen Ensembl |
|
|
rs749029337 CA10226720 |
23 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311378746 CA411475305 |
25 | M>L | No |
ClinGen TOPMed |
|
|
rs200341537 CA324156310 |
25 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs200341537 CA10226721 |
25 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1347058676 CA411475367 |
28 | G>R | No |
ClinGen gnomAD |
|
|
CA10226758 rs753747792 |
32 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs570948690 CA10226761 |
33 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10226760 rs754895073 |
33 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10226759 rs754895073 |
33 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411475941 rs1375362523 |
34 | L>F | No |
ClinGen TOPMed |
|
|
rs777584086 CA10226763 |
37 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10226764 rs746606263 |
38 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756749787 CA10226765 |
38 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411476012 rs1322115505 |
39 | Q>H | No |
ClinGen gnomAD |
|
|
rs780707552 CA10226767 |
43 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411476072 rs1569109218 |
44 | T>A | No |
ClinGen Ensembl |
|
|
rs139321489 CA10226768 |
44 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139321489 CA10226769 |
44 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748495579 CA10226770 |
46 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA411476105 rs1167243519 |
46 | Q>P | No |
ClinGen gnomAD |
|
|
CA324157299 rs746983707 |
49 | P>L | No |
ClinGen Ensembl |
|
|
rs538389346 CA324157303 |
57 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA411476237 rs1358554564 |
57 | Q>P | No |
ClinGen gnomAD |
|
|
rs1053258240 CA324157305 |
59 | F>L | No |
ClinGen Ensembl |
|
|
rs773306642 CA10226772 |
60 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760908440 CA10226773 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144080891 CA10226774 |
65 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324157334 rs11551392 |
69 | Q>* | No |
ClinGen Ensembl |
|
|
rs1249588648 CA411476368 |
69 | Q>H | No |
ClinGen gnomAD |
|
|
CA10226775 rs776750051 |
71 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1262510622 CA411476413 |
73 | E>K | No |
ClinGen TOPMed |
|
|
rs1216801994 CA411476434 |
74 | L>R | No |
ClinGen TOPMed |
|
|
rs1368727868 CA411476456 |
76 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10226778 rs752625789 |
77 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389427027 CA411476478 |
78 | R>C | No |
ClinGen gnomAD |
|
|
rs867466509 CA324157359 |
78 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA411476479 rs867466509 |
78 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411476506 rs1323155810 |
81 | S>I | No |
ClinGen gnomAD |
|
|
CA10226779 rs762848768 |
83 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA411476520 rs1386896327 |
83 | V>L | No |
ClinGen gnomAD |
|
|
rs1293834308 CA411476531 |
84 | I>T | No |
ClinGen TOPMed |
|
|
rs763941591 CA10226780 |
89 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411476581 rs1290072924 |
90 | E>Q | No |
ClinGen TOPMed |
|
|
rs1342538260 CA411476608 |
93 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs140860349 CA10226781 |
94 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756916168 CA10226782 |
95 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA411476640 rs9610856 |
95 | Y>D | No |
ClinGen gnomAD |
|
|
CA324157375 rs9610856 |
95 | Y>H | No |
ClinGen gnomAD |
|
|
rs1270000216 CA411476668 |
96 | E>D | No |
ClinGen gnomAD |
|
|
rs971445833 CA324157430 |
98 | S>T | No |
ClinGen TOPMed |
|
|
rs779494865 CA10226808 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411477792 rs1279132250 |
101 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA411477790 rs1279132250 |
101 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411477810 rs1178274985 |
103 | T>A | No |
ClinGen TOPMed |
|
|
rs1206886812 CA411477913 |
107 | F>L | No |
ClinGen gnomAD |
|
|
rs768005783 CA324160291 |
108 | K>R | No |
ClinGen TOPMed |
|
|
CA411477966 rs1256536218 |
110 | T>I | No |
ClinGen TOPMed |
|
|
rs1324483574 CA411477984 |
111 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145460534 CA10226811 |
116 | E>V | No |
ClinGen ESP ExAC |
|
|
CA324160321 rs112260260 |
117 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10226812 rs112260260 |
117 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs781481791 CA10226814 |
118 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1431783626 CA411478166 |
122 | V>I | No |
ClinGen gnomAD |
|
|
CA10226815 rs201545819 |
124 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054143991 CA324162740 |
125 | D>G | No |
ClinGen Ensembl |
|
|
CA411479635 rs1325155264 |
126 | A>T | No |
ClinGen gnomAD |
|
|
CA324162741 rs558967675 |
126 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 128 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360782647 CA411480033 |
137 | Y>C | No |
ClinGen gnomAD |
|
|
CA411480054 rs1314162303 |
138 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1319417187 CA411480120 |
139 | H>R | No |
ClinGen gnomAD |
|
|
CA10226832 rs746143326 |
140 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781364202 CA10226831 |
140 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1233200053 CA411480131 |
140 | I>V | No |
ClinGen gnomAD |
|
|
rs756377025 CA10226833 |
141 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341086515 CA411480235 |
144 | V>I | No |
ClinGen gnomAD |
|
|
rs780350771 CA10226834 |
145 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759062483 CA10226870 |
146 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA324165406 rs898806054 |
147 | G>R | No |
ClinGen Ensembl |
|
|
CA10226872 rs774832603 |
160 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs768127139 CA10226875 |
162 | N>K | No |
ClinGen ExAC |
|
|
rs1221333229 CA411481891 |
162 | N>S | No |
ClinGen gnomAD |
|
|
rs750906417 CA10226878 |
165 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761129339 CA10226879 |
166 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411482056 rs1206144941 |
167 | I>V | No |
ClinGen gnomAD |
|
|
rs779963254 CA10226896 |
171 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391673078 CA411482297 |
173 | P>S | No |
ClinGen gnomAD |
|
|
rs768219088 CA10226898 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1325453450 CA411482329 |
175 | P>A | No |
ClinGen TOPMed |
|
|
rs1166755170 CA411482344 |
176 | L>V | No |
ClinGen gnomAD |
|
|
rs751540875 CA324165595 |
181 | Q>R | No |
ClinGen Ensembl |
|
|
CA324165600 rs754708343 |
182 | W>C | No |
ClinGen Ensembl |
|
|
rs960311047 CA324165608 |
184 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs989303246 CA324165611 |
186 | I>V | No |
ClinGen gnomAD |
|
|
rs151317788 CA411482648 |
187 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394201099 CA411482645 |
187 | I>T | No |
ClinGen gnomAD |
|
|
rs763139923 CA10226925 |
201 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs764198672 CA10226926 |
201 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1473168458 CA411485943 |
202 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1473168458 CA411485946 |
202 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1162023923 CA411485962 |
203 | K>E | No |
ClinGen gnomAD |
|
|
rs201168565 CA324172998 |
203 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 206 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362406495 CA411486025 |
207 | K>M | No |
ClinGen gnomAD |
|
|
rs772818107 CA10226927 |
208 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1404679381 CA411486064 |
211 | E>V | No |
ClinGen gnomAD |
|
|
rs141774718 CA10226928 |
212 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1212290512 CA411486083 |
214 | F>L | No |
ClinGen TOPMed |
|
|
CA10226929 rs767371369 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10226930 rs750311863 |
216 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1382333228 CA411486125 |
218 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 222 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10226931 rs755896770 |
222 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs867982609 CA324173025 |
228 | L>F | No |
ClinGen Ensembl |
|
|
CA10226932 rs373478865 |
229 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1324741179 CA411486280 |
230 | V>I | No |
ClinGen gnomAD |
|
|
rs762861946 CA324173051 |
235 | V>I | No |
ClinGen Ensembl |
|
|
rs1010279745 CA324173072 |
239 | N>S | No |
ClinGen gnomAD |
|
|
CA10226936 rs747646009 |
241 | N>T | No |
ClinGen ExAC |
|
|
rs1325088474 CA411486425 |
242 | R>* | No |
ClinGen TOPMed |
|
|
CA10226937 rs771550369 |
242 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278920982 CA411486436 |
243 | Q>R | No |
ClinGen gnomAD |
|
|
CA324173087 rs966609633 |
246 | V>A | No |
ClinGen gnomAD |
|
|
rs1379761675 CA411486550 |
250 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10226965 rs773307510 |
255 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10226966 rs760592109 |
259 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1163626581 CA411487207 |
260 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1246147122 CA411487204 |
260 | Y>D | No |
ClinGen gnomAD |
|
|
CA411487222 rs766324137 |
262 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10226968 rs150200232 |
262 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10226969 rs150200232 |
262 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA324175721 rs150200232 |
262 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766324137 CA10226967 |
262 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411487231 rs1213407855 |
263 | H>R | No |
ClinGen gnomAD |
|
|
CA411487265 rs1486935270 |
266 | Y>C | No |
ClinGen gnomAD |
|
|
rs1406637319 CA411487304 |
269 | L>F | No |
ClinGen TOPMed |
|
|
rs758047383 CA10226972 |
276 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411487400 rs1163890297 |
278 | L>F | No |
ClinGen gnomAD |
|
|
rs1432384069 CA411487413 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs149341352 CA10226976 |
281 | H>Q | No |
ClinGen ESP ExAC |
|
|
rs202247175 CA10226975 |
281 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372967848 CA411487442 |
282 | S>Y | No |
ClinGen gnomAD |
|
|
rs769034639 CA10226979 |
286 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA411487545 rs1333282431 |
290 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772330883 CA10226982 |
292 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411487685 rs1241781804 |
297 | I>V | No |
ClinGen gnomAD |
|
|
CA411487704 rs760820592 |
298 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA10226984 rs760820592 |
298 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411487778 rs1255530299 |
301 | K>Q | No |
ClinGen gnomAD |
|
|
CA10226985 rs771066209 |
302 | K>N | No |
ClinGen ExAC |
|
|
CA10227004 rs745840459 |
304 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs536981260 CA10227003 |
304 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554941299 CA10227005 |
311 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10227008 rs763759372 |
317 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA324176357 rs1000404223 |
317 | Y>H | No |
ClinGen TOPMed |
|
|
CA10227010 rs371837127 |
320 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10227011 rs767058832 |
322 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA411488901 rs1205899248 |
327 | R>C | No |
ClinGen gnomAD |
|
|
rs1205899248 CA411488897 |
327 | R>G | No |
ClinGen gnomAD |
|
|
CA324176362 rs376536658 |
327 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10227013 rs376536658 |
327 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1439422406 CA411488934 |
328 | R>C | No |
ClinGen gnomAD |
|
|
rs765784918 CA10227014 |
328 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1210746382 CA411488970 |
329 | Y>C | No |
ClinGen TOPMed |
|
|
CA324176378 rs11551380 |
330 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1462562496 CA411489035 |
331 | D>Y | No |
ClinGen gnomAD |
|
|
rs777949481 CA10227017 |
334 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1453440089 CA411489169 |
337 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411489167 rs1453440089 |
337 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10227019 rs757521283 |
338 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408652952 CA411489288 |
340 | L>F | No |
ClinGen gnomAD |
|
|
CA324176394 rs2899294 |
341 | L>I | No |
ClinGen Ensembl |
|
|
rs1353582438 CA411489401 |
343 | I>V | No |
ClinGen gnomAD |
|
|
rs1443621132 CA411489571 |
347 | K>T | No |
ClinGen gnomAD |
|
|
CA10227026 rs773983015 |
349 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229418067 CA411489744 |
350 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA411489841 rs1271947489 |
351 | Q>L | No |
ClinGen gnomAD |
|
|
CA411489838 rs1271947489 |
351 | Q>R | No |
ClinGen gnomAD |
|
|
rs142568173 CA10227028 |
353 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272258341 CA411489946 |
354 | T>M | No |
ClinGen gnomAD |
|
|
rs1215276616 CA411489989 |
355 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411490149 rs765769337 |
359 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10227031 rs765769337 |
359 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569121907 CA411491666 |
362 | K>R | No |
ClinGen Ensembl |
|
|
rs764522830 CA10227053 |
366 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1400371009 CA411491886 |
368 | H>N | No |
ClinGen gnomAD |
|
|
rs762298655 CA411491927 |
369 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762298655 CA10227055 |
369 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411492019 rs1197634723 |
372 | A>V | No |
ClinGen TOPMed |
|
|
rs756257327 CA10227058 |
374 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA324177293 rs990003683 |
376 | T>M | No |
ClinGen TOPMed |
|
|
CA10227060 rs777349139 |
377 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10227063 rs748041513 |
380 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10227062 rs778830324 |
380 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771878433 CA10227064 |
381 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10227065 rs777523428 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411492357 rs9466 |
382 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10227066 rs746705075 |
382 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10227068 rs776263130 |
385 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 385 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373585941 CA10227071 |
390 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320953795 CA411492603 |
391 | R>Q | No |
ClinGen TOPMed |
|
|
rs1310968870 CA411492591 |
391 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1397782392 CA411492824 |
398 | M>I | No |
ClinGen TOPMed |
|
|
CA10227073 rs768031159 |
398 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10227074 rs773704624 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs761011952 CA10227075 |
400 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761011952 CA324177325 |
400 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428435563 CA411493054 |
406 | P>S | No |
ClinGen TOPMed |
|
|
rs369601340 CA10227077 |
407 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411493135 rs1434523793 |
409 | Y>H | No |
ClinGen gnomAD |
|
|
CA411493343 rs1279037565 |
414 | S>N | No |
ClinGen gnomAD |
|
|
rs765254322 CA10227081 |
416 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs11551383 CA324177347 |
417 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 420 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452832290 CA411493606 |
422 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10227083 rs758301717 |
424 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10227084 rs777613122 |
427 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324177363 rs774785447 |
428 | Y>C | No |
ClinGen TOPMed |
|
|
CA411493735 rs1394026205 |
428 | Y>H | No |
ClinGen gnomAD |
|
|
CA10227085 rs746766954 |
430 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746766954 CA411493805 |
430 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324177376 rs907744137 |
431 | V>A | No |
ClinGen TOPMed |
|
|
CA10227086 rs757010146 |
431 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411493845 rs780737692 |
432 | H>P | No |
ClinGen ExAC |
|
|
CA411493848 rs1366402645 |
432 | H>Q | No |
ClinGen TOPMed |
|
|
CA10227087 rs780737692 |
432 | H>R | No |
ClinGen ExAC |
|
|
rs745473648 CA10227088 |
433 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769475626 CA10227089 |
434 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748727702 CA10227091 |
436 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10227092 rs772689759 |
437 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773792708 CA10227093 |
438 | E>Q | No |
ClinGen ExAC |
|
|
CA411494029 rs1327666008 |
439 | P>S | No |
ClinGen TOPMed |
|
|
rs760956614 CA10227094 |
440 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA411494048 rs1408530155 |
440 | F>V | No |
ClinGen TOPMed |
|
|
rs933103404 CA324177385 |
444 | L>P | No |
ClinGen Ensembl |
|
|
CA324177393 rs538134982 |
448 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA411494261 rs1423558558 |
450 | E>A | No |
ClinGen TOPMed |
|
|
CA411494249 rs1569122167 |
450 | E>K | No |
ClinGen Ensembl |
|
|
rs1255322591 CA411494276 |
451 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs547479833 CA324177399 |
456 | Q>H | No |
ClinGen Ensembl |
|
|
CA10227097 rs759785314 |
458 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA411494416 rs1482001559 |
458 | S>P | No |
ClinGen TOPMed |
|
|
rs765342369 CA10227098 |
460 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1012145731 CA324177411 |
461 | R>H | No |
ClinGen TOPMed |
|
|
CA411494560 rs1371217170 |
465 | K>N | No |
ClinGen gnomAD |
|
|
rs757960234 CA10227100 |
465 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 467 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411494700 rs1459541368 |
471 | P>L | No |
ClinGen gnomAD |
|
|
CA411494771 rs1601779027 |
474 | K>R | No |
ClinGen Ensembl |
|
|
rs1292657056 CA411494858 |
477 | G>D | No |
ClinGen gnomAD |
|
|
rs377263699 CA10227103 |
480 | D>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1357860721 CA411494969 |
482 | T>R | No |
ClinGen TOPMed |
|
|
CA411495027 rs1292853457 |
485 | E>D | No |
ClinGen gnomAD |
|
|
CA10227105 rs781017938 |
487 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs903452935 CA411495058 |
487 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221067811 CA411495229 |
494 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1390431733 CA411495248 |
495 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs768210839 CA10227110 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324177451 rs62235091 |
503 | T>N | No |
ClinGen Ensembl |
|
|
CA411495449 rs1601779098 |
504 | S>G | No |
ClinGen Ensembl |
|
|
rs771251436 CA10227113 |
505 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA411495519 rs1419760525 |
506 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324177460 rs960022400 |
508 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10227115 rs759745071 |
510 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762130059 CA324177465 |
511 | G>D | No |
ClinGen Ensembl |
|
|
rs1397422252 CA411495715 |
516 | A>S | No |
ClinGen gnomAD |
|
|
rs1359363864 CA411495770 |
519 | V>A | No |
ClinGen gnomAD |
|
|
CA10227117 rs769991141 |
519 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs769991141 CA10227116 |
519 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10227118 rs763051302 |
522 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295694711 CA411495842 |
523 | I>F | No |
ClinGen gnomAD |
|
|
CA10227119 rs764111523 |
523 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA411495894 rs1601779197 |
524 | D>G | No |
ClinGen Ensembl |
|
|
rs1422456529 CA411498494 |
529 | H>R | No |
ClinGen gnomAD |
|
|
rs201577615 CA324181904 |
531 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs774028718 CA10227145 |
531 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10227149 rs765907943 |
536 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10227148 rs765907943 |
536 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781724982 CA411498594 |
538 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781724982 CA10227150 |
538 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301917300 CA752989498 |
539 | Y>* | No |
ClinGen TOPMed |
|
|
CA411498695 rs1273687830 |
547 | I>N | No |
ClinGen gnomAD |
|
|
rs749577319 CA10227154 |
549 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA411498758 rs1196481919 |
552 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756695456 CA10227197 |
554 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10227198 rs368635683 |
555 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755388764 CA10227200 |
559 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411499590 rs1463765686 |
560 | M>L | No |
ClinGen TOPMed |
|
|
CA411499622 rs1231667754 |
562 | Q>* | No |
ClinGen gnomAD |
|
|
CA324182891 rs965546316 |
564 | P>A | No |
ClinGen TOPMed |
|
|
CA324182915 rs199910157 |
564 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199910157 CA10227201 |
564 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs965546316 CA411499654 |
564 | P>T | No |
ClinGen TOPMed |
|
|
rs748446114 CA10227202 |
565 | P>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y262
1 regional properties for Q9Y262
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Proteasome component (PCI) domain | 331 - 537 | IPR000717 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| eukaryotic 43S preinitiation complex | A protein complex composed of the 40S ribosomal subunit plus eIF1A, eIF3, and eIF2-GTP-bound methionyl-initiator methionine tRNA. |
| eukaryotic 48S preinitiation complex | A protein complex composed of the small ribosomal subunit, eIF3, eIF1A, methionyl-initiatior methionine and a capped mRNA. The complex is initially positioned at the 5'-end of the capped mRNA. |
| eukaryotic translation initiation factor 3 complex | A complex of several polypeptides that plays at least two important roles in protein synthesis: First, eIF3 binds to the 40S ribosome and facilitates loading of the Met-tRNA/eIF2.GTP ternary complex to form the 43S preinitiation complex. Subsequently, eIF3 apparently assists eIF4 in recruiting mRNAs to the 43S complex. The eIF3 complex contains five conserved core subunits, and may contain several additional proteins; the non-core subunits are thought to mediate association of the complex with specific sets of mRNAs. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| translation initiation factor activity | Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| formation of cytoplasmic translation initiation complex | Joining of the large subunit, with release of IF2/eIF2 and IF3/eIF3. This leaves the functional ribosome at the AUG, with the methionyl/formyl-methionyl-tRNA positioned at the P site. |
| translational initiation | The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. |
| viral translational termination-reinitiation | A process which occurs as part of viral mRNA translation which allows expression of a downstream open reading frame (ORF) in a dicistronic mRNA. In this process, ribosomes translate the upstream ORF but following termination, a proportion of 40S subunits remain tethered to the mRNA and go on to re-initiate translation at the start codon of the downstream ORF. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3ZCK1 | EIF3L | Eukaryotic translation initiation factor 3 subunit L | Bos taurus (Bovine) | PR |
| Q5F428 | EIF3L | Eukaryotic translation initiation factor 3 subunit L | Gallus gallus (Chicken) | PR |
| A5A6M4 | EIF3L | Eukaryotic translation initiation factor 3 subunit L | Pan troglodytes (Chimpanzee) | PR |
| Q8QZY1 | Eif3l | Eukaryotic translation initiation factor 3 subunit L | Mus musculus (Mouse) | PR |
| Q6P878 | eif3l | Eukaryotic translation initiation factor 3 subunit L | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q7T2A5 | eif3l | Eukaryotic translation initiation factor 3 subunit L | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSYPADDYES | EAAYDPYAYP | SDYDMHTGDP | KQDLAYERQY | EQQTYQVIPE | VIKNFIQYFH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTVSDLIDQK | VYELQASRVS | SDVIDQKVYE | IQDIYENSWT | KLTERFFKNT | PWPEAEAIAP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVGNDAVFLI | LYKELYYRHI | YAKVSGGPSL | EQRFESYYNY | CNLFNYILNA | DGPAPLELPN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QWLWDIIDEF | IYQFQSFSQY | RCKTAKKSEE | EIDFLRSNPK | IWNVHSVLNV | LHSLVDKSNI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NRQLEVYTSG | GDPESVAGEY | GRHSLYKMLG | YFSLVGLLRL | HSLLGDYYQA | IKVLENIELN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKSMYSRVPE | CQVTTYYYVG | FAYLMMRRYQ | DAIRVFANIL | LYIQRTKSMF | QRTTYKYEMI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NKQNEQMHAL | LAIALTMYPM | RIDESIHLQL | REKYGDKMLR | MQKGDPQVYE | ELFSYSCPKF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSPVVPNYDN | VHPNYHKEPF | LQQLKVFSDE | VQQQAQLSTI | RSFLKLYTTM | PVAKLAGFLD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LTEQEFRIQL | LVFKHKMKNL | VWTSGISALD | GEFQSASEVD | FYIDKDMIHI | ADTKVARRYG |
| 550 | 560 | ||||
| DFFIRQIHKF | EELNRTLKKM | GQRP |