Q14576
PR
Gene name |
ELAVL3 (HUC, PLE21) |
Protein name |
ELAV-like protein 3 |
Names |
Hu-antigen C, HuC, Paraneoplastic cerebellar degeneration-associated antigen, Paraneoplastic limbic encephalitis antigen 21 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1995 |
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 Q14576
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14576-F1 | Predicted | AlphaFoldDB |
204 variants for Q14576
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404104970 rs1251850906 |
4 | Q>* | No |
ClinGen gnomAD |
|
|
CA404104940 rs1482442814 |
5 | I>M | No |
ClinGen gnomAD |
|
|
rs765329179 CA9213715 |
5 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9213714 rs761824507 |
7 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353110639 CA404104886 |
8 | A>T | No |
ClinGen gnomAD |
|
|
rs1599542618 CA404104720 |
13 | V>G | No |
ClinGen Ensembl |
|
|
CA9213705 rs768237882 |
14 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9213703 rs768237882 |
14 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9213706 CA9213707 rs201228575 |
14 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9213704 rs768237882 |
14 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751148694 | 16 | G>A | Variant assessed as Somatic; 0.0005025 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434993506 CA404104661 |
16 | G>A | No |
ClinGen gnomAD |
|
|
CA9213699 rs778860619 |
16 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404104664 rs1434993506 |
16 | G>D | No |
ClinGen gnomAD |
|
|
CA9213698 rs778860619 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778860619 CA9213700 COSM1718729 |
16 | G>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404104622 rs1359477794 |
17 | P>L | No |
ClinGen gnomAD |
|
| rs751148694 | 18 | A>G | Variant assessed as Somatic; 0.0002233 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404104594 rs1364883553 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA9213692 rs763888591 |
20 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763888591 CA404104565 |
20 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM395686 CA404104550 rs1568383858 |
21 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9213687 rs759692370 |
28 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599542466 CA404104396 |
29 | G>S | No |
ClinGen Ensembl |
|
|
CA404104336 rs1599542463 |
31 | N>K | No |
ClinGen Ensembl |
|
|
rs144461011 CA404104280 |
35 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351425465 CA404104278 |
36 | D>N | No |
ClinGen gnomAD |
|
|
rs1568383831 CA404104262 |
37 | S>G | No |
ClinGen Ensembl |
|
|
rs1261267261 CA404104242 |
38 | K>R | No |
ClinGen gnomAD |
|
|
CA404104193 rs1206964363 |
42 | I>V | No |
ClinGen TOPMed |
|
|
rs144705960 CA9213684 |
43 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404104059 rs1339512702 |
49 | N>Y | No |
ClinGen gnomAD |
|
|
CA404104031 rs1245909498 |
51 | T>N | No |
ClinGen TOPMed |
|
|
CA9213681 rs567690713 |
51 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404104027 rs1446202032 |
52 | Q>E | No |
ClinGen TOPMed |
|
|
rs1254830290 CA404103988 |
55 | F>L | No |
ClinGen gnomAD |
|
|
rs1384989713 CA404103965 |
57 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404103932 rs201270169 |
59 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305319986 rs369938051 |
60 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs534439072 CA9213677 |
62 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404103889 rs1420618939 |
63 | G>A | No |
ClinGen gnomAD |
|
|
rs749068597 CA9213675 |
64 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149769933 CA9213674 |
65 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9213672 rs369735637 |
66 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1251103 CA404103858 rs1407899639 |
66 | E>K | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs751803404 CA9213669 |
72 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404103777 rs755011401 |
72 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1233678323 CA404103734 |
75 | I>S | No |
ClinGen gnomAD |
|
|
rs1358223556 CA404103715 |
77 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305319653 rs1062594 |
88 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs982364231 CA305319650 |
90 | P>A | No |
ClinGen Ensembl |
|
|
CA9213647 rs765521247 |
90 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9213646 rs759286535 |
91 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305319642 rs1026498677 |
98 | N>S | No |
ClinGen Ensembl |
|
|
rs1599541818 CA404103416 |
99 | T>P | No |
ClinGen Ensembl |
|
|
rs1190164525 CA404103400 |
101 | N>S | No |
ClinGen TOPMed |
|
|
rs1391975232 CA404103380 |
104 | K>I | No |
ClinGen gnomAD |
|
|
CA404103361 rs1231086572 |
107 | T>A | No |
ClinGen gnomAD |
|
|
rs1016044157 CA305319612 |
107 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9213619 rs761582786 |
123 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776476930 CA9213618 |
127 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746949999 CA9213616 |
129 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9213614 rs370390792 |
131 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1268476686 CA404100376 |
134 | K>R | No |
ClinGen gnomAD |
|
|
rs1243383869 CA404100249 |
137 | S>G | No |
ClinGen gnomAD |
|
|
CA9213613 rs745935949 |
137 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404100216 rs1334827925 |
138 | Q>E | No |
ClinGen gnomAD |
|
|
rs1311134575 CA404100195 |
138 | Q>H | No |
ClinGen TOPMed |
|
|
CA404100174 rs1271820734 |
139 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305313712 rs868461722 |
140 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA404100127 rs1234237106 |
141 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404099921 rs1213073380 |
150 | R>C | No |
ClinGen gnomAD |
|
|
COSM3821935 CA9213609 rs778296387 |
150 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1289579728 CA404099900 |
152 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404099846 rs1323747400 |
155 | R>H | No |
ClinGen gnomAD |
|
|
rs1402825405 CA404099734 |
160 | Q>* | No |
ClinGen gnomAD |
|
|
CA9213605 rs757885370 |
160 | Q>R | No |
ClinGen ExAC |
|
|
rs749942131 CA9213604 |
162 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9213573 rs774089472 |
165 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771065598 CA9213572 |
166 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1331675804 CA404099357 |
172 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763101515 CA9213571 |
172 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| TCGA novel | 181 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 184 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 185 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404098970 rs1389472703 |
187 | N>K | No |
ClinGen gnomAD |
|
|
CA404098939 rs770134234 |
189 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1375189684 CA404098951 |
189 | Q>K | No |
ClinGen gnomAD |
|
|
rs748578298 CA9213568 |
190 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs148057857 CA9213567 |
191 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3422402 rs1363746056 CA404098857 |
194 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs372549324 CA9213563 |
195 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9213564 rs372549324 |
195 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777472088 CA9213561 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA404098481 rs1349973806 |
207 | S>I | No |
ClinGen gnomAD |
|
|
CA9213558 rs767350153 |
210 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759202119 CA9213557 |
210 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs759202119 CA404098382 |
210 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA305313462 rs992691589 |
211 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1353186209 CA404098305 |
215 | L>F | No |
ClinGen gnomAD |
|
|
rs1599530085 CA404098299 |
215 | L>P | No |
ClinGen Ensembl |
|
|
CA404098293 rs1599530082 |
216 | T>P | No |
ClinGen Ensembl |
|
|
CA404098264 rs1396133878 |
218 | L>F | No |
ClinGen gnomAD |
|
|
rs1156275725 CA404098198 |
222 | S>P | No |
ClinGen gnomAD |
|
|
rs776673408 CA9213551 |
223 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9213550 rs776673408 |
223 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9213549 rs769092105 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1354722464 CA404098164 |
224 | R>W | No |
ClinGen TOPMed |
|
|
CA404098134 rs1452485294 |
225 | R>C | No |
ClinGen gnomAD |
|
|
CA9213548 rs747316633 COSM1251104 |
225 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404098073 rs1188446733 |
227 | A>S | No |
ClinGen gnomAD |
|
|
rs1188446733 CA404098078 |
227 | A>T | No |
ClinGen gnomAD |
|
|
CA9213546 rs772566058 |
228 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404098016 rs1480160375 |
230 | L>P | No |
ClinGen gnomAD |
|
|
rs1599529987 CA404098004 |
231 | H>P | No |
ClinGen Ensembl |
|
|
rs1486846331 CA404097960 |
233 | Q>P | No |
ClinGen gnomAD |
|
|
CA404097931 rs1268612839 |
234 | T>I | No |
ClinGen gnomAD |
|
|
rs1599529974 CA404097947 |
234 | T>P | No |
ClinGen Ensembl |
|
|
rs571838282 CA9213544 |
236 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1443162745 CA404097842 |
238 | R>P | No |
ClinGen TOPMed |
|
|
CA9213543 rs755556240 |
238 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1452564562 CA404141392 |
239 | L>V | No |
ClinGen gnomAD |
|
|
CA404141371 rs1276753096 |
241 | N>D | No |
ClinGen TOPMed |
|
|
CA305361951 rs1015844401 |
242 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9213514 rs764436818 |
245 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs775717306 CA404141299 |
247 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372263225 CA9213513 |
247 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 247 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372263225 CA404141301 |
247 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs550356387 CA9213511 |
248 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9213510 rs759846224 |
249 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404141275 rs1200325639 |
250 | K>* | No |
ClinGen TOPMed |
|
|
CA9213485 rs143463189 |
254 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA404140724 rs1208794157 |
254 | S>P | No |
ClinGen gnomAD |
|
|
rs1024925134 CA305360549 |
255 | L>F | No |
ClinGen TOPMed |
|
|
CA9213482 rs771851135 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9213480 rs778868611 |
260 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9213476 rs367695200 |
262 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404140639 rs1334554298 |
263 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1291696532 CA404140631 |
263 | A>V | No |
ClinGen gnomAD |
|
|
rs1568377495 CA404140609 |
265 | D>E | No |
ClinGen Ensembl |
|
|
CA9213473 rs755203589 COSM990928 |
265 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404140600 rs1428644202 |
266 | G>D | No |
ClinGen gnomAD |
|
|
rs751712994 CA9213472 |
266 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA404140588 rs1425766004 |
267 | M>I | No |
ClinGen TOPMed |
|
|
CA404140597 rs1343379834 |
267 | M>L | No |
ClinGen gnomAD |
|
|
rs763324902 CA9213470 |
269 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393513165 CA404140565 |
270 | L>P | No |
ClinGen gnomAD |
|
|
rs144639070 CA9213469 |
271 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs144639070 CA404140554 |
271 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404140541 rs1185432149 |
273 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9213466 rs775131216 |
274 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774108767 CA9213463 |
276 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404140516 rs1568377442 |
276 | S>P | No |
ClinGen Ensembl |
|
|
CA305360466 rs944284070 |
277 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9213459 rs777611965 |
278 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748019175 CA9213456 |
279 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs371354561 CA9213455 |
279 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404140479 rs1298384019 |
280 | A>S | No |
ClinGen gnomAD |
|
|
CA9213453 rs751799306 |
280 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757854568 CA9213448 |
282 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9213446 rs767167994 |
284 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9213445 rs759069259 |
285 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1205117141 CA404140399 |
288 | V>M | No |
ClinGen gnomAD |
|
|
CA404140373 rs1599525965 |
290 | N>T | No |
ClinGen Ensembl |
|
|
rs1568377327 CA404140366 |
291 | L>V | No |
ClinGen Ensembl |
|
|
CA305360414 rs978232643 |
293 | P>L | No |
ClinGen TOPMed |
|
|
rs1349609306 CA404140353 |
293 | P>T | No |
ClinGen TOPMed |
|
|
rs553002178 CA9213440 |
295 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 296 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9213439 rs140647234 |
296 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334570987 CA404140304 |
297 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA305360395 rs1013542667 |
298 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370166374 CA404140248 |
303 | L>V | No |
ClinGen gnomAD |
|
|
CA9213434 rs758637215 |
311 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407664102 COSM990927 CA404140113 |
317 | R>C | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1249805221 CA404140063 |
322 | N>T | No |
ClinGen TOPMed |
|
|
CA404139942 rs1434230400 |
333 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754575890 CA9213428 |
335 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs765748795 CA9213426 |
336 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761571357 CA9213422 |
343 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404139829 rs776585368 |
344 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776585368 CA9213421 |
344 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9213417 rs145408161 |
352 | E>K | No |
ClinGen ESP ExAC |
|
|
CA404139736 rs778955437 |
354 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9213415 rs778955437 |
354 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304058631 CA404139658 |
362 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404139606 rs1467056935 |
367 | A>T | No |
ClinGen gnomAD |
|
|
CA9213412 rs778492575 |
367 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q14576
6 regional properties for Q14576
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 39 - 117 | IPR000504-1 |
| domain | RNA recognition motif domain | 125 - 205 | IPR000504-2 |
| domain | RNA recognition motif domain | 284 - 362 | IPR000504-3 |
| domain | RNA recognition motif domain, eukaryote | 39 - 113 | IPR003954-1 |
| domain | RNA recognition motif domain, eukaryote | 285 - 358 | IPR003954-2 |
| domain | HuC, RNA recognition motif 3 | 283 - 367 | IPR034915 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA 3'-UTR AU-rich region binding | Binding to a region containing frequent adenine and uridine bases within the 3' untranslated region of a mRNA molecule or in pre-mRNA intron. The ARE-binding element consensus is UUAUUUAUU. ARE-binding proteins control the stability and/or translation of mRNAs. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P26378 | ELAVL4 | ELAV-like protein 4 | Homo sapiens (Human) | PR |
| Q12926 | ELAVL2 | ELAV-like protein 2 | Homo sapiens (Human) | PR |
| O75821 | EIF3G | Eukaryotic translation initiation factor 3 subunit G | Homo sapiens (Human) | PR |
| Q7TPD6 | Raver2 | Ribonucleoprotein PTB-binding 2 | Mus musculus (Mouse) | PR |
| Q60899 | Elavl2 | ELAV-like protein 2 | Mus musculus (Mouse) | PR |
| Q61701 | Elavl4 | ELAV-like protein 4 | Mus musculus (Mouse) | PR |
| Q60900 | Elavl3 | ELAV-like protein 3 | Mus musculus (Mouse) | PR |
| Q8CH84 | Elavl2 | ELAV-like protein 2 | Rattus norvegicus (Rat) | PR |
| O09032 | Elavl4 | ELAV-like protein 4 | Rattus norvegicus (Rat) | PR |
| Q28GD4 | elavl2 | ELAV-like protein 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4QNI8 | elavl4 | ELAV-like protein 4 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q28FX0 | elavl3 | ELAV-like protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVTQILGAME | SQVGGGPAGP | ALPNGPLLGT | NGATDDSKTN | LIVNYLPQNM | TQDEFKSLFG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SIGDIESCKL | VRDKITGQSL | GYGFVNYSDP | NDADKAINTL | NGLKLQTKTI | KVSYARPSSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SIRDANLYVS | GLPKTMSQKE | MEQLFSQYGR | IITSRILVDQ | VTGVSRGVGF | IRFDKRIEAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EAIKGLNGQK | PLGAAEPITV | KFANNPSQKT | GQALLTHLYQ | SSARRYAGPL | HHQTQRFRLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLLNMAYGVK | SPLSLIARFS | PIAIDGMSGL | AGVGLSGGAA | GAGWCIFVYN | LSPEADESVL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WQLFGPFGAV | TNVKVIRDFT | TNKCKGFGFV | TMTNYDEAAM | AIASLNGYRL | GERVLQVSFK |
| TSKQHKA |