Q9BZZ5
PR
Gene name |
API5 |
Protein name |
Apoptosis inhibitor 5 |
Names |
Sialic acid-binding Ig-like lectin 1, Siglec-1, API-5, Antiapoptosis clone 11 protein, AAC-11, Cell migration-inducing gene 8 protein, Fibroblast growth factor 2-interacting factor, FIF, Protein XAGL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8539 |
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
4 structures for Q9BZZ5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3U0R | X-ray | 250 A | A | 1-498 | PDB |
| 3V6A | X-ray | 260 A | A | 1-454 | PDB |
| 6L4O | X-ray | 260 A | A | 1-524 | PDB |
| AF-Q9BZZ5-F1 | Predicted | AlphaFoldDB |
241 variants for Q9BZZ5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA380147551 rs1367268402 |
2 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163919614 CA380147566 |
5 | E>K | No |
ClinGen gnomAD |
|
|
CA380147578 rs1335287459 |
6 | E>D | No |
ClinGen TOPMed |
|
|
rs964118461 CA221439945 |
9 | R>C | No |
ClinGen TOPMed |
|
|
CA5951174 rs768197633 |
9 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380147640 rs1388246114 |
16 | D>Y | No |
ClinGen gnomAD |
|
|
rs888280340 CA221439978 |
18 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1311287436 CA380147662 |
19 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750209391 CA5951178 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763017669 CA5951179 |
20 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380147671 rs1240270727 |
21 | V>M | No |
ClinGen gnomAD |
|
|
rs766372879 CA5951180 |
23 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5951205 rs757532643 |
26 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200771952 CA221446176 |
27 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1324660467 CA380148481 |
31 | I>M | No |
ClinGen gnomAD |
|
|
CA380148520 rs1306788760 |
34 | G>A | No |
ClinGen TOPMed |
|
|
rs750788233 CA5951207 |
34 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1508329 COSM1508330 rs35999189 CA221446183 |
38 | G>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs780378979 CA5951209 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5951210 rs747563359 |
39 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747563359 CA221446204 |
39 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780783169 CA5951212 COSM926871 COSM1585761 |
43 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 43 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769501251 CA5951214 |
49 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA380148728 rs1424181536 |
50 | P>L | No |
ClinGen TOPMed |
|
|
CA5951216 rs748944289 |
51 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221446258 rs909792066 |
58 | E>Q | No |
ClinGen TOPMed |
|
|
rs1164287551 CA380148928 |
65 | N>S | No |
ClinGen gnomAD |
|
|
rs759561318 CA5951219 |
68 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5951220 rs767320246 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770680039 CA5951235 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA221448033 COSM1585759 rs912340192 COSM926873 |
80 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs199828377 CA5951236 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5951239 rs775354048 |
85 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5951240 rs760644133 |
88 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221448063 rs947171838 |
88 | Q>L | No |
ClinGen TOPMed |
|
|
CA5951241 rs765346086 |
92 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773245544 CA5951242 |
95 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs540799644 CA5951243 |
98 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1590354598 CA380149674 |
100 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380149849 rs1161543377 |
112 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771148577 CA5951264 |
115 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1424472579 CA380149919 |
118 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 118 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452999215 CA380149913 |
118 | N>T | No |
ClinGen gnomAD |
|
|
CA380149932 rs1452106907 |
119 | N>K | No |
ClinGen gnomAD |
|
|
rs145077695 CA5951265 |
119 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199064222 CA380149926 |
119 | N>Y | No |
ClinGen gnomAD |
|
|
CA5951267 rs767821087 |
127 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221448636 rs911948073 |
129 | A>P | No |
ClinGen Ensembl |
|
|
rs955980100 CA221449168 |
140 | I>M | No |
ClinGen Ensembl |
|
|
rs759346425 COSM1353779 COSM50364 CA221449179 |
141 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1590356200 CA380150321 |
142 | Q>E | No |
ClinGen Ensembl |
|
|
CA5951283 rs759721191 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA380150549 rs1364477720 |
157 | T>A | No |
ClinGen gnomAD |
|
|
rs1203559837 CA380150558 |
157 | T>I | No |
ClinGen TOPMed |
|
|
rs1315518974 CA380150582 |
159 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA380150594 rs1341583986 |
159 | L>R | No |
ClinGen gnomAD |
|
|
rs76787103 CA221449189 |
160 | K>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5951286 rs761066169 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA380150647 rs761066169 |
163 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5951288 CA380150670 rs552791576 |
164 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5951287 rs764546443 |
164 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA380150687 rs1232489364 |
165 | E>D | No |
ClinGen TOPMed |
|
|
CA380151121 rs1351142546 |
166 | V>G | No |
ClinGen Ensembl |
|
|
rs1184245494 CA380151142 |
168 | T>K | No |
ClinGen gnomAD |
|
|
rs749907564 CA5951291 |
171 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5951293 rs765996368 |
175 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs894218311 CA221449234 |
175 | I>T | No |
ClinGen TOPMed |
|
|
rs1415333065 CA380151212 |
175 | I>V | No |
ClinGen gnomAD |
|
|
CA380151245 rs1388179883 |
178 | E>V | No |
ClinGen gnomAD |
|
|
CA5951295 rs754836256 |
180 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5951296 rs375559166 |
180 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380151276 rs1403576567 |
181 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380151422 rs1188107988 |
187 | T>I | No |
ClinGen TOPMed |
|
|
CA221450430 rs1804963 |
189 | E>Q | No |
ClinGen Ensembl |
|
|
rs752453501 CA5951316 |
194 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5951317 rs541112138 |
196 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777710503 CA5951318 |
197 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221450458 rs896311618 |
198 | L>V | No |
ClinGen Ensembl |
|
|
rs758561011 CA5951320 |
202 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380151629 rs1392614226 |
206 | T>I | No |
ClinGen gnomAD |
|
|
rs780256757 CA5951321 |
207 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747270288 CA5951322 |
210 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs768956427 CA5951323 |
213 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA380151715 rs1318145100 |
214 | V>A | No |
ClinGen TOPMed |
|
|
rs1209307543 CA380151727 |
215 | E>D | No |
ClinGen gnomAD |
|
|
CA221450509 rs763525132 |
217 | V>L | No |
ClinGen Ensembl |
|
|
rs748486932 CA5951325 |
222 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221450518 rs905209925 |
222 | D>H | No |
ClinGen TOPMed |
|
|
rs905209925 CA380151792 |
222 | D>N | No |
ClinGen TOPMed |
|
|
rs1300592051 CA380151803 |
223 | L>V | No |
ClinGen gnomAD |
|
|
rs770204897 CA5951326 |
225 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5951327 rs773834543 |
227 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5951328 rs369837996 |
228 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380151883 rs1305618095 |
230 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766370031 CA5951329 |
234 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380152013 rs1247558850 |
242 | T>S | No |
ClinGen gnomAD |
|
|
rs1488260741 CA380152021 |
243 | R>Q | No |
ClinGen gnomAD |
|
|
rs1286304647 CA380152018 |
243 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5951331 rs759218862 |
246 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA380152081 rs1249933103 |
249 | F>L | No |
ClinGen gnomAD |
|
|
CA5951358 rs765206937 |
254 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1284573374 CA380155798 |
254 | H>R | No |
ClinGen gnomAD |
|
|
CA221410063 rs919793707 |
256 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 261 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370568717 CA5951360 |
268 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781407287 CA5951361 |
269 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753013423 CA5951362 |
270 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778230801 CA5951365 COSM1146716 COSM688182 |
271 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778230801 CA5951364 |
271 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771445071 CA5951366 |
275 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380155936 rs1474471210 |
275 | T>I | No |
ClinGen TOPMed gnomAD |
|
| VAR_021519 | 276 | P>S | No | UniProt | |
|
rs779329758 CA221410086 |
279 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs779329758 CA5951367 |
279 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5951368 rs754789350 |
282 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1207770394 CA380156038 |
289 | L>V | No |
ClinGen gnomAD |
|
|
CA221410414 rs543630471 |
291 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA221410425 rs867440615 |
293 | M>T | No |
ClinGen Ensembl |
|
|
rs995256015 CA221410427 |
294 | S>N | No |
ClinGen Ensembl |
|
|
CA5951385 rs144200699 |
299 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5951387 rs5743240 VAR_021520 |
300 | M>V | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147759395 CA221410440 |
301 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1361519564 CA380156158 |
306 | N>Y | No |
ClinGen TOPMed |
|
|
CA380156165 rs1432727813 |
307 | L>V | No |
ClinGen gnomAD |
|
|
rs1472683404 CA380156179 |
309 | K>E | No |
ClinGen TOPMed |
|
|
CA5951390 rs746443788 |
313 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5951391 rs768358465 |
315 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA221410577 rs371353181 |
316 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA380156260 rs1210071792 |
318 | M>I | No |
ClinGen TOPMed |
|
|
rs200528483 CA221410578 |
322 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141137610 CA5951404 |
327 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293220609 CA380156323 |
328 | G>R | No |
ClinGen TOPMed |
|
|
TCGA novel rs895499410 CA221410579 |
329 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA5951405 rs750733077 |
329 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213851619 CA380156339 |
330 | N>S | No |
ClinGen gnomAD |
|
|
rs758955540 CA5951406 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA221410581 rs1012566540 |
332 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1012566540 CA380156352 |
332 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 335 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380156429 rs1427801178 |
343 | V>M | No |
ClinGen gnomAD |
|
|
rs780730102 CA5951410 |
348 | Y>H | No |
ClinGen ExAC |
|
|
rs1475666501 CA380156496 |
352 | Q>K | No |
ClinGen gnomAD |
|
|
CA380156504 rs1164553345 |
353 | L>M | No |
ClinGen gnomAD |
|
|
CA5951411 rs747841965 |
354 | G>S | No |
ClinGen ExAC |
|
|
rs1392548523 CA380156516 |
355 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM926879 CA5951412 COSM1585754 rs372123869 |
355 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 359 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201035525 CA5951414 |
363 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1315271949 CA380156579 |
364 | K>R | No |
ClinGen gnomAD |
|
|
rs1341381468 CA380156601 |
368 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1427805881 CA380156609 |
369 | K>* | No |
ClinGen Ensembl |
|
|
rs1233056111 CA380156612 |
369 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs140542517 CA5951417 |
370 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140542517 CA5951416 |
370 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590366104 CA380156631 |
372 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177935849 CA380156716 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1250060949 CA380156721 |
383 | G>S | No |
ClinGen gnomAD |
|
|
CA380156748 rs1444780108 |
387 | Y>C | No |
ClinGen Ensembl |
|
|
CA5951434 rs770691483 |
394 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172170734 CA380156809 |
396 | Q>R | No |
ClinGen gnomAD |
|
|
rs778751728 CA5951435 |
397 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA5951436 rs745837171 |
399 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5951437 rs771993736 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs192394283 CA5951439 |
405 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1389227313 CA380156865 |
405 | T>S | No |
ClinGen gnomAD |
|
|
rs773245514 CA5951462 |
412 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460513011 CA380156961 |
417 | I>V | No |
ClinGen gnomAD |
|
|
CA380156970 rs1565108761 |
418 | T>R | No |
ClinGen Ensembl |
|
|
CA221410956 rs760064239 |
421 | I>T | No |
ClinGen gnomAD |
|
|
CA221410960 rs764909580 |
422 | N>S | No |
ClinGen Ensembl |
|
|
rs1048028618 CA221412549 |
430 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377039218 CA5951480 |
432 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5951482 rs749331551 |
435 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749331551 CA5951481 |
435 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA380157118 rs1355096027 |
438 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5951484 rs746077186 |
439 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775969931 CA5951486 |
446 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs775969931 CA221412583 |
446 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs761299325 CA5951487 |
447 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380157185 rs1212257720 |
448 | K>N | No |
ClinGen TOPMed |
|
|
CA5951488 rs764634342 |
451 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5951507 rs748032182 |
453 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346250131 CA380157249 |
456 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778839124 CA5951509 |
458 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221412836 rs1056722959 |
459 | D>Y | No |
ClinGen Ensembl |
|
|
rs772388129 CA5951512 |
460 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772388129 CA5951511 |
460 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs564738470 CA221412845 |
461 | T>P | No |
ClinGen 1000Genomes |
|
|
CA380157282 rs1235756836 |
461 | T>S | No |
ClinGen gnomAD |
|
|
rs183344229 CA5951513 |
462 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5951514 rs768894583 |
463 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221412850 rs948608951 |
463 | G>S | No |
ClinGen gnomAD |
|
|
CA380157301 rs1269768944 |
465 | P>S | No |
ClinGen TOPMed |
|
|
rs994088627 CA221412862 |
469 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA380157330 rs994088627 |
469 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5951517 rs769384492 |
470 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5951519 rs762615418 |
471 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762615418 CA380157337 |
471 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs369005910 CA5951521 |
472 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376582287 CA380157342 CA5951520 |
472 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5951522 rs759394433 |
477 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396322802 CA380157485 |
492 | L>V | No |
ClinGen gnomAD |
|
|
rs2862934 VAR_021521 CA221412881 |
493 | G>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA221412884 rs952408014 |
494 | N>K | No |
ClinGen TOPMed |
|
|
rs1000291477 CA221412890 |
495 | F>L | No |
ClinGen Ensembl |
|
|
CA5951525 rs755976966 |
497 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307038700 CA380157661 |
500 | R>K | No |
ClinGen gnomAD |
|
|
rs778319466 CA5951554 |
502 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380157697 rs897977894 |
504 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA221417628 rs897977894 |
504 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5951556 rs770478327 |
505 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374457536 CA5951557 |
508 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745568127 CA5951558 |
510 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA380157743 rs1232752914 |
511 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 512 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380157758 rs1481710518 |
513 | G>D | No |
ClinGen gnomAD |
|
|
CA380157767 rs1565116226 |
515 | R>G | No |
ClinGen Ensembl |
|
|
rs1437894422 CA380157779 |
517 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA380157778 rs1437894422 |
517 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs775372246 COSM542614 CA5951561 |
518 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760450579 CA5951562 |
518 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319520609 CA380157800 |
520 | R>Q | No |
ClinGen TOPMed |
|
|
rs1386427351 CA380157803 |
521 | G>R | No |
ClinGen TOPMed |
|
|
CA380157828 rs1357100507 |
524 | Y>* | No |
ClinGen gnomAD |
|
|
rs1479868638 CA380157826 |
524 | Y>C | No |
ClinGen TOPMed |
|
|
rs776755695 CA380157833 |
525 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q9BZZ5
[MIM: 137750]: Glaucoma 1, open angle, A (GLC1A)
A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 231300]: Glaucoma 3, primary congenital, A (GLC3A)
An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.
Without disease ID
- A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| fibroblast growth factor binding | Binding to a fibroblast growth factor. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| fibroblast apoptotic process | Any apoptotic process in a fibroblast, a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. |
| localization | Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of fibroblast apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of fibroblast apoptotic process. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O35841 | Api5 | Apoptosis inhibitor 5 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPTVEELYRN | YGILADATEQ | VGQHKDAYQV | ILDGVKGGTK | EKRLAAQFIP | KFFKHFPELA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DSAINAQLDL | CEDEDVSIRR | QAIKELPQFA | TGENLPRVAD | ILTQLLQTDD | SAEFNLVNNA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLSIFKMDAK | GTLGGLFSQI | LQGEDIVRER | AIKFLSTKLK | TLPDEVLTKE | VEELILTESK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KVLEDVTGEE | FVLFMKILSG | LKSLQTVSGR | QQLVELVAEQ | ADLEQTFNPS | DPDCVDRLLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CTRQAVPLFS | KNVHSTRFVT | YFCEQVLPNL | GTLTTPVEGL | DIQLEVLKLL | AEMSSFCGDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKLETNLRKL | FDKLLEYMPL | PPEEAENGEN | AGNEEPKLQF | SYVECLLYSF | HQLGRKLPDF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LTAKLNAEKL | KDFKIRLQYF | ARGLQVYIRQ | LRLALQGKTG | EALKTEENKI | KVVALKITNN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| INVLIKDLFH | IPPSYKSTVT | LSWKPVQKVE | IGQKRASEDT | TSGSPPKKSS | AGPKRDARQI |
| 490 | 500 | 510 | 520 | ||
| YNPPSGKYSS | NLGNFNYEQR | GAFRGSRGGR | GWGTRGNRSR | GRLY |