Q96EP5
Gene name |
DAZAP1 |
Protein name |
DAZ-associated protein 1 |
Names |
Deleted in azoospermia-associated protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26528 |
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
3 structures for Q96EP5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DGS | NMR | - | A | 110-195 | PDB |
| 2DH8 | NMR | - | A | 1-92 | PDB |
| AF-Q96EP5-F1 | Predicted | AlphaFoldDB |
233 variants for Q96EP5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA403000603 rs1278085566 |
3 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403000602 rs1278085566 |
3 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403000648 rs1312777686 |
6 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1326048078 CA403004029 |
15 | G>D | No |
ClinGen gnomAD |
|
|
rs1296622906 CA403004023 |
15 | G>S | No |
ClinGen gnomAD |
|
|
CA403004034 rs1267292068 |
16 | G>S | No |
ClinGen gnomAD |
|
|
CA9043831 rs761599602 |
21 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403004088 rs1489501000 |
22 | T>I | No |
ClinGen gnomAD |
|
|
CA9043833 rs773000130 |
23 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA403004228 rs1600206214 |
25 | T>P | No |
ClinGen Ensembl |
|
|
CA9043859 rs368197335 |
27 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1240638676 CA403004259 |
27 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752719171 CA9043861 |
28 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1235856442 CA403004333 |
31 | S>T | No |
ClinGen gnomAD |
|
|
rs1302285322 CA403004351 |
32 | Q>L | No |
ClinGen TOPMed |
|
|
CA403004405 rs1323803153 |
34 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240743442 CA403004462 |
37 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372209912 CA403004548 |
41 | I>T | No |
ClinGen TOPMed |
|
|
rs1600206407 CA403004634 |
46 | T>P | No |
ClinGen Ensembl |
|
|
rs1600206431 CA403004640 |
47 | T>P | No |
ClinGen Ensembl |
|
|
CA403004658 rs1249700533 |
48 | N>Y | No |
ClinGen gnomAD |
|
|
rs1384268663 CA403004690 |
49 | Q>* | No |
ClinGen TOPMed |
|
|
CA9043867 rs750851047 |
56 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758927237 CA9043868 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9043869 rs780708595 |
66 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777459141 CA403005107 |
70 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9043873 rs748929332 |
72 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774079955 CA304078818 |
74 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9043876 rs745673464 |
74 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs774079955 CA9043875 |
74 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304078829 rs935685963 |
76 | D>G | No |
ClinGen Ensembl |
|
|
rs1600207881 CA403005894 |
81 | D>A | No |
ClinGen Ensembl |
|
|
CA403005927 rs1193479653 |
83 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475857939 CA403006020 |
88 | R>Q | No |
ClinGen gnomAD |
|
|
CA304079078 rs773612058 |
88 | R>W | No |
ClinGen Ensembl |
|
|
CA304079083 rs991255414 |
90 | M>T | No |
ClinGen gnomAD |
|
|
CA304079086 rs763269732 |
92 | P>A | No |
ClinGen Ensembl |
|
|
CA304079099 rs1049487545 |
96 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1049487545 CA403006174 |
96 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA304079092 rs930713428 |
96 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1346096647 CA403006194 |
97 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403006214 rs1163102790 |
98 | K>N | No |
ClinGen gnomAD |
|
|
rs1488685450 CA403006241 |
100 | G>A | No |
ClinGen TOPMed |
|
|
rs1386250087 CA403006249 |
101 | W>R | No |
ClinGen gnomAD |
|
|
CA304080151 rs113263508 |
102 | Q>R | No |
ClinGen Ensembl |
|
|
rs1283734946 CA403006660 |
105 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9043940 rs182022415 |
105 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403006668 rs1352373272 |
106 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9043941 rs770991534 COSM3822099 COSM3822100 |
107 | S>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774699256 CA9043942 |
108 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403006754 rs1205243811 |
113 | N>S | No |
ClinGen gnomAD |
|
|
rs955123954 CA304080174 |
115 | I>V | No |
ClinGen gnomAD |
|
|
rs1224384342 CA403006798 |
117 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403006959 rs1380340063 |
128 | E>Q | No |
ClinGen TOPMed |
|
|
rs762457266 CA304080194 |
130 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA304080197 rs779392373 |
131 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9043950 rs368843907 |
132 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9043978 rs758592245 |
140 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9043979 rs758592245 |
140 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403007370 rs1358826709 |
141 | E>A | No |
ClinGen TOPMed |
|
|
rs747372596 CA9043980 |
142 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366532562 CA403007427 |
144 | M>T | No |
ClinGen gnomAD |
|
|
CA403007463 rs1159417566 |
146 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403007613 rs1167872668 |
153 | P>L | No |
ClinGen TOPMed |
|
|
CA403008855 rs1184516612 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 161 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376010326 CA403008886 |
164 | E>Q | No |
ClinGen gnomAD |
|
|
rs1392403576 CA403009160 |
177 | D>E | No |
ClinGen gnomAD |
|
|
CA403010753 rs1391913051 |
183 | V>M | No |
ClinGen gnomAD |
|
| rs1348955326 | 183 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201334139 CA9044022 |
187 | R>Q | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 192 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189634555 CA403010864 |
193 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768360132 CA9044024 |
193 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9044025 rs776217313 |
195 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769528419 CA9044027 |
197 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9044029 rs147255663 |
198 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403010974 rs1291394568 |
200 | Q>H | No |
ClinGen gnomAD |
|
|
CA9044031 rs751568758 |
200 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296863227 CA403010999 |
203 | A>T | No |
ClinGen gnomAD |
|
|
rs767767105 CA9044033 |
204 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1244029620 CA403011113 |
209 | R>Q | No |
ClinGen gnomAD |
|
|
rs1442913211 CA403011129 |
210 | V>L | No |
ClinGen TOPMed |
|
|
rs1187988208 CA403011175 |
212 | P>H | No |
ClinGen gnomAD |
|
|
CA403011206 rs1362926191 |
213 | N>S | No |
ClinGen TOPMed |
|
|
CA403011205 rs1362926191 |
213 | N>T | No |
ClinGen TOPMed |
|
|
CA9044037 rs764326962 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9044039 rs754279474 |
215 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9044038 rs754279474 |
215 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1413548459 CA403011341 |
219 | A>G | No |
ClinGen gnomAD |
|
|
CA403011331 rs1430738393 |
219 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | G>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9044040 rs779568681 |
221 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403011401 rs1257825790 |
222 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780878926 CA9044043 |
231 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403011643 rs1362325253 |
232 | P>L | No |
ClinGen gnomAD |
|
|
rs904656394 CA304084180 CA403011920 |
235 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs560959775 CA9044063 |
237 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868844434 CA304084188 |
238 | P>Q | No |
ClinGen Ensembl |
|
|
CA403011960 rs1391055650 |
239 | A>T | No |
ClinGen Ensembl |
|
|
CA304084192 rs865991123 |
239 | A>V | No |
ClinGen Ensembl |
|
|
rs111898452 CA304084195 |
241 | Q>L | No |
ClinGen Ensembl |
|
|
rs867530986 CA304084197 |
242 | A>T | No |
ClinGen gnomAD |
|
|
CA304084295 rs1053723670 |
248 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs762090292 CA403012125 |
249 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762090292 CA9044093 |
249 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9044095 rs201791219 |
250 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA304084301 rs1014051192 |
251 | A>G | No |
ClinGen Ensembl |
|
|
CA403012143 rs1448808794 |
251 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1370012067 CA403012188 |
255 | A>G | No |
ClinGen gnomAD |
|
|
rs763439258 CA9044096 |
255 | A>P | No |
ClinGen ExAC |
|
|
CA403012229 rs1354172330 |
259 | P>S | No |
ClinGen TOPMed |
|
|
CA403012259 rs1433552979 |
262 | F>L | No |
ClinGen gnomAD |
|
|
CA403012267 rs1317724301 |
262 | F>L | No |
ClinGen gnomAD |
|
|
rs1341481959 CA403012270 |
263 | T>P | No |
ClinGen gnomAD |
|
|
CA403012280 rs1244485736 |
264 | S>P | No |
ClinGen gnomAD |
|
|
rs1294542593 CA403012297 |
265 | Y>F | No |
ClinGen gnomAD |
|
|
CA9044106 rs758272496 |
267 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768468657 CA304084315 |
269 | T>A | No |
ClinGen Ensembl |
|
|
CA403012337 rs768468657 |
269 | T>P | No |
ClinGen Ensembl |
|
|
rs768749833 CA9044109 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1459032743 CA403012370 |
272 | G>E | No |
ClinGen gnomAD |
|
|
rs1160115630 CA403012388 |
274 | F>Y | No |
ClinGen gnomAD |
|
|
rs1317228854 CA403012409 |
276 | P>A | No |
ClinGen TOPMed |
|
|
rs1261374231 CA403012425 |
277 | P>S | No |
ClinGen gnomAD |
|
|
rs1455677997 CA403012441 |
278 | Q>H | No |
ClinGen gnomAD |
|
|
CA403012438 rs1419440873 |
278 | Q>P | No |
ClinGen TOPMed |
|
|
rs866261904 CA304084322 |
279 | G>D | No |
ClinGen Ensembl |
|
|
rs773538201 CA9044113 |
281 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9044115 rs771366198 |
285 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA304084329 rs774609661 |
286 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774609661 CA9044116 |
286 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288556949 CA403012527 |
286 | A>V | No |
ClinGen gnomAD |
|
|
CA403012530 rs1600243027 |
287 | P>A | No |
ClinGen Ensembl |
|
|
CA403012534 rs1191774075 |
287 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600243064 CA403012576 |
291 | S>R | No |
ClinGen Ensembl |
|
|
rs1254478612 CA402991333 |
297 | P>L | No |
ClinGen TOPMed |
|
|
rs1220890071 CA402991373 |
300 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292507790 CA402991394 |
301 | P>S | No |
ClinGen TOPMed |
|
|
rs777859354 CA9044147 |
305 | A>P | No |
ClinGen ExAC |
|
|
CA304035024 rs923109298 |
305 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749340249 CA9044148 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9044151 rs779070387 |
307 | P>R | No |
ClinGen ExAC |
|
| TCGA novel | 308 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772476004 CA9044153 |
308 | G>V | No |
ClinGen ExAC |
|
|
CA9044159 rs772724843 |
309 | V>A | No |
ClinGen ExAC |
|
|
rs747477381 CA9044155 |
309 | V>F | No |
ClinGen ExAC |
|
|
rs772724843 CA9044158 |
309 | V>G | No |
ClinGen ExAC |
|
|
CA9044156 rs747477381 |
309 | V>L | No |
ClinGen ExAC |
|
|
rs759372390 CA9044164 |
310 | P>H | No |
ClinGen ExAC |
|
|
CA9044163 rs759372390 |
310 | P>L | No |
ClinGen ExAC |
|
|
rs774194439 CA9044162 |
310 | P>T | No |
ClinGen ExAC |
|
|
rs753948721 CA9044169 |
311 | P>H | No |
ClinGen ExAC |
|
|
CA9044167 rs763942136 |
311 | P>T | No |
ClinGen ExAC |
|
|
rs758652744 CA9044174 |
313 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs747391193 CA9044176 |
314 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA304035211 rs1052863481 |
315 | T>I | No |
ClinGen TOPMed |
|
|
rs892929597 CA304035222 |
317 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402991626 CA402991627 rs1249902268 |
317 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA402991706 rs371012185 |
321 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1461918261 CA402991799 |
325 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 326 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774027015 CA9044181 |
327 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1011274814 CA304035238 |
327 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9044183 rs759213360 |
331 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759213360 CA9044182 |
331 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304035247 rs991034824 |
331 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402991921 rs1296747010 |
332 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402991973 rs1290945343 |
334 | M>I | No |
ClinGen gnomAD |
|
|
CA304035298 rs377589620 |
335 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs753770419 CA9044187 |
337 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1484921450 CA402992042 |
337 | P>L | No |
ClinGen TOPMed |
|
|
rs951868964 CA304035310 |
338 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304035312 rs1003556228 |
340 | A>S | No |
ClinGen TOPMed |
|
|
rs1600251279 CA402993127 |
342 | P>T | No |
ClinGen Ensembl |
|
|
CA9044188 rs761923627 |
343 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA402993243 rs765264209 |
344 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750527274 CA9044190 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9044192 rs140947604 |
346 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402993313 rs140947604 |
346 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9044193 rs751903558 |
347 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1303283530 CA402993372 |
348 | Q>R | No |
ClinGen TOPMed |
|
|
CA304035385 rs1035918356 |
349 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 355 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9044278 rs757115270 |
357 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs778693980 CA9044279 |
357 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575023279 CA9044281 |
365 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402996006 rs1332109246 |
366 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9044283 rs747096439 |
367 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA402996090 rs1569110818 |
369 | Q>H | No |
ClinGen Ensembl |
|
|
rs768983183 CA9044284 |
370 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402996111 rs1258051031 |
371 | P>S | No |
ClinGen gnomAD |
|
|
CA402996175 rs1187560518 |
374 | G>R | No |
ClinGen gnomAD |
|
|
rs143612423 CA9044287 |
375 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143612423 CA9044288 |
375 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143612423 CA304038618 |
375 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160001818 CA402996244 |
376 | P>L | No |
ClinGen gnomAD |
|
|
CA9044289 rs763453549 |
376 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402996270 rs1452285153 |
378 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA402996364 rs1403419395 |
381 | S>P | No |
ClinGen TOPMed gnomAD |
|
| VAR_035480 | 381 | S>T | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA9044292 rs774970292 |
381 | S>W | No |
ClinGen ExAC |
|
|
rs760246859 CA9044294 |
383 | G>A | No |
ClinGen ExAC |
|
|
rs753539347 CA9044296 |
384 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402996480 rs1276498850 |
385 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765040815 CA9044299 COSM336548 |
386 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765040815 CA304038661 |
386 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9044302 rs780195006 |
387 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202235252 CA9044304 |
388 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748366219 CA9044306 |
390 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA304038695 rs995186631 |
390 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9044308 rs773570832 |
392 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA402996729 rs773570832 |
392 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1178944320 CA402996759 |
393 | R>Q | No |
ClinGen gnomAD |
|
|
CA402996958 rs1372750641 |
399 | V>A | No |
ClinGen gnomAD |
|
|
rs1411315122 CA402997056 |
404 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000208559 CA352146 rs869025246 |
405 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
No associated diseases with Q96EP5
4 regional properties for Q96EP5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 10 - 97 | IPR000504-1 |
| domain | RNA recognition motif domain | 113 - 190 | IPR000504-2 |
| domain | DAZ-associated protein 1, RNA recognition motif 2 | 111 - 190 | IPR034131 |
| domain | DAZ-associated protein 1, RNA recognition motif 1 | 11 - 92 | IPR034134 |
Functions
7 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. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| poly(G) binding | Binding to a sequence of guanine residues in an RNA molecule. |
| poly(U) RNA binding | Binding to a sequence of uracil residues in an RNA molecule. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA stem-loop binding | Binding to a stem-loop in an RNA molecule. An RNA stem-loop is a secondary RNA structure consisting of a double-stranded RNA (dsRNA) stem and a terminal loop. |
5 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. |
| fibroblast proliferation | The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population. |
| maternal placenta development | Maternally driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
| positive regulation of mRNA splicing, via spliceosome | Any process that activates or increases the rate or extent of mRNA splicing via a spliceosomal mechanism. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9JII5 | Dazap1 | DAZ-associated protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNNSGADEIG | KLFVGGLDWS | TTQETLRSYF | SQYGEVVDCV | IMKDKTTNQS | RGFGFVKFKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNCVGTVLAS | RPHTLDGRNI | DPKPCTPRGM | QPERTRPKEG | WQKGPRSDNS | KSNKIFVGGI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PHNCGETELR | EYFKKFGVVT | EVVMIYDAEK | QRPRGFGFIT | FEDEQSVDQA | VNMHFHDIMG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKVEVKRAEP | RDSKSQAPGQ | PGASQWGSRV | VPNAANGWAG | QPPPTWQQGY | GPQGMWVPAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QAIGGYGPPP | AGRGAPPPPP | PFTSYIVSTP | PGGFPPPQGF | PQGYGAPPQF | SFGYGPPPPP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PDQFAPPGVP | PPPATPGAAP | LAFPPPPSQA | APDMSKPPTA | QPDFPYGQYA | GYGQDLSGFG |
| 370 | 380 | 390 | 400 | ||
| QGFSDPSQQP | PSYGGPSVPG | SGGPPAGGSG | FGRGQNHNVQ | GFHPYRR |