Q99504
PR
Gene name |
EYA3 |
Protein name |
Eyes absent homolog 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2140 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
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 Q99504
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99504-F1 | Predicted | AlphaFoldDB |
337 variants for Q99504
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs752852582 CA719613 |
3 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339717610 rs1424988799 |
3 | E>K | No |
ClinGen gnomAD |
|
|
CA719612 rs767652578 |
8 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA719611 rs755261774 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719592 rs781423829 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868706652 CA19968517 |
15 | A>V | No |
ClinGen Ensembl |
|
|
rs1206937798 CA339500050 |
16 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1206937798 CA339500051 |
16 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA719591 rs755177923 |
17 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA19968516 rs767530181 |
17 | M>R | No |
ClinGen Ensembl |
|
|
CA719590 rs374097479 |
18 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150741524 CA719589 |
19 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571892805 CA339499912 |
21 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 24 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339499780 rs1362583241 |
25 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1362583241 CA339499783 |
25 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA19968507 rs111830914 |
26 | S>G | No |
ClinGen Ensembl |
|
|
CA719568 rs148611688 |
27 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557606910 CA339499235 |
27 | Q>R | No |
ClinGen Ensembl |
|
|
CA339499205 rs1400014970 |
29 | S>N | No |
ClinGen gnomAD |
|
|
rs571957606 CA719567 |
30 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA19966195 rs1039488963 |
32 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA19966194 rs759506174 |
33 | V>D | No |
ClinGen Ensembl |
|
|
rs1440736484 CA339499162 |
33 | V>I | No |
ClinGen gnomAD |
|
|
rs1463582273 CA339499149 |
34 | S>R | No |
ClinGen gnomAD |
|
|
CA339499137 rs1461123823 |
35 | D>N | No |
ClinGen TOPMed |
|
|
CA339499088 rs149459415 |
38 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149459415 CA719565 |
38 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757674168 CA719564 |
39 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764625502 CA719562 |
42 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339499031 rs1361519342 |
42 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756604420 CA719561 |
44 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719560 rs752166567 |
44 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1338240064 CA339498988 |
46 | N>K | No |
ClinGen gnomAD |
|
|
rs1200176592 CA339498984 |
47 | L>V | No |
ClinGen TOPMed |
|
|
rs766990752 CA719559 |
49 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391680076 CA339498924 |
51 | E>D | No |
ClinGen gnomAD |
|
|
CA719536 rs773168402 |
54 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA719535 rs765028311 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA339498356 rs1197887878 |
56 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1571868669 CA339498340 |
57 | T>S | No |
ClinGen Ensembl |
|
|
CA719531 rs745996850 |
58 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs774370160 CA719530 |
61 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201957219 CA719529 |
62 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339498280 rs1274692706 |
62 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339498282 rs201957219 |
62 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749454479 CA719528 |
63 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA339498267 rs1328713667 |
63 | S>L | No |
ClinGen gnomAD |
|
|
CA339498254 rs1434983546 |
65 | N>D | No |
ClinGen gnomAD |
|
|
rs371072200 CA719526 |
65 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371072200 CA339498248 |
65 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339498243 rs1178670689 |
66 | D>N | No |
ClinGen gnomAD |
|
|
CA339498223 rs1424650571 |
68 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA719504 rs748587120 |
76 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19962458 rs267598538 |
76 | P>T | No |
ClinGen Ensembl |
|
|
rs1157876109 CA339497950 |
77 | Y>F | No |
ClinGen TOPMed |
|
|
CA719503 rs781372228 |
77 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1444724901 CA339497946 |
78 | A>T | No |
ClinGen gnomAD |
|
|
rs531497191 CA19962436 |
79 | H>D | No |
ClinGen gnomAD |
|
|
COSM3789848 rs1368664923 CA339497918 COSM3789849 |
82 | S>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377309843 CA19962420 |
84 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1179593805 CA339497899 |
85 | V>A | No |
ClinGen gnomAD |
|
|
CA339497903 rs1412528045 |
85 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1205882 CA719502 rs769229164 |
86 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs76119715 CA19962389 |
90 | Y>F | No |
ClinGen Ensembl |
|
|
CA719501 rs747464521 |
93 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA339497801 rs1482247708 |
94 | T>S | No |
ClinGen gnomAD |
|
|
CA19962384 rs879232183 |
95 | Q>R | No |
ClinGen Ensembl |
|
|
rs1571860894 CA339497783 |
96 | Y>S | No |
ClinGen Ensembl |
|
|
rs1223002778 CA339497760 |
98 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758052574 CA719499 |
99 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs904634001 CA19962353 |
101 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs904634001 CA339497735 |
101 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339497728 rs1196239602 |
102 | T>S | No |
ClinGen gnomAD |
|
|
rs756817078 CA719496 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA719494 rs763734942 |
107 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA719495 rs753685859 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401895981 CA339497664 |
108 | Y>C | No |
ClinGen gnomAD |
|
|
rs752697098 CA719492 |
111 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA339497625 rs1181068880 |
112 | T>S | No |
ClinGen gnomAD |
|
|
rs143637921 CA719491 |
114 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190278796 CA719490 |
114 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339497599 rs1245424756 |
115 | Y>C | No |
ClinGen gnomAD |
|
|
CA719464 rs761172523 |
123 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA339496626 rs775955336 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719463 rs775955336 |
126 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339496609 rs1168341928 |
127 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746298850 CA719461 |
127 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465213819 CA339496598 |
128 | K>T | No |
ClinGen gnomAD |
|
|
CA19958635 rs369688098 |
130 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA19958638 rs369688098 |
130 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1357828741 CA339496563 |
131 | S>G | No |
ClinGen gnomAD |
|
|
rs764723532 CA19958632 |
135 | Q>H | No |
ClinGen Ensembl |
|
|
CA339496486 rs1160673675 |
137 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339496474 rs1571841195 |
138 | S>T | No |
ClinGen Ensembl |
|
|
rs748817789 CA719458 |
141 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777449803 CA719457 |
143 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA719456 rs755730284 |
145 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339496366 rs1571841094 |
146 | T>P | No |
ClinGen Ensembl |
|
|
CA719454 rs759089887 |
147 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs200480089 CA719453 |
148 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339496317 rs1206961866 |
150 | G>R | No |
ClinGen gnomAD |
|
|
rs766340505 CA719451 |
153 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1341798011 CA339496204 |
158 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339496143 rs1312772813 |
161 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs536399694 CA19958590 |
162 | S>F | No |
ClinGen 1000Genomes |
|
| TCGA novel | 162 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761554106 CA719449 |
163 | Y>* | No |
ClinGen ExAC |
|
|
rs757343340 CA719450 |
163 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA719447 rs147951292 |
164 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339496038 rs1291936796 |
166 | Q>R | No |
ClinGen TOPMed |
|
|
rs777939793 CA719428 |
168 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA339495323 rs1162745941 |
171 | N>D | No |
ClinGen gnomAD |
|
|
CA19951532 rs928428051 |
171 | N>S | No |
ClinGen TOPMed |
|
|
rs1456424686 CA339495312 |
172 | A>G | No |
ClinGen gnomAD |
|
|
rs756405708 CA719427 |
175 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750864945 CA719426 |
176 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472369306 COSM680127 CA339495262 |
176 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750864945 CA719425 |
176 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719424 rs372082681 |
177 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA719423 rs751918392 |
177 | T>N | No |
ClinGen ExAC TOPMed |
|
|
CA339495258 rs372082681 |
177 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751918392 CA339495253 |
177 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs766825436 CA719422 |
180 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1179735231 CA339495211 |
181 | I>L | No |
ClinGen gnomAD |
|
|
CA719419 rs142531107 |
183 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs990030650 CA19951438 |
186 | A>V | No |
ClinGen Ensembl |
|
|
rs769226904 CA719418 |
187 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958032006 CA19951432 |
189 | V>I | No |
ClinGen Ensembl |
|
|
rs1353704535 CA339495091 |
190 | A>V | No |
ClinGen gnomAD |
|
|
rs1269441359 CA339495045 |
194 | N>D | No |
ClinGen gnomAD |
|
|
CA719416 rs761309601 |
194 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719415 rs150037373 |
195 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA339494907 rs1377965827 |
198 | P>T | No |
ClinGen gnomAD |
|
|
CA339494902 rs1557567631 |
199 | T>A | No |
ClinGen Ensembl |
|
|
CA339494897 rs1198120963 |
199 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339494892 rs1249408794 |
200 | Y>C | No |
ClinGen gnomAD |
|
|
CA719405 rs781307029 |
201 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA339494880 rs1221320359 |
202 | I>T | No |
ClinGen gnomAD |
|
|
rs755186429 CA719404 |
202 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274598216 COSM907952 CA339494869 |
204 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA19948815 rs535230823 |
204 | G>S | No |
ClinGen Ensembl |
|
|
CA339494857 rs1243467660 |
205 | Q>R | No |
ClinGen gnomAD |
|
|
rs1367960963 CA339494831 |
207 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766710509 CA719402 |
209 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1336454292 CA339494742 |
213 | P>H | No |
ClinGen gnomAD |
|
|
CA339494746 rs1386755315 |
213 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1415225104 CA339494728 |
214 | S>I | No |
ClinGen gnomAD |
|
|
rs1402725224 CA339494697 |
216 | S>R | No |
ClinGen gnomAD |
|
|
CA719401 rs377265369 |
218 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 220 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150960971 CA719400 |
220 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397676419 CA339494641 |
221 | G>D | No |
ClinGen TOPMed |
|
|
rs1391863711 CA339494646 |
221 | G>S | No |
ClinGen gnomAD |
|
|
CA339494629 rs1571798227 |
222 | Q>R | No |
ClinGen Ensembl |
|
|
rs765723016 CA719399 |
223 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1448302405 CA339494612 |
223 | T>I | No |
ClinGen gnomAD |
|
|
CA339494578 rs1239843617 |
226 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA719398 rs761366857 |
228 | E>K | No |
ClinGen ExAC |
|
|
rs776090974 CA719397 |
229 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1313821288 CA339494505 |
231 | T>A | No |
ClinGen TOPMed |
|
|
rs760314826 CA719395 |
235 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1199035047 CA339494456 |
236 | T>K | No |
ClinGen gnomAD |
|
|
rs371084495 COSM3977557 COSM3977558 CA719394 |
239 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA719392 rs745641824 |
241 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA19948715 rs982464396 |
242 | P>S | No |
ClinGen TOPMed |
|
|
CA339494417 rs982464396 |
242 | P>T | No |
ClinGen TOPMed |
|
|
CA719391 rs774477501 |
243 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339494405 rs1333265797 |
244 | V>I | No |
ClinGen gnomAD |
|
|
CA719390 rs139121002 |
245 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377712651 CA19948709 |
245 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs199531017 CA339494389 |
246 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA719389 rs199531017 |
246 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781041381 CA19948657 |
248 | A>V | No |
ClinGen Ensembl |
|
|
CA19948655 rs956093658 |
249 | P>L | No |
ClinGen Ensembl |
|
|
CA339494374 rs1557566808 |
249 | P>S | No |
ClinGen Ensembl |
|
|
CA19948653 rs1030432643 |
251 | A>T | No |
ClinGen Ensembl |
|
|
CA339494354 rs1428998642 |
252 | Q>H | No |
ClinGen gnomAD |
|
|
CA719386 rs964909906 |
255 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA19948652 rs976224764 |
255 | S>T | No |
ClinGen Ensembl |
|
|
CA719370 rs769248577 |
258 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339493927 rs1387542141 |
258 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339493862 rs1238828675 |
265 | L>V | No |
ClinGen TOPMed |
|
|
CA19947406 rs369322819 |
270 | P>A | No |
ClinGen gnomAD |
|
|
rs555561332 CA719365 |
270 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA719364 rs776579666 |
272 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719362 rs376271031 |
274 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288205364 CA339493779 |
277 | Q>* | No |
ClinGen gnomAD |
|
|
CA339493767 rs1348861815 |
279 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19947358 rs574158525 |
282 | M>R | No |
ClinGen gnomAD |
|
|
rs1458497523 CA339493743 |
282 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA719360 rs758591434 |
283 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM680128 CA719358 rs779202966 |
285 | K>N | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA719357 rs368411818 |
287 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19947300 rs985347978 |
287 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA719356 rs368411818 |
287 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA719355 rs764490533 |
289 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755695842 CA719354 |
290 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1465519354 CA339493679 |
292 | A>P | No |
ClinGen gnomAD |
|
|
CA719352 rs767309036 |
292 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1214838176 CA339493670 |
293 | D>G | No |
ClinGen gnomAD |
|
|
rs376217821 CA719351 |
298 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339493631 rs141894644 |
299 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs141894644 CA19947251 |
299 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA719350 rs143988059 |
301 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19942319 rs1025371741 |
304 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339493580 COSM907951 rs778381640 |
304 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171095382 CA339493570 |
306 | F>I | No |
ClinGen gnomAD |
|
|
CA719337 rs183107195 |
306 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780790292 CA719335 |
314 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719333 rs751323993 |
315 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs561398055 CA719332 |
316 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339493499 rs1485249532 |
316 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs995017738 CA19942262 |
321 | L>I | No |
ClinGen Ensembl |
|
|
CA19942253 rs898043943 |
322 | T>S | No |
ClinGen Ensembl |
|
|
CA339493439 rs1219963617 |
325 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339493424 rs138195016 |
327 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388997980 CA339493378 |
332 | D>Y | No |
ClinGen gnomAD |
|
|
CA339493371 rs1391630070 |
333 | P>T | No |
ClinGen gnomAD |
|
|
CA719313 rs779894304 |
334 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339493357 rs1230366094 |
335 | V>A | No |
ClinGen gnomAD |
|
|
CA339493354 rs1414378637 |
336 | V>L | No |
ClinGen gnomAD |
|
|
rs757950928 CA719312 |
337 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339493340 rs750256943 |
338 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750256943 CA719311 |
338 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19938662 rs35699784 |
340 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339493275 rs1206162278 |
347 | I>T | No |
ClinGen TOPMed |
|
|
CA339493263 rs1342537291 |
349 | E>Q | No |
ClinGen TOPMed |
|
|
rs1362990630 CA339493233 |
353 | T>S | No |
ClinGen gnomAD |
|
|
rs148584287 CA719310 |
358 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339493160 rs1374926235 |
362 | E>K | No |
ClinGen TOPMed |
|
|
CA339493140 rs1384064287 |
364 | D>G | No |
ClinGen gnomAD |
|
|
rs560671858 CA719297 |
365 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1395563228 CA339493129 |
366 | V>I | No |
ClinGen gnomAD |
|
|
CA719296 rs746552493 |
369 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758086633 CA719294 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758086633 CA339493094 |
371 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778610813 CA719292 |
373 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719290 rs753597117 |
376 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753597117 CA719291 |
376 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA719289 rs764046783 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA339493047 rs1346366316 |
378 | Q>R | No |
ClinGen gnomAD |
|
|
CA719288 rs755994642 |
381 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA339493005 rs1425990470 |
382 | N>S | No |
ClinGen TOPMed |
|
|
rs756047687 CA719270 |
383 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781175828 CA719268 |
384 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339492959 rs1162251384 |
389 | G>S | No |
ClinGen TOPMed |
|
|
CA339492934 rs1312031742 |
392 | G>D | No |
ClinGen gnomAD |
|
|
rs1030969195 CA19935237 |
394 | G>* | No |
ClinGen TOPMed |
|
|
rs1372261115 CA339492913 |
396 | S>G | No |
ClinGen gnomAD |
|
|
rs917887197 CA19935233 |
396 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs999390796 CA19935229 |
397 | G>R | No |
ClinGen TOPMed |
|
|
CA719265 rs765409756 |
398 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437621065 CA339492894 |
399 | H>N | No |
ClinGen TOPMed |
|
|
rs762081762 CA719264 |
399 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA339492892 rs762081762 |
399 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA719263 rs530106628 |
400 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224145437 CA339492872 |
402 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339492876 rs1164680644 |
402 | S>P | No |
ClinGen gnomAD |
|
|
rs772596228 CA719259 |
406 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA719258 rs758997038 |
407 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA719257 rs201740759 |
409 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227054283 CA339492808 |
412 | M>R | No |
ClinGen gnomAD |
|
|
COSM1205881 rs1291073672 CA339492768 |
418 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1436190770 CA339492767 |
418 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1292107854 CA339492764 |
419 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371287659 CA719256 |
420 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339492755 rs1229159382 |
420 | R>W | No |
ClinGen gnomAD |
|
|
rs1231184911 CA339492752 |
421 | K>Q | No |
ClinGen gnomAD |
|
|
rs1352280800 CA339492724 |
424 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719253 rs199508870 |
433 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339492652 rs1324943337 |
434 | G>D | No |
ClinGen gnomAD |
|
|
CA19933338 rs186431555 |
435 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA719236 rs186431555 |
435 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA719235 rs769406386 |
439 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1402952415 CA339492601 |
440 | Q>H | No |
ClinGen TOPMed |
|
|
CA339492599 rs1175606718 |
441 | R>G | No |
ClinGen TOPMed |
|
|
CA719234 rs747927206 |
441 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453918950 CA339492575 |
444 | A>S | No |
ClinGen gnomAD |
|
|
CA19933330 rs959247617 |
447 | R>I | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719232 rs768493982 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA719231 rs746900722 |
452 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA719230 rs780140029 |
454 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA19933299 rs757473934 |
458 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA719229 rs757473934 |
458 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19933300 rs757473934 |
458 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19933296 rs267598537 |
461 | G>E | No |
ClinGen Ensembl |
|
|
rs999150025 CA19933293 |
463 | A>S | No |
ClinGen Ensembl |
|
|
CA719228 rs749343797 |
463 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339492441 rs1369691290 |
465 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756352735 CA719226 |
472 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1309974271 CA339492353 |
476 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1462601576 CA339492342 |
478 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA719206 rs781256975 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA339492310 rs781256975 |
483 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339492261 rs1350775696 |
491 | A>S | No |
ClinGen gnomAD |
|
|
rs751890840 CA719204 |
493 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA339492206 rs1401820909 COSM907949 |
500 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1366435110 CA339492186 |
502 | F>L | No |
ClinGen gnomAD |
|
|
CA339492129 rs986350419 |
510 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA19932632 rs986350419 |
510 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144061325 CA719179 |
517 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339492050 rs1309527502 |
520 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 521 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339492009 rs1460069200 |
526 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA19955295 rs1012335567 |
530 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1179082583 CA339491944 |
535 | I>T | No |
ClinGen gnomAD |
|
|
rs1331020848 CA339491920 |
539 | R>* | No |
ClinGen TOPMed |
|
|
CA719174 rs767484692 |
539 | R>Q | No |
ClinGen ExAC |
|
| TCGA novel | 542 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350616767 CA339491859 |
547 | Q>H | No |
ClinGen gnomAD |
|
|
rs1206046333 CA339491863 |
547 | Q>P | No |
ClinGen gnomAD |
|
|
rs1471407219 CA339491587 |
548 | H>Q | No |
ClinGen gnomAD |
|
|
CA719144 rs774517474 |
549 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 549 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181123452 CA339491566 |
551 | P>H | No |
ClinGen gnomAD |
|
|
rs1181123452 CA339491564 |
551 | P>L | No |
ClinGen gnomAD |
|
|
CA339491567 rs1188626378 |
551 | P>S | No |
ClinGen TOPMed |
|
|
COSM230441 CA719143 rs771486693 |
562 | V>A | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs867713285 CA19952346 |
563 | S>A | No |
ClinGen Ensembl |
|
|
CA339491435 rs1214520305 |
570 | L>H | No |
ClinGen gnomAD |
No associated diseases with Q99504
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone tyrosine phosphatase activity (H2-Y142 specific) | Catalysis of the reaction: histone H2 tyrosine phosphate (position 142) + H2O = histone tyrosine (position 142) + phosphate. |
| metal ion binding | Binding to a metal ion. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure development | The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. |
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| 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. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand. |
| positive regulation of DNA repair | Any process that activates or increases the frequency, rate or extent of DNA repair. |
| response to ionizing radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P97480 | Eya3 | Eyes absent homolog 3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEEQDLPEQ | PVKKAKMQES | GEQTISQVSN | PDVSDQKPET | SSLASNLPMS | EEIMTCTDYI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRSSNDYTSQ | MYSAKPYAHI | LSVPVSETAY | PGQTQYQTLQ | QTQPYAVYPQ | ATQTYGLPPF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GALWPGMKPE | SGLIQTPSPS | QHSVLTCTTG | LTTSQPSPAH | YSYPIQASST | NASLISTSST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IANIPAAAVA | SISNQDYPTY | TILGQNQYQA | CYPSSSFGVT | GQTNSDAEST | TLAATTYQSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KPSVMAPAPA | AQRLSSGDPS | TSPSLSQTTP | SKDTDDQSRK | NMTSKNRGKR | KADATSSQDS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELERVFLWDL | DETIIIFHSL | LTGSYAQKYG | KDPTVVIGSG | LTMEEMIFEV | ADTHLFFNDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EECDQVHVED | VASDDNGQDL | SNYSFSTDGF | SGSGGSGSHG | SSVGVQGGVD | WMRKLAFRYR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KVREIYDKHK | SNVGGLLSPQ | RKEALQRLRA | EIEVLTDSWL | GTALKSLLLI | QSRKNCVNVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITTTQLVPAL | AKVLLYGLGE | IFPIENIYSA | TKIGKESCFE | RIVSRFGKKV | TYVVIGDGRD |
| 550 | 560 | 570 | |||
| EEIAAKQHNM | PFWRITNHGD | LVSLHQALEL | DFL |