E9PKD4
PR
Gene name |
NPIPA5 |
Protein name |
Nuclear pore complex-interacting protein family member A5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:100288332 |
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 E9PKD4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-E9PKD4-F1 | Predicted | AlphaFoldDB |
342 variants for E9PKD4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7918120 RCV000240033 rs886037884 |
321 | P>L | Oromandibular-limb hypogenesis spectrum [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1480203098 CA395198088 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395198073 rs1202850359 |
8 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395198056 rs1242504560 |
9 | W>C | No |
ClinGen TOPMed |
|
|
rs1321132594 CA395198043 |
11 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395198039 rs1418791176 |
12 | G>E | No |
ClinGen TOPMed |
|
|
rs1555500798 CA395198027 |
14 | C>Y | No |
ClinGen Ensembl |
|
|
rs1259659923 CA395198019 |
15 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1227704607 CA395197995 |
18 | H>R | No |
ClinGen gnomAD |
|
|
rs906904676 CA278975026 |
19 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325427590 CA395197991 |
19 | S>T | No |
ClinGen gnomAD |
|
|
rs1045809639 CA278975025 |
20 | A>P | No |
ClinGen TOPMed |
|
|
CA7918311 rs767191145 |
30 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395197888 rs1371516625 |
32 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395197866 rs1178138565 |
35 | D>E | No |
ClinGen TOPMed |
|
|
rs1167051927 CA395197873 |
35 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395197807 rs1243736049 |
44 | I>V | No |
ClinGen gnomAD |
|
|
rs1182906084 CA395197728 |
55 | A>G | No |
ClinGen gnomAD |
|
|
rs1598401366 CA395197724 |
56 | I>V | No |
ClinGen Ensembl |
|
|
rs1459869321 CA395197688 |
61 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1252416530 CA395197674 |
63 | L>F | No |
ClinGen gnomAD |
|
|
rs1196106281 CA395197663 |
64 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA395197134 rs1334347051 |
65 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395197150 rs1238857113 |
65 | V>M | No |
ClinGen gnomAD |
|
|
rs1325866144 CA395197129 |
66 | S>T | No |
ClinGen gnomAD |
|
|
CA395197109 rs1405790330 |
67 | F>L | No |
ClinGen gnomAD |
|
|
rs1337910692 CA395197026 |
71 | I>M | No |
ClinGen TOPMed |
|
|
rs1365136177 CA395197038 |
71 | I>V | No |
ClinGen gnomAD |
|
|
rs951646659 CA278974482 |
72 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395196993 rs1421554594 |
73 | P>A | No |
ClinGen gnomAD |
|
|
CA278974481 rs918928588 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395196983 rs918928588 |
73 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1421554594 CA395196991 |
73 | P>S | No |
ClinGen gnomAD |
|
|
rs971732346 CA278974479 |
74 | S>P | No |
ClinGen TOPMed |
|
|
rs1469508949 CA395196938 |
75 | Q>R | No |
ClinGen gnomAD |
|
|
rs1336939584 CA395196907 |
76 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361868357 CA395196850 |
78 | H>R | No |
ClinGen gnomAD |
|
|
CA7918296 rs754355618 |
79 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395196795 rs1259525613 |
80 | G>A | No |
ClinGen TOPMed |
|
|
CA395196790 rs1259525613 |
80 | G>E | No |
ClinGen TOPMed |
|
|
rs1435705136 CA395196774 |
81 | S>F | No |
ClinGen TOPMed |
|
|
CA395196764 rs1480577807 |
82 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7918294 rs201129860 |
83 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395196642 rs1448207604 |
87 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752236308 CA7918293 |
89 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918291 rs199949658 |
93 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751213335 CA395196501 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395196498 rs1224458756 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7918290 rs751213335 |
94 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395196470 rs1345157233 |
96 | Q>* | No |
ClinGen gnomAD |
|
|
rs766295085 CA7918289 |
97 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1039849155 CA278974467 |
100 | K>Q | No |
ClinGen TOPMed |
|
|
CA395196295 rs1428688330 |
101 | I>V | No |
ClinGen gnomAD |
|
|
rs1363005946 CA395196224 |
103 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 105 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395196181 rs1384987688 |
105 | D>N | No |
ClinGen TOPMed |
|
|
CA395196086 rs1453187430 |
108 | T>S | No |
ClinGen gnomAD |
|
|
rs1291072746 CA395196064 |
109 | L>S | No |
ClinGen TOPMed |
|
|
rs1405088938 CA395196052 |
110 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1263056135 CA395195962 |
113 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395195853 rs1411318295 |
116 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395195801 rs1166850164 |
118 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA395195807 rs1166850164 |
118 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395195793 rs1474127365 |
118 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA395195797 rs1474127365 |
118 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA395195768 rs1235369027 |
119 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395195713 rs1243818654 |
121 | I>T | No |
ClinGen TOPMed |
|
|
rs1598394793 CA395195692 |
122 | R>C | No |
ClinGen Ensembl |
|
|
rs532281659 CA278974465 |
122 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA395195657 rs1598394770 |
124 | M>L | No |
ClinGen Ensembl |
|
|
rs1382899514 CA395195593 |
126 | V>M | No |
ClinGen gnomAD |
|
|
rs866696772 CA278974463 |
128 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1290594614 CA395195478 |
131 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs251628 CA7918284 |
132 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207022210 CA395195456 |
132 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1207022210 CA395195451 |
132 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs251628 CA395195471 |
132 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377396156 CA395195367 |
135 | K>Q | No |
ClinGen TOPMed |
|
|
CA395195264 rs1392970905 |
137 | N>S | No |
ClinGen TOPMed |
|
|
CA278974462 rs796096193 |
138 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395195186 rs1555499714 |
140 | R>K | No |
ClinGen Ensembl |
|
|
rs1335168855 CA395195174 |
141 | K>* | No |
ClinGen TOPMed |
|
|
CA395193906 rs1272539096 |
143 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395193910 rs1272539096 |
143 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395193899 rs1212944300 |
143 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395193885 rs1361671503 |
144 | K>R | No |
ClinGen gnomAD |
|
|
CA395193868 rs1315733440 |
145 | E>K | No |
ClinGen gnomAD |
|
|
CA7918280 rs577746381 |
148 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1259700528 CA395197404 |
149 | K>N | No |
ClinGen TOPMed |
|
|
CA395197419 rs1188366353 |
149 | K>Q | No |
ClinGen TOPMed |
|
|
rs1598388555 CA395197385 |
151 | S>R | No |
ClinGen Ensembl |
|
|
rs1218271745 CA395197377 |
151 | S>R | No |
ClinGen Ensembl |
|
|
rs1358692552 CA395197323 |
155 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1310460311 CA395197313 |
155 | R>H | No |
ClinGen gnomAD |
|
|
rs778199235 CA7918278 |
158 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395197257 rs1164447951 |
159 | E>Q | No |
ClinGen TOPMed |
|
|
rs201679322 CA7918277 |
160 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395197233 rs1455767230 |
160 | K>T | No |
ClinGen TOPMed |
|
|
rs1367009072 CA395197216 |
161 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA395197187 rs1414829905 |
163 | Q>* | No |
ClinGen TOPMed |
|
|
CA395197066 rs1423435833 |
169 | E>D | No |
ClinGen gnomAD |
|
|
CA395197037 rs1348708170 |
170 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395197015 rs1420131792 |
171 | G>R | No |
ClinGen gnomAD |
|
|
CA395197004 rs1407728444 |
171 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1326473007 CA395196985 |
172 | K>T | No |
ClinGen gnomAD |
|
|
CA395196970 rs1180404400 |
173 | L>W | No |
ClinGen gnomAD |
|
|
rs1598388395 CA395196945 |
174 | D>E | No |
ClinGen Ensembl |
|
|
rs956806126 CA395196903 |
176 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1598388376 CA395196871 |
178 | I>V | No |
ClinGen Ensembl |
|
|
rs1269830118 CA395196761 |
182 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1392343190 CA395196554 |
187 | R>H | No |
ClinGen TOPMed |
|
|
CA395196533 rs1226313692 |
188 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395196521 rs1347064942 |
189 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395196443 rs1403876490 |
193 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1349474780 CA395196447 |
193 | R>W | No |
ClinGen TOPMed |
|
|
rs1216065704 CA395196429 |
194 | R>Q | No |
ClinGen gnomAD |
|
|
rs1364885495 CA395196432 |
194 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA395196325 rs1339593196 |
199 | Y>H | No |
ClinGen TOPMed |
|
|
CA395196135 rs1462648726 |
203 | I>V | No |
ClinGen TOPMed |
|
|
CA395196093 rs1471147920 |
204 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1471147920 CA395196101 |
204 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1327244131 CA395195906 |
212 | C>S | No |
ClinGen TOPMed |
|
|
CA395195802 rs1233723828 |
214 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7918259 rs781738685 |
218 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7918258 rs781738685 |
218 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395193491 rs1471731164 |
219 | A>E | No |
ClinGen gnomAD |
|
|
CA7918256 rs746507529 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7918253 rs200821579 |
220 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200821579 CA7918254 |
220 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918255 rs200821579 |
220 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365336673 CA395193487 |
220 | V>L | No |
ClinGen gnomAD |
|
|
CA395193470 rs1249136724 |
221 | E>* | No |
ClinGen gnomAD |
|
|
CA395193448 rs1403169349 |
222 | H>R | No |
ClinGen TOPMed |
|
|
rs759668623 CA7918248 |
223 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759668623 CA7918249 |
223 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199563685 CA7918247 |
223 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395193432 rs199563685 |
223 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395193436 rs199563685 |
223 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759668623 CA395193438 |
223 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261709738 CA395193391 |
226 | S>L | No |
ClinGen gnomAD |
|
|
CA395193371 rs1228130898 |
228 | L>* | No |
ClinGen gnomAD |
|
|
CA395193359 rs1348912765 |
229 | P>S | No |
ClinGen gnomAD |
|
|
rs766625790 CA7918246 |
230 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763264153 CA7918245 |
231 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA395193333 rs1321604626 |
233 | Y>H | No |
ClinGen gnomAD |
|
|
CA7918244 rs773255084 |
234 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1224236141 CA395193322 |
234 | L>P | No |
ClinGen gnomAD |
|
|
rs1238774012 CA395193319 |
235 | T>A | No |
ClinGen TOPMed |
|
|
rs770203254 CA7918243 |
236 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7918242 rs748461315 |
238 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7918241 rs777337068 |
239 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1480529624 CA395193281 |
241 | N>D | No |
ClinGen gnomAD |
|
|
rs1196083710 CA395193274 |
242 | R>G | No |
ClinGen gnomAD |
|
|
rs1449269006 CA395193272 |
242 | R>K | No |
ClinGen gnomAD |
|
|
rs1263013435 CA395193268 |
242 | R>S | No |
ClinGen gnomAD |
|
|
rs769267021 CA7918239 |
243 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1208555042 CA395193265 |
243 | M>L | No |
ClinGen gnomAD |
|
|
CA7918237 rs550131047 |
244 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550131047 CA7918238 |
244 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918235 rs745547690 |
245 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757797717 CA7918236 |
245 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193240 rs1432952220 |
247 | P>A | No |
ClinGen gnomAD |
|
|
rs757143424 CA7918233 |
248 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778362801 CA7918234 |
248 | P>T | No |
ClinGen ExAC |
|
|
rs1321136663 CA395193226 |
249 | P>L | No |
ClinGen gnomAD |
|
|
CA7918232 rs753615632 |
251 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1178266777 CA395193211 |
252 | Q>P | No |
ClinGen gnomAD |
|
|
rs1470026569 CA395193204 |
253 | Q>* | No |
ClinGen gnomAD |
|
|
rs1470026569 CA395193205 |
253 | Q>E | No |
ClinGen gnomAD |
|
|
rs531795063 CA7918230 |
254 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918228 rs531795063 |
254 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531795063 CA7918229 |
254 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762880525 CA395193190 |
255 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762880525 CA7918226 |
255 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA395193192 rs1374212995 |
255 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750727643 CA7918225 |
256 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs765369021 CA7918224 |
256 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193180 rs777107918 |
257 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918222 rs777107918 |
257 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918223 rs762289136 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA395193172 rs1428087240 |
258 | D>E | No |
ClinGen gnomAD |
|
|
CA7918221 rs769103687 |
258 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs1276754487 CA395193164 |
259 | N>K | No |
ClinGen gnomAD |
|
|
CA395193159 rs1216471918 |
260 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395193158 rs1216471918 |
260 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395193160 rs1216471918 |
260 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776082453 CA7918219 |
262 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7918217 rs745365541 |
262 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770466401 CA7918215 |
264 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749118037 CA7918214 |
265 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331783804 CA395193129 |
265 | T>I | No |
ClinGen gnomAD |
|
|
rs1398665773 CA395193126 |
266 | P>H | No |
ClinGen TOPMed |
|
|
CA7918213 rs777572587 |
266 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193127 rs777572587 |
266 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448237707 CA395193120 |
267 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395193119 rs1448237707 |
267 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7918212 rs755849460 |
267 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193117 rs144896967 |
268 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543183993 CA7918208 |
268 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918209 rs144896967 |
268 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395193118 rs144896967 |
268 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200921708 CA7918207 |
269 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193111 rs200921708 |
269 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918204 rs572468388 |
269 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918205 rs572468388 |
269 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918206 rs572468388 |
269 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918202 rs776130429 |
270 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278974161 rs776130429 |
270 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761055659 CA7918203 |
270 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759133435 CA7918200 |
271 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918201 rs759133435 |
271 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759133435 CA395193108 |
271 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392308666 CA395193101 |
272 | Y>* | No |
ClinGen TOPMed |
|
|
rs148628178 CA7918194 |
272 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918196 rs148628178 |
272 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395193104 rs748959422 |
272 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748959422 CA7918197 |
272 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148628178 CA7918195 |
272 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545270815 CA395193100 |
273 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918193 rs545270815 |
273 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545270815 CA7918192 |
273 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1282152460 CA395193092 |
274 | L>P | No |
ClinGen gnomAD |
|
|
rs746929060 CA7918191 |
275 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA395193086 rs1306914426 |
275 | P>L | No |
ClinGen gnomAD |
|
|
rs1166118945 CA395193077 |
277 | S>A | No |
ClinGen gnomAD |
|
|
CA7918190 rs577874482 |
277 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1166118945 CA395193079 |
277 | S>T | No |
ClinGen gnomAD |
|
|
CA7918189 rs757355047 |
278 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918184 rs752982027 |
279 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193066 rs1251335937 |
279 | D>E | No |
ClinGen gnomAD |
|
|
CA395193067 rs752982027 |
279 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918185 rs764407712 |
279 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7918183 rs752982027 |
279 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918180 rs774868708 |
280 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7918182 rs768109129 |
280 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7918181 rs759988923 |
280 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222231985 CA395193055 |
281 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287504177 CA395193047 |
282 | L>P | No |
ClinGen gnomAD |
|
|
rs769416865 CA395193029 |
285 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918176 rs769416865 |
285 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395193030 rs772910408 |
285 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772910408 CA7918177 |
285 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918173 rs556294566 |
286 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7918172 rs768450403 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556294566 CA7918174 |
286 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7918167 rs756373105 |
287 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752923313 CA395193021 |
287 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7918166 rs756373105 |
287 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537646759 CA7918168 |
287 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537646759 CA7918169 |
287 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395193019 rs1598384983 |
288 | C>R | No |
ClinGen Ensembl |
|
|
rs1396375470 CA395193005 |
290 | L>F | No |
ClinGen TOPMed |
|
|
rs755307242 CA7918163 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7918162 rs573358226 |
291 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555031999 CA395193000 |
291 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555031999 CA7918160 |
291 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573358226 CA7918161 |
291 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772680553 CA395192999 |
292 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs772680553 CA7918159 |
292 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1488139608 CA395192992 |
293 | L>F | No |
ClinGen gnomAD |
|
|
CA395192984 rs1314786949 |
294 | P>R | No |
ClinGen TOPMed |
|
|
rs1217763626 CA395192978 |
295 | P>L | No |
ClinGen gnomAD |
|
|
rs764690715 CA7918157 |
295 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918152 rs199607565 |
298 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs746817043 CA7918153 |
298 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA395192960 rs749417369 |
299 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918150 rs749417369 |
299 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918151 rs772111057 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395192957 rs1301412932 |
300 | S>P | No |
ClinGen gnomAD |
|
|
CA7918148 rs748328254 |
301 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748328254 CA7918149 |
301 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385716298 CA395192952 |
301 | A>T | No |
ClinGen gnomAD |
|
|
CA7918147 rs748328254 |
301 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566108517 CA278974159 |
303 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436371867 CA395192936 |
303 | D>V | No |
ClinGen gnomAD |
|
|
rs1318892240 CA395192934 |
304 | N>D | No |
ClinGen gnomAD |
|
|
CA395192927 rs1378390842 |
304 | N>K | No |
ClinGen gnomAD |
|
|
rs1471096015 CA395192931 |
304 | N>S | No |
ClinGen gnomAD |
|
|
CA395192926 rs1175512500 |
305 | L>I | No |
ClinGen gnomAD |
|
|
CA395192925 rs1175512500 |
305 | L>V | No |
ClinGen gnomAD |
|
|
CA395192907 rs1380418106 |
307 | T>I | No |
ClinGen TOPMed |
|
|
rs1421659569 CA395192902 |
308 | P>R | No |
ClinGen gnomAD |
|
|
rs551108121 CA7918141 |
309 | A>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA7918142 rs367885695 |
309 | A>P | No |
ClinGen TOPMed |
|
|
CA395192899 rs367885695 |
309 | A>S | No |
ClinGen TOPMed |
|
|
rs551108121 CA395192897 |
309 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA7918137 rs750884374 |
310 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309853674 CA395192885 |
311 | C>F | No |
ClinGen TOPMed |
|
|
CA7918135 rs184536511 |
311 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7918133 rs192208126 |
312 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA7918131 rs760434537 |
313 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200515084 CA7918127 |
314 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201420102 CA395192873 |
314 | T>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201420102 CA7918129 |
314 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA395192869 rs759568629 |
315 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774369108 CA7918125 |
315 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759568629 CA7918126 |
315 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324996 CA7918123 |
318 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781324996 CA7918122 |
318 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780423667 CA7918118 |
322 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918115 rs758707893 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169257724 CA395192813 |
325 | D>G | No |
ClinGen gnomAD |
|
|
CA395192811 rs1169257724 |
325 | D>V | No |
ClinGen gnomAD |
|
|
rs750934947 CA7918110 |
326 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750934947 CA395192807 |
326 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395192791 rs1186509291 |
328 | L>F | No |
ClinGen gnomAD |
|
|
CA7918107 rs779388906 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA395192769 rs1303667994 |
331 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1303667994 CA395192770 |
331 | P>R | No |
ClinGen TOPMed |
|
|
CA7918105 rs531935972 |
332 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1482041168 CA395192765 |
332 | P>L | No |
ClinGen gnomAD |
|
|
rs531935972 CA278974157 |
332 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7918100 rs201487986 |
333 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7918096 rs200439267 |
334 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1205212408 CA7918097 |
334 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1205212408 CA395192757 |
334 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1567403872 CA395192742 |
336 | C>F | No |
ClinGen Ensembl |
|
|
CA278974156 rs1053531593 |
336 | C>G | No |
ClinGen TOPMed |
|
|
CA278974155 rs935189053 |
337 | S>L | No |
ClinGen TOPMed |
|
|
CA7918087 rs527823489 |
338 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776805496 CA7918084 |
339 | P>H | No |
ClinGen ExAC TOPMed |
|
|
rs776805496 CA395192725 |
339 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs747248343 CA278974154 CA395192710 |
341 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775623151 CA7918080 |
342 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7918079 rs772492547 |
342 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775623151 CA395192709 |
342 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343796156 CA395192699 |
343 | Q>H | No |
ClinGen TOPMed |
|
|
rs987414263 CA395192695 |
344 | R>L | No |
ClinGen TOPMed |
|
|
CA7918075 rs987414263 |
344 | R>Q | No |
ClinGen TOPMed |
|
|
CA7918077 rs746220450 |
344 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395192681 rs1368852751 |
346 | I>T | No |
ClinGen gnomAD |
|
|
CA395192675 rs779338592 |
347 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7918073 rs779338592 |
347 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA395192677 rs1186527504 |
347 | I>V | No |
ClinGen gnomAD |
|
|
CA278974153 rs954582188 |
348 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA395192672 rs1305475186 |
348 | S>P | No |
ClinGen gnomAD |
|
|
CA278974152 rs560501721 |
350 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918071 rs560501721 |
350 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7918070 rs560501721 |
350 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with E9PKD4
No regional properties for E9PKD4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for E9PKD4 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E9PJI5 | NPIPA7 | Nuclear pore complex-interacting protein family member A7 | Homo sapiens (Human) | PR |
| P0DM63 | NPIPA8 | Nuclear pore complex-interacting protein family member A8 | Homo sapiens (Human) | PR |
| Q9UND3 | NPIPA1 | Nuclear pore complex-interacting protein family member A1 | Homo sapiens (Human) | PR |
| F8WFD2 | NPIPA3 | Nuclear pore complex-interacting protein family member A3 | Homo sapiens (Human) | PR |
| E9PIF3 | NPIPA2 | Nuclear pore complex-interacting protein family member A2 | Homo sapiens (Human) | PR |
| A6NJ64 | NPIPB2 | Putative nuclear pore complex-interacting protein family member B2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFCCLGYEWL | SGGCKTWHSA | WVINTLADHR | HRGTDFGGSP | WLLIITVFLR | SYKFAISLCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYLCVSFLKT | IFPSQNGHDG | STDVQQRARR | SNCRRQEGIK | IVLEDIFTLW | RQVETKVRAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRKMKVTTKV | NRHDKINGKR | KTAKEHLRKL | SMKEREHGEK | ERQVSEAEEN | GKLDMKEIHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YMEMFQRAQA | LRRRAEDYYR | CKITPSARKP | LCNRVRMAAV | EHRHSSGLPY | WPYLTAETLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NRMGHQPPPP | TQQHSIIDNS | LSLKTPSERL | LYPLPPSADD | NLKTPPECLL | TPLPPSALPS |
| 310 | 320 | 330 | 340 | ||
| ADDNLKTPAE | CLLTPLPPSA | PPSADDNLKT | PPECVCSLPF | HPQRMIISRN |