Q14195
PR
Gene name |
DPYSL3 (CRMP4, DRP3, ULIP, ULIP1) |
Protein name |
Dihydropyrimidinase-related protein 3 |
Names |
DRP-3, Collapsin response mediator protein 4, CRMP-4, Unc-33-like phosphoprotein 1, ULIP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1809 |
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
5 structures for Q14195
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4BKN | X-ray | 210 A | A/B | 1-570 | PDB |
| 4CNS | X-ray | 240 A | A/B/C/D | 13-490 | PDB |
| 4CNT | X-ray | 265 A | A/B/C/D | 1-570 | PDB |
| 4CNU | X-ray | 280 A | A/B | 1-570 | PDB |
| AF-Q14195-F1 | Predicted | AlphaFoldDB |
379 variants for Q14195
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1291205451 CA361883311 |
3 | Y>C | No |
ClinGen gnomAD |
|
|
CA129663524 rs984697504 |
13 | T>R | No |
ClinGen TOPMed |
|
|
CA128938648 rs771972753 |
16 | R>C | No |
ClinGen Ensembl |
|
|
rs374440794 CA3493956 |
16 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA128938613 rs933190174 |
19 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1265792687 CA361652029 |
19 | I>V | No |
ClinGen gnomAD |
|
|
rs778230955 CA3493955 |
20 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA361651998 rs1333906044 |
21 | G>A | No |
ClinGen gnomAD |
|
|
CA361651982 rs1409839247 |
23 | R>G | No |
ClinGen gnomAD |
|
|
CA3493952 rs376535312 |
25 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426127055 CA361651936 |
26 | N>S | No |
ClinGen gnomAD |
|
|
rs1393394009 CA361651919 |
27 | D>A | No |
ClinGen gnomAD |
|
|
CA361651892 rs1164185028 |
29 | Q>P | No |
ClinGen gnomAD |
|
|
CA3493951 rs754503646 |
30 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493950 rs751057179 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581187059 CA361651834 |
34 | D>E | No |
ClinGen Ensembl |
|
|
rs1184469866 CA361651840 |
34 | D>H | No |
ClinGen gnomAD |
|
|
CA128938559 rs1000205679 |
34 | D>V | No |
ClinGen TOPMed |
|
|
rs1423928952 CA361651810 |
37 | M>I | No |
ClinGen Ensembl |
|
|
rs954682768 CA128938552 |
37 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1260778682 CA361651085 |
45 | I>T | No |
ClinGen gnomAD |
|
|
rs1251779877 CA361651062 |
47 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 50 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361650964 rs1429252383 |
54 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361650970 rs1177783408 |
54 | G>R | No |
ClinGen TOPMed |
|
|
CA361650940 rs1271087572 |
56 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3493931 rs376419607 |
57 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958023861 CA128934222 |
58 | I>T | No |
ClinGen Ensembl |
|
|
rs754627549 CA3493930 |
58 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751063562 CA3493929 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322955406 CA361650861 |
61 | N>D | No |
ClinGen gnomAD |
|
|
CA128934220 rs1007434012 |
61 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1405913183 CA361650824 |
63 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3493928 rs779569209 |
66 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3493927 rs758346627 |
67 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3827340 CA3493926 rs750296589 |
68 | G>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3493925 rs373398234 |
69 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369477048 COSM371956 CA3493923 |
71 | D>N | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1051623683 CA128934191 |
72 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3493922 rs767677729 |
73 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3493921 rs759750712 |
76 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17853869 CA128934177 |
76 | F>Y | No |
ClinGen Ensembl |
|
|
rs1216057747 CA361650181 |
78 | M>T | No |
ClinGen TOPMed |
|
|
CA361650160 rs774304174 |
79 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774304174 CA3493920 |
79 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763117789 CA3493918 |
80 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493917 rs773912873 |
82 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361650050 rs1300277747 |
84 | T>N | No |
ClinGen gnomAD |
|
|
CA3493916 rs770401823 |
88 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766199489 CA361649919 |
90 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3493915 rs766199489 |
90 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3493914 rs781579811 |
94 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361649828 rs1198126870 |
95 | A>T | No |
ClinGen TOPMed |
|
|
CA3493913 rs768216009 |
95 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361649803 rs778829032 |
96 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493911 rs778829032 |
96 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409813415 CA361649750 |
99 | G>V | No |
ClinGen TOPMed |
|
|
CA361649681 rs1383120272 |
103 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1183579974 CA361649646 |
105 | I>V | No |
ClinGen gnomAD |
|
|
rs139341814 CA361649286 |
109 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA128932485 rs139341814 |
109 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3493894 rs775183154 |
110 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA361649115 rs1251865507 |
115 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3493890 rs757195721 |
119 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs572434542 CA3493889 |
120 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367769724 CA128932467 |
121 | E>K | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 123 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777564671 CA3493888 |
125 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3493887 rs755992859 |
131 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036917761 TCGA novel CA128932458 |
133 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
| TCGA novel | 136 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344571206 CA361648616 |
138 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766746019 CA3493885 |
138 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361648588 rs750552836 |
140 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs750552836 CA3493883 |
140 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs973954644 CA128932435 |
140 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs147541241 CA3493881 |
141 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1193306229 CA361648564 |
142 | T>N | No |
ClinGen gnomAD |
|
|
CA361648549 rs1399366118 |
144 | W>R | No |
ClinGen Ensembl |
|
|
CA3493879 rs764498265 |
146 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3493877 rs116679689 COSM3768225 |
148 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1289392855 CA361648493 |
151 | E>G | No |
ClinGen TOPMed |
|
|
CA3493875 rs745478173 |
152 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771747440 CA3493876 |
152 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1442821716 CA361648483 |
153 | Q>* | No |
ClinGen Ensembl |
|
|
CA3493874 COSM1063915 rs773851486 |
155 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1204309430 CA361647650 |
160 | G>A | No |
ClinGen TOPMed |
|
|
CA3493873 rs770538365 |
160 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770462148 CA3493855 |
161 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1461179400 CA361647586 |
162 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368258730 CA361647541 |
165 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1561778293 CA361647499 |
167 | Y>C | No |
ClinGen Ensembl |
|
|
CA361647478 rs1561778288 |
168 | M>T | No |
ClinGen Ensembl |
|
|
rs772550085 CA3493853 |
171 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361647427 rs1391142497 |
171 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575844670 CA3493852 |
174 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1214623338 CA361647376 |
174 | Y>H | No |
ClinGen TOPMed |
|
|
CA361647368 COSM367404 rs1422565988 |
175 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1056679957 CA128931232 |
175 | Q>R | No |
ClinGen TOPMed |
|
|
rs748032395 CA3493851 |
176 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361647346 rs1561778266 |
178 | N>I | No |
ClinGen Ensembl |
|
|
CA361647250 rs1326526812 |
182 | Y>S | No |
ClinGen gnomAD |
|
|
CA3493837 rs772784218 |
184 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772784218 CA3493836 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228696631 COSM334627 CA361647190 |
186 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377270433 CA3493834 |
187 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323324495 CA361647186 |
187 | C>R | No |
ClinGen gnomAD |
|
|
CA361647168 rs1433481612 |
188 | L>P | No |
ClinGen gnomAD |
|
|
rs1379907448 CA361647171 |
188 | L>V | No |
ClinGen Ensembl |
|
|
CA128930480 rs931715826 |
190 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 190 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921701958 CA128930475 |
190 | E>V | No |
ClinGen TOPMed |
|
|
CA361647118 rs1392889178 |
191 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1581179645 CA361647104 |
193 | A>T | No |
ClinGen Ensembl |
|
|
rs768682357 CA3493832 |
193 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746847113 CA3493831 |
194 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA361647099 rs1213722276 |
194 | I>V | No |
ClinGen TOPMed |
|
|
CA3493830 rs775095992 |
195 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473049327 CA361647090 |
195 | A>V | No |
ClinGen gnomAD |
|
|
CA361647084 rs1561777845 |
196 | Q>L | No |
ClinGen Ensembl |
|
|
CA361647071 rs1177868696 |
198 | H>R | No |
ClinGen gnomAD |
|
|
rs771212935 CA3493829 |
201 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3493827 rs370048196 |
202 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1208097914 CA361647020 |
204 | I>L | No |
ClinGen gnomAD |
|
|
rs1463489765 CA361647007 |
205 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 207 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3493826 rs756257899 |
207 | Q>K | No |
ClinGen ExAC |
|
|
CA3493805 rs368879178 |
211 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3493804 rs755481306 |
211 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1456642358 CA361646419 |
212 | M>I | No |
ClinGen TOPMed |
|
|
rs747416841 CA3493803 |
212 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA361646356 rs1363687315 |
216 | G>R | No |
ClinGen gnomAD |
|
|
CA3493801 rs201487610 |
218 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3493797 rs367968514 |
224 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3493796 rs763626428 |
226 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128927743 rs913119486 |
229 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1290851841 CA361646173 |
230 | E>A | No |
ClinGen TOPMed |
|
|
rs1391849743 CA361645619 |
233 | A>T | No |
ClinGen TOPMed |
|
|
rs1179645447 CA361645596 |
235 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474166214 CA361645562 |
238 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3493773 rs751363047 |
238 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493771 rs762723911 |
240 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361645530 rs1346618241 |
241 | T>I | No |
ClinGen TOPMed |
|
|
rs1581176084 CA361645536 |
241 | T>P | No |
ClinGen Ensembl |
|
|
rs1231659274 CA361645526 |
242 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1276087650 CA361645508 |
244 | S>N | No |
ClinGen TOPMed |
|
|
CA361645496 rs1451554601 |
245 | Q>H | No |
ClinGen gnomAD |
|
|
CA361645494 rs1288298071 |
246 | T>A | No |
ClinGen gnomAD |
|
|
rs1009286976 CA128925777 |
246 | T>S | No |
ClinGen gnomAD |
|
|
CA361645449 rs1194770990 |
249 | P>S | No |
ClinGen TOPMed |
|
|
rs747180872 CA3493770 |
251 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377142026 CA3493768 |
252 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298556773 CA361645323 |
253 | T>P | No |
ClinGen gnomAD |
|
|
rs1347872582 CA361645263 |
256 | M>T | No |
ClinGen gnomAD |
|
|
rs775590493 CA3493767 |
257 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1031989147 CA361645157 |
259 | S>I | No |
ClinGen TOPMed |
|
|
CA128925763 rs1031989147 |
259 | S>N | No |
ClinGen TOPMed |
|
|
CA3493766 rs772484841 |
262 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA361645090 rs1262311328 |
262 | D>V | No |
ClinGen Ensembl |
|
|
rs1156238918 CA361645078 |
263 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3493748 rs767573218 |
273 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361643719 rs1561773057 |
273 | V>I | No |
ClinGen Ensembl |
|
|
CA3493747 rs759671041 |
280 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749696414 CA3493744 |
284 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261375806 CA361643450 |
286 | D>V | No |
ClinGen gnomAD |
|
|
CA361643321 rs1310597531 |
292 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 292 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280493973 CA361643275 |
293 | K>N | No |
ClinGen gnomAD |
|
|
rs1581173414 CA361643204 |
295 | W>L | No |
ClinGen Ensembl |
|
|
rs1234695140 CA361643189 |
296 | A>S | No |
ClinGen gnomAD |
|
|
CA3493742 rs769338348 |
296 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437159047 COSM1434986 CA361643138 |
298 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs754584484 CA3493739 |
299 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1269891882 CA361643111 |
300 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 302 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361643088 rs1464233292 |
302 | V>M | No |
ClinGen gnomAD |
|
|
rs1035665716 CA128922842 |
306 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 308 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3493734 rs765013840 |
309 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA361642955 rs1219921836 |
309 | P>R | No |
ClinGen TOPMed |
|
|
rs1451877544 CA361642944 |
310 | D>N | No |
ClinGen gnomAD |
|
|
rs756302276 CA3493733 |
312 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA361642889 rs1482414232 |
313 | T>A | No |
ClinGen gnomAD |
|
|
rs767626566 CA3493731 |
314 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361642802 rs1370991512 |
317 | I>N | No |
ClinGen TOPMed |
|
|
CA3493729 rs539740774 |
318 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128922777 rs941054021 |
319 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361642748 rs1370077188 |
320 | L>W | No |
ClinGen TOPMed gnomAD |
|
| rs751007269 | 323 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765632189 CA3493708 |
324 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361642477 rs1397615121 |
325 | D>Y | No |
ClinGen gnomAD |
|
|
rs1455505351 CA361642391 |
329 | S>C | No |
ClinGen TOPMed |
|
|
CA361642402 rs1456832027 |
329 | S>P | No |
ClinGen gnomAD |
|
|
rs776812299 CA3493706 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406378805 CA361642260 |
337 | S>T | No |
ClinGen TOPMed |
|
|
CA361642244 rs1468789441 |
338 | T>I | No |
ClinGen TOPMed |
|
|
CA361642240 rs1409969847 |
339 | A>S | No |
ClinGen gnomAD |
|
|
rs771625097 CA3493702 |
343 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128922209 rs368254542 |
343 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA128922195 rs76516681 |
348 | F>S | No |
ClinGen Ensembl |
|
|
rs200957398 CA128922193 |
349 | T>P | No |
ClinGen Ensembl |
|
|
rs1273280445 CA361642043 |
350 | A>T | No |
ClinGen gnomAD |
|
|
CA3493698 rs749143796 |
355 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777366989 CA3493697 |
356 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301015383 CA361641910 |
359 | E>K | No |
ClinGen gnomAD |
|
|
rs1385600033 CA361641891 |
361 | R>Q | No |
ClinGen gnomAD |
|
|
rs924697047 CA128922132 |
365 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA128922133 rs370311772 |
365 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1324562094 CA361641854 |
367 | D>N | No |
ClinGen TOPMed |
|
|
CA361641837 rs1046190056 |
369 | A>S | No |
ClinGen gnomAD |
|
|
rs1046190056 CA128922116 |
369 | A>T | No |
ClinGen gnomAD |
|
|
rs745990406 CA3493675 |
371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3493674 rs778792059 |
372 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA361641727 rs1212539373 |
373 | G>W | No |
ClinGen gnomAD |
|
|
rs1581171630 CA361641702 |
375 | M>T | No |
ClinGen Ensembl |
|
|
CA361641688 rs1350565597 |
376 | D>G | No |
ClinGen gnomAD |
|
|
rs764576617 CA3493671 |
377 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3493672 rs754356799 |
377 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs556229292 CA128921101 |
379 | Q>* | No |
ClinGen Ensembl |
|
|
CA361641647 rs1272022180 |
379 | Q>H | No |
ClinGen gnomAD |
|
|
CA361641650 rs1160512073 |
379 | Q>L | No |
ClinGen gnomAD |
|
|
rs878891490 CA128921093 |
380 | F>L | No |
ClinGen Ensembl |
|
|
CA361641635 rs1228190683 |
380 | F>L | No |
ClinGen gnomAD |
|
|
rs1339911001 CA361641615 |
382 | A>V | No |
ClinGen gnomAD |
|
|
CA3493670 rs756509306 |
383 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1252571387 CA361641578 |
386 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361641577 rs1252571387 |
386 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361641572 rs1245713924 |
387 | N>D | No |
ClinGen TOPMed |
|
|
rs759046215 CA3493667 |
388 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773930325 CA3493666 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201914504 CA128921080 |
393 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361641496 rs1421514555 |
394 | L>P | No |
ClinGen gnomAD |
|
|
CA361641477 rs1369407412 |
397 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361641418 rs1189699404 |
402 | S>F | No |
ClinGen gnomAD |
|
|
rs1561771346 CA361641407 |
403 | V>A | No |
ClinGen Ensembl |
|
|
rs1391143057 CA361641415 |
403 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 404 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776525457 CA3493660 |
405 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772341292 CA3493659 |
407 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1291512141 CA361641348 |
408 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361641310 rs1287517973 |
410 | V>G | No |
ClinGen gnomAD |
|
|
rs757343684 CA3493656 |
410 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356032463 CA361641306 |
411 | I>V | No |
ClinGen gnomAD |
|
|
rs1329516939 CA361641273 |
413 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361641248 rs1404684930 |
415 | D>G | No |
ClinGen gnomAD |
|
|
rs994683071 CA128920995 |
416 | A>T | No |
ClinGen TOPMed |
|
|
rs778298980 CA3493654 |
417 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207769671 CA361641180 |
420 | V>G | No |
ClinGen TOPMed |
|
|
CA3493652 rs372122886 |
420 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265683666 CA361641156 |
422 | A>P | No |
ClinGen TOPMed |
|
|
CA128920987 rs755401521 |
424 | N>T | No |
ClinGen Ensembl |
|
|
CA3493650 rs755360448 |
427 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361640359 rs758085369 |
428 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493621 rs758085369 |
428 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493620 rs758085369 |
428 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1581170428 CA361640351 |
429 | A>S | No |
ClinGen Ensembl |
|
|
rs764781361 CA3493618 |
429 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361640261 rs1432479692 |
437 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361640259 rs1432479692 |
437 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361640247 rs1345370738 |
438 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1434534045 CA361640225 |
440 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3493615 rs188735247 |
440 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_020485 CA3493613 rs2304044 |
442 | A>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs771087651 CA3493612 |
443 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445805600 CA361640192 |
444 | L>Q | No |
ClinGen gnomAD |
|
|
CA3493610 rs202141552 |
445 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3493611 rs202141552 |
445 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486990010 CA361640185 |
446 | V>I | No |
ClinGen gnomAD |
|
|
rs377603066 CA128919926 |
447 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA3493608 rs748199099 |
453 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493607 rs781599179 |
456 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361640072 rs1581170324 |
458 | N>T | No |
ClinGen Ensembl |
|
|
rs747367486 CA3493605 |
459 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3493602 rs147214429 |
461 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3493601 rs147214429 |
461 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128919882 rs1004810629 |
465 | A>P | No |
ClinGen Ensembl |
|
|
rs1489478190 CA361639996 |
465 | A>V | No |
ClinGen TOPMed |
|
|
rs377459296 CA3493598 |
467 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753362629 CA3493599 |
467 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs532476363 CA3493597 |
470 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361639953 rs1252503783 |
470 | P>S | No |
ClinGen TOPMed |
|
|
rs752450859 CA3493596 |
472 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs373475070 CA128919874 |
473 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200874080 CA3493591 |
476 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3493592 rs200874080 |
476 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3493593 rs200874080 |
476 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369865347 CA361639850 |
477 | Y>C | No |
ClinGen TOPMed |
|
|
CA3493590 rs776734034 |
477 | Y>D | No |
ClinGen ExAC |
|
|
rs1324612396 CA361639825 |
479 | Y>F | No |
ClinGen TOPMed |
|
|
CA361639832 rs1461681252 |
479 | Y>H | No |
ClinGen TOPMed |
|
|
CA3493589 rs769049808 |
481 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361639802 rs1474309300 |
481 | R>H | No |
ClinGen gnomAD |
|
|
rs965952237 CA128919836 |
482 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361639798 rs965952237 |
482 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775844954 CA3493587 |
485 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1434984 CA3493588 rs747491194 |
485 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361639746 rs1293651290 |
486 | R>K | No |
ClinGen TOPMed |
|
|
rs1561770459 CA361639715 |
487 | K>T | No |
ClinGen Ensembl |
|
|
CA361639092 rs1374998534 |
489 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3493570 rs200587767 |
490 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381394072 CA361639083 |
490 | D>G | No |
ClinGen TOPMed |
|
|
rs1393657269 CA361639088 |
490 | D>N | No |
ClinGen gnomAD |
|
|
rs1296604219 CA361639071 |
491 | L>Q | No |
ClinGen TOPMed |
|
|
CA128918270 rs866804037 |
493 | A>V | No |
ClinGen gnomAD |
|
|
CA3493568 rs776105614 |
494 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361639011 rs1376867895 |
496 | R>T | No |
ClinGen TOPMed |
|
|
rs1453318131 CA361638991 |
498 | M>I | No |
ClinGen gnomAD |
|
|
rs1448991070 CA361638994 |
498 | M>K | No |
ClinGen TOPMed |
|
|
CA361638996 rs1166003966 |
498 | M>V | No |
ClinGen gnomAD |
|
|
rs772681423 CA3493567 |
500 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs774814276 CA3493565 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3493563 rs749030462 |
506 | L>R | No |
ClinGen ExAC |
|
|
rs200381159 CA3493564 |
506 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128918230 rs990783323 |
509 | T>I | No |
ClinGen gnomAD |
|
|
rs990783323 CA361638877 |
509 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3493561 rs755693993 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1561769309 CA361638846 |
512 | G>C | No |
ClinGen Ensembl |
|
|
CA361638814 rs1259355479 |
514 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361638818 rs1259355479 |
514 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361638825 rs1581168595 |
514 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 515 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781130845 CA361638796 |
516 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3493559 rs781130845 |
516 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1803521 CA3493558 |
517 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1235306105 CA361638784 |
517 | G>S | No |
ClinGen TOPMed |
|
|
rs1803521 CA128918208 |
517 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361638745 rs751361322 |
520 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493556 rs766107448 |
520 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751361322 CA3493557 |
520 | R>W | Variant assessed as Somatic; 0.0002323 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754155618 CA3493555 |
521 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 521 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754155618 CA3493554 |
521 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA361638715 rs1181060345 |
522 | S>A | No |
ClinGen TOPMed |
|
|
rs1426207967 CA361638710 |
522 | S>C | No |
ClinGen gnomAD |
|
|
CA361638680 rs1383006271 |
525 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361638684 rs1383006271 |
525 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA128918171 rs902623921 |
525 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3493553 rs372328515 |
526 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394235672 CA361638666 |
527 | N>S | No |
ClinGen gnomAD |
|
|
rs1415314922 CA361638639 |
529 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA128918132 rs367549900 |
532 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs768165929 CA3493550 |
534 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA128918100 rs983506607 |
535 | Q>H | No |
ClinGen TOPMed |
|
|
CA128918097 rs752895926 |
536 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA128918074 rs1035491375 |
537 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1207358713 CA361638555 |
538 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3493519 rs542333524 |
543 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128916859 rs1025206541 |
543 | T>I | No |
ClinGen Ensembl |
|
|
CA128916840 rs17853868 |
544 | Q>* | No |
ClinGen Ensembl |
|
|
CA3493517 rs768220433 |
546 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3493516 rs374056960 |
547 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3493514 rs771854528 |
549 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581167325 CA361638359 |
549 | V>G | No |
ClinGen Ensembl |
|
|
rs998856637 CA128916814 |
550 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773944258 CA3493513 |
550 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3493512 rs778502005 |
553 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1334226797 CA361638313 |
554 | K>R | No |
ClinGen TOPMed |
|
|
rs756369537 CA3493511 |
555 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755161394 CA3493508 |
557 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1063906 CA3493506 rs766945584 |
558 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375392700 CA361638236 |
562 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs375392700 CA128916736 |
562 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA3493502 rs762162860 |
563 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358675564 CA361638214 |
564 | S>C | No |
ClinGen Ensembl |
|
|
rs763713401 CA3493500 |
567 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3493499 rs760199898 |
567 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14195
1 regional properties for Q14195
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Amidohydrolase-related | 64 - 453 | IPR006680 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| exocytic vesicle | A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| filamentous actin | A two-stranded helical polymer of the protein actin. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| chondroitin sulfate binding | Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc). |
| filamin binding | Binding to a filamin, any member of a family of high molecular mass cytoskeletal proteins that crosslink actin filaments to form networks and stress fibers. Filamins contain an amino-terminal alpha-actinin-like actin binding domain, which is followed by a rod-domain composed of 4 to 24 100-residue repetitive segments including a carboxy-terminal dimerization domain. |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. |
| identical protein binding | Binding to an identical protein or proteins. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin crosslink formation | The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes. |
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| cellular response to cytokine stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| positive regulation of filopodium assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| response to axon injury | 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 an axon injury stimulus. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90635 | DPYSL2 | Dihydropyrimidinase-related protein 2 | Gallus gallus (Chicken) | PR |
| Q14194 | CRMP1 | Dihydropyrimidinase-related protein 1 | Homo sapiens (Human) | PR |
| Q16555 | DPYSL2 | Dihydropyrimidinase-related protein 2 | Homo sapiens (Human) | PR |
| O08553 | Dpysl2 | Dihydropyrimidinase-related protein 2 | Mus musculus (Mouse) | PR |
| P97427 | Crmp1 | Dihydropyrimidinase-related protein 1 | Mus musculus (Mouse) | PR |
| Q62188 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Mus musculus (Mouse) | PR |
| P47942 | Dpysl2 | Dihydropyrimidinase-related protein 2 | Rattus norvegicus (Rat) | PR |
| Q62952 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Rattus norvegicus (Rat) | PR |
| Q9FMP3 | PYD2 | Dihydropyrimidinase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6GL72 | dpysl3 | Dihydropyrimidinase-related protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSYQGKKNIP | RITSDRLLIK | GGRIVNDDQS | FYADIYMEDG | LIKQIGDNLI | VPGGVKTIEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGKMVIPGGI | DVHTHFQMPY | KGMTTVDDFF | QGTKAALAGG | TTMIIDHVVP | EPESSLTEAY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKWREWADGK | SCCDYALHVD | ITHWNDSVKQ | EVQNLIKDKG | VNSFMVYMAY | KDLYQVSNTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYEIFTCLGE | LGAIAQVHAE | NGDIIAQEQT | RMLEMGITGP | EGHVLSRPEE | LEAEAVFRAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TIASQTNCPL | YVTKVMSKSA | ADLISQARKK | GNVVFGEPIT | ASLGIDGTHY | WSKNWAKAAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVTSPPLSPD | PTTPDYINSL | LASGDLQLSG | SAHCTFSTAQ | KAIGKDNFTA | IPEGTNGVEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RMSVIWDKAV | ATGKMDENQF | VAVTSTNAAK | IFNLYPRKGR | ISVGSDSDLV | IWDPDAVKIV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SAKNHQSAAE | YNIFEGMELR | GAPLVVICQG | KIMLEDGNLH | VTQGAGRFIP | CSPFSDYVYK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RIKARRKMAD | LHAVPRGMYD | GPVFDLTTTP | KGGTPAGSAR | GSPTRPNPPV | RNLHQSGFSL |
| 550 | 560 | ||||
| SGTQVDEGVR | SASKRIVAPP | GGRSNITSLS |