Q16555
PR
Gene name |
DPYSL2 (CRMP2, ULIP2) |
Protein name |
Dihydropyrimidinase-related protein 2 |
Names |
DRP-2, Collapsin response mediator protein 2, CRMP-2, N2A3, Unc-33-like phosphoprotein 2, ULIP-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1808 |
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
16 structures for Q16555
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2GSE | X-ray | 240 A | A/B/C/D | 13-490 | PDB |
| 2VM8 | X-ray | 190 A | A/B/C/D | 13-490 | PDB |
| 5LXX | X-ray | 125 A | A/B | 13-490 | PDB |
| 5MKV | X-ray | 180 A | A/B/C/D | 13-516 | PDB |
| 5MLE | X-ray | 248 A | A/C | 13-516 | PDB |
| 5X1A | X-ray | 182 A | A | 1-525 | PDB |
| 5X1C | X-ray | 210 A | A/B | 13-490 | PDB |
| 5X1D | X-ray | 220 A | A | 1-525 | PDB |
| 5YZ5 | X-ray | 180 A | A | 1-525 | PDB |
| 5YZA | X-ray | 230 A | A | 1-525 | PDB |
| 5YZB | X-ray | 280 A | A | 1-525 | PDB |
| 6JV9 | X-ray | 226 A | A/B/C/D | 1-532 | PDB |
| 6JVB | X-ray | 200 A | A/B/C/D | 1-532 | PDB |
| 7X68 | X-ray | 180 A | A | 1-525 | PDB |
| 8DNM | EM | 276 A | A/B/C/D | 1-572 | PDB |
| AF-Q16555-F1 | Predicted | AlphaFoldDB |
278 variants for Q16555
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000210724 CA358249 rs138340807 |
14 | S>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA370792699 rs1330124540 |
2 | S>P | No |
ClinGen TOPMed |
|
|
rs1474857182 CA370792718 |
4 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 8 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295902606 CA370783552 |
16 | R>C | No |
ClinGen gnomAD |
|
|
COSM1456302 CA4686331 rs765937076 |
16 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370783550 rs1295902606 |
16 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4686333 rs754950124 |
27 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA370783637 rs1310509975 |
29 | Q>K | No |
ClinGen gnomAD |
|
|
CA370783648 rs1212338896 |
30 | S>L | No |
ClinGen gnomAD |
|
|
CA370783662 rs1483556622 |
32 | Y>C | No |
ClinGen gnomAD |
|
|
rs1049989995 CA174156913 |
32 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1483556622 CA370783663 |
32 | Y>S | No |
ClinGen gnomAD |
|
|
rs1057003691 CA174156920 |
33 | A>V | No |
ClinGen Ensembl |
|
|
CA370783696 rs1245945687 |
37 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 38 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 47 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370783861 rs1294402013 |
53 | G>E | No |
ClinGen gnomAD |
|
|
COSM1098537 CA174157833 rs979527383 |
59 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA370783902 rs1408084226 |
60 | A>T | No |
ClinGen gnomAD |
|
|
CA4686361 rs780225412 |
63 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370783922 rs1331172856 |
63 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770699723 CA4686366 |
72 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370783994 rs1179404748 |
74 | T>S | No |
ClinGen gnomAD |
|
|
CA370783998 rs1254529235 |
74 | T>S | No |
ClinGen gnomAD |
|
|
rs774132967 CA4686367 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759388658 CA4686368 |
75 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA370784026 rs1165761539 |
78 | M>I | No |
ClinGen TOPMed |
|
|
CA370784025 rs1411859321 |
78 | M>K | No |
ClinGen TOPMed |
|
|
CA174157851 rs950220319 |
79 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 79 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397645506 CA370784040 |
80 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370784047 rs1314297736 |
81 | Q>L | No |
ClinGen gnomAD |
|
|
rs1563396796 CA370784062 |
83 | M>I | No |
ClinGen Ensembl |
|
|
rs367626082 CA4686370 |
84 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA174157883 rs959002090 |
90 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201913640 CA4686372 |
91 | Q>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs113269672 CA174157891 COSM1552537 |
91 | Q>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4686377 rs758882265 |
101 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747548263 CA4686379 CA4686380 |
103 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754758411 CA4686378 |
103 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686381 rs781142318 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA370790661 rs1483669075 |
105 | I>T | No |
ClinGen gnomAD |
|
|
rs1307809051 CA370784198 |
105 | I>V | No |
ClinGen TOPMed |
|
|
CA370790683 rs1468803168 |
108 | V>A | No |
ClinGen Ensembl |
|
|
CA4686398 rs752044385 |
108 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4686400 rs755441240 |
109 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4686399 rs755441240 |
109 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4686402 rs756262944 |
111 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs566026853 CA4686403 |
112 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370790728 rs749538285 |
116 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300413467 CA370790733 |
117 | L>V | No |
ClinGen TOPMed |
|
|
RCV000879604 VAR_022016 rs2228979 CA4686407 |
118 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs768465354 CA4686408 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4686409 rs776680487 |
121 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA370790764 rs1563414624 |
122 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 122 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370790778 rs1337379432 |
123 | W>C | No |
ClinGen gnomAD |
|
|
CA174189062 rs911823564 |
128 | D>E | No |
ClinGen gnomAD |
|
|
CA174189056 rs964924226 |
128 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4686412 rs772949817 |
133 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA370790873 rs1563414655 |
136 | S>C | No |
ClinGen Ensembl |
|
|
rs762706796 CA4686413 |
142 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs944338659 CA174189083 |
142 | S>I | No |
ClinGen Ensembl |
|
|
rs327222 CA370790914 |
142 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1268122212 CA370790921 |
143 | E>D | No |
ClinGen gnomAD |
|
|
CA4686416 rs375324837 |
145 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370790939 rs1210981767 |
146 | K>Q | No |
ClinGen gnomAD |
|
|
rs556742799 CA174189125 |
154 | A>P | No |
ClinGen Ensembl |
|
|
rs199507729 CA174189127 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs1030864806 CA174189132 |
156 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370791036 rs1174455238 |
159 | H>R | No |
ClinGen TOPMed |
|
|
CA370791040 rs1411171367 |
160 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 161 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201524959 CA174191069 |
162 | N>S | No |
ClinGen Ensembl |
|
|
rs1308423747 CA370791091 COSM184147 |
166 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM150474 rs750688878 CA174191093 |
169 | A>D | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750688878 CA4686442 |
169 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370791117 rs750688878 |
169 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370388171 CA4686443 |
170 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4686444 rs781052884 |
173 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4686445 rs111686178 |
173 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4686447 rs202167869 |
177 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4686449 rs770602159 |
179 | C>G | No |
ClinGen ExAC |
|
|
CA370791190 rs1329363350 |
180 | Q>R | No |
ClinGen TOPMed |
|
|
CA174191542 rs866871244 |
183 | E>G | No |
ClinGen Ensembl |
|
|
CA4686469 rs771744340 |
184 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370791261 rs1434830669 |
189 | R>Q | No |
ClinGen gnomAD |
|
|
rs1407296629 CA370791260 |
189 | R>W | No |
ClinGen gnomAD |
|
|
CA4686473 rs143980725 |
193 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM454361 CA4686472 rs143980725 |
193 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA174191582 rs866151312 |
199 | A>E | No |
ClinGen Ensembl |
|
|
rs765160936 COSM1098540 CA4686475 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1323921917 CA370791354 |
203 | D>G | No |
ClinGen gnomAD |
|
|
rs762997682 CA4686477 COSM1098541 |
203 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA370791357 rs1245776411 |
204 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4686480 rs760503319 |
206 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4686481 rs371995941 |
207 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4686501 rs761564129 |
208 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4686503 rs181560878 |
214 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757877710 CA4686504 |
218 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686509 rs748521284 |
223 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771070678 CA4686513 |
227 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759749902 CA174192100 |
228 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686515 rs759749902 |
228 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686514 rs774573172 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA174195217 rs112794605 |
231 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 232 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 232 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273538485 CA370791570 |
233 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267866029 CA370791607 |
238 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA174195227 rs970694512 |
239 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4686557 rs540612356 |
240 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370791622 rs1446362700 |
241 | T>A | No |
ClinGen TOPMed |
|
|
rs1207114764 CA370791625 |
241 | T>S | No |
ClinGen gnomAD |
|
|
CA370791634 rs1451047756 COSM300049 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4686559 rs373662465 |
244 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4686560 rs774852669 |
246 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs565567744 CA174195237 |
247 | N>S | No |
ClinGen Ensembl |
|
|
rs113429984 CA174195249 |
255 | V>G | No |
ClinGen Ensembl |
|
|
rs1451369749 CA370791721 |
256 | M>L | No |
ClinGen gnomAD |
|
|
rs1159884667 CA370791732 |
257 | S>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs920061983 CA174195253 |
258 | K>T | No |
ClinGen Ensembl |
|
|
rs1192454097 CA370791749 |
259 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758968723 CA4686567 |
264 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4686569 rs751569597 |
265 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686570 rs751569597 |
265 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235948019 CA370791787 |
265 | A>V | No |
ClinGen TOPMed |
|
|
CA370791788 rs1414993061 |
266 | Q>K | No |
ClinGen gnomAD |
|
|
CA174195273 rs944330260 |
267 | A>G | No |
ClinGen Ensembl |
|
|
CA4686571 rs148064770 |
267 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM184158 rs1334281681 CA370791801 |
268 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4686572 rs748387219 |
269 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406197337 CA370791837 |
272 | T>A | No |
ClinGen TOPMed |
|
|
CA4686595 rs746980657 |
273 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4686598 rs747717094 |
280 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1169067198 CA370791896 |
281 | A>D | No |
ClinGen gnomAD |
|
|
rs1463967670 CA370791895 |
281 | A>S | No |
ClinGen gnomAD |
|
|
CA370791916 rs1401862526 |
284 | G>R | No |
ClinGen gnomAD |
|
|
CA4686599 rs199869101 |
285 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370791931 rs138088405 |
286 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149525532 CA4686603 |
289 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229509463 CA370791961 |
291 | W>R | No |
ClinGen gnomAD |
|
|
rs372408415 CA4686604 |
292 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756229425 CA4686607 |
298 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs375095984 CA4686609 |
303 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370792047 rs375095984 |
303 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259051616 CA370792070 |
307 | L>V | No |
ClinGen gnomAD |
|
|
rs777753654 CA174198548 |
312 | T>S | No |
ClinGen Ensembl |
|
|
rs1377582691 CA370792146 |
318 | N>S | No |
ClinGen gnomAD |
|
|
rs746848520 CA174198557 |
320 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754954889 CA4686613 |
322 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1225276883 CA370792807 |
325 | D>E | No |
ClinGen gnomAD |
|
|
CA4686637 rs377401059 |
328 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144132241 CA4686639 |
332 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370792859 rs772452285 |
333 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370792870 rs1383391877 |
335 | T>A | No |
ClinGen gnomAD |
|
|
rs1426641738 CA370792874 |
335 | T>M | No |
ClinGen gnomAD |
|
|
CA4686644 rs769218672 |
343 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370792971 rs1302645615 |
349 | T>I | No |
ClinGen TOPMed |
|
|
CA4686648 rs750639372 |
353 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4686650 rs564835418 |
356 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370793049 rs1307393102 |
361 | R>P | No |
ClinGen gnomAD |
|
|
CA4686652 rs756113509 |
364 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753360620 CA4686654 |
365 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4686653 rs777627888 |
365 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1563424654 CA370793073 |
365 | I>V | No |
ClinGen Ensembl |
|
|
rs756751849 CA4686655 |
369 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1428067834 CA370793135 |
372 | T>S | No |
ClinGen gnomAD |
|
|
CA370793157 rs1251960347 |
375 | M>I | No |
ClinGen TOPMed |
|
|
CA4686683 rs773416625 |
382 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA370793205 rs773416625 |
382 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1326188478 CA370793209 |
382 | A>V | No |
ClinGen gnomAD |
|
|
rs1585572424 CA370793215 |
383 | V>G | No |
ClinGen Ensembl |
|
|
rs749433807 CA4686684 |
385 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4686685 rs771254241 |
387 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238979105 CA370793247 |
388 | A>V | No |
ClinGen TOPMed |
|
|
rs760501216 CA4686687 |
389 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4686688 rs572145087 |
390 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1211190676 CA370793267 |
392 | F>V | No |
ClinGen Ensembl |
|
|
rs761652144 CA4686690 |
393 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370793290 rs1585572488 |
395 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 396 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174163375 rs1028123682 |
397 | R>Q | No |
ClinGen Ensembl |
|
|
CA174163383 rs141721547 |
398 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4686691 rs765277758 |
400 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172753323 CA370793320 |
400 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1443293185 CA370793342 |
404 | G>R | No |
ClinGen TOPMed |
|
|
rs751234188 CA4686695 |
408 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs374560992 CA174163464 |
411 | I>M | No |
ClinGen Ensembl |
|
|
CA4686696 rs755311140 |
413 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4686698 rs748609195 |
414 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915186717 CA174163471 |
415 | D>N | No |
ClinGen TOPMed |
|
|
CA4686701 rs151050891 |
416 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771160273 COSM170367 CA4686702 |
417 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4686703 rs774661088 |
419 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs927656713 CA174163506 |
420 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 422 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394168325 CA370793462 |
422 | A>V | No |
ClinGen TOPMed |
|
|
CA370793525 rs1444629367 |
430 | E>K | No |
ClinGen gnomAD |
|
|
rs548249708 CA4686721 |
433 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 436 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174167016 rs1019542311 |
437 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4686722 rs779134278 |
440 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4686723 rs183264279 |
440 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4686725 rs780365778 |
441 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029275831 CA174167110 |
442 | S>C | No |
ClinGen Ensembl |
|
|
CA370793681 rs1183468885 |
452 | I>M | No |
ClinGen gnomAD |
|
|
rs1051243615 CA174167119 |
457 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773074145 CA370793718 |
458 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4686728 rs773074145 |
458 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161095519 CA370793716 |
458 | T>S | No |
ClinGen gnomAD |
|
|
rs202069123 CA174167137 |
459 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4686729 rs150919651 |
460 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370793741 rs1305763042 |
462 | T>I | No |
ClinGen TOPMed |
|
|
CA370793742 rs1394700763 |
463 | E>K | No |
ClinGen gnomAD |
|
|
CA4686731 COSM1313956 rs773717246 |
467 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370793782 rs1332249896 |
469 | I>V | No |
ClinGen gnomAD |
|
|
CA370793790 rs1382271023 |
470 | P>S | No |
ClinGen gnomAD |
|
|
rs1382271023 CA370793788 |
470 | P>T | No |
ClinGen gnomAD |
|
|
CA4686732 rs759131482 |
471 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4686733 rs149863847 |
475 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375653855 CA4686734 |
478 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_036316 rs1337153084 CA370793864 COSM33152 |
481 | R>C | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA4686736 rs764560894 |
486 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4686737 rs754322273 |
487 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479667292 CA370793949 |
492 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370793952 rs1178789039 |
493 | G>R | No |
ClinGen gnomAD |
|
|
CA370793960 rs1409244045 |
494 | V>I | No |
ClinGen TOPMed |
|
|
rs1359995029 CA370793966 |
495 | P>S | No |
ClinGen gnomAD |
|
|
rs750964772 CA4686759 |
496 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370793974 rs1287171299 |
496 | R>H | No |
ClinGen gnomAD |
|
|
CA4686761 rs766481686 |
499 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1408588009 CA370794008 |
502 | P>A | No |
ClinGen Ensembl |
|
|
CA4686764 rs781441381 |
503 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370794026 rs1489405626 |
505 | E>K | No |
ClinGen TOPMed |
|
|
rs374825617 CA174167932 |
509 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4686766 rs374825617 COSM1456306 |
509 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1456307 CA174167949 rs1017213931 |
513 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1489949166 CA370794098 |
516 | A>V | No |
ClinGen gnomAD |
|
|
rs775052717 CA4686770 |
518 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174167956 rs867902571 |
519 | A>T | No |
ClinGen Ensembl |
|
|
CA370794128 rs1283012689 |
521 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA370794162 rs1370306152 |
526 | Q>H | No |
ClinGen TOPMed |
|
|
CA370794177 rs1157284553 |
529 | P>S | No |
ClinGen gnomAD |
|
|
CA4686773 rs776457925 |
530 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1477368874 CA370794187 |
530 | P>L | No |
ClinGen gnomAD |
|
|
rs1159128347 CA370794208 |
534 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 545 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764273577 CA4686805 |
546 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4686806 rs764273577 |
546 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780095087 CA4686808 |
549 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370794342 rs1303581729 |
552 | R>C | No |
ClinGen TOPMed |
|
|
rs1183472634 CA370794344 |
552 | R>H | No |
ClinGen gnomAD |
|
|
CA370794346 rs1183472634 |
552 | R>L | No |
ClinGen gnomAD |
|
|
CA370794393 rs1359471218 |
557 | R>C | No |
ClinGen TOPMed |
|
|
rs1431222466 CA370794421 |
559 | V>M | No |
ClinGen TOPMed |
|
|
rs1168238219 CA370794432 |
560 | A>T | No |
ClinGen gnomAD |
|
|
rs1402271860 CA370794442 |
560 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370794448 rs1335681733 |
561 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370794457 rs1396948793 |
562 | P>S | No |
ClinGen TOPMed |
|
|
CA370794467 rs1449615240 |
563 | G>S | No |
ClinGen gnomAD |
|
|
CA370794497 rs1285262006 |
565 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370794544 rs868630349 |
569 | T>I | No |
ClinGen gnomAD |
|
|
CA174170236 rs868630349 |
569 | T>N | No |
ClinGen gnomAD |
No associated diseases with Q16555
1 regional properties for Q16555
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Amidohydrolase-related | 64 - 453 | IPR006680 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| dihydropyrimidinase activity | Catalysis of the reaction: 5,6-dihydrouracil + H2O = 3-ureidopropionate. |
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| nucleobase-containing compound metabolic process | Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. |
| regulation of axon extension | Any process that modulates the rate, direction or extent of axon extension. |
| regulation of neuron differentiation | Any process that modulates the frequency, rate or extent of neuron differentiation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90635 | DPYSL2 | Dihydropyrimidinase-related protein 2 | Gallus gallus (Chicken) | PR |
| Q14195 | DPYSL3 | Dihydropyrimidinase-related protein 3 | Homo sapiens (Human) | PR |
| Q14194 | CRMP1 | Dihydropyrimidinase-related protein 1 | Homo sapiens (Human) | PR |
| Q62188 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Mus musculus (Mouse) | PR |
| P97427 | Crmp1 | Dihydropyrimidinase-related protein 1 | Mus musculus (Mouse) | PR |
| O08553 | Dpysl2 | Dihydropyrimidinase-related protein 2 | Mus musculus (Mouse) | PR |
| Q62952 | Dpysl3 | Dihydropyrimidinase-related protein 3 | Rattus norvegicus (Rat) | PR |
| P47942 | Dpysl2 | Dihydropyrimidinase-related protein 2 | 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 | GGKIVNDDQS | FYADIYMEDG | LIKQIGENLI | VPGGVKTIEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HSRMVIPGGI | DVHTRFQMPD | QGMTSADDFF | QGTKAALAGG | TTMIIDHVVP | EPGTSLLAAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DQWREWADSK | SCCDYSLHVD | ISEWHKGIQE | EMEALVKDHG | VNSFLVYMAF | KDRFQLTDCQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IYEVLSVIRD | IGAIAQVHAE | NGDIIAEEQQ | RILDLGITGP | EGHVLSRPEE | VEAEAVNRAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TIANQTNCPL | YITKVMSKSS | AEVIAQARKK | GTVVYGEPIT | ASLGTDGSHY | WSKNWAKAAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVTSPPLSPD | PTTPDFLNSL | LSCGDLQVTG | SAHCTFNTAQ | KAVGKDNFTL | IPEGTNGTEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RMSVIWDKAV | VTGKMDENQF | VAVTSTNAAK | VFNLYPRKGR | IAVGSDADLV | IWDPDSVKTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SAKTHNSSLE | YNIFEGMECR | GSPLVVISQG | KIVLEDGTLH | VTEGSGRYIP | RKPFPDFVYK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RIKARSRLAE | LRGVPRGLYD | GPVCEVSVTP | KTVTPASSAK | TSPAKQQAPP | VRNLHQSGFS |
| 550 | 560 | 570 | |||
| LSGAQIDDNI | PRRTTQRIVA | PPGGRANITS | LG |