Q16526
PR
Gene name |
CRY1 (PHLL1) |
Protein name |
Cryptochrome-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1407 |
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 Q16526
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16526-F1 | Predicted | AlphaFoldDB |
398 variants for Q16526
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1006046777 CA243653753 |
2 | G>E | No |
ClinGen TOPMed |
|
|
rs755426599 CA6764431 |
3 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755426599 CA386511562 |
3 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs755426599 CA386511561 |
3 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766372280 CA6764429 |
6 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6764428 rs763068452 |
7 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6764426 rs760589136 |
9 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386511522 rs1468388855 |
9 | F>Y | No |
ClinGen TOPMed |
|
|
CA6764424 rs775403882 |
10 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386511517 rs1407483097 |
10 | R>L | No |
ClinGen gnomAD |
|
|
rs1407483097 CA386511516 |
10 | R>Q | No |
ClinGen gnomAD |
|
|
CA243653739 rs150987851 |
12 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA386511488 rs1467923390 |
15 | L>F | No |
ClinGen gnomAD |
|
|
CA386511485 rs1268702529 |
15 | L>P | No |
ClinGen gnomAD |
|
|
CA6764420 rs770364235 |
16 | H>R | No |
ClinGen ExAC |
|
|
rs141310030 CA386511476 |
17 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141310030 CA6764418 |
17 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927984821 CA386511466 |
18 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA243653655 rs927984821 |
18 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769410958 CA6764417 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA243653630 rs956234346 |
20 | A>S | No |
ClinGen TOPMed |
|
|
CA386511458 rs956234346 |
20 | A>T | No |
ClinGen TOPMed |
|
|
CA243653625 rs1046591399 |
20 | A>V | No |
ClinGen TOPMed |
|
|
CA6764413 rs752019563 |
23 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1332306632 CA386511430 |
24 | C>F | No |
ClinGen TOPMed |
|
|
rs968138971 CA243653596 |
24 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386511427 rs780562361 |
25 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386511422 rs1345024912 |
25 | I>M | No |
ClinGen gnomAD |
|
|
CA6764411 rs780562361 |
25 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147810438 CA6764409 |
26 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6764410 rs758583418 |
26 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6764408 rs371285144 |
28 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386511407 rs1450195605 |
28 | A>V | No |
ClinGen gnomAD |
|
|
rs1023325613 CA386511397 |
29 | D>E | No |
ClinGen TOPMed |
|
|
rs1188252822 CA386511396 |
30 | T>P | No |
ClinGen gnomAD |
|
|
rs201633344 CA386511385 |
31 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200691319 CA6764406 |
31 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386511381 rs1349527631 |
32 | R>L | No |
ClinGen gnomAD |
|
|
rs1445328102 CA386511367 |
34 | V>D | No |
ClinGen TOPMed |
|
|
CA386511369 rs1232873760 |
34 | V>I | No |
ClinGen gnomAD |
|
|
CA6764404 rs759321847 |
35 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764402 rs770819741 |
36 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772692853 CA6764400 |
39 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs144297450 CA243653562 |
39 | P>S | No |
ClinGen ESP |
|
|
rs1392158230 CA386511294 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA386511289 rs1172430877 |
46 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs576802813 CA6764395 |
50 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780465773 CA6764394 |
51 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243274078 rs959279225 |
58 | C>* | No |
ClinGen Ensembl |
|
|
CA243274076 rs1034031760 |
60 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6764376 rs747384061 |
64 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1336535617 CA386411468 |
64 | A>V | No |
ClinGen gnomAD |
|
|
CA6764375 rs775911601 |
65 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943479936 CA243274038 |
66 | L>R | No |
ClinGen TOPMed |
|
|
CA6764374 rs772775637 |
67 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764373 rs148614240 |
67 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779509389 CA6764372 |
69 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757438891 CA6764371 |
72 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749352967 CA6764370 |
72 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1365145762 CA386411315 |
77 | R>C | No |
ClinGen gnomAD |
|
|
rs200714794 CA6764369 |
77 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386411264 rs1196051778 |
82 | D>N | No |
ClinGen gnomAD |
|
|
CA386411248 rs1467475477 |
83 | V>G | No |
ClinGen gnomAD |
|
|
CA386411221 rs1027118019 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs1209708092 CA386411220 |
87 | L>H | No |
ClinGen gnomAD |
|
|
CA243273842 rs1027118019 |
87 | L>I | No |
ClinGen gnomAD |
|
|
rs1209708092 CA386411219 |
87 | L>P | No |
ClinGen gnomAD |
|
|
CA386411203 rs1353338057 |
89 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386411201 rs1353338057 |
89 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA243254803 rs149378103 |
90 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243254798 rs973991991 |
92 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6764347 rs566787463 |
96 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs781342924 CA6764346 |
98 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386407607 rs1175169210 |
99 | E>A | No |
ClinGen gnomAD |
|
|
CA6764345 rs758219805 |
100 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs750188442 CA6764344 |
101 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386407521 rs1363961320 |
104 | P>L | No |
ClinGen gnomAD |
|
|
CA386407493 rs1371859618 |
107 | K>R | No |
ClinGen gnomAD |
|
|
CA386407481 rs1486223747 |
108 | E>D | No |
ClinGen gnomAD |
|
|
CA6764341 rs753357985 |
108 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386407478 rs1259842473 |
109 | R>* | No |
ClinGen gnomAD |
|
|
CA386407472 rs1209060308 |
109 | R>Q | No |
ClinGen gnomAD |
|
|
rs760048225 CA6764339 |
111 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243254766 rs139954760 |
118 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6764338 rs139954760 |
118 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386407321 rs1341316232 |
120 | A>G | No |
ClinGen gnomAD |
|
|
CA6764336 rs760023300 |
121 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs774839069 CA6764335 |
123 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386407263 rs1412613683 COSM934486 |
125 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs546950305 CA6764334 |
125 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 127 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386407240 rs1194712676 |
128 | I>L | No |
ClinGen gnomAD |
|
|
rs763517034 CA6764333 |
128 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs146148805 CA243254717 |
130 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs1206920162 CA386407063 |
137 | K>R | No |
ClinGen gnomAD |
|
|
CA6764298 rs747723491 |
139 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA6764299 rs756103325 |
139 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780703517 CA6764296 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751277051 CA6764295 |
143 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386405958 rs78310335 |
144 | G>E | No |
ClinGen gnomAD |
|
|
rs78310335 CA243252518 |
144 | G>V | No |
ClinGen gnomAD |
|
|
CA6764293 rs373266096 |
146 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373266096 CA386405926 |
146 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765830354 CA6764291 |
148 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA243252496 rs563510342 |
150 | Y>F | No |
ClinGen 1000Genomes |
|
|
rs1488030034 CA386405869 |
151 | K>E | No |
ClinGen gnomAD |
|
|
CA386405859 rs1242559137 |
151 | K>R | No |
ClinGen gnomAD |
|
|
CA6764290 rs762303771 |
153 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs369670988 CA6764289 |
154 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764174057 CA6764288 |
155 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243252489 rs1026251194 |
156 | L>V | No |
ClinGen gnomAD |
|
|
rs376301618 CA6764286 |
157 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376301618 CA6764287 |
157 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6764285 rs139681164 |
158 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209490269 CA386405707 |
160 | M>T | No |
ClinGen TOPMed |
|
|
rs1566242382 CA386405698 |
161 | E>Q | No |
ClinGen Ensembl |
|
|
CA6764283 rs772873490 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6764282 rs769641906 |
167 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA386405609 rs1268651872 |
169 | T>A | No |
ClinGen TOPMed |
|
|
CA386405604 rs1436633707 |
169 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6764278 rs372247366 |
170 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754563823 CA6764279 |
170 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779805012 CA6764277 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757973694 CA6764276 |
175 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA243252430 rs756982389 |
176 | E>G | No |
ClinGen Ensembl |
|
|
CA6764275 rs201634474 |
179 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184965948 CA6764274 |
180 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261982967 CA386405421 |
181 | P>L | No |
ClinGen gnomAD |
|
|
CA386405393 rs1566242322 |
184 | D>G | No |
ClinGen Ensembl |
|
|
CA6764272 rs757561706 |
186 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1277486044 CA386405374 |
186 | H>R | No |
ClinGen gnomAD |
|
|
CA386405355 rs1308548225 |
187 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6764271 rs754367786 |
187 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1298408842 CA386405343 |
188 | E>D | No |
ClinGen gnomAD |
|
|
rs1340348892 CA386405306 |
191 | G>A | No |
ClinGen gnomAD |
|
|
CA386405302 rs1294118816 |
192 | V>I | No |
ClinGen gnomAD |
|
|
CA386405276 rs1416930614 |
194 | S>* | No |
ClinGen gnomAD |
|
|
rs1593494697 CA386405274 |
195 | L>V | No |
ClinGen Ensembl |
|
|
rs146335177 CA243252406 |
196 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs146335177 CA386405269 |
196 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 200 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757651822 CA6764251 |
200 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1415167088 COSM1358459 CA386405128 |
201 | D>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6764249 rs756570257 |
203 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6764250 rs754173809 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756570257 CA6764248 |
203 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs753176949 CA6764247 |
206 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274380642 CA386405026 |
208 | A>T | No |
ClinGen gnomAD |
|
|
rs1000662935 CA243252031 |
209 | V>A | No |
ClinGen TOPMed |
|
|
rs1207204981 CA386405012 |
209 | V>M | No |
ClinGen TOPMed |
|
|
rs1593494294 CA386404973 |
210 | W>* | No |
ClinGen Ensembl |
|
|
rs751759108 CA6764244 |
212 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6764241 rs776553940 |
213 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243252018 rs976686389 |
215 | T>A | No |
ClinGen TOPMed |
|
|
rs773978446 CA243252016 |
216 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6764239 rs760534685 |
217 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs773879688 CA6764240 |
217 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368388382 CA6764237 |
219 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745345562 CA6764236 |
220 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745345562 CA386404740 |
220 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764235 rs778579222 |
220 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770551812 CA6764234 |
222 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334371024 CA386404705 |
223 | R>G | No |
ClinGen TOPMed |
|
|
rs1417804049 CA386404535 |
227 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 227 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486035835 CA386404148 |
230 | W>* | No |
ClinGen gnomAD |
|
|
rs377750715 CA6764208 |
234 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369511480 CA6764207 |
238 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369511480 CA386404019 |
238 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008951536 CA386404016 |
238 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA243250641 COSM1510817 rs1008951536 |
238 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA386404008 rs1227853181 |
239 | M>R | No |
ClinGen gnomAD |
|
|
CA386403939 COSM266309 rs1328030847 |
241 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1412289095 CA386403906 |
247 | S>G | No |
ClinGen gnomAD |
|
|
CA386403898 rs1402080748 |
248 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386403893 rs1169047930 |
249 | T>A | No |
ClinGen gnomAD |
|
|
rs758751181 CA6764204 |
252 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765396424 CA243250626 |
253 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765396424 CA6764202 |
253 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755962786 CA6764201 |
254 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs767156491 COSM1179653 CA6764199 |
256 | R>* | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs149558160 CA6764198 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6764195 rs762637840 |
259 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774316934 CA6764197 |
259 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6764196 rs762637840 |
259 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764194 rs772672291 |
260 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386403812 rs1341207423 |
262 | C>F | No |
ClinGen gnomAD |
|
|
rs1309301533 COSM177018 CA386403809 |
263 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA386403808 rs1309301533 |
263 | R>G | No |
ClinGen TOPMed |
|
|
rs1242744354 CA386403801 |
264 | L>P | No |
ClinGen TOPMed |
|
|
CA386403784 rs1255846425 |
266 | Y>H | No |
ClinGen gnomAD |
|
|
rs372857326 CA243250533 |
267 | F>S | No |
ClinGen ESP |
|
|
CA6764192 rs138102124 |
268 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386403741 rs1292624768 |
270 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6764191 rs575093808 |
272 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386403700 rs1254651211 |
273 | Y>C | No |
ClinGen TOPMed |
|
|
CA386403701 rs1254651211 |
273 | Y>S | No |
ClinGen TOPMed |
|
|
CA386403587 COSM934484 rs1375279642 |
278 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386403561 rs1331311481 |
280 | S>C | No |
ClinGen gnomAD |
|
|
rs1442074916 CA386403520 |
281 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386403490 rs1404917922 |
284 | L>F | No |
ClinGen gnomAD |
|
|
rs769263044 CA6764171 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437945851 CA386403411 |
288 | G>E | No |
ClinGen gnomAD |
|
|
rs998984795 CA243250324 |
289 | Q>* | No |
ClinGen Ensembl |
|
|
rs775955499 CA6764168 |
293 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1358454 rs772585429 CA6764167 |
293 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746026335 CA6764166 |
295 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6764162 rs748899531 |
301 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754873158 CA6764160 |
301 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754873158 CA6764161 |
301 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1394318099 CA386403061 |
304 | P>S | No |
ClinGen gnomAD |
|
|
rs199643186 CA243250284 |
305 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774995797 CA6764159 COSM3398297 |
305 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs949014965 CA243250276 |
311 | G>E | No |
ClinGen Ensembl |
|
|
CA386402753 rs1185066980 |
316 | V>F | No |
ClinGen TOPMed |
|
|
CA243250271 rs867305529 |
324 | P>S | No |
ClinGen Ensembl |
|
|
CA6764156 rs758195213 |
325 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6764157 rs779768974 |
325 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750253219 CA6764155 |
326 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6764154 rs764929786 |
328 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386402504 rs1174340961 |
328 | A>V | No |
ClinGen gnomAD |
|
|
CA6764153 rs761421114 |
329 | K>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1238597 CA6764151 rs763726526 |
331 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA386402430 rs1242319573 |
332 | E>K | No |
ClinGen gnomAD |
|
|
rs1054826535 CA243250214 |
333 | G>S | No |
ClinGen Ensembl |
|
|
rs776151812 CA6764149 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386402365 rs1218416992 |
334 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 342 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433090603 CA386402166 |
343 | I>T | No |
ClinGen TOPMed |
|
|
rs1347119931 CA386402176 |
343 | I>V | No |
ClinGen TOPMed |
|
|
CA386402130 rs1234850572 |
345 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1299866641 CA386402104 |
347 | L>I | No |
ClinGen gnomAD |
|
|
rs749506981 CA6764144 COSM266308 |
348 | R>C | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM934482 CA6764143 rs147813518 |
348 | R>H | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749506981 CA6764145 |
348 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764142 rs769879178 |
349 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6764141 rs746884703 |
350 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6764140 rs779963529 |
353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436692792 CA386401932 |
355 | H>D | No |
ClinGen gnomAD |
|
|
CA386401925 rs1360797329 |
355 | H>R | No |
ClinGen gnomAD |
|
|
rs372884478 CA6764138 |
363 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386401775 rs1420048760 |
364 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753452380 CA6764136 COSM145269 |
367 | R>* | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs376469578 CA6764134 |
367 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210111041 CA386401636 |
372 | I>M | No |
ClinGen gnomAD |
|
|
CA386401641 rs1312777577 |
372 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386401576 rs1308599909 |
375 | E>D | No |
ClinGen gnomAD |
|
|
rs1260330616 CA607600006 |
376 | E>* | No |
ClinGen gnomAD |
|
|
CA386401565 rs1217206539 |
376 | E>D | No |
ClinGen gnomAD |
|
|
COSM1188594 rs1318570849 CA386401534 |
378 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6764131 rs145875187 |
378 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6764130 rs760005269 |
379 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA386401517 rs1208262002 |
379 | K>R | No |
ClinGen TOPMed |
|
|
rs942973000 CA243249084 |
383 | E>K | No |
ClinGen TOPMed |
|
|
CA386401378 rs1593491846 |
384 | L>F | No |
ClinGen Ensembl |
|
|
rs1444288959 CA386401359 |
386 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386401357 rs1399353662 |
386 | L>R | No |
ClinGen gnomAD |
|
|
CA386401339 rs1459066128 |
387 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1158429803 CA386401343 |
387 | D>G | No |
ClinGen gnomAD |
|
|
rs766702421 CA6764110 |
387 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766702421 CA386401352 |
387 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243249055 rs911470936 |
391 | S>G | No |
ClinGen TOPMed |
|
|
CA386401263 rs1410371019 |
392 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1256461246 CA386401205 |
395 | G>V | No |
ClinGen TOPMed |
|
|
CA6764107 rs765423740 |
398 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs773626403 CA6764108 |
398 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386401177 rs1252130170 |
398 | M>V | No |
ClinGen gnomAD |
|
|
rs201044685 CA6764105 |
401 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA243248993 rs200099373 |
401 | S>C | No |
ClinGen Ensembl |
|
|
CA6764106 rs201044685 |
401 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs566794487 CA6764101 |
406 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs35271440 | 407 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774157019 CA6764100 |
407 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1458086734 CA386400805 |
408 | Q>R | No |
ClinGen TOPMed |
|
|
CA386400780 rs1469738377 |
411 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386400748 rs1180091948 |
415 | P>L | No |
ClinGen TOPMed |
|
|
rs770965692 COSM1358453 CA6764099 |
417 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6764098 rs749074808 |
419 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243248958 rs749074808 |
419 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386400722 rs1432033889 |
420 | R>K | No |
ClinGen TOPMed |
|
|
CA386400716 rs1198955358 |
421 | R>* | No |
ClinGen TOPMed |
|
|
rs1158349977 CA386400678 |
424 | P>L | No |
ClinGen Ensembl |
|
|
rs200276160 CA6764096 |
425 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6764094 rs780697351 |
428 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764095 rs201128230 |
428 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1361980808 COSM691419 CA386400618 |
429 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386400556 rs1045768316 |
430 | R>S | No |
ClinGen TOPMed |
|
|
COSM1238598 rs769728649 CA6764076 |
431 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs747739478 CA6764075 |
431 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764072 rs746480724 |
433 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA386400497 rs1180689451 |
435 | V>D | No |
ClinGen TOPMed |
|
|
CA386400458 rs1279225991 |
438 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1424800183 CA386400464 |
438 | G>S | No |
ClinGen TOPMed |
|
|
CA6764068 rs779190715 |
440 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750949855 CA6764069 |
440 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319515875 CA386400424 |
441 | A>T | No |
ClinGen gnomAD |
|
|
rs754292766 CA6764066 |
443 | Y>C | No |
ClinGen ExAC |
|
|
rs200755086 CA6764065 |
445 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386400374 rs1398828101 |
447 | P>H | No |
ClinGen gnomAD |
|
|
rs1398828101 CA386400372 |
447 | P>L | No |
ClinGen gnomAD |
|
|
rs761001874 CA6764064 |
450 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386400340 rs1335624823 |
452 | E>A | No |
ClinGen gnomAD |
|
|
rs752685440 CA6764063 |
455 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386400298 rs1301052149 |
458 | A>D | No |
ClinGen TOPMed |
|
|
CA386400296 rs1301052149 |
458 | A>V | No |
ClinGen TOPMed |
|
|
CA6764062 rs767661180 |
461 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243248624 rs975029550 |
462 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs964026981 CA243248614 |
464 | V>D | No |
ClinGen Ensembl |
|
|
CA386400213 rs1239216529 |
470 | M>I | No |
ClinGen gnomAD |
|
|
rs773289655 CA6764059 |
471 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1440579024 CA386400169 |
477 | S>G | No |
ClinGen gnomAD |
|
|
CA386400165 rs1351063757 |
477 | S>N | No |
ClinGen TOPMed |
|
|
rs1365790688 CA386400160 |
478 | R>C | No |
ClinGen Ensembl |
|
|
rs986535328 CA243248596 |
478 | R>H | No |
ClinGen gnomAD |
|
|
CA6764058 rs765335483 |
480 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386400134 rs1255748354 |
482 | E>K | No |
ClinGen gnomAD |
|
|
CA386400125 rs1217712891 |
483 | R>T | No |
ClinGen gnomAD |
|
|
CA6764054 rs746706511 |
486 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1393545119 CA386400080 |
489 | Q>* | No |
ClinGen gnomAD |
|
|
CA243248551 rs771417784 |
489 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 492 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774813766 CA6764053 |
493 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA243248518 rs771583879 |
493 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6764052 rs771583879 |
493 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208602472 CA386400053 |
494 | Y>H | No |
ClinGen TOPMed |
|
|
rs1416258736 CA386400045 |
495 | R>G | No |
ClinGen gnomAD |
|
|
rs1566240005 CA386400043 |
495 | R>K | No |
ClinGen Ensembl |
|
|
CA6764049 rs779386932 |
496 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1219012675 CA386399997 |
501 | A>V | No |
ClinGen gnomAD |
|
|
CA6764028 rs749828393 |
502 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6764027 rs375208356 |
503 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764329499 CA6764025 |
504 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372515742 CA6764023 |
507 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386399934 rs1435947465 |
511 | G>A | No |
ClinGen gnomAD |
|
|
rs1367899329 CA386399917 |
514 | M>V | No |
ClinGen Ensembl |
|
|
CA6764021 rs766600480 |
515 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM546288 CA6764022 rs751659487 |
515 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 516 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243248282 rs376231462 |
519 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386399882 rs376231462 |
519 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA386399842 rs1158368504 |
525 | S>G | No |
ClinGen gnomAD |
|
|
rs1414820934 CA386399835 |
526 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 530 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770266211 CA6764008 |
533 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386399405 rs1449953608 |
538 | H>N | No |
ClinGen TOPMed |
|
|
CA6764005 rs768960350 COSM1238599 |
539 | Y>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1172486474 CA386399375 |
540 | A>T | No |
ClinGen TOPMed |
|
|
rs371268411 CA6764004 |
540 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386399368 rs1162081792 |
541 | H>Y | No |
ClinGen TOPMed |
|
|
CA6764001 rs750532962 |
543 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758508061 CA6764002 |
543 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367739557 CA6764000 |
548 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 553 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458535897 CA386399230 |
553 | G>R | No |
ClinGen gnomAD |
|
|
CA6763983 rs772240717 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA386399141 rs1566238258 |
556 | S>C | No |
ClinGen Ensembl |
|
|
rs1320059996 CA386399147 |
556 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 556 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245075811 CA386399130 |
557 | M>T | No |
ClinGen gnomAD |
|
|
CA6763981 rs778896381 |
557 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6763979 rs780904119 |
559 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6763980 rs756035576 |
559 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6763978 rs780904119 |
559 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6763977 rs754766857 |
561 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6763976 rs751416280 |
562 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA386399057 rs1293809994 |
563 | G>C | No |
ClinGen gnomAD |
|
|
CA243245036 rs112756518 |
566 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6763974 rs758030756 |
567 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377218700 CA6763975 |
567 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386398955 rs1440795741 |
571 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386398954 rs1440795741 |
571 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749909611 CA6763973 |
572 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764675890 CA6763972 |
573 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386398924 rs1566238187 |
573 | T>I | No |
ClinGen Ensembl |
|
|
rs1268305844 CA386398915 |
574 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1593488419 CA386398897 |
577 | G>R | No |
ClinGen Ensembl |
|
|
CA386398891 rs1487632674 |
578 | P>A | No |
ClinGen gnomAD |
|
|
rs948392164 CA243244955 |
578 | P>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 578 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954181640 COSM310336 CA243244930 |
579 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs777283670 CA6763969 |
583 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386398857 rs1288131964 |
583 | Q>R | No |
ClinGen gnomAD |
|
|
rs764763199 CA6763968 |
585 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386398838 rs1335016584 |
586 | N>D | No |
ClinGen gnomAD |
1 associated diseases with Q16526
[MIM: 614163]: Delayed sleep phase syndrome (DSPS)
A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. {ECO:0000269|PubMed:28388406}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. An adenine-to-cytosine transversion within the 5'splice site following exon 11 has been found in multiple members of a DSPD family and segregates with the disorder with autosomal dominant inheritance pattern. This variant is predicted to cause exon 11 skipping and in-frame deletion of 24 residues in the C-terminal region of CRY1. Functional studies show that the mutated protein acts as a more potent transcriptional repressor than wild-type, causes reduced expression of key transcriptional targets and lengthens the period of circadian molecular rhythms. {ECO:0000269|PubMed:28388406}.
Without disease ID
- A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. {ECO:0000269|PubMed:28388406}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. An adenine-to-cytosine transversion within the 5'splice site following exon 11 has been found in multiple members of a DSPD family and segregates with the disorder with autosomal dominant inheritance pattern. This variant is predicted to cause exon 11 skipping and in-frame deletion of 24 residues in the C-terminal region of CRY1. Functional studies show that the mutated protein acts as a more potent transcriptional repressor than wild-type, causes reduced expression of key transcriptional targets and lengthens the period of circadian molecular rhythms. {ECO:0000269|PubMed:28388406}.
4 regional properties for Q16526
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 67 - 119 | IPR001680-1 |
| repeat | WD40 repeat | 120 - 203 | IPR001680-2 |
| domain | Domain of unknown function DUF1899 | 4 - 69 | IPR015048 |
| conserved_site | WD40 repeat, conserved site | 147 - 161 | IPR019775 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| blue light photoreceptor activity | The function of absorbing and responding to electromagnetic radiation with a wavelength of approximately 400-470nm. The response may involve a change in conformation. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| E-box binding | Binding to an E-box, a DNA motif with the consensus sequence CANNTG that is found in the promoters of a wide array of genes expressed in neurons, muscle and other tissues. |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| histone deacetylase binding | Binding to histone deacetylase. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| phosphatase binding | Binding to a phosphatase. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| blue light signaling pathway | The series of molecular signals initiated upon sensing of blue light by photoreceptor molecule, at a wavelength between 400nm and 470nm. |
| circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| DNA damage induced protein phosphorylation | The widespread phosphorylation of various molecules, triggering many downstream processes, that occurs in response to the detection of DNA damage. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| gluconeogenesis | The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| lipid storage | The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| negative regulation of circadian rhythm | Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of G protein-coupled receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
| negative regulation of glucocorticoid receptor signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid receptor signaling pathway. |
| negative regulation of glucocorticoid secretion | Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. |
| negative regulation of gluconeogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. |
| negative regulation of protein ubiquitination | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of DNA damage checkpoint | Any process that modulates the frequency, rate or extent of a DNA damage checkpoint. |
| response to activity | 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 activity stimulus. |
| response to glucagon | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. |
| response to insulin | 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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| response to light stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8QG60 | CRY2 | Cryptochrome-2 | Gallus gallus (Chicken) | PR |
| Q49AN0 | CRY2 | Cryptochrome-2 | Homo sapiens (Human) | PR |
| Q9R194 | Cry2 | Cryptochrome-2 | Mus musculus (Mouse) | PR |
| P97784 | Cry1 | Cryptochrome-1 | Mus musculus (Mouse) | PR |
| Q923I8 | Cry2 | Cryptochrome-2 | Rattus norvegicus (Rat) | PR |
| Q0E2Y1 | UVR3 | (6-4)DNA photolyase | Oryza sativa subsp japonica (Rice) | PR |
| Q96524 | CRY2 | Cryptochrome-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48652 | UVR3 | (6-4)DNA photolyase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGVNAVHWFR | KGLRLHDNPA | LKECIQGADT | IRCVYILDPW | FAGSSNVGIN | RWRFLLQCLE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLDANLRKLN | SRLFVIRGQP | ADVFPRLFKE | WNITKLSIEY | DSEPFGKERD | AAIKKLATEA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GVEVIVRISH | TLYDLDKIIE | LNGGQPPLTY | KRFQTLISKM | EPLEIPVETI | TSEVIEKCTT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PLSDDHDEKY | GVPSLEELGF | DTDGLSSAVW | PGGETEALTR | LERHLERKAW | VANFERPRMN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ANSLLASPTG | LSPYLRFGCL | SCRLFYFKLT | DLYKKVKKNS | SPPLSLYGQL | LWREFFYTAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNNPRFDKME | GNPICVQIPW | DKNPEALAKW | AEGRTGFPWI | DAIMTQLRQE | GWIHHLARHA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VACFLTRGDL | WISWEEGMKV | FEELLLDADW | SINAGSWMWL | SCSSFFQQFF | HCYCPVGFGR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RTDPNGDYIR | RYLPVLRGFP | AKYIYDPWNA | PEGIQKVAKC | LIGVNYPKPM | VNHAEASRLN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IERMKQIYQQ | LSRYRGLGLL | ASVPSNPNGN | GGFMGYSAEN | IPGCSSSGSC | SQGSGILHYA |
| 550 | 560 | 570 | 580 | ||
| HGDSQQTHLL | KQGRSSMGTG | LSGGKRPSQE | EDTQSIGPKV | QRQSTN |