Q49AN0
PR
Gene name |
CRY2 (KIAA0658) |
Protein name |
Cryptochrome-2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1408 |
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 Q49AN0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q49AN0-F1 | Predicted | AlphaFoldDB |
409 variants for Q49AN0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA380203439 rs761411752 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA5958482 rs761411752 |
2 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA380203441 rs761411752 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs564265786 CA5958484 |
3 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380203469 rs1417104105 |
4 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1417104105 CA380203467 |
4 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752759191 CA5958488 |
6 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766334721 CA5958487 |
6 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA380203512 rs752759191 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958489 rs756240790 |
7 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381757900 CA380203522 |
8 | A>T | No |
ClinGen gnomAD |
|
|
CA5958491 rs377534861 |
8 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590758837 CA380203566 |
9 | A>V | No |
ClinGen Ensembl |
|
|
rs746233607 CA5958494 |
10 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779481016 CA5958493 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746233607 CA380203604 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780592699 CA5958496 |
12 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221578233 rs747422649 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747422649 CA5958497 |
13 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380203672 rs1565053780 |
13 | P>S | No |
ClinGen Ensembl |
|
|
CA5958499 rs776050157 |
14 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA221578235 rs533776841 |
14 | A>S | No |
ClinGen gnomAD |
|
|
CA380203716 rs776050157 |
14 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958500 rs373099993 |
16 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380203783 rs1408049423 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs985177139 CA221578249 |
18 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380203779 rs985177139 |
18 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1156445923 CA380203801 |
19 | T>M | No |
ClinGen gnomAD |
|
|
rs965104723 CA221578250 |
20 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380203850 rs1476078604 |
21 | S>R | No |
ClinGen TOPMed |
|
|
rs1354019199 CA380203886 |
23 | S>C | No |
ClinGen gnomAD |
|
|
rs1354019199 CA380203888 |
23 | S>F | No |
ClinGen gnomAD |
|
|
CA380203988 rs1245721015 |
27 | W>* | No |
ClinGen TOPMed |
|
|
CA380204016 rs1412194933 |
27 | W>* | No |
ClinGen gnomAD |
|
|
CA380204053 rs1258250862 |
29 | R>L | No |
ClinGen gnomAD |
|
|
rs1289565642 CA380204136 |
33 | R>* | No |
ClinGen gnomAD |
|
|
CA380204207 rs1458531997 |
35 | H>Q | No |
ClinGen gnomAD |
|
|
rs1349993449 CA380204211 |
36 | D>N | No |
ClinGen gnomAD |
|
|
CA5958504 rs762777595 |
38 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5958503 rs762777595 |
38 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280925718 CA380204288 |
39 | A>T | No |
ClinGen gnomAD |
|
|
CA5958505 rs370387927 |
39 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764284836 CA5958507 |
41 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA221578315 rs868020432 |
43 | A>V | No |
ClinGen Ensembl |
|
|
rs779248960 CA5958510 |
44 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779248960 CA380204409 |
44 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5958513 rs367937869 |
45 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380204441 rs367937869 |
45 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958516 rs768984531 |
47 | A>G | No |
ClinGen ExAC |
|
|
CA380204480 rs768984531 |
47 | A>V | No |
ClinGen ExAC |
|
|
rs1373994686 CA380204508 |
48 | R>L | No |
ClinGen gnomAD |
|
|
rs1216599081 CA380204520 |
49 | C>R | No |
ClinGen TOPMed |
|
|
CA380204548 rs1309112297 |
50 | V>A | No |
ClinGen gnomAD |
|
|
rs1309112297 CA380204550 |
50 | V>G | No |
ClinGen gnomAD |
|
|
rs780736568 CA5958517 |
53 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA380204626 rs1276689205 |
54 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380204691 rs1297050228 |
58 | P>L | No |
ClinGen TOPMed |
|
|
rs979566753 CA221578389 |
61 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA380204760 rs1207063823 |
63 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs772829598 CA5958521 |
64 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273561566 CA380204764 |
64 | S>P | No |
ClinGen gnomAD |
|
|
CA5958522 COSM3935467 rs762473840 |
65 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1454365178 CA380204844 |
70 | R>G | No |
ClinGen gnomAD |
|
|
rs1192572712 CA380204849 |
70 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380204872 rs1392899435 |
71 | W>* | No |
ClinGen gnomAD |
|
|
CA5958524 rs773960751 |
71 | W>R | No |
ClinGen ExAC |
|
|
CA380207820 rs1224995806 |
74 | L>P | No |
ClinGen gnomAD |
|
|
CA380207831 rs1455764007 |
75 | L>R | No |
ClinGen TOPMed |
|
|
CA380207867 rs1335395077 |
79 | E>Q | No |
ClinGen gnomAD |
|
|
rs1232668280 CA380207880 |
80 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774270514 CA5958543 |
84 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA380207933 rs1330668565 |
86 | R>K | No |
ClinGen gnomAD |
|
|
CA380207939 rs1251874608 |
87 | K>E | No |
ClinGen TOPMed |
|
|
rs1590762612 CA380207956 |
89 | N>T | No |
ClinGen Ensembl |
|
|
CA221584139 rs1011479291 |
90 | S>T | No |
ClinGen Ensembl |
|
|
CA5958544 rs745620833 |
91 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1445591636 CA380207966 |
91 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772188459 CA5958545 |
93 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1339722440 CA380207977 |
93 | F>S | No |
ClinGen TOPMed |
|
|
CA5958546 rs775593968 |
94 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958549 rs144480697 |
96 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760652914 CA5958548 |
96 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380208009 rs1454401024 |
99 | P>T | No |
ClinGen gnomAD |
|
|
CA5958553 rs755311944 |
101 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200945082 CA5958555 |
102 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958556 rs200945082 |
102 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5958557 rs777401218 |
105 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA380208063 rs200067613 CA5958558 |
107 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380208098 rs1367681573 |
110 | W>G | No |
ClinGen gnomAD |
|
|
CA5958579 rs750109174 |
114 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs61882468 CA221586095 |
115 | L>F | No |
ClinGen Ensembl |
|
|
rs1590763910 CA380208154 |
118 | E>D | No |
ClinGen Ensembl |
|
|
rs746793715 CA5958582 |
122 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1453514838 CA380208207 |
126 | K>E | No |
ClinGen gnomAD |
|
|
CA5958583 rs372353251 |
128 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958584 rs372353251 |
128 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380208228 rs1462422985 |
129 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 131 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5958585 rs748069580 |
133 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393641562 CA380208268 |
135 | M>V | No |
ClinGen gnomAD |
|
|
rs1565057945 CA380208278 |
136 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 137 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5958587 rs145426016 |
145 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958588 rs201922005 |
145 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380208341 rs1308494289 |
146 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA221586195 rs188334224 |
146 | E>G | No |
ClinGen gnomAD |
|
|
CA221586203 rs905951880 |
147 | N>K | No |
ClinGen TOPMed |
|
|
rs1250162135 CA380208357 |
148 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5958592 rs764473456 |
155 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA380209490 rs1242936124 |
157 | I>V | No |
ClinGen gnomAD |
|
|
rs143261273 CA5958607 |
159 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176673219 CA380209585 |
160 | L>V | No |
ClinGen TOPMed |
|
|
CA380209612 rs1185718193 |
161 | N>S | No |
ClinGen gnomAD |
|
|
rs775714789 CA5958608 |
166 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380209753 rs775714789 |
166 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459440087 CA380209808 |
169 | Y>H | No |
ClinGen gnomAD |
|
|
rs1277418136 CA380209831 |
170 | K>R | No |
ClinGen TOPMed |
|
|
rs375307775 CA5958610 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958611 rs369560580 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1283323945 CA380209901 |
173 | Q>* | No |
ClinGen TOPMed |
|
|
rs765837963 CA5958613 |
174 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380209957 rs1357822291 |
174 | A>V | No |
ClinGen gnomAD |
|
|
CA380210007 rs1293258779 |
176 | I>V | No |
ClinGen gnomAD |
|
|
CA380210029 rs1353588678 |
177 | S>G | No |
ClinGen gnomAD |
|
|
rs535769127 CA5958614 |
177 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs979343941 CA380210053 CA221587826 |
177 | S>R | No |
ClinGen TOPMed |
|
|
rs1285136076 CA380210065 |
178 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs144003583 CA5958615 |
178 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144003583 CA5958616 |
178 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5958617 rs751289197 |
179 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380210085 rs751289197 |
179 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380210136 rs1283589425 |
181 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754592799 CA5958618 |
183 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767273352 CA5958619 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA380210207 rs1471492159 |
184 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756044554 CA5958621 |
187 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs749172980 CA5958623 |
188 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777664189 CA5958622 |
188 | L>S | No |
ClinGen ExAC |
|
|
CA380210329 rs1156511296 |
190 | T>P | No |
ClinGen gnomAD |
|
|
rs780038838 CA5958625 |
193 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs747206003 CA380210447 |
193 | Q>H | No |
ClinGen ExAC |
|
|
rs776931424 CA5958628 |
194 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs768914408 CA5958627 |
194 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425386475 CA380210488 |
195 | E>G | No |
ClinGen TOPMed |
|
|
CA5958629 rs748517484 |
198 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5958631 rs372798103 |
200 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA221587983 rs973201481 |
201 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA380210699 rs1439026058 |
203 | E>D | No |
ClinGen gnomAD |
|
|
CA5958632 rs763516148 |
205 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773854644 CA5958634 COSM1353878 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767166346 CA5958636 |
207 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5958638 rs755957971 |
210 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958640 rs564427935 |
211 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780161254 CA5958642 |
215 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380212198 rs1419438075 |
228 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA221588979 rs1042545577 |
231 | G>R | No |
ClinGen TOPMed |
|
|
rs763887120 CA5958658 |
235 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5958660 rs761810397 |
239 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380212520 rs1432669131 |
243 | H>Q | No |
ClinGen gnomAD |
|
|
rs755110682 CA5958663 |
246 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5958662 rs751642703 |
246 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA221592519 rs976771919 |
249 | W>* | No |
ClinGen gnomAD |
|
|
rs756444559 CA5958683 |
251 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756444559 CA380214569 |
251 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932769045 CA221592529 |
252 | N>S | No |
ClinGen Ensembl |
|
|
CA5958684 rs778118557 |
253 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958685 rs754062866 |
257 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5958686 rs201220841 |
260 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779078142 CA5958687 |
260 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147066472 CA221592563 |
261 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958688 rs147066472 |
261 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590768544 CA380214764 |
262 | S>P | No |
ClinGen Ensembl |
|
|
rs758813815 CA5958689 |
263 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380214786 rs1590768552 |
263 | L>P | No |
ClinGen Ensembl |
|
|
CA221592566 rs949038905 |
266 | S>N | No |
ClinGen Ensembl |
|
|
CA380214886 rs1485622022 |
269 | G>D | No |
ClinGen gnomAD |
|
|
CA380214891 rs1485622022 |
269 | G>V | No |
ClinGen gnomAD |
|
|
CA380214928 rs1181298363 |
271 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768349554 CA5958692 |
271 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA380214961 rs1590768586 |
273 | Y>S | No |
ClinGen Ensembl |
|
|
CA380214985 rs1316051577 |
274 | L>P | No |
ClinGen TOPMed |
|
|
rs368725163 CA5958693 |
275 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380215000 rs1437516691 |
275 | R>H | No |
ClinGen gnomAD |
|
|
rs143660322 CA5958695 |
280 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA221592604 rs180823032 |
280 | S>T | No |
ClinGen Ensembl |
|
|
CA380215108 rs1465466602 |
281 | C>F | No |
ClinGen gnomAD |
|
|
rs772826263 CA5958696 |
282 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763006675 CA5958697 |
283 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200303700 CA5958698 |
286 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564636387 CA5958699 |
287 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5958700 rs200439314 |
287 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217603220 CA380215251 |
292 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5958717 rs772127161 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1298286521 CA380215407 |
297 | R>W | No |
ClinGen gnomAD |
|
|
rs138671347 CA5958719 |
298 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5958720 rs368980968 |
299 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958721 rs776836346 |
300 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762158138 CA5958722 |
301 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs762158138 CA380215430 |
301 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149244634 CA5958723 |
303 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs985238562 CA221594174 |
303 | L>H | No |
ClinGen TOPMed |
|
|
rs985238562 CA380215442 |
303 | L>P | No |
ClinGen TOPMed |
|
|
rs1429024008 CA380215498 |
312 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380215499 COSM1353880 rs1192902527 |
312 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA380215520 rs1168122101 |
315 | F>V | No |
ClinGen gnomAD |
|
|
rs1444853236 CA380215527 |
316 | Y>H | No |
ClinGen TOPMed |
|
|
CA380215538 rs1415394101 |
317 | T>M | No |
ClinGen TOPMed |
|
|
rs911008719 CA221594179 |
317 | T>S | No |
ClinGen gnomAD |
|
|
rs759237570 CA221594184 |
318 | A>T | No |
ClinGen TOPMed |
|
|
rs941212687 CA221594189 |
318 | A>V | No |
ClinGen Ensembl |
|
|
rs755421907 CA5958729 |
321 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958731 rs547134751 |
323 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs983811526 CA221594215 |
324 | R>T | No |
ClinGen TOPMed |
|
|
rs1323693872 CA380215593 |
326 | D>G | No |
ClinGen TOPMed |
|
|
CA5958732 rs144419959 |
327 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5958734 rs777311984 |
327 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5958733 rs777311984 |
327 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA380215601 rs1227762567 |
328 | M>V | No |
ClinGen TOPMed |
|
|
CA5958737 rs745854829 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1278686046 CA380215627 |
331 | N>S | No |
ClinGen TOPMed |
|
|
rs1218286651 CA380215634 |
332 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5958738 rs772129028 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1338225689 CA380215635 |
333 | I>L | No |
ClinGen TOPMed |
|
|
CA380215651 rs1488511291 |
335 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 336 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351223468 CA380215669 |
337 | I>T | No |
ClinGen TOPMed |
|
|
CA221594256 rs2863712 |
339 | W>G | No |
ClinGen Ensembl |
|
|
rs2902545 CA221594261 |
340 | D>Y | No |
ClinGen Ensembl |
|
|
rs769872273 CA5958741 |
341 | R>C | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5958742 rs773341423 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412516020 CA380215697 |
342 | N>H | No |
ClinGen gnomAD |
|
|
rs766746405 CA5958744 |
342 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA380215720 rs1356583455 |
345 | A>S | No |
ClinGen gnomAD |
|
|
rs751909436 CA5958745 |
345 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974861643 CA221594317 |
347 | A>T | No |
ClinGen TOPMed |
|
|
CA380215732 rs1489601697 |
347 | A>V | No |
ClinGen TOPMed |
|
|
CA221594343 rs142425392 |
348 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA221594352 rs929901735 |
350 | A>T | No |
ClinGen Ensembl |
|
|
rs569804127 CA5958747 |
351 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5958750 rs777268085 |
356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA380215924 rs1220932319 |
359 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5958752 rs756953599 |
364 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380216211 rs1476936721 |
367 | R>K | No |
ClinGen Ensembl |
|
|
rs778915922 CA5958753 |
367 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307999794 CA380216210 |
367 | R>W | No |
ClinGen gnomAD |
|
|
CA380216319 COSM1731237 rs1220450213 |
370 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5958754 rs377636843 |
371 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772182169 CA5958755 |
373 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315953805 CA380216403 |
373 | H>Y | No |
ClinGen TOPMed |
|
|
CA380216448 rs1590769683 |
374 | H>P | No |
ClinGen Ensembl |
|
|
rs1590769696 CA380216478 |
376 | A>V | No |
ClinGen Ensembl |
|
|
rs773287335 CA380216489 |
377 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958759 rs773287335 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769770457 CA5958758 |
377 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5958760 rs763144663 |
380 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380216688 rs1357448873 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380216754 rs1590769745 |
388 | D>G | No |
ClinGen Ensembl |
|
|
rs1590769746 CA380216822 |
391 | V>G | No |
ClinGen Ensembl |
|
|
CA380216847 rs1376432702 |
392 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750043872 CA5958771 |
396 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277859534 CA380218074 |
398 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA380218071 rs1277859534 |
398 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs199709255 CA5958772 |
398 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5958799 rs775754822 |
399 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5958800 rs747373251 |
400 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA380218224 rs1339198165 |
402 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 405 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201168726 CA5958801 |
406 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA221594895 rs927874152 |
407 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA221594901 rs879578351 |
411 | V>M | No |
ClinGen gnomAD |
|
|
CA380218436 rs1217929651 |
413 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1217929651 CA380218430 |
413 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769444959 CA5958804 |
414 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA380218507 rs1590770007 |
416 | W>C | No |
ClinGen Ensembl |
|
|
CA380218583 rs1590770010 |
420 | S>A | No |
ClinGen Ensembl |
|
|
CA380218648 rs772839139 |
422 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA380218718 rs1369189863 |
426 | Q>R | No |
ClinGen gnomAD |
|
|
rs762583547 CA5958806 |
429 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426695042 CA380218894 |
435 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1359817275 CA380218918 |
436 | G>A | No |
ClinGen gnomAD |
|
|
CA380218957 rs1353734723 |
439 | R>C | No |
ClinGen TOPMed |
|
|
rs767177340 CA5958810 |
439 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5958811 rs752643640 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199918079 CA5958812 |
440 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs189129564 CA221594963 |
441 | T>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1590770078 CA380219028 |
444 | S>I | No |
ClinGen Ensembl |
|
|
rs1198794815 CA380219151 |
450 | R>* | No |
ClinGen gnomAD |
|
|
rs760645481 CA5958829 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178300311 CA380219193 |
453 | P>R | No |
ClinGen gnomAD |
|
|
CA5958831 rs202243325 |
454 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA221595133 rs981321835 |
457 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5958832 COSM3375808 rs558201046 |
457 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs139385343 CA5958835 |
461 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5958834 rs139385343 |
461 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401909532 CA380219432 |
464 | Y>C | No |
ClinGen gnomAD |
|
|
rs1401909532 CA380219434 |
464 | Y>F | No |
ClinGen gnomAD |
|
|
rs1170284751 CA380219422 |
464 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA380219467 rs1465792844 |
465 | E>D | No |
ClinGen gnomAD |
|
|
rs781734477 CA5958836 |
468 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs991487303 CA221595173 |
471 | E>G | No |
ClinGen Ensembl |
|
|
CA5958838 rs770473551 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA221595179 rs914583512 |
472 | S>* | No |
ClinGen Ensembl |
|
|
rs958461676 CA221595189 |
476 | A>T | No |
ClinGen TOPMed |
|
|
CA5958840 rs368301729 |
476 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178714771 CA380219700 |
477 | A>V | No |
ClinGen TOPMed |
|
|
CA221595206 rs755198886 |
478 | K>N | No |
ClinGen Ensembl |
|
|
rs1260039027 CA380219762 |
480 | I>M | No |
ClinGen gnomAD |
|
|
CA5958842 rs773719460 |
481 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256415079 CA380219780 |
482 | G>S | No |
ClinGen gnomAD |
|
|
rs1204497279 CA380219811 |
483 | V>G | No |
ClinGen TOPMed |
|
|
CA5958843 rs745598668 |
483 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1443464489 CA380219849 |
485 | Y>H | No |
ClinGen TOPMed |
|
|
rs1590770278 CA380219851 |
485 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 486 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380219890 rs1590770289 |
487 | R>Q | No |
ClinGen Ensembl |
|
|
CA5958845 rs372919618 |
487 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760481866 CA5958846 |
488 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs374547914 CA5958847 |
490 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5958848 rs776632958 |
491 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1397663524 CA380219961 |
492 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380220012 rs1294463862 |
494 | E>G | No |
ClinGen gnomAD |
|
|
rs139936457 CA221595274 |
494 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139936457 CA221595270 |
494 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1590770329 CA380220016 |
495 | T>P | No |
ClinGen Ensembl |
|
|
CA5958850 rs766540971 |
497 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958849 rs761601046 |
497 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380220108 rs1280673959 |
500 | I>T | No |
ClinGen gnomAD |
|
|
rs1354377449 CA380220096 |
500 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 501 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341146241 CA380220263 |
505 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1218096020 CA380220341 COSM1353882 |
508 | Q>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5958852 rs201801465 |
512 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039343181 CA221595332 |
512 | R>H | No |
ClinGen Ensembl |
|
|
rs767826193 CA5958853 |
514 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs367724794 CA5958854 |
514 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380220459 rs1488054664 |
515 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1412440368 CA380220471 |
516 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 523 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046802655 CA221595752 |
525 | C>Y | No |
ClinGen Ensembl |
|
|
CA221595757 rs886838614 |
526 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs933771713 CA221595761 |
528 | D>E | No |
ClinGen TOPMed |
|
|
CA380220809 rs1313372368 |
528 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1313372368 CA380220813 |
528 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA380220839 rs1294560014 |
529 | L>F | No |
ClinGen TOPMed |
|
|
CA5958885 rs781085365 |
530 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA380220880 rs1254964062 |
531 | H>Y | No |
ClinGen gnomAD |
|
|
CA5958886 rs747876357 |
533 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA380220968 rs1565062874 |
535 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 535 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221595769 rs1003064688 |
536 | P>H | No |
ClinGen Ensembl |
|
|
CA5958888 rs769583067 |
538 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769583067 CA5958887 |
538 | S>L | Variant assessed as Somatic; 4.94e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1439498265 CA380221039 |
539 | S>N | No |
ClinGen gnomAD |
|
|
CA380221063 rs1439450594 |
540 | Q>H | No |
ClinGen TOPMed |
|
|
rs1427876689 CA380221088 |
541 | A>V | No |
ClinGen gnomAD |
|
|
rs1175416933 CA380221119 |
543 | S>N | No |
ClinGen gnomAD |
|
|
CA5958892 rs563394259 |
546 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775759503 CA5958911 |
548 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA380221826 rs775759503 COSM1508261 |
548 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760859111 CA5958912 |
549 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768740908 CA5958913 |
550 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423058462 CA380221894 |
554 | S>R | No |
ClinGen gnomAD |
|
|
rs1474536447 CA380221913 |
555 | G>S | No |
ClinGen gnomAD |
|
|
CA5958915 rs762033858 |
557 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760099697 CA221596487 |
558 | S>F | No |
ClinGen gnomAD |
|
|
CA5958917 COSM1703837 rs371915973 |
561 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5958918 rs201226401 |
561 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs988589936 CA221596533 |
562 | K>N | No |
ClinGen Ensembl |
|
|
CA5958919 rs766852748 |
566 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958920 rs766852748 |
566 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145692156 CA5958921 |
567 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380222230 rs1285602294 |
571 | G>D | No |
ClinGen gnomAD |
|
|
rs141568119 CA5958922 |
571 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380222243 rs1357427690 |
572 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA221596566 rs1038950556 |
572 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410981840 CA380222318 |
574 | L>F | No |
ClinGen TOPMed |
|
|
CA380222347 rs1290127790 |
575 | S>N | No |
ClinGen gnomAD |
|
|
rs777749647 CA5958925 |
577 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755779930 CA5958924 |
577 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA380222410 rs1169979015 |
578 | A>D | No |
ClinGen TOPMed |
|
|
CA380222421 rs1169979015 |
578 | A>V | No |
ClinGen TOPMed |
|
|
COSM1353884 CA380222436 rs1189796814 |
579 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1445380658 CA380222426 |
579 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380222474 rs1255037742 |
582 | E>G | No |
ClinGen TOPMed |
|
|
CA380222514 rs1264560562 |
585 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5958928 rs371155408 |
586 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261950594 CA380222545 |
586 | P>S | No |
ClinGen TOPMed |
|
|
rs145426822 CA5958930 |
587 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5958931 rs373412727 |
589 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA221596619 rs373412727 |
589 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5958932 rs147703274 |
590 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380222625 rs1383534628 |
591 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773618332 CA5958934 |
591 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5958933 rs770029384 |
591 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932766557 CA221596634 |
593 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs932766557 CA380222673 |
593 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1340695533 CA380222663 |
593 | A>T | No |
ClinGen gnomAD |
|
|
rs932766557 CA380222677 |
593 | A>V | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q49AN0
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| 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. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| 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. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
18 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. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| 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 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 phosphoprotein phosphatase activity | Any process that stops or reduces the activity of a phosphoprotein phosphatase. |
| 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. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| 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 sodium-dependent phosphate transport | Any process that modulates the frequency, rate or extent of sodium-dependent phosphate transport. |
| 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 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 |
| Q16526 | CRY1 | Cryptochrome-1 | Homo sapiens (Human) | PR |
| P97784 | Cry1 | Cryptochrome-1 | Mus musculus (Mouse) | PR |
| Q9R194 | Cry2 | Cryptochrome-2 | 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 |
| MAATVATAAA | VAPAPAPGTD | SASSVHWFRK | GLRLHDNPAL | LAAVRGARCV | RCVYILDPWF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AASSSVGINR | WRFLLQSLED | LDTSLRKLNS | RLFVVRGQPA | DVFPRLFKEW | GVTRLTFEYD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEPFGKERDA | AIMKMAKEAG | VEVVTENSHT | LYDLDRIIEL | NGQKPPLTYK | RFQAIISRME |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPKKPVGLVT | SQQMESCRAE | IQENHDETYG | VPSLEELGFP | TEGLGPAVWQ | GGETEALARL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKHLERKAWV | ANYERPRMNA | NSLLASPTGL | SPYLRFGCLS | CRLFYYRLWD | LYKKVKRNST |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPLSLFGQLL | WREFFYTAAT | NNPRFDRMEG | NPICIQIPWD | RNPEALAKWA | EGKTGFPWID |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AIMTQLRQEG | WIHHLARHAV | ACFLTRGDLW | VSWESGVRVF | DELLLDADFS | VNAGSWMWLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSAFFQQFFH | CYCPVGFGRR | TDPSGDYIRR | YLPKLKAFPS | RYIYEPWNAP | ESIQKAAKCI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IGVDYPRPIV | NHAETSRLNI | ERMKQIYQQL | SRYRGLCLLA | SVPSCVEDLS | HPVAEPSSSQ |
| 550 | 560 | 570 | 580 | 590 | |
| AGSMSSAGPR | PLPSGPASPK | RKLEAAEEPP | GEELSKRARV | AELPTPELPS | KDA |