Q9Y6P5
Gene name |
SESN1 |
Protein name |
Sestrin-1 |
Names |
p53-regulated protein PA26 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27244 |
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 Q9Y6P5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6P5-F1 | Predicted | AlphaFoldDB |
341 variants for Q9Y6P5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1330134273 CA365186465 |
4 | A>V | No |
ClinGen TOPMed |
|
|
rs1269990209 CA365186453 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA145040450 rs867105017 |
7 | A>V | No |
ClinGen Ensembl |
|
|
rs896154275 CA365186440 |
8 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365186437 rs1345847077 |
9 | E>* | No |
ClinGen TOPMed |
|
|
CA145040437 rs868222731 |
9 | E>G | No |
ClinGen gnomAD |
|
|
CA3950597 rs142983751 |
10 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365186427 rs1257862514 |
11 | Y>N | No |
ClinGen Ensembl |
|
|
CA365186418 rs1278393227 |
12 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 14 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295341800 CA365186405 |
14 | P>T | No |
ClinGen gnomAD |
|
|
CA365186379 rs1324549257 |
18 | S>* | No |
ClinGen gnomAD |
|
|
CA365186372 rs1298149118 |
19 | G>E | No |
ClinGen gnomAD |
|
|
CA3950596 rs755639093 |
22 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA365186335 rs1490247771 |
25 | Q>R | No |
ClinGen TOPMed |
|
|
rs748685243 CA3950595 |
26 | C>G | No |
ClinGen ExAC |
|
|
CA365186325 rs1213232905 |
26 | C>W | No |
ClinGen gnomAD |
|
|
CA145040400 rs771298906 |
27 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1208056055 CA365186315 |
28 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781592728 CA3950594 |
29 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361817251 CA365186301 |
31 | D>N | No |
ClinGen gnomAD |
|
|
CA145040379 rs887608622 |
32 | Q>* | No |
ClinGen Ensembl |
|
|
rs887330063 CA365186261 |
33 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA145040377 rs1048916111 |
33 | D>G | No |
ClinGen Ensembl |
|
|
CA365186256 rs1249653928 |
34 | E>* | No |
ClinGen gnomAD |
|
|
CA365186250 rs1191728782 |
34 | E>V | No |
ClinGen gnomAD |
|
|
CA365191158 rs1171482262 |
36 | L>F | No |
ClinGen gnomAD |
|
|
CA3950586 rs146922968 |
37 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253602779 CA365191121 |
42 | R>* | No |
ClinGen gnomAD |
|
|
CA3950585 rs767306041 |
42 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950584 rs2273668 VAR_014210 |
44 | L>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2273668 CA145065764 |
44 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147845692 CA3950583 |
45 | G>A | No |
ClinGen ESP ExAC |
|
|
rs1418622558 CA365191081 |
49 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA365191072 rs1196032474 |
50 | R>S | No |
ClinGen gnomAD |
|
|
CA3950582 rs552659231 |
50 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748926614 CA365191064 CA3950581 |
51 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA365191058 rs1278673127 |
52 | I>S | No |
ClinGen gnomAD |
|
|
rs772807801 CA3950580 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950579 rs369021558 |
56 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365191013 rs1583265368 |
57 | I>N | No |
ClinGen Ensembl |
|
|
rs775940697 CA3950555 |
58 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415613973 CA365190990 |
61 | G>R | No |
ClinGen gnomAD |
|
|
CA365190981 rs1375852932 |
62 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774482265 CA145065068 |
62 | S>R | No |
ClinGen gnomAD |
|
|
CA145065065 rs1005093051 |
63 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3950552 rs376950903 |
65 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1225322 CA3950553 rs376950903 |
65 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA365190958 rs1374465320 |
66 | Q>* | No |
ClinGen Ensembl |
|
|
CA365190940 rs1399505254 |
68 | H>D | No |
ClinGen TOPMed |
|
|
CA3950551 rs772540397 |
68 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186849805 CA365190932 |
69 | A>S | No |
ClinGen gnomAD |
|
|
rs149726227 CA3950550 |
72 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1071948 CA3950549 rs779364145 |
74 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3950548 rs757353675 |
75 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749478685 CA145065031 |
76 | A>V | No |
ClinGen Ensembl |
|
|
rs756253993 CA3950545 |
80 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371591680 CA3950544 |
80 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365190856 rs1272563178 |
81 | L>W | No |
ClinGen gnomAD |
|
|
CA3950543 rs766355196 |
82 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3950542 rs762972224 |
85 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA365190829 rs1381565272 |
85 | T>S | No |
ClinGen gnomAD |
|
|
CA3950540 rs765087833 |
87 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA145064976 rs11556938 |
89 | V>A | No |
ClinGen Ensembl |
|
|
rs776488244 CA3950538 |
93 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163492427 CA365190753 |
96 | E>G | No |
ClinGen gnomAD |
|
|
rs768245807 CA365190756 |
96 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950537 rs768245807 |
96 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950536 rs760307290 |
97 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1429037232 CA365190747 |
97 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184378999 CA365190704 |
103 | H>Y | No |
ClinGen gnomAD |
|
|
rs1243042829 CA365190694 |
104 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA365190693 rs1243042829 |
104 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3950532 rs201465645 |
108 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950533 rs746389602 |
108 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1252484837 CA365190660 |
109 | D>G | No |
ClinGen gnomAD |
|
|
CA365190654 rs1214343983 |
110 | G>R | No |
ClinGen gnomAD |
|
|
rs1271196492 CA365190646 |
111 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3950531 rs771384645 |
111 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3950529 rs778011237 |
115 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365190627 rs1437191840 |
115 | H>Y | No |
ClinGen gnomAD |
|
|
rs769935193 CA3950528 |
117 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748178740 CA3950527 |
117 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79832046 CA3950525 |
118 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA3950526 rs781284555 |
118 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167959734 CA365190594 |
120 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs151284724 CA3950524 |
120 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167959734 CA365190593 |
120 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3950505 rs745757510 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562455891 CA365190530 |
128 | H>D | No |
ClinGen Ensembl |
|
|
rs368711688 CA3950503 |
128 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405886915 CA365190527 |
128 | H>R | No |
ClinGen gnomAD |
|
|
CA145064323 rs1047353354 |
129 | Q>H | No |
ClinGen Ensembl |
|
|
rs930318022 CA145064313 |
130 | C>R | No |
ClinGen Ensembl |
|
|
CA3950502 rs753622961 |
132 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3950501 rs764014847 |
133 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3950500 rs755780757 |
135 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA365190477 rs1218494361 |
136 | L>M | No |
ClinGen TOPMed |
|
|
CA3950498 rs375028635 |
137 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3950497 rs759152035 |
139 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200097683 CA145064286 |
142 | L>P | No |
ClinGen TOPMed |
|
|
rs374094607 CA145064250 |
143 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3950495 rs374094607 |
143 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950496 rs774705909 |
143 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145064219 rs984736083 |
145 | G>D | No |
ClinGen TOPMed |
|
|
CA3950494 rs773524051 |
145 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773524051 CA3950493 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770163426 CA3950492 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs974512964 CA145064200 |
147 | D>N | No |
ClinGen Ensembl |
|
|
rs140062020 CA3950491 |
148 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3950490 rs776948785 |
149 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365190398 rs776948785 |
149 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375235139 CA365190391 |
150 | W>* | No |
ClinGen gnomAD |
|
|
CA3950489 rs760197100 |
152 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747056609 CA3950488 |
153 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA145064183 rs987716314 |
155 | E>V | No |
ClinGen Ensembl |
|
|
rs1343896583 CA365190350 |
156 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3950486 rs770954026 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3950485 rs749261620 |
159 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279209258 CA365190296 |
164 | L>S | No |
ClinGen TOPMed |
|
|
CA365190291 rs1348552399 |
165 | G>R | No |
ClinGen TOPMed |
|
|
CA365190284 rs1032022376 |
166 | E>* | No |
ClinGen gnomAD |
|
|
COSM739725 CA145064165 rs1032022376 |
166 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1182185267 CA365190274 |
167 | L>P | No |
ClinGen gnomAD |
|
|
CA3950483 rs756014265 |
168 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs961520823 CA145064161 |
168 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461253100 CA365190250 |
171 | L>S | No |
ClinGen TOPMed |
|
|
rs549678440 CA3950481 |
173 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365190236 rs1269416704 |
173 | H>R | No |
ClinGen gnomAD |
|
|
rs1008424804 CA145064151 |
174 | R>S | No |
ClinGen TOPMed |
|
|
rs751013218 CA3950479 |
175 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3950477 rs763399693 |
178 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365190200 rs1398205221 |
179 | T>A | No |
ClinGen gnomAD |
|
|
rs776876641 CA3950473 |
183 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950474 rs371392243 |
183 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365190119 rs1391212122 |
189 | A>T | No |
ClinGen TOPMed |
|
|
rs1436299259 CA365190116 |
189 | A>V | No |
ClinGen TOPMed |
|
|
rs977464045 CA145063087 |
190 | E>K | No |
ClinGen Ensembl |
|
|
CA365190106 rs1479431236 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA365190020 rs1397460744 |
197 | A>G | No |
ClinGen TOPMed |
|
|
rs1376515862 CA365190024 |
197 | A>T | No |
ClinGen TOPMed |
|
|
CA365189986 rs1344722599 |
200 | V>L | No |
ClinGen gnomAD |
|
|
CA365189973 rs1234180002 |
201 | H>P | No |
ClinGen gnomAD |
|
|
CA365189975 rs1234180002 |
201 | H>R | No |
ClinGen gnomAD |
|
|
rs376971427 CA3950445 |
202 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145063067 rs369712213 |
205 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs373895777 CA145063052 |
210 | H>D | No |
ClinGen ESP |
|
|
CA365189884 rs1254092400 |
210 | H>R | No |
ClinGen TOPMed |
|
|
CA145063037 rs35697331 |
214 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950441 rs35697331 |
214 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365189823 rs1472309889 |
216 | T>I | No |
ClinGen TOPMed |
|
|
rs1377729830 CA365189821 |
217 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365189820 rs1377729830 |
217 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1220310443 CA365189808 |
218 | G>S | No |
ClinGen Ensembl |
|
|
rs1416772262 CA365189781 |
220 | G>A | No |
ClinGen gnomAD |
|
|
rs369355631 CA3950438 |
222 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950437 rs768383429 |
223 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3950436 rs746639044 |
224 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779744842 CA3950435 COSM1071947 |
232 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs757886717 CA3950434 |
233 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3950433 rs745320994 |
234 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365189635 rs1349913754 |
234 | R>T | No |
ClinGen gnomAD |
|
|
rs1467217774 CA365189610 |
237 | S>P | No |
ClinGen TOPMed |
|
|
rs553986577 CA3950431 |
238 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365189575 rs1310807543 |
240 | N>I | No |
ClinGen gnomAD |
|
|
CA365189577 rs1310807543 |
240 | N>S | No |
ClinGen gnomAD |
|
|
rs1310807543 CA365189578 |
240 | N>T | No |
ClinGen gnomAD |
|
|
rs375753083 CA3950430 |
241 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365189556 rs1402890371 |
242 | C>S | No |
ClinGen gnomAD |
|
|
rs754354528 CA3950429 |
243 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3950427 rs756502932 |
248 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748655496 CA145062920 |
250 | N>S | No |
ClinGen gnomAD |
|
|
CA365189475 rs1562455024 |
251 | H>P | No |
ClinGen Ensembl |
|
|
rs1255881041 CA365189472 |
251 | H>Q | No |
ClinGen gnomAD |
|
|
rs1261941152 CA365189476 |
251 | H>Y | No |
ClinGen gnomAD |
|
|
CA3950425 rs767789452 |
252 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA365189464 rs1443331379 |
252 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs548806605 CA3950424 |
253 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1034106509 CA145062887 |
254 | D>A | No |
ClinGen Ensembl |
|
|
CA3950423 rs138898747 |
255 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA145062861 rs904434135 |
256 | M>I | No |
ClinGen TOPMed |
|
|
rs1328647386 CA365189440 |
256 | M>T | No |
ClinGen gnomAD |
|
|
rs150654249 CA3950421 |
257 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3950422 rs150654249 |
257 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283800278 CA365189419 |
259 | N>K | No |
ClinGen gnomAD |
|
|
CA3950419 rs143545521 |
259 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365189405 rs1447071069 |
262 | E>K | No |
ClinGen gnomAD |
|
|
rs746834049 CA365189383 |
265 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs746834049 CA3950418 |
265 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA145060433 rs535710671 |
266 | V>G | No |
ClinGen gnomAD |
|
|
rs200255805 CA3950404 |
267 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA145060427 rs112563275 |
267 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 267 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365189349 rs1191054545 |
269 | S>P | No |
ClinGen gnomAD |
|
|
rs1057129965 CA145060396 |
275 | A>V | No |
ClinGen Ensembl |
|
|
rs763876525 CA3950400 |
277 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs958191694 CA145060389 |
277 | M>V | No |
ClinGen TOPMed |
|
|
CA365189248 rs75780557 |
283 | L>I | No |
ClinGen TOPMed |
|
|
rs75780557 CA145060388 |
283 | L>V | No |
ClinGen TOPMed |
|
|
rs1291786157 CA365189235 |
284 | Q>H | No |
ClinGen gnomAD |
|
|
CA145060384 rs757704028 |
286 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 287 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218235551 CA365189219 |
287 | R>G | No |
ClinGen TOPMed |
|
|
CA365189217 rs1341157600 |
287 | R>Q | No |
ClinGen gnomAD |
|
|
CA3950398 rs760701656 |
288 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048535718 CA145060355 |
290 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759161337 CA3950394 |
293 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1305765392 CA365189166 |
294 | Q>R | No |
ClinGen gnomAD |
|
|
rs1429593576 CA365189142 |
297 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1429593576 CA365189143 |
297 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1554262797 CA3950392 |
299 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 304 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 306 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365189079 rs903300709 |
306 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA145060303 rs903300709 |
306 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3950390 rs770462649 |
307 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760878307 CA145060302 |
307 | E>K | No |
ClinGen gnomAD |
|
|
rs371879536 CA3950389 |
308 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768870908 CA145060284 |
310 | F>L | No |
ClinGen Ensembl |
|
|
rs777341294 CA3950386 |
310 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA145060282 rs1020343983 |
311 | V>A | No |
ClinGen TOPMed |
|
|
rs1361261634 CA365189048 |
311 | V>I | No |
ClinGen TOPMed |
|
|
rs1278575875 CA365189034 |
313 | S>P | No |
ClinGen TOPMed |
|
|
CA365189032 rs1231430248 |
313 | S>Y | No |
ClinGen gnomAD |
|
|
rs770423654 CA3950370 |
317 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934016829 CA145059040 |
317 | E>G | No |
ClinGen Ensembl |
|
|
rs762697538 CA365188986 |
318 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3950368 rs772548122 |
318 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs762697538 CA3950369 |
318 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs769392905 CA3950367 |
319 | V>A | No |
ClinGen ExAC |
|
|
rs1284575951 CA365188977 |
320 | T>A | No |
ClinGen TOPMed |
|
|
rs968168864 CA145059008 |
320 | T>R | No |
ClinGen Ensembl |
|
|
rs748633348 CA3950365 |
321 | P>L | No |
ClinGen ExAC |
|
|
rs1273995657 CA365188971 |
321 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365188968 rs1394690343 |
322 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781780594 CA3950364 |
326 | S>A | No |
ClinGen ExAC |
|
|
CA3950362 rs557313505 |
327 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780468161 CA3950361 |
327 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750711133 CA3950359 |
334 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs757397697 CA3950357 |
336 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1421897691 CA365188823 |
336 | Y>H | No |
ClinGen gnomAD |
|
|
CA365188811 rs1182383634 |
337 | K>E | No |
ClinGen gnomAD |
|
|
CA365188799 rs201225098 |
338 | D>H | No |
ClinGen gnomAD |
|
|
rs201225098 CA145058939 |
338 | D>N | No |
ClinGen gnomAD |
|
|
CA365188767 rs752619167 |
341 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767386298 CA3950355 |
343 | G>R | No |
ClinGen ExAC |
|
|
CA3950354 rs759474520 |
345 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs370356794 CA3950353 |
347 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950352 rs199611315 COSM3766885 |
350 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772956928 CA3950351 |
350 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772956928 CA3950350 |
350 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950349 rs377481017 |
351 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766055393 CA3950335 |
354 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3950333 rs750027141 |
356 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs764922603 CA3950332 |
357 | E>D | No |
ClinGen ExAC |
|
|
CA365188453 rs1391783010 |
357 | E>K | No |
ClinGen gnomAD |
|
|
CA3950331 rs761558481 |
359 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3950330 rs776238078 |
359 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761059613 CA3950328 |
362 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1475851538 CA365188391 |
366 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA145057162 rs937114076 |
368 | Y>F | No |
ClinGen TOPMed |
|
|
CA365188368 rs1238842417 |
369 | P>L | No |
ClinGen TOPMed |
|
|
CA365188325 rs201020606 |
376 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3950327 rs201020606 |
376 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365188312 rs1196069006 |
377 | E>D | No |
ClinGen gnomAD |
|
|
CA145057156 rs927070728 |
378 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772314185 CA3950326 |
379 | F>V | No |
ClinGen ExAC |
|
|
rs746187351 CA3950325 |
381 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365188277 rs1261981726 |
382 | A>V | No |
ClinGen TOPMed |
|
|
CA3950324 rs774585259 |
384 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA365188267 rs774585259 |
384 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1482287006 CA365188265 |
384 | N>S | No |
ClinGen gnomAD |
|
|
rs757974485 CA145057143 |
388 | N>S | No |
ClinGen Ensembl |
|
|
rs1206545392 CA365188222 |
390 | M>I | No |
ClinGen gnomAD |
|
|
CA365188211 rs1254750453 |
392 | M>T | No |
ClinGen gnomAD |
|
|
CA3950322 rs749534099 |
392 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777807556 CA3950321 |
394 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1331747916 CA365188189 |
395 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3950320 rs756225119 |
400 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3950319 rs777845724 |
403 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1473700910 CA365188097 |
408 | Y>C | No |
ClinGen TOPMed |
|
|
CA3950318 rs369330706 |
410 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950317 rs758278301 |
411 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3950316 CA365188067 rs750161025 |
412 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145057128 rs1016537660 |
412 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365188053 rs1356056565 |
414 | G>A | No |
ClinGen gnomAD |
|
|
CA145057124 rs918537818 |
416 | R>K | No |
ClinGen Ensembl |
|
|
CA365187850 rs146939598 |
417 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950300 rs773489599 |
418 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365187845 rs1373901982 |
418 | D>Y | No |
ClinGen TOPMed |
|
|
CA145055764 rs370303610 |
421 | D>N | No |
ClinGen Ensembl |
|
|
CA3950297 rs748198330 |
422 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269074691 CA365187766 |
424 | E>V | No |
ClinGen gnomAD |
|
|
CA3950292 rs757187967 |
431 | R>C | Variant assessed as Somatic; 0.0003743 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3950291 rs369093694 |
431 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365187686 rs369093694 |
431 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3950289 COSM1672662 rs755727138 |
436 | Y>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 437 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387254019 CA365187615 |
437 | I>N | No |
ClinGen gnomAD |
|
|
rs1387254019 CA365187617 |
437 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 441 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473317780 CA365187520 |
450 | R>T | No |
ClinGen gnomAD |
|
|
CA365187512 rs1387678283 |
451 | M>T | No |
ClinGen gnomAD |
|
|
rs1448953598 CA365187495 |
453 | D>G | No |
ClinGen gnomAD |
|
|
rs773577159 CA3950282 |
457 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1209067119 CA569152513 |
463 | E>A* | No |
ClinGen gnomAD |
|
|
CA365187412 rs1583255529 |
464 | K>E | No |
ClinGen Ensembl |
|
|
rs1306510376 CA365187392 |
465 | V>F | No |
ClinGen gnomAD |
|
|
CA365187380 rs1266402509 |
467 | V>I | No |
ClinGen TOPMed |
|
|
rs3799831 CA145055239 |
468 | N>I | No |
ClinGen Ensembl |
|
|
rs201885358 CA3950267 |
472 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485777558 CA365187349 |
472 | I>V | No |
ClinGen TOPMed |
|
|
CA365187328 rs1583254669 |
475 | R>K | No |
ClinGen Ensembl |
|
|
rs766813574 CA3950266 |
477 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916523363 CA145055220 |
481 | L>I | No |
ClinGen Ensembl |
|
|
CA365187268 rs1412902067 |
483 | A>V | No |
ClinGen gnomAD |
|
|
CA145055207 rs960349001 |
485 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750741495 CA3950264 |
486 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482587346 CA365187246 |
487 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762070609 CA3950262 |
487 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1442130633 CA365187244 |
488 | T>A | No |
ClinGen gnomAD |
|
|
rs1233452635 CA365187241 |
488 | T>N | No |
ClinGen gnomAD |
|
|
rs776788098 CA3950261 |
489 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760783455 CA3950259 |
489 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760783455 CA3950260 |
489 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA145055157 rs868221814 |
491 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs1212255665 CA365187208 |
493 | T>W | No |
ClinGen gnomAD |
No associated diseases with Q9Y6P5
No regional properties for Q9Y6P5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y6P5 | |||
5 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. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| leucine binding | Binding to 2-amino-4-methylpentanoic acid. |
| oxidoreductase activity, acting on peroxide as acceptor | Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular oxidant detoxification | Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide. |
| cellular response to amino acid starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids. |
| cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
| cellular response to leucine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leucine stimulus. |
| cellular response to leucine starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of leucine. |
| negative regulation of TORC1 signaling | Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling. |
| positive regulation of macroautophagy | Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation. |
| reactive oxygen species metabolic process | The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. |
| regulation of response to reactive oxygen species | Any process that modulates the frequency, rate or extent of response to reactive oxygen species. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRLAAAANEA | YTAPLAVSGL | LGCKQCGGGR | DQDEELGIRI | PRPLGQGPSR | FIPEKEILQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSEDAQMHAL | FADSFAALGR | LDNITLVMVF | HPQYLESFLK | TQHYLLQMDG | PLPLHYRHYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GIMAAARHQC | SYLVNLHVND | FLHVGGDPKW | LNGLENAPQK | LQNLGELNKV | LAHRPWLITK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EHIEGLLKAE | EHSWSLAELV | HAVVLLTHYH | SLASFTFGCG | ISPEIHCDGG | HTFRPPSVSN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YCICDITNGN | HSVDEMPVNS | AENVSVSDSF | FEVEALMEKM | RQLQECRDEE | EASQEEMASR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FEIEKRESMF | VFSSDDEEVT | PARAVSRHFE | DTSYGYKDFS | RHGMHVPTFR | VQDYCWEDHG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YSLVNRLYPD | VGQLIDEKFH | IAYNLTYNTM | AMHKDVDTSM | LRRAIWNYIH | CMFGIRYDDY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DYGEINQLLD | RSFKVYIKTV | VCTPEKVTKR | MYDSFWRQFK | HSEKVHVNLL | LIEARMQAEL |
| 490 | |||||
| LYALRAITRY | MT |