P27540
PR
Gene name |
ARNT (BHLHE2) |
Protein name |
Aryl hydrocarbon receptor nuclear translocator |
Names |
ARNT protein, Class E basic helix-loop-helix protein 2, bHLHe2, Dioxin receptor, nuclear translocator, Hypoxia-inducible factor 1-beta, HIF-1-beta, HIF1-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:405 |
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
34 structures for P27540
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X0O | NMR | - | A | 356-470 | PDB |
| 2A24 | NMR | - | B | 358-465 | PDB |
| 2B02 | X-ray | 150 A | A | 354-470 | PDB |
| 2HV1 | NMR | - | A/B | 356-470 | PDB |
| 2K7S | NMR | - | A | 356-470 | PDB |
| 3F1N | X-ray | 148 A | B | 356-470 | PDB |
| 3F1O | X-ray | 160 A | B | 356-470 | PDB |
| 3F1P | X-ray | 117 A | B | 356-470 | PDB |
| 3H7W | X-ray | 165 A | B | 356-470 | PDB |
| 3H82 | X-ray | 150 A | B | 356-470 | PDB |
| 4EQ1 | X-ray | 160 A | A/B | 357-464 | PDB |
| 4GHI | X-ray | 150 A | B | 356-470 | PDB |
| 4GS9 | X-ray | 172 A | B | 356-470 | PDB |
| 4H6J | X-ray | 152 A | B | 357-470 | PDB |
| 4LPZ | X-ray | 315 A | A/B | 356-470 | PDB |
| 4PKY | X-ray | 320 A | A/D | 356-470 | PDB |
| 4XT2 | X-ray | 170 A | B/D | 356-470 | PDB |
| 5TBM | X-ray | 185 A | B | 356-467 | PDB |
| 5UFP | X-ray | 190 A | B | 356-467 | PDB |
| 5V0L | X-ray | 400 A | A | 70-346 | PDB |
| 6CZW | X-ray | 160 A | B | 356-470 | PDB |
| 6D09 | X-ray | 185 A | B | 356-470 | PDB |
| 6D0B | X-ray | 160 A | B | 356-470 | PDB |
| 6D0C | X-ray | 150 A | B | 356-470 | PDB |
| 6X21 | X-ray | 154 A | B | 356-467 | PDB |
| 6X28 | X-ray | 192 A | B | 356-467 | PDB |
| 6X2H | X-ray | 200 A | B | 356-467 | PDB |
| 6X37 | X-ray | 194 A | B | 356-467 | PDB |
| 6X3D | X-ray | 200 A | B | 356-467 | PDB |
| 8CK3 | X-ray | 171 A | B | 356-470 | PDB |
| 8CK4 | X-ray | 229 A | B | 356-470 | PDB |
| 8CK8 | X-ray | 230 A | B | 356-470 | PDB |
| 8G4A | X-ray | 197 A | A/B | 356-470 | PDB |
| AF-P27540-F1 | Predicted | AlphaFoldDB |
529 variants for P27540
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1268420256 CA342337495 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1193355203 CA342337492 |
3 | A>V | No |
ClinGen gnomAD |
|
|
CA342337488 rs1265421807 |
4 | T>A | No |
ClinGen gnomAD |
|
|
rs1343634119 CA342337478 |
5 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1081381 CA342337465 rs747271228 |
7 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227142569 CA342337469 |
7 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303125672 CA342337463 |
8 | P>A | No |
ClinGen gnomAD |
|
|
rs1432128766 CA342349179 |
9 | E>V | No |
ClinGen TOPMed |
|
|
rs146030272 CA1081350 |
10 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754657234 CA1081349 |
12 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1242778324 CA342349138 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs754424632 CA1081345 |
18 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764027746 CA1081344 |
19 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760782153 CA1081343 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA342349116 rs1393596166 |
20 | A>T | No |
ClinGen gnomAD |
|
|
CA30137442 rs965633110 |
22 | A>V | No |
ClinGen Ensembl |
|
|
CA1081340 rs759809720 |
25 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342349070 rs1190052109 |
27 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 29 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1081338 rs770745835 |
29 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199394942 CA342349051 |
30 | I>S | No |
ClinGen gnomAD |
|
|
CA1081336 rs773179687 |
32 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342349041 rs1453244649 |
32 | G>S | No |
ClinGen gnomAD |
|
|
rs769659709 CA1081335 |
34 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM93914 CA342349029 rs1447316068 |
34 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780629150 CA30137421 |
35 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780629150 CA342349023 |
35 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201499435 CA1081334 |
35 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780629150 CA1081333 |
35 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754603094 CA1081332 |
36 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230813269 CA342349021 |
36 | I>V | No |
ClinGen gnomAD |
|
|
CA342349016 rs1229201640 |
37 | V>I | No |
ClinGen TOPMed |
|
|
rs746667101 CA1081331 |
38 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA30137411 rs995636924 |
38 | Q>R | No |
ClinGen Ensembl |
|
|
CA342348990 rs1322104083 |
41 | I>V | No |
ClinGen gnomAD |
|
|
rs757715657 CA1081329 |
43 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA342348975 rs1386729618 |
43 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1081328 rs754299833 |
44 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs764626976 CA1081327 |
44 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1081290 rs771835083 |
48 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1081289 rs147957446 |
49 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778132479 CA1081288 |
55 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1081286 rs748595298 |
60 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223087092 CA342348844 |
61 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA342348076 rs1478084024 |
65 | D>H | No |
ClinGen TOPMed |
|
|
CA1081269 rs773854292 |
66 | Q>H | No |
ClinGen ExAC |
|
|
CA342348062 rs1205325539 |
66 | Q>R | No |
ClinGen gnomAD |
|
|
CA1081268 rs141051493 |
67 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30128858 rs940467216 |
69 | N>D | No |
ClinGen Ensembl |
|
|
CA342348029 rs1272091771 |
69 | N>I | No |
ClinGen gnomAD |
|
|
CA16040274 rs1312509595 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1422231816 CA342348012 |
71 | K>Q | No |
ClinGen TOPMed |
|
|
CA1081264 rs146813760 |
73 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1081266 rs769096175 |
73 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779105288 CA1081241 |
77 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342347324 rs1428483610 |
78 | D>E | No |
ClinGen gnomAD |
|
|
rs1460673481 CA342347321 |
79 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943817666 CA342347275 |
82 | S>N | No |
ClinGen gnomAD |
|
|
rs943817666 CA30126157 |
82 | S>T | No |
ClinGen gnomAD |
|
|
CA1081239 rs749523683 |
83 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342347257 rs1238485591 |
84 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143641553 CA1081237 |
84 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767352759 CA1081235 |
86 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867973621 CA30126105 |
90 | A>S | No |
ClinGen Ensembl |
|
|
rs751549820 CA1081216 COSM1183658 |
101 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1490240303 CA342346910 |
102 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA30124160 rs948601239 |
103 | N>S | No |
ClinGen Ensembl |
|
|
CA342346858 rs1235347029 |
106 | T>I | No |
ClinGen TOPMed |
|
|
CA342346829 rs1177252825 |
109 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749979422 CA1081213 |
115 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1252013102 CA342346704 |
121 | A>V | No |
ClinGen gnomAD |
|
|
CA342346700 rs1347997303 |
122 | L>P | No |
ClinGen gnomAD |
|
|
CA30124134 rs1056979657 |
130 | T>A | No |
ClinGen Ensembl |
|
|
CA1081211 rs761507962 |
131 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770206803 CA30124121 |
133 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1081210 rs752945065 |
133 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs181961097 CA1081209 |
135 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1081208 rs759919140 |
136 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1571321206 CA342346609 |
137 | S>A | No |
ClinGen Ensembl |
|
|
rs965443011 CA30124086 |
140 | K>E | No |
ClinGen TOPMed |
|
|
rs771390470 CA1081206 |
140 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763121654 CA1081205 |
143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773484109 CA1081204 |
146 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs751934130 CA1081203 |
147 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1081201 rs373016604 |
148 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1081200 rs116774603 |
149 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1081199 rs369482161 |
150 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780013660 CA1081198 |
151 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1081197 rs139158737 |
152 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342346499 rs1311021347 |
155 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342346489 rs778405288 |
156 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1081195 rs778405288 |
156 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342346471 rs1280793940 |
159 | L>F | No |
ClinGen gnomAD |
|
|
CA342346311 rs1409533324 |
168 | I>V | No |
ClinGen gnomAD |
|
|
CA342346264 rs1425562637 |
171 | A>V | No |
ClinGen TOPMed |
|
|
CA342346257 rs1244370484 |
172 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1081169 rs375531372 |
180 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342346165 rs1401903752 |
180 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200439860 CA1081167 |
186 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA342346093 rs1393351284 |
186 | V>L | No |
ClinGen Ensembl |
|
|
CA1081166 rs776646773 |
187 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1314094273 CA342346083 |
187 | V>L | No |
ClinGen gnomAD |
|
|
rs760817645 CA1081164 |
188 | Y>D | No |
ClinGen ExAC |
|
|
rs1226524787 CA342346062 |
189 | V>M | No |
ClinGen TOPMed |
|
|
CA342346035 rs1571303670 |
191 | D>A | No |
ClinGen Ensembl |
|
|
CA1081162 rs771882487 |
192 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1081160 rs774247572 |
193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342345971 rs1224696260 |
197 | L>S | No |
ClinGen gnomAD |
|
|
CA1081158 rs777162532 |
198 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1081157 rs777162532 |
198 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs17855057 CA30122340 |
200 | P>Q | No |
ClinGen Ensembl |
|
|
CA1081156 rs755726605 |
201 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191600742 CA342345810 |
210 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342345769 rs1224148651 |
213 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 215 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489707596 CA342345750 |
215 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342345713 rs1445589677 |
218 | V>M | No |
ClinGen TOPMed |
|
|
rs765839596 CA1081151 |
219 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1081150 rs757766972 |
220 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753893261 CA1081149 |
221 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA342345682 rs1293180795 |
222 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA30122295 rs971681913 |
222 | R>H | No |
ClinGen gnomAD |
|
|
rs1571303126 CA342345642 |
225 | L>F | No |
ClinGen Ensembl |
|
|
rs1020918785 CA30122292 |
230 | N>D | No |
ClinGen Ensembl |
|
|
rs1406883634 CA342345563 |
232 | L>R | No |
ClinGen gnomAD |
|
|
rs760908636 CA342345569 |
232 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775708945 CA342345555 |
233 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1081146 rs775708945 |
233 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30121405 rs137869225 |
235 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370671525 CA1081122 |
235 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137869225 CA342345255 |
235 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs140735983 CA30121383 COSM106695 |
238 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1274169210 CA342345232 |
239 | L>I | No |
ClinGen TOPMed |
|
|
CA342345223 rs1557888638 |
240 | K>R | No |
ClinGen Ensembl |
|
|
CA1081121 rs761407728 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1081120 rs776342524 |
242 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766570804 CA30121356 |
244 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342345170 rs1190514244 |
248 | G>D | No |
ClinGen TOPMed |
|
|
CA30121329 rs1009369458 |
248 | G>S | No |
ClinGen TOPMed |
|
|
CA30121326 rs892212140 |
250 | Q>K | No |
ClinGen Ensembl |
|
|
CA30121323 rs1031877991 |
252 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 255 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430060269 CA342345124 |
255 | M>K | No |
ClinGen TOPMed |
|
|
CA342345117 rs1383898341 |
256 | C>R | No |
ClinGen gnomAD |
|
|
CA342345070 rs1339179905 |
262 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342345071 rs1339179905 |
262 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1406051221 CA342345044 COSM3934082 |
266 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1244283293 CA342344981 |
271 | S>I | No |
ClinGen gnomAD |
|
|
CA342344984 rs1244283293 |
271 | S>N | No |
ClinGen gnomAD |
|
|
CA1081110 rs755152317 |
271 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs587676009 CA1081108 |
273 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1081109 rs587676009 |
273 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384440186 CA342344947 |
274 | V>A | No |
ClinGen gnomAD |
|
|
rs1571278938 CA342344920 |
277 | V>L | No |
ClinGen Ensembl |
|
|
CA342344891 rs1382063138 |
279 | V>A | No |
ClinGen gnomAD |
|
|
rs1287853443 CA342344874 |
281 | R>G | No |
ClinGen gnomAD |
|
|
rs762622516 CA1081107 |
282 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1081106 rs750295915 |
283 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1081105 rs150467759 |
284 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761851134 CA1081104 |
288 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1081103 rs143275383 |
289 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143275383 CA342344772 |
289 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763732376 CA1081102 |
290 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1337983076 CA342344667 |
292 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1337983076 CA342344664 |
292 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1081075 rs753853135 |
294 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764178755 CA1081074 |
295 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs780804351 CA1081073 |
298 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780804351 CA342344605 |
298 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999614980 CA30120049 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1336033375 CA342344553 |
302 | H>P | No |
ClinGen gnomAD |
|
|
rs186496166 CA30120038 |
303 | F>Y | No |
ClinGen 1000Genomes |
|
|
rs141351742 CA342344528 |
304 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1081072 rs141351742 |
304 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1022315844 CA30120018 |
305 | V>L | No |
ClinGen Ensembl |
|
|
CA30120016 rs1003073084 |
307 | H>Y | No |
ClinGen TOPMed |
|
|
rs1176335391 CA342344438 |
311 | Y>C | No |
ClinGen TOPMed |
|
|
rs759242068 CA1081070 |
312 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342344403 rs1470920807 |
314 | A>T | No |
ClinGen gnomAD |
|
|
rs199819566 CA30120012 |
315 | W>R | No |
ClinGen 1000Genomes |
|
|
CA1081068 rs770165634 |
316 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA342344253 rs1356988755 |
319 | G>V | No |
ClinGen TOPMed |
|
|
CA342344251 rs1463021937 |
320 | V>I | No |
ClinGen gnomAD |
|
|
rs950004850 CA30115478 |
321 | S>C | No |
ClinGen TOPMed |
|
|
rs751200394 CA1081052 |
322 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1286834078 CA342344201 |
324 | D>G | No |
ClinGen gnomAD |
|
|
rs762158765 CA1081050 |
324 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA342344187 rs1285748144 |
325 | D>G | No |
ClinGen gnomAD |
|
|
CA30115463 rs371168127 |
327 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA342344096 rs1221715868 |
332 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342344019 rs1247955135 |
338 | V>L | No |
ClinGen gnomAD |
|
|
rs769091600 CA1081048 |
339 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144606334 CA1081047 |
340 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1345795150 CA342344000 |
340 | I>V | No |
ClinGen gnomAD |
|
|
CA342343954 rs1571263926 |
343 | L>F | No |
ClinGen Ensembl |
|
|
CA342343868 rs1557877875 |
346 | T>S | No |
ClinGen Ensembl |
|
|
rs983243006 CA30114977 |
347 | S>G | No |
ClinGen TOPMed |
|
|
CA342343842 rs1385303929 |
348 | S>F | No |
ClinGen gnomAD |
|
|
rs1406976962 CA342343818 |
350 | N>K | No |
ClinGen gnomAD |
|
|
rs749525889 CA1081021 |
350 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1011263037 CA342343814 |
351 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1011263037 CA30114976 |
351 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA30114970 rs199767293 |
354 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199767293 CA342343778 |
354 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA30114966 rs17855056 |
363 | F>L | No |
ClinGen gnomAD |
|
|
CA1081019 rs769609360 |
364 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA342343653 rs1465567571 |
365 | S>P | No |
ClinGen gnomAD |
|
|
CA1081018 rs368658611 |
369 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA30114960 rs888817920 COSM423787 |
369 | I>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA342343590 rs375752258 |
370 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1081016 rs754926130 |
371 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1081015 rs751010612 |
371 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1230962754 CA342343518 |
377 | D>A | No |
ClinGen gnomAD |
|
|
CA342343502 rs1571259748 |
378 | H>P | No |
ClinGen Ensembl |
|
|
CA1081013 rs758003019 |
379 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319253562 CA342343493 |
379 | R>H | No |
ClinGen TOPMed |
|
|
CA342343478 rs1324262483 |
380 | C>F | No |
ClinGen gnomAD |
|
|
CA342343465 rs1571259598 |
381 | V>G | No |
ClinGen Ensembl |
|
|
CA342343458 rs750094376 |
383 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1081012 rs750094376 |
383 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342343452 rs997552731 |
384 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs997552731 CA30114904 |
384 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764851308 CA1081011 |
385 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA342343424 rs756473859 |
386 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA342343428 rs1310554105 |
386 | Y>H | No |
ClinGen gnomAD |
|
|
CA1081010 rs756473859 |
386 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs768058132 CA1081008 |
387 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1081009 rs753072150 |
387 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760135403 CA1081007 |
388 | P>A | No |
ClinGen ExAC |
|
| TCGA novel | 389 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939048864 CA30113793 |
391 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1080992 rs745426616 |
394 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA342342516 rs1239824064 |
394 | K>R | No |
ClinGen gnomAD |
|
|
rs1244188089 CA342342501 |
395 | N>S | No |
ClinGen gnomAD |
|
|
rs778626866 CA1080991 |
396 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201917639 CA342342480 |
397 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 399 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400859708 CA342342436 |
400 | C>S | No |
ClinGen gnomAD |
|
|
rs753049853 CA1080989 |
405 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs755501847 CA342342369 |
406 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080986 rs752135364 |
409 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs767032946 CA1080985 |
410 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs114037732 CA30113775 |
410 | D>V | No |
ClinGen 1000Genomes |
|
|
CA1080984 rs370611763 |
411 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422280040 CA342342328 |
413 | Q>E | No |
ClinGen TOPMed |
|
|
rs1571244073 CA342342317 |
414 | Q>R | No |
ClinGen Ensembl |
|
|
CA1080971 rs748927045 |
422 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1232019423 CA342341831 |
425 | V>F | No |
ClinGen TOPMed |
|
|
CA1080966 rs758985362 |
427 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750449068 CA1080965 |
428 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342341793 rs1261130932 |
428 | R>W | No |
ClinGen gnomAD |
|
|
CA1080964 rs2229175 VAR_024280 |
430 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1490590217 CA342341772 |
430 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA342341769 rs1371335581 |
431 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 432 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342341691 rs1208469809 |
436 | W>C | No |
ClinGen gnomAD |
|
|
rs1407040981 CA342341645 |
440 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1252358933 CA342341523 |
449 | P>A | No |
ClinGen gnomAD |
|
|
CA1080961 rs764343636 |
456 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342341443 rs1405165977 |
457 | I>V | No |
ClinGen gnomAD |
|
|
rs775324499 CA1080959 |
458 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1080958 rs771941807 |
460 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1080956 rs145545051 |
462 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080955 rs770370352 |
463 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342341348 rs1484627450 |
464 | V>A | No |
ClinGen TOPMed |
|
|
CA342341341 rs1421552887 |
465 | K>Q | No |
ClinGen gnomAD |
|
|
CA1080953 rs777285312 |
465 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237637333 CA342340936 |
466 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1237637333 CA342340938 |
466 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1046719835 CA30107568 |
467 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1046719835 CA342340920 |
467 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs779287274 CA342340916 |
468 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs779287274 CA1080928 |
468 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA342340914 rs1360965990 |
468 | S>T | No |
ClinGen gnomAD |
|
|
CA342340904 rs1250421255 |
469 | Q>E | No |
ClinGen gnomAD |
|
|
rs757845103 CA1080927 |
470 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1080926 rs749270912 |
471 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418204868 CA342340864 |
472 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1080925 rs143491065 |
472 | R>W | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1080924 rs756290690 |
474 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA342340822 rs1235219716 |
476 | S>P | No |
ClinGen gnomAD |
|
|
CA1080922 rs587701484 |
477 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342340768 rs1287655012 |
480 | Q>P | No |
ClinGen gnomAD |
|
|
CA1080921 rs754699836 |
481 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1080920 rs751427271 |
481 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs766170284 CA1080919 |
483 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1080917 rs772808088 |
486 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764859178 CA1080916 |
487 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1157023372 CA342340706 |
487 | T>I | No |
ClinGen TOPMed |
|
|
CA1080915 rs761455085 |
489 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs868364676 CA30107439 |
491 | P>L | No |
ClinGen Ensembl |
|
|
rs1447337258 CA342340658 COSM1316634 |
494 | M>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA30107402 rs1019132014 |
498 | Q>H | No |
ClinGen TOPMed |
|
|
rs1418171785 CA342340620 |
500 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 501 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746208662 CA1080912 |
501 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA342340496 rs1442931992 |
504 | Q>H | No |
ClinGen TOPMed |
|
|
rs1307512762 CA342340479 |
506 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 508 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30106896 rs1052663894 |
511 | D>A | No |
ClinGen Ensembl |
|
|
VAR_014819 RCV000964402 rs1805133 CA1080879 |
511 | D>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1080877 rs750307666 |
512 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342340430 rs1571188573 |
513 | V>G | No |
ClinGen Ensembl |
|
|
CA1080876 rs375846904 |
516 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1080875 rs10305741 VAR_018906 |
517 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA342340384 rs1329952838 |
521 | S>N | No |
ClinGen gnomAD |
|
|
rs753334631 CA1080874 |
523 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342340325 rs1557853340 |
527 | V>A | No |
ClinGen Ensembl |
|
|
CA342340320 rs1474981328 |
528 | V>A | No |
ClinGen TOPMed |
|
|
rs757224933 CA1080857 |
528 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080856 rs757224933 |
528 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080855 rs753839987 |
530 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA342340297 rs1177925783 |
532 | T>S | No |
ClinGen gnomAD |
|
|
CA1080854 rs777621774 |
533 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755618528 CA1080853 |
534 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767144943 CA1080851 |
536 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs923466039 CA30106712 |
537 | E>A | No |
ClinGen Ensembl |
|
|
CA342340260 rs1279825265 |
538 | H>L | No |
ClinGen gnomAD |
|
|
rs750743583 CA1080849 |
541 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342340236 rs1284412679 |
542 | L>I | No |
ClinGen gnomAD |
|
|
rs1315471032 CA342340199 |
547 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342340200 rs1315471032 |
547 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342340162 rs762213698 |
552 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1080847 rs762213698 |
552 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs777161444 CA1080846 |
553 | R>K | No |
ClinGen ExAC gnomAD |
|
|
COSM3356437 rs762735523 CA30106643 |
555 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs760792350 CA1080844 |
556 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342340136 rs1157879494 |
556 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778515405 CA30106637 |
559 | E>D | No |
ClinGen Ensembl |
|
|
rs1162629371 CA342340093 |
562 | H>Q | No |
ClinGen gnomAD |
|
|
CA1080842 rs772356330 |
562 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs376009144 CA1080841 |
563 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376009144 CA342340091 |
563 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283074134 CA342340087 |
563 | N>S | No |
ClinGen TOPMed |
|
|
CA1080839 rs115472527 |
566 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115472527 CA1080840 |
566 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1080838 rs115472527 |
566 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342340052 rs1440728362 |
567 | D>G | No |
ClinGen TOPMed |
|
|
rs747636674 CA1080835 |
567 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747636674 CA1080836 |
567 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1080818 rs772897717 |
568 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1258109995 CA342340021 |
571 | G>A | No |
ClinGen gnomAD |
|
|
CA342340022 rs1258109995 |
571 | G>D | No |
ClinGen gnomAD |
|
|
rs1184119175 CA342340024 |
571 | G>S | No |
ClinGen TOPMed |
|
|
rs1219893136 CA342340018 |
572 | I>V | No |
ClinGen gnomAD |
|
|
rs1269170414 CA342340010 |
573 | S>A | No |
ClinGen gnomAD |
|
|
CA1080817 rs769729276 |
573 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157296607 CA342339982 |
577 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1080816 rs748056442 |
580 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1080815 rs781155760 |
582 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398207185 CA342339939 |
584 | F>C | No |
ClinGen gnomAD |
|
|
rs1167551497 CA342339922 |
587 | G>S | No |
ClinGen gnomAD |
|
|
CA342339912 rs1478511438 |
588 | N>S | No |
ClinGen gnomAD |
|
|
CA342339901 rs1302727031 |
590 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 592 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200208316 CA1080811 |
594 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1080812 rs200208316 |
594 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1080810 rs200208316 |
594 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1197250214 CA342339876 |
594 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1080809 rs587670365 |
595 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768182420 CA1080806 |
595 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768182420 CA1080807 |
595 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782357 CA1080808 rs587670365 |
595 | R>W | Variant assessed as Somatic; 4.821e-05 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs79157855 CA1080804 |
596 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1080805 rs759685196 |
596 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342339836 rs1346748022 |
601 | R>G | No |
ClinGen gnomAD |
|
|
rs587640516 CA1080783 |
602 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1080782 rs765561969 |
602 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA342339810 rs1473453633 |
603 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA30105993 rs754122594 |
603 | S>N | No |
ClinGen gnomAD |
|
|
CA1080781 rs114389253 |
604 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1080780 rs776420303 |
605 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768511265 CA1080779 |
610 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1080778 rs760635188 |
611 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1347691368 CA342339763 |
611 | I>T | No |
ClinGen gnomAD |
|
|
rs775019737 CA1080777 |
614 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30105941 rs1006646907 |
615 | S>A | No |
ClinGen gnomAD |
|
|
rs889509878 CA30105938 |
615 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 616 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342339698 rs1186034220 |
621 | M>I | No |
ClinGen TOPMed |
|
|
CA342339702 rs1358556822 |
621 | M>K | No |
ClinGen gnomAD |
|
|
CA342339693 rs1386596959 |
622 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868189404 CA30105910 |
626 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA30105918 rs867358594 |
626 | S>P | No |
ClinGen gnomAD |
|
|
CA1080774 rs778430234 |
627 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770675326 CA1080773 |
627 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342339642 rs374089243 |
630 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1080772 rs374089243 |
630 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781694598 CA1080771 |
632 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA342339617 rs1407630084 |
634 | G>E | No |
ClinGen gnomAD |
|
|
CA1080770 rs755503741 |
635 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752088370 CA1080769 |
638 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752088370 CA342339597 |
638 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477879094 CA342339593 |
638 | T>S | No |
ClinGen gnomAD |
|
|
CA342339579 rs1425267549 |
640 | T>I | No |
ClinGen gnomAD |
|
|
CA342339576 rs1474921727 |
641 | P>A | No |
ClinGen gnomAD |
|
|
CA1080766 rs750574542 |
642 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765314219 CA1080765 |
643 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs587624534 CA1080764 |
644 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1080763 rs753587106 |
644 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 645 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1080762 rs140420727 |
646 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30105844 rs140420727 |
646 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342339538 rs1280257127 |
648 | S>P | No |
ClinGen gnomAD |
|
|
rs760514784 CA1080761 |
649 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361678365 CA342339529 |
649 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 650 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 651 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394318537 CA342339493 |
653 | A>P | No |
ClinGen gnomAD |
|
|
rs1356425203 CA342339488 |
654 | T>P | No |
ClinGen TOPMed |
|
|
CA1080731 rs773696724 |
655 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1252718564 CA342339472 |
656 | A>G | No |
ClinGen gnomAD |
|
|
rs766011274 CA1080730 |
661 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA342339406 rs1175513684 |
666 | G>A | No |
ClinGen gnomAD |
|
|
rs763085947 CA30104659 |
668 | G>S | No |
ClinGen gnomAD |
|
|
rs1212518203 CA342339370 |
671 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA342339358 rs1484638502 |
673 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 673 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241479846 CA342339310 |
680 | S>Y | No |
ClinGen gnomAD |
|
|
rs769627388 CA30104646 |
681 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080727 rs769627388 |
681 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379265123 CA342339300 |
682 | P>L | No |
ClinGen gnomAD |
|
|
CA30104614 rs112213997 |
682 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1412602917 CA342339295 |
683 | G>A | No |
ClinGen gnomAD |
|
|
rs1412602917 CA342339296 |
683 | G>D | No |
ClinGen gnomAD |
|
|
CA342339292 rs746406064 |
684 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs746406064 CA1080723 |
684 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs140525728 CA1080722 |
686 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749440287 CA1080720 |
688 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587608052 CA1080721 |
688 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 689 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418512329 CA342339257 |
690 | G>A | No |
ClinGen gnomAD |
|
|
CA342339248 rs1190316002 |
692 | A>P | No |
ClinGen gnomAD |
|
|
CA342339227 rs1314955500 |
695 | P>A | No |
ClinGen TOPMed |
|
|
CA1080717 rs376925279 |
698 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754824680 CA1080715 |
700 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1080714 rs192996355 |
700 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1080716 rs754824680 |
700 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321776294 CA342339189 |
701 | G>E | No |
ClinGen gnomAD |
|
|
rs1211651387 CA342339192 |
701 | G>R | No |
ClinGen TOPMed |
|
|
rs762537834 CA1080712 |
702 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs762537834 CA342339187 |
702 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1080711 rs749966267 COSM249266 |
702 | S>Y | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764916358 CA342339176 |
703 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs201586805 CA30103944 |
705 | A>V | No |
ClinGen Ensembl |
|
|
CA342339149 rs1223740476 |
706 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
VAR_020189 rs2275237 CA1080693 |
706 | P>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA342339138 rs1463872244 |
707 | E>D | No |
ClinGen TOPMed |
|
|
rs1171630980 CA342339127 |
709 | G>E | No |
ClinGen gnomAD |
|
|
rs1463763239 CA342339115 |
711 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761276305 CA1080691 |
713 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753495822 CA1080690 |
714 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753495822 CA30103917 |
714 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA342339098 rs1395148848 |
714 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 716 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1080688 rs587733705 |
718 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342339071 rs1460899422 |
718 | R>W | No |
ClinGen TOPMed |
|
|
CA1080686 rs370493512 |
722 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773231217 CA1080684 |
723 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773231217 CA342339039 |
723 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA342339042 rs1233643056 |
723 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1296571878 CA342339020 |
726 | W>* | No |
ClinGen TOPMed |
|
|
rs1326176721 CA342339013 |
727 | P>S | No |
ClinGen TOPMed |
|
|
rs1396620906 CA342338985 |
729 | W>C | No |
ClinGen Ensembl |
|
|
CA342338989 rs1571156488 |
729 | W>G | No |
ClinGen Ensembl |
|
|
CA342338974 rs748240537 |
730 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs748240537 CA1080682 |
730 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571156245 CA342338946 |
732 | Q>H | No |
ClinGen Ensembl |
|
|
CA1080680 rs768770073 |
732 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs780025415 CA1080678 |
733 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1080679 rs780025415 |
733 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs745777019 CA1080676 |
735 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30103857 rs982837315 |
735 | H>P | No |
ClinGen gnomAD |
|
|
CA342338904 rs1466811153 |
736 | H>Y | No |
ClinGen gnomAD |
|
|
rs1397346689 CA342338890 |
737 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 737 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748207091 CA1080675 |
737 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30103852 rs748207091 |
737 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 738 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756789458 CA342338872 |
739 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756789458 CA1080673 |
739 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753348131 CA1080672 |
739 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260645411 CA342338809 |
744 | H>R | No |
ClinGen TOPMed |
|
|
CA1080669 rs201828588 |
747 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1080668 rs766756351 |
748 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766756351 CA342338760 |
748 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342338686 rs1162630631 |
755 | Q>R | No |
ClinGen Ensembl |
|
|
rs1354274994 CA342338670 |
757 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA30103820 rs587704498 |
758 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1179448125 CA342338402 |
763 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 764 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222069573 CA342338367 |
768 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370308208 CA1080649 |
769 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750762964 CA1080648 |
770 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1080646 rs757498017 |
774 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747092222 CA30103176 |
775 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 778 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1080644 rs200078254 |
779 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30103165 rs760875607 |
779 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA342338289 rs760875607 |
779 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760875607 CA1080643 |
779 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM675524 rs200078254 CA1080645 |
779 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA30103155 rs777958186 |
780 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA342338281 rs149246648 |
781 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1080640 rs745601404 |
781 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1415134030 CA342338266 |
783 | M>R | No |
ClinGen gnomAD |
|
|
rs1475913679 CA342338270 |
783 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1186786449 COSM205932 CA342338252 |
785 | P>S | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1478022649 CA342338247 |
786 | P>A | No |
ClinGen gnomAD |
|
|
rs1478022649 CA342338248 |
786 | P>T | No |
ClinGen gnomAD |
|
| rs745521026 | 788 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335812120 CA342338225 |
789 | E>A | No |
ClinGen gnomAD |
|
|
CA1080638 rs774021972 |
789 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P27540
No regional properties for P27540
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P27540 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| aryl hydrocarbon receptor complex | A protein complex that acts as an aryl hydrocarbon (Ah) receptor. Cytosolic and nuclear Ah receptor complexes have different subunit composition, but both contain the ligand-binding subunit AhR. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| aryl hydrocarbon receptor binding | Binding to an aryl hydrocarbon receptor. |
| cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by some RNA polymerase. The proximal promoter is in cis with and relatively close to the core promoter. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| embryonic placenta development | The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of erythrocyte differentiation | Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. |
| positive regulation of glycolytic process | Any process that activates or increases the frequency, rate or extent of glycolysis. |
| positive regulation of hormone biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. |
| positive regulation of protein sumoylation | Any process that activates or increases the frequency, rate or extent of the addition of SUMO groups to a protein. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of vascular endothelial growth factor production | Any process that increases or activates the frequency, rate, or extent of production of vascular endothelial growth factor. |
| positive regulation of vascular endothelial growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of transcription from RNA polymerase II promoter in response to oxidative stress | Modulation of the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to hypoxia | 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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATTANPEM | TSDVPSLGPA | IASGNSGPGI | QGGGAIVQRA | IKRRPGLDFD | DDGEGNSKFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RCDDDQMSND | KERFARSDDE | QSSADKERLA | RENHSEIERR | RRNKMTAYIT | ELSDMVPTCS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALARKPDKLT | ILRMAVSHMK | SLRGTGNTST | DGSYKPSFLT | DQELKHLILE | AADGFLFIVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CETGRVVYVS | DSVTPVLNQP | QSEWFGSTLY | DQVHPDDVDK | LREQLSTSEN | ALTGRILDLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGTVKKEGQQ | SSMRMCMGSR | RSFICRMRCG | SSSVDPVSVN | RLSFVRNRCR | NGLGSVKDGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PHFVVVHCTG | YIKAWPPAGV | SLPDDDPEAG | QGSKFCLVAI | GRLQVTSSPN | CTDMSNVCQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TEFISRHNIE | GIFTFVDHRC | VATVGYQPQE | LLGKNIVEFC | HPEDQQLLRD | SFQQVVKLKG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QVLSVMFRFR | SKNQEWLWMR | TSSFTFQNPY | SDEIEYIICT | NTNVKNSSQE | PRPTLSNTIQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RPQLGPTANL | PLEMGSGQLA | PRQQQQQTEL | DMVPGRDGLA | SYNHSQVVQP | VTTTGPEHSK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLEKSDGLFA | QDRDPRFSEI | YHNINADQSK | GISSSTVPAT | QQLFSQGNTF | PPTPRPAENF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RNSGLAPPVT | IVQPSASAGQ | MLAQISRHSN | PTQGATPTWT | PTTRSGFSAQ | QVATQATAKT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RTSQFGVGSF | QTPSSFSSMS | LPGAPTASPG | AAAYPSLTNR | GSNFAPETGQ | TAGQFQTRTA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EGVGVWPQWQ | GQQPHHRSSS | SEQHVQQPPA | QQPGQPEVFQ | EMLSMLGDQS | NSYNNEEFPD |
| LTMFPPFSE |