P43361
PR
Gene name |
MAGEA8 (MAGE8) |
Protein name |
Melanoma-associated antigen 8 |
Names |
Cancer/testis antigen 1.8, CT1.8, MAGE-8 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4107 |
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
2 structures for P43361
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FJB | EM | 306 A | C | 288-296 | PDB |
| AF-P43361-F1 | Predicted | AlphaFoldDB |
200 variants for P43361
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1557370838 CA414533220 |
2 | L>R | No |
ClinGen gnomAD |
|
|
rs782294702 CA10538290 |
3 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs142711367 CA10538291 |
5 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414533266 rs1359693913 |
5 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414533325 rs1557370846 |
7 | S>N | No |
ClinGen gnomAD |
|
|
CA10538292 rs369769657 |
8 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1116722 CA10538293 rs150164908 |
9 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10538294 rs202077662 |
9 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs202077662 CA337051325 |
9 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782585298 CA10538295 |
10 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538298 rs149338313 |
13 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557370857 CA414533481 |
14 | E>G | No |
ClinGen gnomAD |
|
|
CA414533505 rs1557370860 |
15 | G>D | No |
ClinGen gnomAD |
|
|
rs144744609 CA10538301 |
17 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414533570 rs1603000220 |
19 | Q>P | No |
ClinGen Ensembl |
|
|
CA414533585 rs1205959971 |
20 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1557370870 CA414533607 |
21 | E>G | No |
ClinGen gnomAD |
|
|
CA10538302 rs373530302 |
22 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10538303 rs782588772 |
23 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1029785650 CA337051326 |
25 | L>I | No |
ClinGen Ensembl |
|
|
CA414533687 rs1569561966 |
26 | M>T | No |
ClinGen Ensembl |
|
|
rs139941345 CA10538304 |
30 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782556620 CA10538305 |
31 | P>H | No |
ClinGen ExAC |
|
|
CA414533865 rs1262720920 |
35 | E>V | No |
ClinGen TOPMed |
|
|
CA10538307 rs782264853 |
38 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320310786 CA414533963 |
40 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782112088 CA10538309 |
43 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782766025 CA10538310 |
46 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557370892 CA414534093 |
47 | M>L | No |
ClinGen gnomAD |
|
|
rs891200719 CA337051328 |
50 | L>P | No |
ClinGen gnomAD |
|
|
CA337051329 rs181715136 CA10538312 |
53 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414534310 rs1557370895 |
58 | S>T | No |
ClinGen gnomAD |
|
|
rs782163972 CA10538313 |
59 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10538314 rs202095571 |
63 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414534371 rs1557370899 |
63 | Q>R | No |
ClinGen gnomAD |
|
|
CA337051330 rs957363134 |
65 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10538315 rs781996822 |
67 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143905132 CA10538316 COSM390352 |
68 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1557370904 CA414534449 |
70 | S>Y | No |
ClinGen gnomAD |
|
|
rs1557370906 CA414534453 |
71 | S>T | No |
ClinGen gnomAD |
|
|
rs1331571156 CA414534498 |
75 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 76 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3780370 rs1352427589 CA414534500 |
76 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA414534516 rs1557370909 |
77 | S>G | No |
ClinGen gnomAD |
|
|
CA10538317 rs782690283 |
79 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557370912 CA414534552 |
80 | W>* | No |
ClinGen gnomAD |
|
|
CA10538319 rs147306402 |
84 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414534604 rs1415137949 |
85 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200352049 CA10538320 |
87 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414534641 rs1557370919 |
88 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557370924 CA414534719 |
94 | G>E | No |
ClinGen gnomAD |
|
|
rs1557370922 CA414534714 |
94 | G>R | No |
ClinGen gnomAD |
|
|
rs1557370926 CA414534747 |
97 | T>P | No |
ClinGen gnomAD |
|
|
rs1199686773 CA414534773 |
99 | P>L | No |
ClinGen TOPMed |
|
|
CA10538322 rs376628648 |
100 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782615566 CA10538323 |
101 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10538324 rs781844689 |
102 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414534795 rs781844689 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414534808 rs1322466234 |
103 | H>P | No |
ClinGen TOPMed |
|
|
rs185826443 CA337051333 |
104 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA414534834 rs1557370933 |
105 | E>D | No |
ClinGen gnomAD |
|
|
CA414534871 rs782570321 |
109 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538326 rs782570321 |
109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538325 rs782441821 |
109 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368947952 CA10538327 |
113 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs140916437 CA10538329 |
117 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557370940 CA414534972 |
118 | E>G | No |
ClinGen gnomAD |
|
|
COSM261881 CA10538330 rs782267175 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10538331 VAR_053494 rs35744768 |
121 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414535008 rs35744768 |
121 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414535035 rs1351152400 |
123 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA414535052 rs1557370947 |
125 | R>C | No |
ClinGen gnomAD |
|
|
CA10538332 rs150893284 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782415804 CA10538334 |
128 | Q>H | No |
ClinGen ExAC |
|
|
CA10538333 rs782062515 |
128 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202093574 CA10538335 |
132 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202093574 CA10538336 |
132 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557370953 CA414535158 |
133 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 138 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376003727 CA10538338 |
139 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10538339 rs376003727 |
139 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201568596 CA10538340 |
140 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781811141 CA10538341 |
142 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918498728 CA337051335 |
144 | K>R | No |
ClinGen gnomAD |
|
|
CA414535296 rs782694825 |
145 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782694825 CA10538343 |
145 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA414535308 rs1286661249 |
146 | Y>C | No |
ClinGen TOPMed |
|
|
CA414535338 rs1557370960 |
148 | N>K | No |
ClinGen gnomAD |
|
|
CA10538344 rs142124317 |
148 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200493000 CA414535361 |
150 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200493000 CA10538346 |
150 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557370966 CA414535389 |
151 | P>R | No |
ClinGen gnomAD |
|
|
CA337051336 rs890927461 |
152 | D>G | No |
ClinGen TOPMed |
|
|
rs1557370967 CA414535397 |
152 | D>H | No |
ClinGen gnomAD |
|
|
rs1007397213 CA337051337 |
154 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 155 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414535463 rs1569561969 |
157 | A>V | No |
ClinGen Ensembl |
|
|
CA414535491 rs1386946683 |
160 | C>G | No |
ClinGen TOPMed |
|
|
CA10538348 rs782307178 |
161 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557370974 CA414535608 |
170 | K>E | No |
ClinGen gnomAD |
|
|
CA414535623 rs1557370977 |
171 | E>Q | No |
ClinGen gnomAD |
|
|
CA337051339 rs1011522704 |
173 | D>E | No |
ClinGen Ensembl |
|
|
rs1603000985 CA414535655 |
174 | P>T | No |
ClinGen Ensembl |
|
|
rs782287819 CA10538351 |
175 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782287819 CA10538350 |
175 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782079323 CA414535675 |
176 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782079323 CA10538353 |
176 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538355 rs782353443 |
180 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414535719 rs782353443 |
180 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557370985 CA414535753 |
183 | T>N | No |
ClinGen gnomAD |
|
|
CA10538358 rs782225745 |
184 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA337051341 rs201045945 |
187 | L>V | No |
ClinGen 1000Genomes |
|
|
CA10538359 rs782813422 |
189 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA414535836 rs1490227393 |
191 | G>D | No |
ClinGen TOPMed |
|
|
CA414535880 rs1206863820 |
196 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA414535898 rs1603001136 |
197 | Q>P | No |
ClinGen Ensembl |
|
|
CA10538360 rs781908568 |
198 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10538361 rs782119064 |
199 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10538363 rs781825069 |
200 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222359892 CA414535962 |
203 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1340650793 CA414535994 |
206 | I>L | No |
ClinGen TOPMed |
|
|
rs370538636 CA10538365 |
207 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414536040 rs1299311571 |
210 | G>D | No |
ClinGen TOPMed |
|
|
CA414536088 rs1569561970 |
214 | M>V | No |
ClinGen Ensembl |
|
|
rs781888085 CA10538366 |
217 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146661916 CA10538367 |
218 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146661916 CA414536141 |
218 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337051342 rs45606138 COSM124280 |
218 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10538369 COSM362734 rs140305159 |
220 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 220 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782613781 CA10538371 |
222 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782175909 CA10538373 |
223 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782175909 CA10538372 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs916318813 CA337051344 |
226 | E>K | No |
ClinGen TOPMed |
|
|
rs782296415 CA10538376 |
227 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10538375 rs782296415 |
227 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA337051346 rs973730198 |
228 | L>S | No |
ClinGen Ensembl |
|
|
CA337051347 rs45528440 |
232 | G>E | No |
ClinGen Ensembl |
|
|
CA337051348 rs45599834 |
233 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414536408 rs1557371016 |
240 | S>R | No |
ClinGen gnomAD |
|
|
rs781921698 CA10538380 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA337051349 rs45519637 |
243 | W>G | No |
ClinGen Ensembl |
|
|
rs45626333 CA337051350 |
244 | K>E | No |
ClinGen Ensembl |
|
|
CA414536496 rs782812593 |
248 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1603001516 CA414536509 |
249 | L>P | No |
ClinGen Ensembl |
|
|
CA337051351 rs782124820 |
250 | T>I | No |
ClinGen Ensembl |
|
|
rs45500197 CA414536547 CA337051352 |
252 | E>D | No |
ClinGen gnomAD |
|
|
CA337051353 rs45453393 |
253 | W>L | No |
ClinGen Ensembl |
|
|
rs782525478 CA10538384 |
253 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA337051355 rs45564732 |
257 | N>K | No |
ClinGen Ensembl |
|
|
rs1557371022 CA414536613 |
258 | Y>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1202684594 CA414536650 |
261 | Y>C | No |
ClinGen TOPMed |
|
|
COSM611707 rs929885088 CA337051356 |
262 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1557371036 CA414536681 |
264 | A>P | No |
ClinGen gnomAD |
|
|
rs1557371039 CA414536687 COSM1292945 |
264 | A>V | Variant assessed as Somatic; 0.0 impact. NS central_nervous_system haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1557371041 CA414536699 |
265 | P>L | No |
ClinGen gnomAD |
|
|
CA10538389 rs45577435 |
266 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA10538388 rs374612442 |
266 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414536743 rs1603001644 |
270 | V>M | No |
ClinGen Ensembl |
|
|
CA10538390 rs781942405 |
271 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA414536758 COSM611706 rs1557371047 |
271 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA337051357 rs782773975 |
272 | Y>C | No |
ClinGen Ensembl |
|
|
CA414536798 rs1040224114 |
274 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414536795 rs1557371052 |
274 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401317206 CA414536922 |
284 | T>N | No |
ClinGen TOPMed |
|
|
rs1557371054 CA414536916 |
284 | T>S | No |
ClinGen gnomAD |
|
|
rs1169656972 CA414536951 |
287 | V>M | No |
ClinGen TOPMed |
|
|
CA10538394 rs782737761 |
291 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10538393 rs149075416 |
291 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188222125 CA414537011 |
292 | H>R | No |
ClinGen TOPMed |
|
|
rs45557437 CA337051361 |
295 | R>K | No |
ClinGen Ensembl |
|
|
CA414537075 rs1557371067 |
297 | N>K | No |
ClinGen gnomAD |
|
|
rs782177723 CA10538395 |
297 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414537122 rs1446197752 COSM3424563 |
301 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM3713802 rs143187496 CA10538396 |
301 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414537130 rs1457888931 |
302 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA337051362 rs45578531 |
303 | S>F | No |
ClinGen Ensembl |
|
|
CA10538399 rs45578436 |
304 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337051363 rs45578436 |
304 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782116149 CA10538398 |
304 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10538400 rs12010332 VAR_053495 |
306 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1193569490 CA414537167 |
306 | S>P | No |
ClinGen TOPMed |
|
|
CA337051364 rs45567349 |
310 | E>A | No |
ClinGen Ensembl |
|
|
CA10538402 rs782111183 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414537269 rs1557371077 |
314 | E>K | No |
ClinGen gnomAD |
|
|
rs782817898 CA10538405 |
319 | V>W | No |
ClinGen ExAC gnomAD |
No associated diseases with P43361
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone deacetylase binding | Binding to histone deacetylase. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43356 | MAGEA2B | Melanoma-associated antigen 2 | Homo sapiens (Human) | PR |
| O15479 | MAGEB2 | Melanoma-associated antigen B2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| Q8TD90 | MAGEE2 | Melanoma-associated antigen E2 | Homo sapiens (Human) | PR |
| Q96MG7 | NSMCE3 | Non-structural maintenance of chromosomes element 3 homolog | Homo sapiens (Human) | PR |
| Q9BZ81 | MAGEB5 | Melanoma-associated antigen B5 | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| P43364 | MAGEA11 | Melanoma-associated antigen 11 | Homo sapiens (Human) | PR |
| Q9UNF1 | MAGED2 | Melanoma-associated antigen D2 | Homo sapiens (Human) | PR |
| Q9Y5V3 | MAGED1 | Melanoma-associated antigen D1 | Homo sapiens (Human) | PR |
| Q96JG8 | MAGED4B | Melanoma-associated antigen D4 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLGQKSQRY | KAEEGLQAQG | EAPGLMDVQI | PTAEEQKAAS | SSSTLIMGTL | EEVTDSGSPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPQSPEGASS | SLTVTDSTLW | SQSDEGSSSN | EEEGPSTSPD | PAHLESLFRE | ALDEKVAELV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFLLRKYQIK | EPVTKAEMLE | SVIKNYKNHF | PDIFSKASEC | MQVIFGIDVK | EVDPAGHSYI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVTCLGLSYD | GLLGDDQSTP | KTGLLIIVLG | MILMEGSRAP | EEAIWEALSV | MGLYDGREHS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VYWKLRKLLT | QEWVQENYLE | YRQAPGSDPV | RYEFLWGPRA | LAETSYVKVL | EHVVRVNARV |
| 310 | |||||
| RISYPSLHEE | ALGEEKGV |