P43364
PR
Gene name |
MAGEA11 |
Protein name |
Melanoma-associated antigen 11 |
Names |
Cancer/testis antigen 1.11, CT1.11, MAGE-11 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4110 |
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 P43364
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6WJH | X-ray | 219 A | A/B/C/D | 218-429 | PDB |
| AF-P43364-F1 | Predicted | AlphaFoldDB |
207 variants for P43364
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10538052 rs782123949 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs142651260 CA10538054 |
4 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10538055 rs782456489 |
6 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538056 rs782796516 |
6 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557362088 CA414525579 |
8 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414525686 rs1602940215 |
13 | S>R | No |
ClinGen Ensembl |
|
|
rs782649959 CA10538059 |
15 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10538060 rs782214984 |
16 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA414525753 rs868970468 |
17 | I>F | No |
ClinGen gnomAD |
|
|
rs376083752 CA337044591 |
17 | I>T | No |
ClinGen Ensembl |
|
|
rs1557362095 CA414525843 |
21 | K>R | No |
ClinGen gnomAD |
|
|
rs1173199954 CA414525987 |
27 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1173199954 CA414525983 |
27 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10538064 rs782195407 |
31 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414526246 rs1557362242 |
35 | T>S | No |
ClinGen gnomAD |
|
|
rs144250116 CA10538084 |
36 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781896698 CA10538083 |
36 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414526331 rs73640692 |
40 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73640692 CA10538085 |
40 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414526356 rs1557362254 |
41 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1290054333 CA414526489 |
46 | E>D | No |
ClinGen TOPMed |
|
|
CA10538087 rs782352159 |
48 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414526586 rs1433065632 |
50 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10538090 rs782419454 |
50 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414526623 rs1262536420 |
52 | P>R | No |
ClinGen TOPMed |
|
|
CA10538091 rs781985679 |
55 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_080775 CA414526719 rs1557362265 |
57 | S>P | found in a family with intellectual disability; unknown pathological significance [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
| TCGA novel | 57 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782141550 CA10538092 |
58 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10538093 rs782348723 |
59 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10538094 rs781971252 |
62 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414526836 rs1557362268 |
64 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10538110 rs782239173 |
67 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1569561419 CA414528444 |
68 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782311651 CA10538111 |
70 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781945959 CA10538112 |
71 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10538113 rs782138262 |
75 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA414528628 rs1557362367 |
78 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150840682 CA10538114 |
80 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557362370 CA414528667 |
80 | T>N | No |
ClinGen gnomAD |
|
|
CA10538115 rs781981880 |
82 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs140087127 CA10538116 |
83 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414528739 rs1368181308 |
84 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 84 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368181308 CA414528736 |
84 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10538117 rs782728098 |
88 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414528899 rs1557362392 |
91 | W>L | No |
ClinGen gnomAD |
|
|
CA10538133 rs147749342 |
94 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414528920 rs147749342 |
94 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10538134 rs781954088 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs978150801 CA337044685 |
97 | I>L | No |
ClinGen Ensembl |
|
|
rs782231849 CA10538135 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10538138 rs782160877 |
101 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10538137 rs782071178 |
101 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 102 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337044686 rs782564277 |
102 | R>Q | No |
ClinGen gnomAD |
|
|
rs782802430 CA10538139 |
102 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA414529028 rs1602942810 |
107 | T>N | No |
ClinGen Ensembl |
|
|
CA414529053 rs782002280 |
109 | V>F | No |
ClinGen ExAC TOPMed |
|
|
CA10538140 rs782002280 |
109 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA414529064 rs1557362406 |
110 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414529113 rs1557362407 |
113 | L>F | No |
ClinGen gnomAD |
|
|
rs782753175 CA10538142 |
113 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs782460440 CA10538144 |
118 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs782802504 CA10538145 |
119 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10538148 rs782655074 |
121 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414529244 rs1557362413 |
121 | K>R | No |
ClinGen gnomAD |
|
|
COSM755963 rs141055931 CA10538149 |
122 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 123 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414529316 rs1473769253 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10538150 rs782493488 |
127 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10538151 rs61737275 |
130 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377373585 CA10538152 |
132 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414529435 rs1557362420 |
136 | V>M | No |
ClinGen gnomAD |
|
|
rs144917570 CA10538154 |
138 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144917570 CA10538153 |
138 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414529457 rs1321279106 |
140 | A>T | No |
ClinGen TOPMed |
|
|
rs782340624 CA10538156 |
141 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781976455 CA10538157 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10538161 rs782160369 |
146 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10538160 rs782024340 |
146 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs930017243 CA337044687 |
147 | E>K | No |
ClinGen Ensembl |
|
|
rs782755660 CA10538162 |
149 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10538164 rs782076616 |
151 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414529573 rs1557362437 |
158 | G>S | No |
ClinGen gnomAD |
|
|
rs1291219337 CA414529584 |
159 | T>I | No |
ClinGen TOPMed |
|
|
rs1557362440 CA414529605 |
162 | E>D | No |
ClinGen gnomAD |
|
|
rs782664058 CA10538168 |
163 | L>M | No |
ClinGen ExAC |
|
|
CA414529617 rs1557362443 |
164 | P>L | No |
ClinGen gnomAD |
|
|
CA414529618 rs1557362445 |
165 | A>T | No |
ClinGen gnomAD |
|
|
rs781855717 CA10538169 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs207479030 CA337044688 |
167 | E>V | No |
ClinGen Ensembl |
|
|
CA10538170 rs782521042 |
169 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs370004708 CA10538171 |
170 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414529684 rs1557362449 |
175 | P>S | No |
ClinGen gnomAD |
|
|
CA414529696 rs1459190681 |
177 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10538172 rs782226278 |
182 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538173 rs782315137 |
184 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782580746 CA10538174 |
185 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs373850281 CA337044689 |
187 | A>P | No |
ClinGen ESP |
|
| TCGA novel | 187 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10538175 rs781813293 |
188 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10538176 rs782472807 |
189 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414529781 rs200719649 |
189 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782126718 CA10538178 |
190 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782337606 CA10538179 |
191 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_053497 rs2233049 CA10538180 |
191 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10538182 rs370362756 |
194 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488192827 CA414529806 |
194 | D>Y | No |
ClinGen TOPMed |
|
|
rs782778956 CA10538185 |
204 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782156874 CA10538187 COSM1715742 |
208 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218181887 CA414529937 |
212 | I>M | No |
ClinGen TOPMed |
|
|
CA414529939 rs1361997310 |
213 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA414529948 rs868948375 |
214 | P>S | No |
ClinGen Ensembl |
|
|
CA10538190 rs782535658 |
216 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902243994 CA337044690 |
216 | S>F | No |
ClinGen Ensembl |
|
|
rs782535658 CA10538191 |
216 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557362483 CA414529986 |
220 | D>H | No |
ClinGen gnomAD |
|
|
CA10538192 rs782234120 |
226 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1116703 CA10538194 rs375829618 |
235 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782223985 CA10538195 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA337044691 rs6641350 |
238 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10538198 rs6641350 |
238 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414530203 rs1447814840 |
240 | K>N | No |
ClinGen TOPMed |
|
|
COSM1715743 rs782414735 CA10538199 |
241 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 249 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414530302 rs1484099138 |
250 | G>E | No |
ClinGen TOPMed |
|
|
CA10538200 rs782004564 |
250 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA414530301 rs782004564 |
250 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs41312624 CA10538202 |
251 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414530321 rs1209284963 |
252 | V>I | No |
ClinGen TOPMed |
|
|
rs1557362502 CA414530344 |
254 | K>E | No |
ClinGen gnomAD |
|
|
rs1557362504 CA414530390 |
257 | E>D | No |
ClinGen gnomAD |
|
|
CA414530385 rs1557362503 |
257 | E>G | No |
ClinGen gnomAD |
|
|
CA414530444 rs1307593142 |
262 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs960330821 CA414530464 |
264 | F>I | No |
ClinGen TOPMed |
|
|
rs960330821 CA337044692 |
264 | F>L | No |
ClinGen TOPMed |
|
|
rs868960320 CA414530486 |
266 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1557362508 CA414530599 |
276 | G>R | No |
ClinGen gnomAD |
|
|
rs1397030546 CA414530632 |
279 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782811762 CA10538205 |
282 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs781912143 CA10538207 |
283 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA10538210 rs782680112 |
285 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10538209 rs782519500 |
285 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10538208 rs782519500 |
285 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10538211 rs782680112 |
285 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782528051 CA10538215 |
293 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1557362514 CA414530854 |
300 | D>N | No |
ClinGen gnomAD |
|
|
rs1557362516 CA414530893 |
303 | Q>R | No |
ClinGen gnomAD |
|
|
CA414530901 rs1569561425 |
304 | C>R | No |
ClinGen Ensembl |
|
|
rs1557362518 CA414530948 |
308 | S>G | No |
ClinGen gnomAD |
|
|
rs1557362520 CA414530953 |
308 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 311 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557362521 CA414531017 |
314 | L>F | No |
ClinGen gnomAD |
|
|
rs1465926671 CA414531047 |
317 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 319 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782259230 CA10538217 |
321 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337044695 rs199749154 |
327 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1602943921 CA414531191 |
329 | I>V | No |
ClinGen Ensembl |
|
|
CA337044697 rs782177666 |
330 | P>L | No |
ClinGen 1000Genomes |
|
|
CA10538219 rs781971033 |
330 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10538220 rs782185416 |
332 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557362529 CA414531223 |
332 | E>K | No |
ClinGen gnomAD |
|
|
rs1425366787 CA414531252 |
334 | M>V | No |
ClinGen TOPMed |
|
|
CA10538221 rs782324140 |
340 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 342 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557362541 CA414531449 |
343 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414531856 rs1292105093 |
364 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 367 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782381868 CA10538231 |
373 | Q>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs199957685 CA10538233 |
374 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10538235 rs781905368 |
375 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10538239 rs782228933 |
376 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782228933 CA10538238 |
376 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10538244 rs782272936 |
382 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10538243 rs782640573 |
382 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs782334682 CA10538245 |
384 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1408120666 CA414532410 |
392 | A>V | No |
ClinGen TOPMed |
|
|
rs1569561428 CA414532549 |
399 | V>A | No |
ClinGen Ensembl |
|
|
rs1602944265 CA414532542 |
399 | V>I | No |
ClinGen Ensembl |
|
|
CA414532579 rs1557362558 |
402 | Y>H | No |
ClinGen gnomAD |
|
|
rs1557362560 CA414532616 |
405 | N>S | No |
ClinGen gnomAD |
|
|
CA10538249 rs371468510 |
406 | A>V | Variant assessed as Somatic; 0.0005032 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557362562 CA414532637 |
407 | N>S | No |
ClinGen gnomAD |
|
|
CA414532663 rs1557362563 |
410 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782165667 CA10538250 |
412 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782763686 CA10538251 |
415 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366501310 CA414532841 |
426 | G>A | No |
ClinGen TOPMed |
|
|
CA414532844 rs1163894836 |
427 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10538253 rs781827447 |
429 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557362568 CA645127642 |
430 | V>E | No |
ClinGen gnomAD |
No associated diseases with P43364
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
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 |
| Q96MG7 | NSMCE3 | Non-structural maintenance of chromosomes element 3 homolog | Homo sapiens (Human) | PR |
| Q8TD90 | MAGEE2 | Melanoma-associated antigen E2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | 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 |
| Q9BZ81 | MAGEB5 | Melanoma-associated antigen B5 | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METQFRRGGL | GCSPASIKRK | KKREDSGDFG | LQVSTMFSED | DFQSTERAPY | GPQLQWSQDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRVQVFREQA | NLEDRSPRRT | QRITGGEQVL | WGPITQIFPT | VRPADLTRVI | MPLEQRSQHC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KPEEGLQAQE | EDLGLVGAQA | LQAEEQEAAF | FSSTLNVGTL | EELPAAESPS | PPQSPQEESF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPTAMDAIFG | SLSDEGSGSQ | EKEGPSTSPD | LIDPESFSQD | ILHDKIIDLV | HLLLRKYRVK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLITKAEMLG | SVIKNYEDYF | PEIFREASVC | MQLLFGIDVK | EVDPTSHSYV | LVTSLNLSYD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GIQCNEQSMP | KSGLLIIVLG | VIFMEGNCIP | EEVMWEVLSI | MGVYAGREHF | LFGEPKRLLT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QNWVQEKYLV | YRQVPGTDPA | CYEFLWGPRA | HAETSKMKVL | EYIANANGRD | PTSYPSLYED |
| ALREEGEGV |