P43358
PR
Gene name |
MAGEA4 (MAGE4) |
Protein name |
Melanoma-associated antigen 4 |
Names |
Cancer/testis antigen 1.4, CT1.4, MAGE-4 antigen, MAGE-41 antigen, MAGE-X2 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4103 |
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
9 structures for P43358
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1I4F | X-ray | 140 A | C | 230-239 | PDB |
| 2WA0 | X-ray | 230 A | A | 101-317 | PDB |
| 6TRN | X-ray | 135 A | C | 230-239 | PDB |
| 6TRO | X-ray | 300 A | C | 230-239 | PDB |
| 7UOA | X-ray | 350 A | A | 101-317 | PDB |
| 8ES8 | EM | 265 A | P | 230-239 | PDB |
| 8ES9 | EM | 325 A | P | 230-239 | PDB |
| 8FJA | EM | 300 A | C | 230-239 | PDB |
| AF-P43358-F1 | Predicted | AlphaFoldDB |
267 variants for P43358
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10542104 rs777932203 |
2 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10542105 rs747163064 |
4 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA415036232 rs1398407698 |
5 | Q>H | No |
ClinGen gnomAD |
|
|
rs771323726 CA10542106 |
6 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1257070 CA10542107 rs781676215 |
6 | K>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 9 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1603077339 CA415036306 |
9 | H>D | No |
ClinGen Ensembl |
|
|
rs770283475 CA10542109 |
10 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA10542110 rs775799958 |
10 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs940697185 CA337164008 |
11 | K>R | No |
ClinGen TOPMed |
|
|
rs780727589 CA337164041 |
16 | V>A | No |
ClinGen Ensembl |
|
|
rs142773415 CA10542113 |
16 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542114 rs147367105 |
19 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415036498 rs1235003451 |
19 | Q>H | No |
ClinGen TOPMed |
|
|
rs767214466 CA10542115 |
22 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10542116 rs750215141 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760396181 CA10542117 |
24 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10542118 rs766211889 |
25 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542119 rs753670573 |
27 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753670573 CA10542120 |
27 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772345662 CA10542122 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746953197 CA10542125 |
30 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3964891 rs61743686 CA415036690 |
31 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10542126 rs61743686 |
31 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542127 rs149323734 |
33 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542128 rs749725686 |
34 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1339350323 CA415036757 |
35 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218646416 CA415036769 |
36 | Q>K | No |
ClinGen gnomAD |
|
|
rs759301904 CA337164242 |
38 | A>V | No |
ClinGen 1000Genomes |
|
|
rs773721297 CA10542131 |
40 | V>D | No |
ClinGen ExAC |
|
|
rs1332162382 CA415036837 |
40 | V>L | No |
ClinGen gnomAD |
|
|
rs41302158 CA10542133 |
41 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415036878 rs1394550271 |
42 | S>F | No |
ClinGen TOPMed |
|
|
rs1326265247 CA415036863 |
42 | S>P | No |
ClinGen gnomAD |
|
|
CA10542134 rs148498181 |
43 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337164288 rs148498181 |
43 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337164308 rs1011469187 |
44 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10542136 rs201754404 |
45 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194395595 CA415036913 |
45 | P>R | No |
ClinGen gnomAD |
|
|
rs1603077860 CA415036960 |
48 | P>L | No |
ClinGen Ensembl |
|
|
rs1162856882 CA415036951 |
48 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10542141 rs757344806 |
52 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs750630461 CA10542143 |
53 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767725718 CA10542142 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370000858 CA337164366 |
56 | A>P | No |
ClinGen Ensembl |
|
|
rs146569098 CA10542144 |
58 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337164368 rs965542291 |
59 | S>A | No |
ClinGen TOPMed |
|
|
rs902813744 CA337164378 |
59 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780257307 CA10542145 |
60 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415037270 rs1204970211 |
61 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 62 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866841383 CA337164379 |
62 | P>L | No |
ClinGen Ensembl |
|
|
rs1343315332 CA415037319 |
63 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295722820 CA415037488 |
67 | Q>K | No |
ClinGen gnomAD |
|
|
CA10542146 rs199930521 |
68 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415037554 rs1214107141 |
69 | A>T | No |
ClinGen gnomAD |
|
|
rs1356208506 CA415037617 |
70 | S>F | No |
ClinGen TOPMed |
|
|
rs748667370 CA10542149 |
72 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10542148 rs779325818 |
72 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM317601 rs763607469 CA10542150 |
73 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs763607469 CA10542151 |
73 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759446643 CA10542155 |
79 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10542156 rs764951617 |
79 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs894216993 CA337164463 |
82 | R>G | No |
ClinGen TOPMed |
|
|
CA415038011 rs1473656050 |
84 | P>L | No |
ClinGen gnomAD |
|
|
CA415038003 rs1369212572 |
84 | P>S | No |
ClinGen gnomAD |
|
|
CA10542158 rs763013442 |
85 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542157 rs377413340 |
85 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750579206 CA10542160 |
89 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA415038136 rs1399522344 |
90 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA337164568 rs1012644716 |
91 | Q>E | No |
ClinGen TOPMed |
|
|
CA10542161 rs756275786 |
91 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766690180 CA10542162 |
93 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA415038220 rs1165696192 |
95 | G>E | No |
ClinGen gnomAD |
|
|
CA10542163 rs754011082 |
95 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542164 rs755313244 |
96 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1241585987 CA415038259 |
97 | S>G | No |
ClinGen gnomAD |
|
|
CA415038267 rs1263001898 |
97 | S>I | No |
ClinGen gnomAD |
|
|
CA337164587 rs373757058 |
98 | T>A | No |
ClinGen Ensembl |
|
|
COSM1715799 CA10542166 rs200774631 |
99 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA10542167 rs200774631 |
99 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140138379 CA10542169 |
100 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA337164618 rs770490747 |
102 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770490747 CA10542170 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542171 rs776285619 |
103 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440075486 CA415038412 |
104 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA337164622 rs778217233 |
105 | L>F | No |
ClinGen Ensembl |
|
|
rs866271621 CA415038485 |
106 | F>L | No |
ClinGen gnomAD |
|
|
CA10542173 rs769670092 |
107 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229257730 CA415038494 |
108 | E>K | No |
ClinGen TOPMed |
|
|
rs775463116 CA10542174 |
109 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA415038528 rs1444188064 |
110 | L>F | No |
ClinGen gnomAD |
|
|
CA415038565 rs1330234655 |
111 | S>T | No |
ClinGen gnomAD |
|
|
rs199755286 CA10542176 |
112 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603078454 CA415038664 |
113 | K>E | No |
ClinGen Ensembl |
|
|
CA415038749 rs1447905208 |
115 | D>A | No |
ClinGen gnomAD |
|
|
rs1309791405 CA415038940 |
118 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10542177 rs773420574 |
119 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143837393 COSM1725426 CA10542180 |
123 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759710688 CA10542181 |
123 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10542182 rs765557256 |
126 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542184 rs151294389 |
126 | R>Q | Variant assessed as Somatic; 0.0001249 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA337164753 rs1004465742 |
127 | A>V | No |
ClinGen gnomAD |
|
|
CA415039295 rs766749023 |
129 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10542186 rs752017073 |
130 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771228306 CA337164803 |
132 | T>R | No |
ClinGen Ensembl |
|
|
rs181401508 CA10542187 |
134 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415039504 VAR_076262 rs1224431639 |
137 | L>Q | No |
ClinGen UniProt TOPMed dbSNP |
|
| TCGA novel | 137 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151060324 CA337164824 CA10542188 |
139 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542189 rs745500251 |
140 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1169533589 CA415039551 |
140 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769617094 CA10542190 |
141 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779980180 CA10542191 |
142 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs749161613 CA10542192 |
142 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415039592 rs749161613 |
142 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388993055 CA415039637 |
143 | N>Y | No |
ClinGen gnomAD |
|
|
CA415039673 rs1386743116 |
144 | Y>D | No |
ClinGen gnomAD |
|
|
rs1302579269 CA415039719 |
145 | K>E | No |
ClinGen gnomAD |
|
|
CA10542193 rs768575994 |
146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10542194 rs200822743 |
146 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10542195 rs200822743 |
146 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415039810 rs1386316595 |
147 | C>S | No |
ClinGen TOPMed |
|
|
CA415039890 rs1277812089 |
148 | F>L | No |
ClinGen gnomAD |
|
|
rs771004302 CA10542196 |
149 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10542198 rs759733983 |
150 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs765504023 CA415040184 |
152 | F>L | No |
ClinGen ExAC gnomAD |
|
| VAR_036582 | 153 | G>D | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs200025917 CA10542200 |
153 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745602686 CA337164965 |
154 | K>R | No |
ClinGen Ensembl |
|
|
rs763240762 CA10542201 |
155 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752062577 CA10542203 |
158 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs772388956 CA337164989 |
158 | S>C | No |
ClinGen Ensembl |
|
|
CA10542204 rs757742313 |
161 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs999831144 CA337165015 |
166 | D>G | No |
ClinGen Ensembl |
|
|
CA10542206 rs778001194 |
167 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10542205 rs778001194 |
167 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247912630 CA415040674 |
169 | E>K | No |
ClinGen TOPMed |
|
|
CA10542207 rs755823543 |
170 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1367934001 CA415040737 |
171 | D>N | No |
ClinGen gnomAD |
|
|
CA415040784 rs955972890 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA337165084 rs955972890 |
172 | P>T | No |
ClinGen gnomAD |
|
|
CA415040854 rs1047251 |
173 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1047251 VAR_004284 CA10542210 |
173 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10542211 rs778605916 |
174 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569449545 CA415040928 |
174 | S>R | No |
ClinGen Ensembl |
|
|
CA415040969 rs1209700266 |
175 | N>S | No |
ClinGen TOPMed |
|
|
rs971230346 CA337165096 |
176 | T>I | No |
ClinGen TOPMed |
|
|
rs748090014 CA10542212 |
177 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10542213 rs61743726 |
178 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746017699 CA10542215 |
181 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs938015724 CA337165139 |
182 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263321883 CA415041126 |
184 | G>A | No |
ClinGen gnomAD |
|
|
rs1486558286 CA415041142 |
185 | L>V | No |
ClinGen gnomAD |
|
|
CA415041218 rs1220711197 |
186 | S>C | No |
ClinGen TOPMed |
|
|
CA10542218 rs199657597 COSM755891 |
187 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10542220 rs199657597 |
187 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10542219 rs199657597 |
187 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10542222 rs141071979 |
191 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415041569 rs1435266182 |
195 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415041643 rs1300504176 |
198 | P>A | No |
ClinGen TOPMed |
|
|
CA415041674 rs1158544241 |
199 | K>Q | No |
ClinGen gnomAD |
|
|
CA415041703 rs1361328588 |
200 | T>I | No |
ClinGen gnomAD |
|
|
CA415041726 rs1301318947 |
202 | L>F | No |
ClinGen gnomAD |
|
|
rs753502144 CA10542227 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1117051 rs866165760 CA337165239 |
206 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10542230 rs747954097 |
209 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390174991 CA415042069 |
213 | E>D | No |
ClinGen TOPMed |
|
|
CA337165256 rs947215844 |
213 | E>V | No |
ClinGen TOPMed |
|
|
rs371047147 CA337165262 COSM1214213 |
215 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs61746135 CA415042141 |
216 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374430540 CA10542233 |
217 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775207650 CA337165282 |
217 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
| TCGA novel | 220 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337165295 rs889502225 |
224 | E>K | No |
ClinGen Ensembl |
|
|
CA10542235 rs143158098 |
225 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749487190 CA10542236 |
227 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749487190 CA337165303 |
227 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542237 rs768816689 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773875619 VAR_078319 CA10542239 |
230 | G>E | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA10542238 rs768259232 |
230 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM268421 rs150785634 CA10542243 CA10542242 |
231 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10542245 rs754647855 |
233 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572691118 CA415042577 |
235 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572691118 CA10542246 |
235 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337165364 rs866684589 |
236 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 237 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542247 rs139539716 |
238 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142730380 CA10542248 |
240 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777650849 CA10542249 |
242 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767351911 CA337165395 |
247 | L>V | No |
ClinGen Ensembl |
|
|
CA10542251 rs757230613 |
248 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415043072 rs1216992794 |
248 | T>S | No |
ClinGen gnomAD |
|
|
rs146055714 CA10542252 |
250 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337165405 rs866442676 |
251 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 251 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749434238 CA10542253 |
254 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA415043336 rs1233985788 |
255 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1569449720 CA415043364 |
256 | Y>F | No |
ClinGen Ensembl |
|
|
rs748423582 CA10542256 |
259 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145834905 CA337165471 |
260 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145834905 CA10542258 |
260 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772283795 CA10542257 |
260 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771624598 CA10542260 |
262 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs761242053 CA10542259 |
262 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415043516 rs1274181760 |
264 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA415043507 rs148549437 |
264 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542263 rs148549437 |
264 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542265 rs762630453 |
265 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415043541 rs1224756033 |
265 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10542266 rs200666877 |
266 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201017700 CA10542267 |
267 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190319017 CA10542268 COSM1117052 |
268 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10542271 rs755062941 COSM1490609 |
269 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs151108304 CA10542272 |
269 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141140102 RCV000896048 CA10542273 |
270 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs891467605 CA337165561 |
270 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 276 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542277 rs771415744 |
277 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA415043841 rs771415744 |
277 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324463477 CA415043875 |
279 | L>Q | No |
ClinGen gnomAD |
|
|
CA10542280 rs769223687 |
280 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 280 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775020136 CA10542281 |
283 | S>T | No |
ClinGen ExAC |
|
|
CA10542282 rs762530888 |
284 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415043993 rs762530888 |
284 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs763672752 CA415044072 |
288 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA337165656 rs938578178 |
289 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs367779834 CA10542285 |
292 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415044146 rs1341926841 |
293 | R>G | No |
ClinGen gnomAD |
|
|
CA10542286 rs767279676 |
293 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750367920 CA10542287 |
294 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10542288 rs768419102 |
295 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA337165727 rs951864399 |
296 | A>G | No |
ClinGen Ensembl |
|
|
CA415044286 rs1225342823 COSM3406077 |
299 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA415044305 COSM1117053 rs1329712281 |
299 | R>H | lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10542289 rs778880264 |
300 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10542290 rs752763771 |
301 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199759051 CA10542291 |
302 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415044384 rs1387879052 |
303 | P>L | No |
ClinGen TOPMed |
|
|
rs1244005052 CA415044387 |
304 | S>T | No |
ClinGen gnomAD |
|
|
rs1456754982 CA415044417 |
305 | L>P | No |
ClinGen TOPMed |
|
|
rs747218857 CA10542293 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10542294 rs757742093 |
306 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1426512834 CA415044483 |
308 | A>V | No |
ClinGen gnomAD |
|
|
CA10542295 rs781659856 |
310 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA415044535 rs1161641168 |
312 | E>G | No |
ClinGen TOPMed |
|
|
rs746388689 CA10542296 |
312 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10542297 rs147562044 |
314 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542298 rs142110631 |
316 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748897879 CA415044587 |
317 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748897879 CA415044586 |
317 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748897879 CA10542299 |
317 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603080208 CA415044618 |
318 | V>S | No |
ClinGen Ensembl |
|
|
rs768537377 CA10542300 |
318 | V>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with P43358
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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| 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. |
| positive regulation of cell cycle | Any process that activates or increases the rate or extent of progression through the cell cycle. |
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 |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | 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 |
| MSSEQKSQHC | KPEEGVEAQE | EALGLVGAQA | PTTEEQEAAV | SSSSPLVPGT | LEEVPAAESA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GPPQSPQGAS | ALPTTISFTC | WRQPNEGSSS | QEEEGPSTSP | DAESLFREAL | SNKVDELAHF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLRKYRAKEL | VTKAEMLERV | IKNYKRCFPV | IFGKASESLK | MIFGIDVKEV | DPASNTYTLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TCLGLSYDGL | LGNNQIFPKT | GLLIIVLGTI | AMEGDSASEE | EIWEELGVMG | VYDGREHTVY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEPRKLLTQD | WVQENYLEYR | QVPGSNPARY | EFLWGPRALA | ETSYVKVLEH | VVRVNARVRI |
| 310 | |||||
| AYPSLREAAL | LEEEEGV |