P43363
PR
Gene name |
MAGEA10 (MAGE10) |
Protein name |
Melanoma-associated antigen 10 |
Names |
Cancer/testis antigen 1.10, CT1.10, MAGE-10 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4109 |
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
4 structures for P43363
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7PBC | X-ray | 204 A | EEE | 254-262 | PDB |
| 7PDW | X-ray | 182 A | EEE/JJJ | 254-262 | PDB |
| 7QPJ | X-ray | 154 A | E | 254-262 | PDB |
| AF-P43363-F1 | Predicted | AlphaFoldDB |
247 variants for P43363
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs757353420 CA10543011 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781471162 CA10543012 |
2 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs183488441 CA10543010 |
3 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543009 rs148914808 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA415280399 rs1569471515 |
5 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 6 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415280394 rs1415661106 |
6 | K>E | No |
ClinGen gnomAD |
|
|
CA10543008 rs376230948 |
7 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM206217 rs145553450 CA10543007 |
7 | R>H | lung large_intestine Variant assessed as Somatic; 0.0003193 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145553450 CA337496487 |
7 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543006 COSM1257063 rs766357263 |
9 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10543005 rs760453323 |
9 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337496486 rs766357263 |
9 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435131641 CA415280368 |
10 | C>F | No |
ClinGen gnomAD |
|
|
CA10543004 rs773061544 |
13 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10543003 rs771907807 |
15 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA337496485 rs866836799 |
18 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10542999 rs768011654 |
19 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768011654 CA415280307 |
19 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199853077 CA415280296 |
20 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 22 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776537677 CA337496484 |
23 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs748856300 CA10542998 |
24 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221524799 CA415280263 |
25 | L>H | No |
ClinGen TOPMed |
|
|
rs372755429 COSM1643985 CA10542996 |
26 | E>K | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs746380725 CA10542995 |
28 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs746380725 CA337496482 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA415280233 rs1439586726 |
30 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415280227 rs1392162237 |
31 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259156651 CA415280212 |
34 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 35 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415280192 rs1333241230 |
36 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10542994 rs781351693 |
38 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10542993 rs143413048 |
38 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199974088 CA337496481 |
44 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1161878074 CA415280138 |
45 | S>I | No |
ClinGen TOPMed |
|
|
CA10542991 rs773216378 |
46 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415280111 rs1569471424 |
49 | P>L | No |
ClinGen Ensembl |
|
|
CA415280105 rs1457001565 |
50 | S>F | No |
ClinGen TOPMed |
|
|
CA337496478 rs916219815 |
51 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369588146 CA337496477 |
53 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1240123036 CA415280090 |
53 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA415280085 rs1183097912 |
54 | S>P | No |
ClinGen gnomAD |
|
|
rs1271321251 CA415280070 |
56 | S>C | No |
ClinGen gnomAD |
|
|
rs1603182584 CA415280064 |
57 | S>F | No |
ClinGen Ensembl |
|
|
CA10542986 rs766302328 |
58 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10542984 rs750389786 |
59 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542985 rs750389786 |
59 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337496476 rs911106902 |
62 | S>F | No |
ClinGen TOPMed |
|
|
rs1442829230 CA415280039 |
62 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1556387753 CA10542979 |
63 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 65 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542976 rs773844290 |
68 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768413554 CA10542975 |
69 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 72 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542973 rs775072205 |
76 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1375866693 CA415279868 |
76 | A>T | No |
ClinGen gnomAD |
|
|
rs775072205 CA415279863 |
76 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1358009209 CA415279862 |
77 | D>Y | No |
ClinGen TOPMed |
|
|
CA10542972 rs769440760 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746325749 CA10542971 |
84 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs867518742 CA337496475 |
85 | Q>K | No |
ClinGen Ensembl |
|
|
CA415279760 rs376173074 |
86 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376173074 CA10542969 |
86 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542968 rs777848689 |
90 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1267517258 CA415279719 |
90 | A>P | No |
ClinGen TOPMed |
|
|
CA10542967 rs777848689 |
90 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748376871 CA10542965 |
91 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA10542966 rs200703002 |
91 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415279694 rs1185001990 |
92 | S>F | No |
ClinGen TOPMed |
|
|
rs1209625907 CA415279702 |
92 | S>T | No |
ClinGen gnomAD |
|
|
CA10542964 rs201745611 |
93 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748262488 CA337496474 |
95 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748262488 CA10542960 |
95 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415279669 rs1418868469 |
95 | S>T | No |
ClinGen TOPMed |
|
|
rs751437238 CA10542958 |
97 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10542957 rs763984309 |
98 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs763984309 CA415279637 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA337496473 rs866347309 |
99 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA415279626 rs1312061187 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA415279592 rs1413167444 |
103 | D>E | No |
ClinGen gnomAD |
|
|
rs755172887 CA337496472 |
103 | D>G | No |
ClinGen 1000Genomes |
|
|
rs915438463 CA337496471 |
104 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs267606385 CA337496470 |
105 | S>F | No |
ClinGen Ensembl |
|
|
CA10542955 rs762635118 |
106 | D>V | No |
ClinGen ExAC |
|
|
CA10542954 rs775301637 |
107 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867009635 CA337496469 |
110 | S>G | No |
ClinGen Ensembl |
|
|
rs373155792 CA337496468 |
111 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10542953 rs764797687 |
112 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs776976782 CA10542951 |
113 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759153084 COSM1257062 CA10542952 |
113 | K>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA10542950 rs374907730 |
117 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773562498 CA10542948 |
120 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337496467 rs1017516985 |
121 | Q>K | No |
ClinGen gnomAD |
|
|
CA10542947 rs369858882 |
124 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1341935388 CA415279298 |
129 | L>S | No |
ClinGen TOPMed |
|
|
rs1014438015 CA337496466 |
130 | P>L | No |
ClinGen TOPMed |
|
|
rs1245106857 CA415279262 |
132 | S>N | No |
ClinGen TOPMed |
|
|
rs1569471297 CA415279254 |
133 | E>K | No |
ClinGen Ensembl |
|
|
rs377180452 CA415279243 |
134 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377180452 CA10542946 |
134 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 139 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 140 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234996446 CA415279165 |
141 | L>F | No |
ClinGen gnomAD |
|
|
rs755021278 CA10542944 |
142 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs867982556 CA337496465 |
147 | F>S | No |
ClinGen Ensembl |
|
|
CA415279112 rs1289628048 |
149 | Y>C | No |
ClinGen gnomAD |
|
|
rs757151645 CA10542941 |
150 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569471277 CA415279096 |
151 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10542940 rs751464289 |
151 | M>T | No |
ClinGen ExAC |
|
|
CA10542939 rs763931203 |
152 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA415279079 rs1267389410 |
153 | E>D | No |
ClinGen gnomAD |
|
|
rs758297801 CA10542938 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394457101 CA415279071 |
155 | I>F | No |
ClinGen gnomAD |
|
|
CA10542935 rs758952037 |
155 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1480586254 CA415279066 |
156 | T>A | No |
ClinGen TOPMed |
|
|
CA10542934 rs776275648 |
162 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756555479 CA10542933 |
163 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761189502 CA10542932 |
163 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773732678 CA10542931 |
165 | I>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_024528 CA10542930 rs210585 |
166 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415279000 rs210585 |
166 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762205693 COSM1117088 CA10542929 |
167 | N>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA10542928 rs774535111 |
169 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542927 rs768932478 |
172 | F>L | No |
ClinGen ExAC |
|
|
CA415278949 rs1383547419 |
173 | P>S | No |
ClinGen TOPMed |
|
|
CA10542925 rs149860947 |
178 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10542924 rs149860947 |
178 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169285561 CA415278909 |
179 | A>T | No |
ClinGen TOPMed |
|
|
rs777894946 CA10542922 |
181 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415278886 rs1404113835 |
182 | C>Y | No |
ClinGen TOPMed |
|
|
rs1296044581 CA415278881 |
183 | M>V | No |
ClinGen gnomAD |
|
|
rs150729017 CA415278873 |
184 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA337496461 rs1025009431 |
185 | L>V | No |
ClinGen Ensembl |
|
|
rs752593390 CA10542920 |
186 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 188 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305689666 CA415278838 |
190 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs902220747 CA337496460 |
191 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10542915 rs760135991 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA415278817 rs760135991 |
193 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1355409389 CA415278808 COSM1556702 |
194 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10542914 rs750900691 |
195 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10542913 rs768061289 |
200 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 202 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409002357 CA415278750 |
203 | L>F | No |
ClinGen gnomAD |
|
|
rs1417013177 CA415278744 |
204 | V>F | No |
ClinGen gnomAD |
|
|
CA10542910 rs142008219 |
216 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10542909 rs763184135 |
218 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337496458 rs910877073 |
219 | Q>* | No |
ClinGen TOPMed |
|
|
rs1451532461 CA415278641 |
220 | S>G | No |
ClinGen TOPMed |
|
|
rs1360761928 CA415278581 |
228 | I>M | No |
ClinGen TOPMed |
|
|
rs933895260 CA415278582 |
228 | I>R | No |
ClinGen TOPMed |
|
|
rs933895260 CA337496456 |
228 | I>T | No |
ClinGen TOPMed |
|
|
rs745981774 CA10542906 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA415278561 rs1305952753 |
232 | S>C | No |
ClinGen gnomAD |
|
|
CA415278560 rs1282686587 |
232 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10542904 rs777835646 |
233 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542903 rs772198855 |
233 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415278555 rs777835646 |
233 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_053496 CA10542902 rs210586 |
234 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415278550 rs210586 |
234 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA337496455 rs1042514545 |
237 | E>D | No |
ClinGen Ensembl |
|
|
rs200325353 CA10542901 |
237 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754755138 CA10542900 |
239 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10542899 rs753491437 |
242 | P>R | No |
ClinGen ExAC |
|
| TCGA novel | 243 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377688064 CA415278484 |
244 | E>K | No |
ClinGen gnomAD |
|
|
CA337496454 rs945166120 |
245 | V>I | No |
ClinGen Ensembl |
|
|
CA10542898 rs772987237 |
246 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415278459 rs1603181851 |
247 | W>* | No |
ClinGen Ensembl |
|
|
CA415278433 rs1212225610 |
251 | N>S | No |
ClinGen TOPMed |
|
|
CA415278407 rs1393887443 |
254 | G>A | No |
ClinGen gnomAD |
|
|
rs1393887443 CA415278408 |
254 | G>E | No |
ClinGen gnomAD |
|
|
CA645291939 rs1434964956 |
254 | G>I | No |
ClinGen gnomAD |
|
|
CA10542897 rs755628514 |
255 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313281315 CA415278400 |
256 | Y>H | No |
ClinGen TOPMed |
|
|
rs866425773 CA337496453 |
257 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10542894 rs143177343 |
258 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 258 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764477700 CA10542892 |
261 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs765431558 CA10542889 |
273 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA415278281 rs1484937319 |
273 | Q>R | No |
ClinGen TOPMed |
|
|
CA415278210 rs1189656070 |
282 | E>D | No |
ClinGen gnomAD |
|
|
rs768468815 CA10542883 |
284 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146467787 CA10542884 |
284 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542882 rs202016657 |
285 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10542881 rs201253472 |
286 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs755790460 CA10542880 |
287 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756789226 CA10542877 |
289 | S>R | No |
ClinGen ExAC |
|
|
CA10542878 rs371673293 |
289 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10542876 rs752028683 |
290 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758774248 CA10542874 |
291 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1188457875 CA415278154 |
292 | A>T | No |
ClinGen gnomAD |
|
|
CA415278150 rs149591320 |
293 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10542872 rs200418003 COSM1756440 |
293 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10542873 rs149591320 |
293 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759778284 CA10542871 |
294 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415278132 rs1404914723 |
296 | F>L | No |
ClinGen TOPMed |
|
|
rs1260234806 CA415278105 |
299 | G>V | No |
ClinGen gnomAD |
|
|
rs766529255 CA10542869 |
302 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1281877825 CA415278084 |
303 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760879446 CA10542868 |
304 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA337496450 COSM1556704 rs867080597 |
305 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs768534650 CA10542866 |
309 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384964263 CA415278008 |
314 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866732870 CA337496447 |
316 | A>V | No |
ClinGen Ensembl |
|
|
CA415277987 rs1569471103 |
317 | K>Q | No |
ClinGen Ensembl |
|
|
CA10542864 rs775088145 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs769599579 CA337496446 |
320 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10542863 rs769599579 |
320 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415277954 rs1490196616 |
322 | D>Y | No |
ClinGen TOPMed |
|
|
CA337496445 rs866235171 |
323 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1198635376 CA415277905 |
329 | W>C | No |
ClinGen TOPMed |
|
|
rs972528729 CA337496443 |
330 | Y>C | No |
ClinGen Ensembl |
|
|
rs745481385 COSM1569634 CA10542862 |
334 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780861236 CA10542861 |
337 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756735659 CA10542860 |
338 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1473486948 CA415277829 |
338 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337496442 rs963501229 |
344 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751679256 CA337496441 |
348 | T>A | No |
ClinGen TOPMed |
|
|
CA415277691 rs1398559928 |
349 | D>G | No |
ClinGen TOPMed |
|
|
rs1320897948 CA415277649 |
352 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1470196141 CA415277624 |
354 | M>I | No |
ClinGen gnomAD |
|
|
CA415277607 rs1569471083 |
355 | A>V | No |
ClinGen Ensembl |
|
|
CA415277584 rs1274311580 |
357 | A>G | No |
ClinGen gnomAD |
|
|
CA337496440 rs1017141076 |
357 | A>T | No |
ClinGen Ensembl |
|
|
CA10542857 rs367772567 |
358 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs199597806 CA337496439 |
358 | S>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA337496438 rs138141548 |
360 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201636610 CA10542854 |
361 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10542853 rs764386887 |
362 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432314761 CA415277479 |
366 | S>F | No |
ClinGen gnomAD |
|
|
CA415277482 rs1569471064 |
366 | S>P | No |
ClinGen Ensembl |
|
|
rs780333247 CA10542852 |
367 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with P43363
3 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. |
| 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 |
| 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 |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | 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 |
| MPRAPKRQRC | MPEEDLQSQS | ETQGLEGAQA | PLAVEEDASS | STSTSSSFPS | SFPSSSSSSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSCYPLIPST | PEEVSADDET | PNPPQSAQIA | CSSPSVVASL | PLDQSDEGSS | SQKEESPSTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVLPDSESLP | RSEIDEKVTD | LVQFLLFKYQ | MKEPITKAEI | LESVIRNYED | HFPLLFSEAS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECMLLVFGID | VKEVDPTGHS | FVLVTSLGLT | YDGMLSDVQS | MPKTGILILI | LSIVFIEGYC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TPEEVIWEAL | NMMGLYDGME | HLIYGEPRKL | LTQDWVQENY | LEYRQVPGSD | PARYEFLWGP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAHAEIRKMS | LLKFLAKVNG | SDPRSFPLWY | EEALKDEEER | AQDRIATTDD | TTAMASASSS |
| ATGSFSYPE |