P43360
PR
Gene name |
MAGEA6 |
Protein name |
Melanoma-associated antigen 6 |
Names |
Cancer/testis antigen 1.6, CT1.6, MAGE-6 antigen, MAGE3B antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4105 |
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
1 structures for P43360
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P43360-F1 | Predicted | AlphaFoldDB |
348 variants for P43360
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs782139088 CA415283892 |
2 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489928840 CA415283861 |
6 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252962121 CA415283839 |
9 | H>R | No |
ClinGen TOPMed |
|
|
CA10543756 rs1480543633 |
10 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1416610321 CA415283809 |
13 | E>V | No |
ClinGen TOPMed |
|
|
CA415283806 rs1424992882 |
14 | E>K | No |
ClinGen TOPMed |
|
|
rs1602892801 CA415283784 |
17 | E>G | No |
ClinGen Ensembl |
|
|
rs1384113517 CA415283774 |
19 | R>G | No |
ClinGen TOPMed |
|
|
rs782686360 CA415283771 |
19 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415283767 rs1309537212 |
20 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1556825958 CA10543757 |
21 | E>Q | No |
ClinGen TOPMed |
|
|
CA415283752 rs1441215827 |
22 | A>G | No |
ClinGen TOPMed |
|
|
CA415283733 rs1296318507 |
26 | V>L | No |
ClinGen TOPMed |
|
|
CA415283725 rs1381275490 |
27 | G>D | No |
ClinGen TOPMed |
|
|
CA10543758 rs782541530 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1357433733 CA415283717 |
29 | Q>* | No |
ClinGen TOPMed |
|
|
rs1556837109 CA415283712 |
29 | Q>H | No |
ClinGen gnomAD |
|
|
rs1556825977 CA10543760 |
31 | P>S | No |
ClinGen TOPMed |
|
|
CA415283700 rs1556837106 |
32 | A>S | No |
ClinGen gnomAD |
|
|
rs1556837103 CA415283685 |
34 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307221721 CA415283670 |
37 | E>K | No |
ClinGen TOPMed |
|
|
rs1307221721 CA415283669 |
37 | E>Q | No |
ClinGen TOPMed |
|
|
rs1556837098 CA415283659 |
38 | A>D | No |
ClinGen gnomAD |
|
|
CA415283640 rs1183571356 |
41 | S>Y | No |
ClinGen TOPMed |
|
|
rs1241978555 CA415283638 |
42 | S>T | No |
ClinGen TOPMed |
|
|
CA415283628 rs1556837091 |
43 | S>C | No |
ClinGen gnomAD |
|
|
CA415283627 rs1556837091 |
43 | S>F | No |
ClinGen gnomAD |
|
|
rs1442316680 CA415283624 |
44 | T>A | No |
ClinGen TOPMed |
|
|
CA415283621 rs1556837086 |
44 | T>I | No |
ClinGen gnomAD |
|
|
CA415283619 rs782572219 |
45 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556837084 CA415283611 |
46 | V>A | No |
ClinGen Ensembl |
|
|
rs782786315 CA415283600 |
48 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781910432 CA415283594 |
49 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1556837082 CA415283588 |
50 | L>M | No |
ClinGen gnomAD |
|
|
rs782359729 CA415283584 |
51 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415283566 rs1602892600 |
53 | V>G | No |
ClinGen Ensembl |
|
|
rs782126107 CA10543769 |
53 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782126107 CA415283570 |
53 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415283547 rs1437370832 |
57 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1556826066 CA10543771 |
57 | E>V | No |
ClinGen TOPMed |
|
|
CA10543773 rs144224278 |
60 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415283518 rs1556837077 |
61 | P>L | No |
ClinGen gnomAD |
|
|
CA415283522 rs782277234 |
61 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1556837076 CA415283514 |
62 | P>H | No |
ClinGen gnomAD |
|
|
CA415283517 rs1213071787 |
62 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA415283510 rs782220738 |
63 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA415283505 rs372586300 |
63 | Q>H | No |
ClinGen ESP |
|
|
CA415283493 rs782585304 |
65 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1556837072 CA415283485 |
66 | Q>H | No |
ClinGen gnomAD |
|
|
rs782536450 CA415283488 |
66 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281143565 CA415283474 |
68 | A>G | No |
ClinGen TOPMed |
|
|
CA415283478 rs782246594 |
68 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1313216054 CA415283467 |
69 | S>F | No |
ClinGen TOPMed |
|
|
CA415283466 rs1556837067 |
70 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415283462 rs1556837065 |
70 | S>T | No |
ClinGen gnomAD |
|
|
CA10543777 rs1556826107 |
71 | L>P | No |
ClinGen TOPMed |
|
|
CA415283458 rs782689459 |
71 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556826115 CA10543778 |
72 | P>L | No |
ClinGen TOPMed |
|
|
rs781810011 CA415283439 |
75 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA415283442 rs1189962422 |
75 | M>T | No |
ClinGen TOPMed |
|
|
CA10543781 rs1556826131 |
75 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415283433 rs1556837057 |
76 | N>S | No |
ClinGen TOPMed |
|
|
rs368630251 CA10543782 |
77 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415283428 rs1242296826 |
77 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA415283422 rs1474857032 |
78 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782480469 CA10543783 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415283415 rs1184454686 |
80 | W>R | No |
ClinGen TOPMed |
|
|
CA10543784 rs1556826153 |
81 | S>N | No |
ClinGen TOPMed |
|
|
CA415283400 rs1470186131 |
82 | Q>E | No |
ClinGen TOPMed |
|
|
rs1556826160 CA10543786 |
83 | S>C | No |
ClinGen TOPMed |
|
|
rs1556826160 CA10543785 |
83 | S>F | No |
ClinGen TOPMed |
|
|
CA415283379 rs1344736453 |
85 | E>G | No |
ClinGen TOPMed |
|
|
rs782130668 CA10543789 |
86 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782130668 CA337600334 |
86 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415283352 rs1556837047 |
89 | N>S | No |
ClinGen gnomAD |
|
|
rs782159553 CA415283333 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145513270 CA415283317 |
94 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA415283320 rs1331878324 |
94 | G>R | No |
ClinGen TOPMed |
|
|
rs145513270 CA337600317 |
94 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782047644 CA415283300 |
97 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1556826200 CA337600301 |
99 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415283294 rs782334832 |
99 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA415283279 rs191749187 |
102 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3843911 CA415283281 rs1445974301 |
102 | E>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA415283271 rs1556837032 |
103 | S>C | No |
ClinGen gnomAD |
|
|
CA415283266 COSM3406088 rs782437768 |
104 | E>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782589069 CA415283268 |
104 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782278200 CA10543800 |
104 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA337600276 rs782278200 |
104 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 106 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782603597 CA415283244 |
107 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA10543801 rs1556826228 |
108 | A>G | No |
ClinGen TOPMed |
|
|
rs781899981 CA10543802 |
109 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs372486430 CA415283230 |
110 | S>N | No |
ClinGen ESP ExAC |
|
|
CA415283233 rs1426992886 |
110 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415283220 rs1473519313 |
112 | K>E | No |
ClinGen TOPMed |
|
|
CA415283215 rs1556837019 |
112 | K>N | No |
ClinGen gnomAD |
|
|
CA10543805 rs782444112 |
113 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs782444112 CA337600254 |
113 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA415283205 rs782740130 |
114 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs35014283 CA337600246 |
115 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543806 rs35014283 RCV000958263 |
115 | K>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs35014283 CA10543807 |
115 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543808 rs1556826257 |
115 | K>R | No |
ClinGen TOPMed |
|
|
rs1556837014 CA415283175 |
119 | F>L | No |
ClinGen gnomAD |
|
|
rs1556826265 CA415283181 |
119 | F>L | No |
ClinGen TOPMed |
|
|
rs782167376 CA415283167 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA415283169 rs782167376 |
121 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1556826282 CA10543812 |
123 | K>Q | No |
ClinGen TOPMed |
|
|
CA415283152 rs1352763080 |
124 | Y>C | No |
ClinGen TOPMed |
|
|
COSM261880 CA10543813 rs782328819 |
125 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA337600231 rs782174313 |
125 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10543815 rs782174313 |
125 | R>Q | Variant assessed as Somatic; 6.248e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415283142 rs782245197 |
126 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782683188 CA10543819 COSM1117155 |
129 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA415283127 rs1556837008 |
129 | P>S | No |
ClinGen gnomAD |
|
|
rs140766415 CA10543824 |
130 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1602892147 CA415283116 |
132 | K>E | No |
ClinGen Ensembl |
|
|
rs1556837004 CA415283105 |
133 | A>G | No |
ClinGen gnomAD |
|
|
rs781818052 CA10543826 |
137 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA415283079 rs1221344440 |
137 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782642638 CA415283069 |
139 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs150966954 CA10543828 |
140 | V>I | Variant assessed as Somatic; 6.248e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150966954 CA10543829 |
140 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10543830 RCV000971989 rs145154087 COSM1466401 CA337600185 |
141 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA415283044 rs782000856 |
143 | W>C | No |
ClinGen ExAC TOPMed |
|
|
CA415283046 rs782085695 |
143 | W>L | No |
ClinGen ExAC TOPMed |
|
|
CA10543831 rs782085695 |
143 | W>S | No |
ClinGen ExAC TOPMed |
|
|
rs141073824 CA415283039 |
144 | Q>H | No |
ClinGen ESP ExAC |
|
|
rs1556826365 CA10543832 |
144 | Q>P | No |
ClinGen TOPMed |
|
|
rs781931828 CA415283032 |
145 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415283034 rs782149794 |
145 | Y>D | No |
ClinGen ExAC TOPMed |
|
|
CA415283026 rs782220551 |
146 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1556826377 CA415283030 |
146 | F>L | No |
ClinGen TOPMed |
|
|
CA337600165 rs1556826377 |
146 | F>V | No |
ClinGen TOPMed |
|
|
COSM3713803 CA10543835 rs1556826390 |
148 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs782605070 CA337600151 |
149 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415283011 rs1556836992 |
150 | I>F | No |
ClinGen gnomAD |
|
|
rs1556836991 CA415283003 |
151 | F>L | No |
ClinGen gnomAD |
|
|
CA10543838 rs61744011 |
152 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs7056365 VAR_053493 CA10544480 |
152 | S>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415282993 rs782691116 |
152 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61744011 CA337600141 |
152 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415282990 rs140239759 |
153 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782563714 CA415282981 |
154 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA337600135 rs782474077 |
154 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415282983 rs782474077 |
154 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415282972 rs1341144034 |
156 | D>E | No |
ClinGen TOPMed |
|
|
rs1556826438 CA10543841 |
156 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556826432 CA10543840 |
156 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA920449536 rs34699032 |
156 | D>S | No |
ClinGen Ensembl |
|
|
rs1556826432 COSM611548 CA337600124 |
156 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA415282968 rs1196186350 |
157 | S>Y | No |
ClinGen TOPMed |
|
|
rs782793613 CA415282952 |
159 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA415282953 rs1556836988 |
159 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415282924 rs782165757 |
164 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA415282919 rs781889039 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1556826464 CA10543846 |
166 | L>M | No |
ClinGen TOPMed |
|
|
CA10543847 rs782048694 CA337600105 |
167 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA337600100 rs1556826487 |
169 | V>E | No |
ClinGen TOPMed |
|
|
CA337600098 rs1556826487 |
169 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 170 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337600085 rs1556836975 |
173 | G>D | No |
ClinGen gnomAD |
|
|
CA415282876 rs782473230 |
173 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556836974 CA415282869 |
174 | H>R | No |
ClinGen gnomAD |
|
|
CA415282871 rs781977243 |
174 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10543854 rs35845634 CA337600079 COSM3673354 |
175 | V>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA873176380 rs1327866092 |
176 | Y>* | No |
ClinGen TOPMed |
|
|
CA415282859 rs1312404091 |
176 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs782289343 CA415282862 |
176 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA415282857 rs1556836970 |
177 | I>L | No |
ClinGen gnomAD |
|
|
CA415282849 rs781942856 |
178 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781938859 CA415282844 |
178 | F>L | No |
ClinGen Ensembl |
|
|
CA415282846 rs1556836968 |
178 | F>S | No |
ClinGen gnomAD |
|
|
rs782319514 CA337600071 |
179 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543856 rs782319514 |
179 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569466117 CA415282839 |
180 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415282828 rs373872533 |
182 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10543858 rs1556826557 |
183 | G>D | No |
ClinGen TOPMed |
|
|
rs149833704 CA415282823 |
183 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370759910 CA337600057 |
184 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1201877073 CA415282813 |
185 | S>C | No |
ClinGen TOPMed |
|
|
CA10543862 rs1556826576 |
186 | Y>C | No |
ClinGen TOPMed |
|
|
rs1556826576 CA337600051 |
186 | Y>F | No |
ClinGen TOPMed |
|
|
CA415282810 rs1556836961 |
186 | Y>H | No |
ClinGen gnomAD |
|
|
CA415282808 COSM231501 rs782684830 |
187 | D>N | lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA415282782 rs139896092 |
191 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415282777 rs781865158 |
192 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1556826596 CA10543866 |
192 | D>N | No |
ClinGen TOPMed |
|
|
rs782769182 CA415282767 |
194 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10543869 rs782152661 |
195 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415282758 rs1334086773 |
195 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs782152661 CA337600025 |
195 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415282751 rs782719899 |
196 | M>I | No |
ClinGen ExAC |
|
|
CA415282756 rs782025017 |
196 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556826619 CA337600016 |
198 | K>E | No |
ClinGen TOPMed |
|
|
rs1556826624 RCV000918321 CA10543871 |
198 | K>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs35812330 CA10543872 |
199 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs71308287 CA920449534 |
199 | T>AGL | No |
ClinGen Ensembl |
|
|
CA10543874 rs35319241 COSM1556679 |
201 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1225128867 CA415282722 |
203 | I>L | No |
ClinGen TOPMed |
|
|
CA415282713 rs1283789705 |
204 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA415282714 rs1283789705 |
204 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs34115651 CA10543875 |
205 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415282694 rs782485042 |
207 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415282698 rs782564930 |
207 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10543877 rs782208388 |
209 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556826690 CA10543881 |
210 | A>E | No |
ClinGen TOPMed |
|
|
CA337599963 rs782488694 |
210 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782488694 CA10543880 |
210 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543882 rs34624093 RCV000907589 |
211 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs782792949 CA415282676 |
212 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543883 rs1556826718 |
215 | C>S | No |
ClinGen TOPMed |
|
|
CA10543888 rs1556826743 |
217 | P>R | No |
ClinGen TOPMed |
|
|
CA10543887 rs1556826735 |
217 | P>S | No |
ClinGen TOPMed |
|
|
CA415282641 rs1556836942 |
218 | E>K | No |
ClinGen gnomAD |
|
|
CA415282642 rs1556836942 |
218 | E>Q | No |
ClinGen gnomAD |
|
|
rs1479727888 CA415282628 |
219 | E>D | No |
ClinGen TOPMed |
|
|
rs1556836938 CA415282587 |
224 | E>D | No |
ClinGen gnomAD |
|
|
rs1556836941 CA415282590 |
224 | E>G | No |
ClinGen gnomAD |
|
|
rs1556826759 CA415282577 |
226 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371018461 CA415282562 |
229 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10543892 rs148280358 |
230 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148280358 CA337599927 |
230 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782007350 CA415282541 CA415282540 |
232 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1556826812 CA10543896 |
233 | G>E | No |
ClinGen TOPMed |
|
|
CA337599923 rs1556826805 |
233 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1556826805 CA10543895 |
233 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10543899 rs374422758 |
236 | D>E | No |
ClinGen gnomAD |
|
|
rs143124123 CA415282524 |
236 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA415282528 rs1556836928 |
236 | D>N | No |
ClinGen gnomAD |
|
|
CA10543900 rs1556826835 |
237 | S>G | No |
ClinGen TOPMed |
|
|
CA415282522 rs1556836927 |
237 | S>N | No |
ClinGen gnomAD |
|
|
rs1309065782 CA415282517 |
238 | I>L | No |
ClinGen TOPMed |
|
|
rs781938389 CA415282513 |
238 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1117157 rs34645170 CA10543901 |
239 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs782306683 CA415282510 COSM3939852 |
239 | F>V | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA415282504 rs1556826858 |
240 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782385960 CA415282488 |
242 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259146455 CA415055949 |
243 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782088099 CA10543905 |
245 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150188134 CA415055835 |
247 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1223572282 CA415055803 |
248 | Q>R | No |
ClinGen TOPMed |
|
|
rs35207921 CA10543910 |
249 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35207921 CA10543909 |
249 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415055727 rs1556836906 |
250 | F>C | No |
ClinGen gnomAD |
|
|
CA10543911 rs782585932 |
250 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782484544 COSM1117158 CA10543912 |
251 | V>M | Variant assessed as Somatic; 6.252e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA415055649 rs138036337 |
252 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782315553 CA415055613 |
254 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 255 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569466023 CA415055580 |
255 | Y>D | No |
ClinGen Ensembl |
|
|
CA415055538 rs782506379 |
257 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM213370 CA10543918 rs1556826961 |
259 | R>Q | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA10543917 rs1556826957 |
259 | R>W | No |
ClinGen TOPMed |
|
|
CA10543921 CA415055430 rs1556836900 |
260 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10543923 rs781904792 |
261 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10543922 rs1602891247 |
261 | V>I | No |
ClinGen Ensembl |
|
|
CA415055382 rs782049376 |
262 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA415055316 rs1374011757 |
263 | G>D | No |
ClinGen TOPMed |
|
|
CA337174681 rs146946531 |
263 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146946531 CA10543930 |
263 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415055250 rs781978102 |
264 | S>R | No |
ClinGen ExAC |
|
|
rs782411733 CA415055207 |
265 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10543932 rs782143844 |
266 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM367545 rs141271077 CA10543933 |
266 | 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 | 266 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10543934 rs1556827008 |
267 | A>T | No |
ClinGen TOPMed |
|
|
CA337174628 rs782313775 |
268 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543937 rs782313775 |
268 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556827031 CA10543940 |
269 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA337174561 rs1556827031 |
269 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1556827041 CA519165612 |
270 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10543944 rs1556827048 COSM1466404 |
271 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA415055051 rs782395838 |
272 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA415054997 rs782252083 |
273 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA415054942 rs1556836881 |
275 | P>Q | No |
ClinGen gnomAD |
|
|
rs1235826901 CA415054921 |
276 | R>K | No |
ClinGen TOPMed |
|
|
rs140594749 CA10543946 |
278 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140594749 CA337174480 |
278 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10543948 rs35983118 |
279 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10543949 rs1556827099 |
279 | I>T | No |
ClinGen TOPMed |
|
|
CA10543947 rs35983118 |
279 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556827119 CA10543950 |
282 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10543951 rs1556827127 |
283 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1556827131 CA10543953 |
284 | V>L | No |
ClinGen TOPMed |
|
|
CA415054622 rs1556827142 |
286 | V>I | No |
ClinGen TOPMed |
|
|
CA10543955 rs1556827142 |
286 | V>L | No |
ClinGen TOPMed |
|
|
rs781868954 CA415054597 |
287 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415054593 rs781868954 |
287 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307342185 CA415054557 |
289 | H>D | No |
ClinGen TOPMed |
|
|
CA415054542 rs1556836877 |
289 | H>R | No |
ClinGen gnomAD |
|
|
rs1307342185 CA415054550 |
289 | H>Y | No |
ClinGen TOPMed |
|
|
CA415054520 rs1556836873 |
290 | M>L | No |
ClinGen gnomAD |
|
|
rs1202957846 CA415054479 |
291 | V>A | No |
ClinGen TOPMed |
|
|
CA415054502 rs1556836872 |
291 | V>L | No |
ClinGen gnomAD |
|
|
rs782162335 CA415054429 |
293 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782162335 CA415054426 |
293 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782710615 CA337174310 |
294 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782710615 CA10543960 |
294 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415054315 rs782059031 |
295 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA337174284 rs1556827162 |
296 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10543961 rs1556827162 |
296 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1556836868 CA415054265 |
297 | P>A | No |
ClinGen gnomAD |
|
|
rs782748999 CA337174264 |
297 | P>R | No |
ClinGen ExAC |
|
|
rs782133975 CA415054249 |
298 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10543964 COSM206281 rs35987457 |
298 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA337174251 rs35987457 |
298 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782133975 CA415054242 |
298 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146126949 CA415054215 |
299 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1556836862 CA415054122 |
302 | P>A | No |
ClinGen gnomAD |
|
|
rs782359544 CA10543967 |
302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556836862 CA415054125 |
302 | P>T | No |
ClinGen gnomAD |
|
|
CA415054100 rs782213540 |
303 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM755852 rs782213540 CA415054106 |
303 | L>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10543968 rs35981027 |
303 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415054102 rs782213540 |
303 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415054062 rs782455656 |
304 | L>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA415054041 rs782671052 |
305 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782671052 CA415054043 |
305 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415053980 rs1336126368 |
307 | W>* | No |
ClinGen TOPMed |
|
|
rs782751536 CA415053965 |
307 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs781796421 CA415053997 |
307 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35780974 CA10543973 |
308 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61750034 CA10543975 CA415053893 |
309 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1556827223 CA10543974 |
309 | L>S | No |
ClinGen TOPMed |
|
|
rs782716070 CA415053824 |
311 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10543976 rs1556827233 |
311 | E>Q | No |
ClinGen TOPMed |
|
|
CA10543977 rs782161754 |
311 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415053809 rs782098628 |
312 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415053812 rs782098628 |
312 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556836847 CA415053818 |
312 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556836839 CA415053683 |
315 | E>C | No |
ClinGen gnomAD |
No associated diseases with P43360
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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of autophagy | Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| 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 |
| 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 |
| MPLEQRSQHC | KPEEGLEARG | EALGLVGAQA | PATEEQEAAS | SSSTLVEVTL | GEVPAAESPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPQSPQGASS | LPTTMNYPLW | SQSYEDSSNQ | EEEGPSTFPD | LESEFQAALS | RKVAKLVHFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLKYRAREPV | TKAEMLGSVV | GNWQYFFPVI | FSKASDSLQL | VFGIELMEVD | PIGHVYIFAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CLGLSYDGLL | GDNQIMPKTG | FLIIILAIIA | KEGDCAPEEK | IWEELSVLEV | FEGREDSIFG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPKKLLTQYF | VQENYLEYRQ | VPGSDPACYE | FLWGPRALIE | TSYVKVLHHM | VKISGGPRIS |
| 310 | |||||
| YPLLHEWALR | EGEE |