O15479
PR
Gene name |
MAGEB2 |
Protein name |
Melanoma-associated antigen B2 |
Names |
Cancer/testis antigen 3.2, CT3.2, DSS-AHC critical interval MAGE superfamily 6, DAM6, MAGE XP-2 antigen, MAGE-B2 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4113 |
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 O15479
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O15479-F1 | Predicted | AlphaFoldDB |
294 variants for O15479
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs750718375 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1377385127 | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763345977 CA10375656 |
2 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765958802 CA10375657 |
3 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746022879 CA10375658 |
3 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746022879 CA327961615 |
3 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412535609 rs1041746690 |
5 | Q>* | No |
ClinGen TOPMed |
|
|
CA327961620 rs1041746690 |
5 | Q>E | No |
ClinGen TOPMed |
|
|
CA412535611 rs759031616 |
5 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10375659 rs759031616 |
5 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020866755 CA327961643 CA412535633 |
6 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10375660 rs767023113 |
8 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA327961651 rs966576698 |
10 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs756066149 CA10375662 |
10 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777645955 CA10375663 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373920316 CA10375665 |
12 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373920316 CA412535704 |
12 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376868079 CA10375666 |
12 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375664 rs373920316 |
12 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747224013 CA10375667 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10375668 rs768671683 |
15 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200649828 COSM1119823 COSM1119824 CA10375669 |
16 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs151181148 CA10375670 |
16 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375671 rs151181148 |
16 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1179707065 CA412535768 |
17 | K>E | No |
ClinGen gnomAD |
|
|
rs773794633 CA10375672 |
19 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199746320 CA10375673 |
19 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1404272894 CA412535810 |
20 | D>G | No |
ClinGen gnomAD |
|
|
CA412535801 rs1175960553 |
20 | D>N | No |
ClinGen gnomAD |
|
|
rs1404272894 CA412535812 |
20 | D>V | No |
ClinGen gnomAD |
|
|
rs1471126428 CA412535826 |
21 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10375675 rs369826731 |
23 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1467427 rs1396356517 COSM1467428 CA412535850 |
23 | R>Q | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM71539 CA10375674 rs369826731 |
23 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3406271 COSM3406270 rs759205287 CA10375676 |
24 | G>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA412535866 rs1407319820 |
24 | G>V | No |
ClinGen TOPMed |
|
|
CA10375677 rs139121250 |
26 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412535906 rs1350549751 |
30 | V>I | No |
ClinGen gnomAD |
|
|
CA327961728 rs1002059980 |
38 | A>P | No |
ClinGen TOPMed |
|
|
rs149932758 CA10375681 |
39 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757043954 CA10375682 |
40 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74852235 CA10375684 |
41 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs74852235 CA412536023 |
41 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375683 rs74852235 |
41 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755263954 CA10375685 |
42 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10375686 rs766889118 |
43 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10375687 rs748255078 |
43 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412536601 rs1266652153 |
46 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412536610 rs1481557662 |
47 | G>E | No |
ClinGen gnomAD |
|
|
CA412536607 rs1427397130 |
47 | G>R | No |
ClinGen gnomAD |
|
|
rs989719845 CA412536616 |
48 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs989719845 CA327961778 |
48 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10375689 rs756246520 |
55 | A>P | No |
ClinGen ExAC |
|
|
rs778488431 CA10375690 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749778121 CA10375691 |
58 | I>F | No |
ClinGen ExAC |
|
|
CA327961831 rs967467397 |
59 | P>L | No |
ClinGen TOPMed |
|
|
CA10375692 rs771249184 |
59 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346963478 CA412536683 |
60 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2529541 CA10375693 VAR_027675 |
61 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1294471710 CA412536699 |
62 | P>S | No |
ClinGen gnomAD |
|
|
rs746176783 CA10375694 |
63 | Q>* | No |
ClinGen ExAC |
|
|
CA10375695 rs771758637 |
64 | R>G | No |
ClinGen ExAC |
|
|
rs1305542287 CA412536718 |
65 | A>S | No |
ClinGen gnomAD |
|
|
CA412536721 rs1229425401 |
65 | A>V | No |
ClinGen gnomAD |
|
|
rs1275186370 CA412536727 |
66 | P>L | No |
ClinGen gnomAD |
|
|
rs944932388 CA327961835 |
67 | T>A | No |
ClinGen gnomAD |
|
|
CA412536732 rs1221787937 |
67 | T>I | No |
ClinGen gnomAD |
|
|
CA10375696 rs775111636 |
69 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA412536739 rs1301251288 |
69 | A>T | No |
ClinGen TOPMed |
|
|
CA412536742 rs775111636 |
69 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA10375698 rs183272477 |
70 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375699 rs776599379 |
71 | A>D | No |
ClinGen ExAC TOPMed |
|
|
rs776599379 CA412536753 |
71 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1260740238 CA412536754 |
72 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761837486 CA10375701 |
72 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10375704 rs750240402 |
74 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412536773 rs1479829058 |
75 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1391274436 CA412536770 |
75 | G>S | No |
ClinGen gnomAD |
|
|
CA10375707 rs752960894 |
76 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412536776 rs752960894 |
76 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412536783 rs1366874728 |
77 | S>A | No |
ClinGen gnomAD |
|
|
rs756299317 CA10375708 |
77 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1287922391 CA412536811 |
81 | S>F | No |
ClinGen gnomAD |
|
|
rs754734083 CA10375709 |
82 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412536833 rs893248146 |
85 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs893248146 CA327961874 |
85 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1298100434 CA412536839 |
86 | K>Q | No |
ClinGen gnomAD |
|
|
rs146783301 CA10375710 |
87 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412536859 rs1601955695 |
88 | H>Q | No |
ClinGen Ensembl |
|
|
rs148939834 CA10375711 |
93 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412536898 rs1293935200 |
94 | A>T | No |
ClinGen gnomAD |
|
|
CA10375712 rs368665231 |
95 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM325750 COSM325749 rs1205950650 CA412536929 |
98 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1222405103 CA412536937 |
99 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 101 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327961897 rs386824543 |
103 | T>A | No |
ClinGen Ensembl |
|
|
RCV000967600 CA10375714 rs7878409 |
103 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA412536980 rs1190867160 |
104 | K>E | No |
ClinGen gnomAD |
|
|
rs1444458023 CA412537009 |
106 | P>S | No |
ClinGen gnomAD |
|
|
CA10375715 rs779723991 |
107 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA412537029 rs757368435 |
107 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs368561784 CA327961908 |
108 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 111 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384217327 CA412537105 |
113 | R>T | No |
ClinGen gnomAD |
|
|
CA10375719 rs761165706 |
114 | K>N | No |
ClinGen ExAC |
|
|
rs745960048 CA10375720 |
116 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10375721 rs773013541 |
117 | S>P | No |
ClinGen ExAC |
|
|
CA327961969 rs1039947944 |
118 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412537171 rs1379820112 |
119 | V>A | No |
ClinGen gnomAD |
|
|
rs370817698 CA327961972 |
119 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs931459540 CA412537203 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10375723 rs189110298 |
124 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1601955765 CA412537238 |
125 | K>E | No |
ClinGen Ensembl |
|
|
COSM367530 rs760996564 COSM367529 CA10375725 |
125 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10375724 rs753012331 |
125 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10375726 rs374368116 |
127 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150250737 CA10375729 |
128 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167390309 CA412537280 |
128 | I>R | No |
ClinGen TOPMed |
|
|
rs779542719 CA10375730 |
129 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA412537293 rs779542719 |
129 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA412537321 rs1405129828 |
131 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1405129828 CA412537323 |
131 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM287490 rs758812052 COSM287491 CA10375732 |
132 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM756348 CA327962015 rs920443442 COSM756347 |
133 | T>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10375733 rs780419769 |
134 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747338040 CA10375734 |
137 | M>T | No |
ClinGen ExAC |
|
|
CA10375735 rs768306363 |
138 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA327962031 rs769451362 |
140 | I>T | No |
ClinGen Ensembl |
|
|
CA10375736 rs143298503 |
140 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs951852677 CA327962034 |
143 | K>R | No |
ClinGen gnomAD |
|
|
COSM1557994 CA412537468 CA327962040 rs368299444 COSM1557993 |
144 | R>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP TOPMed gnomAD NCI-TCGA |
|
rs1276052666 CA412537481 |
146 | R>K | No |
ClinGen TOPMed |
|
|
CA412537503 rs1259990692 |
149 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 154 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412537541 rs1371259981 |
154 | K>R | No |
ClinGen gnomAD |
|
|
CA10375738 rs769180547 |
157 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA412537561 rs1289152455 |
157 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs907526778 CA327962074 |
159 | G>A | No |
ClinGen Ensembl |
|
|
CA10375739 rs773239129 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1281126265 CA412537582 |
160 | L>P | No |
ClinGen gnomAD |
|
|
CA412537587 rs1443401253 |
161 | S>G | No |
ClinGen gnomAD |
|
|
rs1245832147 CA412537623 |
164 | F>V | No |
ClinGen TOPMed |
|
|
CA412537641 rs1204421619 |
165 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1204421619 CA412537643 |
165 | G>V | No |
ClinGen gnomAD |
|
|
CA412537648 rs1231738139 |
166 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10375740 rs147546492 |
167 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10375742 rs774317963 |
168 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA412537672 rs1428102273 |
168 | L>V | No |
ClinGen gnomAD |
|
|
rs759337831 CA10375743 |
169 | N>S | No |
ClinGen ExAC |
|
|
CA412537692 rs1174010537 |
170 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1033559594 CA327962102 |
172 | N>S | No |
ClinGen TOPMed |
|
|
rs1351020140 CA412537720 |
172 | N>Y | No |
ClinGen TOPMed |
|
|
rs1425580137 CA412537734 |
173 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764422051 CA10375744 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425580137 CA412537736 |
173 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10375746 rs193132352 |
174 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10375747 rs765211660 |
174 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758936510 CA10375750 |
175 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758936510 CA10375749 |
175 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010709354 CA327962136 |
177 | T>I | No |
ClinGen TOPMed |
|
|
rs1276886064 CA412537799 |
178 | Y>* | No |
ClinGen gnomAD |
|
|
rs1434550281 CA641364040 |
178 | Y>* | No |
ClinGen gnomAD |
|
|
CA412537803 rs1346140537 |
179 | T>A | No |
ClinGen gnomAD |
|
|
rs751938258 CA10375751 |
179 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140291899 CA10375752 |
181 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412537831 rs1185854596 |
181 | I>T | No |
ClinGen TOPMed |
|
|
rs1271432240 CA412537827 |
181 | I>V | No |
ClinGen gnomAD |
|
|
CA10375754 rs199666309 |
182 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482087471 CA412537861 |
183 | K>N | No |
ClinGen TOPMed |
|
|
CA412537865 rs1267520277 |
184 | V>I | No |
ClinGen gnomAD |
|
|
rs1489667572 CA412537910 |
188 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA327962140 rs1054991223 |
190 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412537955 rs755696118 |
191 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs755696118 CA10375755 |
191 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA412537963 rs1246993608 |
191 | S>Y | No |
ClinGen gnomAD |
|
|
CA10375758 rs770996632 |
196 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs748764119 CA10375757 |
196 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs184471774 CA10375759 |
197 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM612807 COSM612808 rs45513291 CA10375760 |
199 | P>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA412538062 rs1325695629 |
200 | R>G | No |
ClinGen gnomAD |
|
|
CA412538065 rs1263957644 |
200 | R>K | No |
ClinGen TOPMed |
|
|
CA327962158 rs1010707362 |
202 | K>E | No |
ClinGen Ensembl |
|
|
CA412538093 rs1329603663 |
202 | K>R | No |
ClinGen TOPMed |
|
|
rs1430396016 CA412538104 |
203 | L>F | No |
ClinGen gnomAD |
|
|
CA412538132 rs1367848012 |
205 | M>I | No |
ClinGen gnomAD |
|
|
CA327962159 rs966557026 |
205 | M>L | No |
ClinGen TOPMed |
|
|
rs776963214 CA10375762 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10375764 rs765460965 |
209 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA412538169 rs1181737408 |
210 | V>M | No |
ClinGen gnomAD |
|
|
CA327962176 rs977489546 |
211 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA412538186 rs977489546 |
211 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA327962181 rs1019744871 |
212 | F>I | No |
ClinGen TOPMed |
|
|
CA327962188 rs866138945 |
213 | L>F | No |
ClinGen Ensembl |
|
|
CA10375766 rs149245405 |
216 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375767 rs149245405 |
216 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10375769 rs752059348 |
218 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs367729095 CA10375768 |
218 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327962195 rs752059348 |
218 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10375771 rs755372967 |
219 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1456405659 CA412538262 |
220 | E>A | No |
ClinGen gnomAD |
|
|
CA412538293 rs767747644 |
224 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455703578 CA412538295 |
224 | W>* | No |
ClinGen gnomAD |
|
|
CA10375772 rs767747644 |
224 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774207887 CA327962213 |
228 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412538334 rs1391671203 |
229 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA327962214 rs1034932534 |
230 | L>S | No |
ClinGen Ensembl |
|
|
CA412538344 rs1318845439 |
231 | G>E | No |
ClinGen gnomAD |
|
|
CA412538346 rs1318845439 |
231 | G>V | No |
ClinGen gnomAD |
|
|
CA10375776 rs777415745 |
233 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412538371 rs1314883012 |
235 | G>E | No |
ClinGen gnomAD |
|
|
CA10375777 rs748819651 |
239 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10375778 rs756812571 |
242 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs779059004 CA10375779 |
244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10375780 rs745779246 |
245 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1159459599 CA412538435 |
245 | W>G | No |
ClinGen gnomAD |
|
|
rs771999721 CA10375781 |
246 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10375782 rs376780034 |
247 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412538453 rs1425519413 |
247 | L>P | No |
ClinGen gnomAD |
|
|
rs200726761 CA327962251 |
250 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA412538478 rs1207130118 |
251 | D>V | No |
ClinGen TOPMed |
|
|
CA10375784 rs769925797 |
252 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs931571153 CA327962252 |
254 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1226401203 CA412538495 |
254 | Q>P | No |
ClinGen TOPMed |
|
|
CA412538510 rs1414472999 |
256 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412538517 rs1601956143 |
257 | Y>H | No |
ClinGen Ensembl |
|
|
CA412538543 rs1398275721 |
260 | Y>* | No |
ClinGen gnomAD |
|
|
rs763090072 CA10375787 |
260 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs951932579 CA327962263 |
261 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA327962269 rs907660975 |
262 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 263 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767384723 COSM756338 CA412538564 COSM756337 |
264 | P>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767384723 CA327962270 |
264 | P>T | No |
ClinGen gnomAD |
|
|
CA412538585 rs1289765940 |
267 | D>N | No |
ClinGen gnomAD |
|
|
CA10375788 rs766418758 |
268 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253990789 CA412538602 |
269 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA327962271 rs940203922 |
269 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10375789 rs774884656 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412538604 rs774884656 |
270 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759980804 CA412538606 |
270 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759980804 CA10375790 |
270 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249814063 CA412538618 |
272 | Q>P | No |
ClinGen gnomAD |
|
|
rs148432603 CA10375793 |
274 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10375795 rs772656322 |
276 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772656322 CA412538648 |
276 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10375796 rs142602767 |
277 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412538654 rs1376264396 |
278 | R>G | No |
ClinGen gnomAD |
|
|
CA327962289 rs146480900 |
280 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756877832 COSM3694541 COSM3694542 CA10375797 |
282 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs778590723 CA10375798 |
284 | S>G | No |
ClinGen ExAC |
|
|
rs937673707 CA327962296 |
284 | S>T | No |
ClinGen TOPMed |
|
|
rs1240973919 CA412538699 |
285 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779986988 CA10375801 |
286 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA10375800 rs760208597 |
286 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10375799 rs760208597 |
286 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10375802 rs766710849 |
288 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10375804 rs374398423 |
290 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412538731 rs1350615502 |
290 | E>K | No |
ClinGen gnomAD |
|
|
CA10375805 rs377141601 |
291 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412538758 rs1313737179 |
294 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412538770 rs1250634881 |
295 | V>A | No |
ClinGen gnomAD |
|
|
CA10375806 rs771089577 |
298 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA412538789 rs374280154 |
298 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10375807 rs374280154 |
298 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10375809 rs772469237 |
300 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA412538798 rs1490371187 |
300 | P>S | No |
ClinGen gnomAD |
|
|
rs1194698180 CA412538805 |
301 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10375811 rs776050887 |
304 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1055229175 CA327962374 |
305 | T>A | No |
ClinGen TOPMed |
|
|
rs764521778 CA412538847 |
307 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327962380 rs1002960917 |
308 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs754207788 CA10375814 |
309 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 309 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369559506 CA10375815 |
310 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412538884 rs1171091787 |
313 | D>H | No |
ClinGen gnomAD |
|
|
CA412538891 rs1414428100 |
314 | E>K | No |
ClinGen TOPMed |
|
|
CA412538913 rs1170554037 |
316 | K>N | No |
ClinGen TOPMed |
|
|
CA10375817 rs5972090 VAR_027676 |
318 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 319 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O15479
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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
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 |
| 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 |
| 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 |
| MPRGQKSKLR | AREKRRKARD | ETRGLNVPQV | TEAEEEEAPC | CSSSVSGGAA | SSSPAAGIPQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPQRAPTTAA | AAAAGVSSTK | SKKGAKSHQG | EKNASSSQAS | TSTKSPSEDP | LTRKSGSLVQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLLYKYKIKK | SVTKGEMLKI | VGKRFREHFP | EILKKASEGL | SVVFGLELNK | VNPNGHTYTF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDKVDLTDEE | SLLSSWDFPR | RKLLMPLLGV | IFLNGNSATE | EEIWEFLNML | GVYDGEEHSV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FGEPWKLITK | DLVQEKYLEY | KQVPSSDPPR | FQFLWGPRAY | AETSKMKVLE | FLAKVNGTTP |
| 310 | |||||
| CAFPTHYEEA | LKDEEKAGV |