| Variant ID | 1062 |
|---|---|
| Entrez Gene ID | 4114 |
| Gene | MAGEB3 (GeneCards) |
| Location | hg19 X:30254411-30254411
hg38 X:30236294-30236294 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.30254411 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 124 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.444198 (Deleterious) |
| FATHMM raw prediction score | 0.00545 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.373 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.765 (Tolerated) |
| PROVEAN score | -1.27 (Tolerated) |
| MetaSVM score | -0.953 (Tolerated) |
| MetaLR score | 0.009 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| Genomic Evolutionary Rate Profiling (GERP) score | -5.92 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.28 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 0.409 |
| Deleterious probability by iFish2 | 0.08 (Neutral) |
| Deleterious probability by DeFine | 0.7542 (Deleterious) |
| Entrez Gene ID | 4114 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAGEB3 (GeneCards) |
| Number of variants in MAGEB3 in this database | 1 (view all the variants) |
| Full name | MAGE family member B3 |
| Band | Xp21.2 |
| Other IDs | Vega: OTTHUMG00000021320 OMIM: 300152 HGNC: HGNC:6810 Ensembl: ENSG00000198798 |
| Other names | CT3.5 |
| Summary | This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |