| Variant ID | 787 |
|---|---|
| Entrez Gene ID | 51338 |
| Gene | MS4A4A (GeneCards) |
| Location | hg19 11:60059855-60059855
hg38 11:60292382-60292382 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.60059855 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 48 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5607 |
| CADD Raw score (version 1.3) | 5.541178 (Deleterious) |
| FATHMM raw prediction score | 0.68549 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 3.57 (Deleterious) |
| PROVEAN score | -7.33 (Deleterious) |
| MetaSVM score | -0.918 (Tolerated) |
| MetaLR score | 0.104 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.356 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.992 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.422 |
| Deleterious probability by iFish2 | 0.0498 (Neutral) |
| Deleterious probability by DeFine | 0.7668 (Deleterious) |
| Entrez Gene ID | 51338 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MS4A4A (GeneCards) |
| Number of variants in MS4A4A in this database | 2 (view all the variants) |
| Full name | membrane spanning 4-domains A4A |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000154949 OMIM: 606547 HGNC: HGNC:13371 Ensembl: ENSG00000110079 |
| Other names | MS4A4, MS4A7, 4SPAN1, CD20L1, CD20-L1, HDCME31P |
| Summary | This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 27788131.01 (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; |