| Variant ID | 17157 |
|---|---|
| Entrez Gene ID | 29079 |
| Gene | MED4 (GeneCards) |
| Location | hg19 13:48729147-48729147
hg38 13:48155011-48155011 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.48729147 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3044 |
| CADD Raw score (version 1.3) | 2.091198 (Deleterious) |
| FATHMM raw prediction score | 0.13159 (Tolerated) |
| Deleterious probability by DeFine | 0.6878 (Deleterious) |
| Entrez Gene ID | 29079 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MED4 (GeneCards) |
| Number of variants in MED4 in this database | 2 (view all the variants) |
| Full name | mediator complex subunit 4 |
| Band | 13q14.2 |
| Other IDs | Vega: OTTHUMG00000016891 OMIM: 605718 HGNC: HGNC:17903 Ensembl: ENSG00000136146 |
| Other names | ARC36, VDRIP, DRIP36, TRAP36, HSPC126 |
| Summary | This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |