Overview

Variant ID 12940
Entrez Gene ID 9442
Gene MED27 (GeneCards)
Location hg19 9:134866307-134866307
hg38 9:131990920-131990920
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000009.11:g.134866307 T>C (Genome Assembly: GRCh37)

Other information

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 141213431

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5157
CADD Raw score (version 1.3) -0.463295 (Deleterious)
FATHMM raw prediction score 0.09127 (Tolerated)
Deleterious probability by DeFine 0.7784 (Deleterious)
Entrez Gene ID 9442 (NCBI Gene)
Official Gene Symbol MED27 (GeneCards)
Number of variants in MED27 in this database 5 (view all the variants)
Full name mediator complex subunit 27
Band 9q34.13
Other IDs Vega: OTTHUMG00000020833
OMIM: 605044
HGNC: HGNC:2377
Ensembl: ENSG00000160563
Other names MED3, CRSP8, CRAP34, CRSP34, TRAP37
Summary The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;