MED12 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MED12 (HGNC:11957) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- mediator complex subunit 12
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TNRC11, FGS1
- Alias symbols
- CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS, ARC240, Kto
- %HI
- 6.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.07(Read more about gnomAD LOEUF score)
- Cytoband
- Xq13.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:70338446-70362300 NCBI Ensembl UCSC GRCh38/hg38: chrX:71118596-71142450 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005120.3 ENST00000374080.8 (Read more about MANE Select)
- Function
- Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcript... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
-
PUBMED:
24039113
Lesca et al. 2013 identified a c.5898dupC mutation causing p.Ser1967GlnfsX84 segregating in one family with non-syndromic intellectual disability (ID) in 9 affected males. There were 10 carrier females, seven with variable cognitive impairment including 1 with significant ID. Expression studies performed produced two abnormal mRNAs (one with the frameshift and the other one with an in-frame 75-bp deletion due to the activation of two cryptic splice sites in exon 41), and therefore escaped non-sense-mediated RNA decay. It is unclear if this mutation would be consistent with haploinsufficiency.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.