MED6
Basic information
Region (hg38): 14:70581257-70600690
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MED6 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 0 | 0 |
Variants in MED6
This is a list of pathogenic ClinVar variants found in the MED6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-70584841-G-C | not specified | Uncertain significance (May 16, 2024) | ||
| 14-70584857-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
| 14-70591337-T-C | not specified | Uncertain significance (Jun 09, 2022) | ||
| 14-70591349-C-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 14-70592883-G-T | not specified | Uncertain significance (May 21, 2024) | ||
| 14-70592894-T-A | not specified | Uncertain significance (May 28, 2024) | ||
| 14-70600628-C-A | not specified | Uncertain significance (Aug 02, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MED6 | protein_coding | protein_coding | ENST00000256379 | 8 | 19411 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000660 | 0.913 | 125732 | 0 | 16 | 125748 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.955 | 98 | 128 | 0.763 | 0.00000628 | 1607 |
| Missense in Polyphen | 19 | 42.219 | 0.45004 | 524 | ||
| Synonymous | 0.933 | 33 | 40.6 | 0.814 | 0.00000181 | 441 |
| Loss of Function | 1.57 | 9 | 15.7 | 0.572 | 7.36e-7 | 190 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000119 | 0.000119 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000468 | 0.0000462 |
| European (Non-Finnish) | 0.0000970 | 0.0000967 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- 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 preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:16595664}.;
- Pathway
- Developmental Biology;Gene expression (Transcription);Generic Transcription Pathway;Hedgehog;RNA Polymerase II Transcription;Transcriptional regulation of white adipocyte differentiation
(Consensus)
Recessive Scores
- pRec
- 0.125
Intolerance Scores
- loftool
- 0.441
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.42
Haploinsufficiency Scores
- pHI
- 0.272
- hipred
- Y
- hipred_score
- 0.675
- ghis
- 0.691
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.462
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Med6
- Phenotype
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;positive regulation of transcription by RNA polymerase II;RNA polymerase II preinitiation complex assembly
- Cellular component
- nucleus;nucleoplasm;membrane;mediator complex;core mediator complex
- Molecular function
- RNA polymerase II transcription coactivator activity involved in preinitiation complex assembly;transcription coactivator activity;protein binding;transcription factor binding