MED7
Basic information
Region (hg38): 5:157137424-157159019
Previous symbols: [ "CRSP9" ]
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 MED7 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 | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 0 | 0 |
Variants in MED7
This is a list of pathogenic ClinVar variants found in the MED7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-157138737-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
| 5-157138833-T-C | not specified | Uncertain significance (Feb 13, 2023) | ||
| 5-157138867-T-C | not specified | Uncertain significance (Apr 04, 2024) | ||
| 5-157138988-T-A | not specified | Uncertain significance (Jul 27, 2021) | ||
| 5-157138989-T-C | not specified | Uncertain significance (Jan 02, 2024) | ||
| 5-157138996-G-A | not specified | Uncertain significance (Mar 01, 2024) | ||
| 5-157139002-G-A | not specified | Uncertain significance (Jun 22, 2023) | ||
| 5-157139019-A-G | not specified | Uncertain significance (Oct 14, 2023) | ||
| 5-157139055-T-A | not specified | Uncertain significance (Dec 17, 2023) | ||
| 5-157139077-C-G | not specified | Uncertain significance (Aug 01, 2022) | ||
| 5-157139217-A-T | not specified | Uncertain significance (Oct 11, 2024) | ||
| 5-157139331-G-A | not specified | Uncertain significance (May 23, 2024) | ||
| 5-157139382-T-C | not specified | Uncertain significance (Nov 10, 2022) | ||
| 5-157139389-T-C | not specified | Uncertain significance (Jul 07, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MED7 | protein_coding | protein_coding | ENST00000286317 | 1 | 21608 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0169 | 0.897 | 125736 | 0 | 4 | 125740 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.17 | 93 | 131 | 0.712 | 0.00000676 | 1571 |
| Missense in Polyphen | 20 | 39.525 | 0.50601 | 492 | ||
| Synonymous | 1.18 | 32 | 41.7 | 0.768 | 0.00000204 | 415 |
| Loss of Function | 1.45 | 4 | 8.57 | 0.467 | 6.44e-7 | 90 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000654 | 0.0000653 |
| 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.;
- Pathway
- Developmental Biology;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Transcriptional regulation of white adipocyte differentiation
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.188
- rvis_EVS
- 0.53
- rvis_percentile_EVS
- 80.58
Haploinsufficiency Scores
- pHI
- 0.342
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.520
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
- Med7
- Phenotype
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;protein ubiquitination;stem cell population maintenance;positive regulation of nucleic acid-templated transcription
- Cellular component
- ubiquitin ligase complex;nucleoplasm;transcription factor complex;mediator complex;nuclear body
- Molecular function
- transcription coactivator activity;protein binding;ubiquitin protein ligase activity