MED9

mediator complex subunit 9, the group of Mediator complex

Basic information

Region (hg38): 17:17476994-17493221

Links

ENSG00000141026NCBI:55090OMIM:609878HGNC:25487Uniprot:Q9NWA0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MED9 gene.

  • not_specified (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MED9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018019.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
16
clinvar
2
clinvar
18
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 16 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MED9protein_codingprotein_codingENST00000268711 216241
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4080.558120870021208720.00000827
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7946585.70.7590.00000458952
Missense in Polyphen2531.3130.7984369
Synonymous0.04883838.40.9900.00000211289
Loss of Function1.6915.120.1952.21e-753

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00005450.0000482
European (Non-Finnish)0.000009760.00000931
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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
Vitamin D Receptor Pathway;Developmental Biology;Transcriptional regulation of white adipocyte differentiation (Consensus)

Recessive Scores

pRec
0.118

Intolerance Scores

loftool
0.249
rvis_EVS
0.19
rvis_percentile_EVS
66.57

Haploinsufficiency Scores

pHI
0.217
hipred
Y
hipred_score
0.775
ghis
0.485

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.638

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Med9
Phenotype

Gene ontology

Biological process
regulation of transcription by RNA polymerase II
Cellular component
mediator complex
Molecular function
transcription coregulator activity;protein binding