MED18

mediator complex subunit 18, the group of Mediator complex

Basic information

Region (hg38): 1:28329002-28335965

Links

ENSG00000130772 ∙ NCBI:54797 ∙ OMIM:612384 ∙ HGNC:25944 ∙ Uniprot:Q9BUE0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MED18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MED18 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in MED18

This is a list of pathogenic ClinVar variants found in the MED18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-28330706-C-T		not specified	Uncertain significance (Jan 08, 2024)
1-28330714-A-G		not specified	Uncertain significance (Jun 23, 2023)
1-28330716-G-C		not specified	Uncertain significance (Sep 06, 2022)
1-28330730-T-C		not specified	Uncertain significance (Jun 10, 2024)
1-28334462-G-A		not specified	Uncertain significance (Aug 13, 2021)
1-28334481-G-A		not specified	Uncertain significance (Dec 09, 2023)
1-28334525-A-G		not specified	Uncertain significance (Jun 21, 2023)
1-28334563-C-T			Likely benign (Jun 22, 2018)
1-28334600-G-A		not specified	Uncertain significance (Dec 27, 2023)
1-28334647-G-A		not specified	Uncertain significance (Jan 27, 2022)
1-28334659-G-A		not specified	Uncertain significance (Apr 07, 2023)
1-28334666-T-C		not specified	Uncertain significance (Apr 18, 2023)
1-28334689-G-A		not specified	Uncertain significance (Aug 02, 2022)
1-28334752-C-T		not specified	Uncertain significance (Jan 19, 2022)
1-28334776-G-C		not specified	Uncertain significance (Feb 14, 2023)
1-28334848-G-A		not specified	Uncertain significance (Aug 08, 2022)
1-28334872-G-A		not specified	Uncertain significance (Jun 17, 2022)
1-28334936-A-C		not specified	Uncertain significance (Feb 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MED18	protein_coding	protein_coding	ENST00000373842	2	6964

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000159	0.454	125718	0	29	125747	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	92	125	0.736	0.00000737	1395
Missense in Polyphen		28	40.57	0.69017		400
Synonymous	-0.530	47	42.6	1.10	0.00000228	398
Loss of Function	0.261	6	6.73	0.891	4.58e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000221	0.000221
Ashkenazi Jewish	0.000916	0.000893
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000706	0.0000703
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.000503	0.000489

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: Developmental Biology;Transcriptional regulation of white adipocyte differentiation (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.511
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.0743
• hipred: Y
• hipred_score: 0.698
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Med18
• Phenotype: immune system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

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