MIER3

MIER family member 3, the group of Myb/SANT domain containing

Basic information

Region (hg38): 5:56919601-56971675

Links

ENSG00000155545 ∙ NCBI:166968 ∙ OMIM:620100 ∙ HGNC:26678 ∙ Uniprot:Q7Z3K6 ∙ 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 MIER3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIER3 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in MIER3

This is a list of pathogenic ClinVar variants found in the MIER3 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-56923165-T-C		not specified	Uncertain significance (Jul 30, 2023)
5-56923217-C-T		not specified	Uncertain significance (Apr 24, 2024)
5-56923260-A-T		not specified	Uncertain significance (May 14, 2024)
5-56923371-C-T		not specified	Uncertain significance (Aug 10, 2021)
5-56923381-G-C		not specified	Uncertain significance (Jun 29, 2022)
5-56923428-A-C		not specified	Uncertain significance (Jun 01, 2023)
5-56923498-C-T		not specified	Uncertain significance (Dec 13, 2023)
5-56923550-T-A		not specified	Uncertain significance (Nov 08, 2022)
5-56923556-C-T		not specified	Likely benign (Jul 12, 2023)
5-56923828-T-C		not specified	Uncertain significance (Jun 02, 2023)
5-56933392-T-C		not specified	Uncertain significance (Feb 15, 2023)
5-56935677-C-T		not specified	Uncertain significance (Apr 20, 2023)
5-56935712-T-C		not specified	Uncertain significance (May 30, 2024)
5-56935730-T-C		not specified	Uncertain significance (Sep 07, 2022)
5-56937608-T-G		not specified	Uncertain significance (May 26, 2024)
5-56938950-G-C		not specified	Uncertain significance (Oct 31, 2023)
5-56946942-A-G		not specified	Uncertain significance (Jan 03, 2024)
5-56950630-G-A		not specified	Uncertain significance (Nov 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIER3	protein_coding	protein_coding	ENST00000381213	13	52074

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00144	125727	0	6	125733	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.07	193	293	0.659	0.0000145	3661
Missense in Polyphen		52	96.504	0.53884		1260
Synonymous	0.271	101	105	0.966	0.00000579	977
Loss of Function	4.54	2	27.9	0.0718	0.00000146	360

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. {ECO:0000250}.

Intolerance Scores

• loftool: 0.318
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.509
• hipred: Y
• hipred_score: 0.754
• ghis: 0.687

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.236

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mier3

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;histone deacetylation
• Cellular component: nucleus;nucleoplasm;protein-containing complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II repressing transcription factor binding;DNA binding;transcription corepressor activity;histone deacetylase activity;histone deacetylase binding