MIER1

MIER1 transcriptional regulator, the group of Myb/SANT domain containing

Basic information

Region (hg38): 1:66924894-66988619

Links

ENSG00000198160 ∙ NCBI:57708 ∙ OMIM:616848 ∙ HGNC:29657 ∙ Uniprot:Q8N108 ∙ 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 MIER1 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIER1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in MIER1

This is a list of pathogenic ClinVar variants found in the MIER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-66940046-A-C		not specified	Uncertain significance (Mar 31, 2022)
1-66946175-T-A		not specified	Uncertain significance (Nov 08, 2021)
1-66946188-T-G		not specified	Uncertain significance (Nov 08, 2022)
1-66946285-A-T		not specified	Uncertain significance (Dec 04, 2023)
1-66958089-A-T		not specified	Uncertain significance (Feb 15, 2023)
1-66958193-C-A		not specified	Uncertain significance (Aug 08, 2023)
1-66958862-A-G		not specified	Uncertain significance (Jul 14, 2021)
1-66958910-T-A		not specified	Uncertain significance (Mar 13, 2023)
1-66958953-C-T		not specified	Uncertain significance (Sep 13, 2023)
1-66958963-G-A		not specified	Uncertain significance (Feb 15, 2023)
1-66963158-A-G		not specified	Uncertain significance (Jan 03, 2024)
1-66970843-G-C		not specified	Uncertain significance (Mar 07, 2024)
1-66981795-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-66984580-T-C			Likely benign (Feb 01, 2024)
1-66984667-C-T		not specified	Uncertain significance (Sep 21, 2023)
1-66984689-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-66984712-C-G		not specified	Uncertain significance (Jan 30, 2024)
1-66984730-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-66984733-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIER1	protein_coding	protein_coding	ENST00000401041	14	63725

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.289	0.711	124781	0	14	124795	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.54	218	292	0.746	0.0000141	3759
Missense in Polyphen		48	89.381	0.53703		1231
Synonymous	0.988	84	96.3	0.872	0.00000445	978
Loss of Function	4.17	8	34.4	0.232	0.00000208	403

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000648	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000467	0.0000464
European (Non-Finnish)	0.0000624	0.0000618
Middle Eastern	0.00	0.00
South Asian	0.000141	0.000131
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing. {ECO:0000269|PubMed:12482978}.

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.739
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.112
• hipred: Y
• hipred_score: 0.745
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.835

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mier1
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;histone deacetylation;positive regulation of chromatin silencing;positive regulation of I-kappaB kinase/NF-kappaB signaling
• Cellular component: nucleus;nucleoplasm;cytoplasm;transcriptional repressor complex;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;protein binding;histone deacetylase binding