MIDEAS

mitotic deacetylase associated SANT domain protein, the group of MiDAC complex subunits|Myb/SANT domain containing

Basic information

Region (hg38): 14:73715122-73790285

Previous symbols: [ "C14orf117", "C14orf43", "ELMSAN1" ]

Links

ENSG00000156030 ∙ NCBI:91748 ∙ ∙ HGNC:19853 ∙ Uniprot:Q6PJG2 ∙ 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 MIDEAS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIDEAS 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			64	4		68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	64	4	0

Variants in MIDEAS

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

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

Position	Type	Phenotype	Significance	ClinVar
14-73719386-A-G		not specified	Uncertain significance (Jul 27, 2021)
14-73719420-C-T		not specified	Uncertain significance (Feb 22, 2023)
14-73721298-G-A		not specified	Uncertain significance (Nov 15, 2021)
14-73721304-T-C		not specified	Uncertain significance (Feb 10, 2022)
14-73721325-G-A		not specified	Uncertain significance (Jun 07, 2024)
14-73721337-G-A		not specified	Uncertain significance (Nov 18, 2023)
14-73721343-C-T		not specified	Uncertain significance (Dec 13, 2021)
14-73721352-C-T		not specified	Uncertain significance (Oct 27, 2023)
14-73721380-T-C		not specified	Uncertain significance (Oct 02, 2023)
14-73721403-T-A		not specified	Uncertain significance (Aug 21, 2023)
14-73721461-T-A		not specified	Uncertain significance (Oct 26, 2021)
14-73721461-T-C		not specified	Likely benign (Jan 04, 2024)
14-73722744-G-A		not specified	Uncertain significance (Oct 06, 2021)
14-73725319-T-G		not specified	Uncertain significance (May 30, 2023)
14-73725351-T-C		not specified	Uncertain significance (Sep 22, 2023)
14-73726056-G-A		not specified	Uncertain significance (Aug 30, 2021)
14-73726071-C-T		not specified	Uncertain significance (Mar 23, 2022)
14-73726098-T-C		not specified	Uncertain significance (Dec 28, 2023)
14-73726692-G-A		not specified	Uncertain significance (Jun 28, 2022)
14-73726837-C-G		not specified	Uncertain significance (Dec 20, 2023)
14-73726872-G-A		not specified	Uncertain significance (Oct 25, 2023)
14-73726881-C-T		not specified	Uncertain significance (Oct 26, 2022)
14-73726900-A-T		not specified	Uncertain significance (Mar 11, 2024)
14-73726919-C-T		not specified	Uncertain significance (Mar 25, 2024)
14-73727474-G-C		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIDEAS	protein_coding	protein_coding	ENST00000286523	11	75164

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000145	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.79	499	625	0.799	0.0000386	6683
Missense in Polyphen		131	198.62	0.65955		2027
Synonymous	0.663	247	261	0.948	0.0000156	2215
Loss of Function	6.03	2	46.3	0.0432	0.00000281	460

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000601	0.0000601
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.0000544
Finnish	0.0000539	0.0000462
European (Non-Finnish)	0.0000912	0.0000791
Middle Eastern	0.000110	0.0000544
South Asian	0.0000863	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0993

Intolerance Scores

• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.26

Haploinsufficiency Scores

• pHI: 0.579
• hipred: Y
• hipred_score: 0.523
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Elmsan1

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: histone deacetylase complex;nucleus;nucleoplasm;transcription factor complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription factor binding;transcription regulatory region DNA binding