MCIDAS

multiciliate differentiation and DNA synthesis associated cell cycle protein

Basic information

Region (hg38): 5:55219564-55227315

Previous symbols: [ "MCIN" ]

Links

ENSG00000234602 ∙ NCBI:345643 ∙ OMIM:614086 ∙ HGNC:40050 ∙ Uniprot:D6RGH6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ciliary dyskinesia, primary, 42 (Strong), mode of inheritance: AR
• ciliary dyskinesia, primary, 42 (Moderate), mode of inheritance: AR
• ciliary dyskinesia, primary, 42 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• ciliary dyskinesia, primary, 42 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 42	AR	Allergy/Immunology/Infectious; Pulmonary	Pulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary	Allergy/Immunology/Infectious; Neurologic; Pulmonary	25048963; 30237576

ClinVar

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

• Primary_ciliary_dyskinesia (158 variants)
• Inborn_genetic_diseases (53 variants)
• Ciliary_dyskinesia,_primary,_42 (15 variants)
• not_provided (12 variants)
• MCIDAS-related_disorder (6 variants)
• Primary_ciliary_dyskinesia_3 (1 variants)
• not_specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCIDAS gene is commonly pathogenic or not. These statistics are base on transcript: NM_001190787.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				66	3	69
missense	2	1	84	7		94
nonsense	2	1				3
start loss						0
frameshift	5	1				6
splice donor/acceptor (+/-2bp)	2	1	1			4
Total	11	4	85	73	3

Highest pathogenic variant AF is 0.0000072265

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCIDAS	protein_coding	protein_coding	ENST00000513312	7	7702

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0133	0.958	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	126	201	0.626	0.00000949	2472
Missense in Polyphen		43	66.972	0.64206		835
Synonymous	1.50	72	90.1	0.799	0.00000441	819
Loss of Function	1.90	5	12.2	0.411	5.27e-7	161

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	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211). {ECO:0000250|UniProtKB:Q08B36, ECO:0000269|PubMed:21543332, ECO:0000269|PubMed:24064211, ECO:0000269|PubMed:25048963}.

Haploinsufficiency Scores

• ghis: 0.396

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: Mcidas

Gene ontology

• Biological process: regulation of DNA replication;cell cycle;regulation of mitotic cell cycle;motile cilium assembly;positive regulation of transcription by RNA polymerase II;cilium assembly;centriole assembly;multi-ciliated epithelial cell differentiation
• Cellular component: nucleus;nucleolus;nuclear body
• Molecular function: transcription coactivator activity;protein binding;identical protein binding