MCMBP

minichromosome maintenance complex binding protein

Basic information

Region (hg38): 10:119829403-119892556

Previous symbols: [ "C10orf119" ]

Links

ENSG00000197771 ∙ NCBI:79892 ∙ OMIM:610909 ∙ HGNC:25782 ∙ Uniprot:Q9BTE3 ∙ 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 MCMBP gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCMBP 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				1		1
missense			15	2		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	15	3	0

Variants in MCMBP

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

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

Position	Type	Phenotype	Significance	ClinVar
10-119831592-G-C		not specified	Uncertain significance (Oct 16, 2023)
10-119832041-A-C		not specified	Uncertain significance (Jul 19, 2023)
10-119835589-A-G		not specified	Uncertain significance (Jan 03, 2024)
10-119835613-A-T		not specified	Uncertain significance (Nov 19, 2022)
10-119836956-C-G		not specified	Uncertain significance (May 03, 2023)
10-119838693-C-T		not specified	Uncertain significance (Aug 30, 2021)
10-119838694-G-A		not specified	Uncertain significance (Nov 01, 2022)
10-119840868-C-T		not specified	Uncertain significance (Feb 05, 2024)
10-119842482-T-G		not specified	Uncertain significance (Oct 03, 2022)
10-119842523-A-G		not specified	Uncertain significance (Feb 06, 2024)
10-119842575-C-T		not specified	Uncertain significance (Mar 29, 2023)
10-119843284-C-T		not specified	Uncertain significance (Dec 08, 2023)
10-119849446-C-A		not specified	Uncertain significance (Feb 26, 2024)
10-119849496-G-C		not specified	Uncertain significance (May 16, 2022)
10-119849504-A-G		not specified	Uncertain significance (Mar 07, 2024)
10-119849553-A-G		not specified	Uncertain significance (Apr 13, 2022)
10-119853088-T-C		not specified	Likely benign (Jul 20, 2021)
10-119853103-A-G		not specified	Uncertain significance (Jun 29, 2023)
10-119853104-T-C		not specified	Uncertain significance (Feb 05, 2024)
10-119853181-G-A		not specified	Uncertain significance (Dec 20, 2023)
10-119853190-T-C		not specified	Uncertain significance (Nov 18, 2022)
10-119853194-C-T		not specified	Uncertain significance (Feb 02, 2024)
10-119857351-G-A		not specified	Uncertain significance (May 11, 2022)
10-119859042-T-C		not specified	Likely benign (Feb 27, 2023)
10-119859073-A-G		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCMBP	protein_coding	protein_coding	ENST00000360003	16	63097

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00435	125734	0	10	125744	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.98	238	341	0.698	0.0000179	4233
Missense in Polyphen		62	108.04	0.57388		1304
Synonymous	0.711	116	126	0.919	0.00000690	1186
Loss of Function	4.74	4	33.7	0.119	0.00000177	408

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000598	0.0000598
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000357	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion. {ECO:0000269|PubMed:20090939, ECO:0000269|PubMed:21196493}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.44

Haploinsufficiency Scores

• pHI: 0.124
• hipred: Y
• hipred_score: 0.783
• ghis: 0.662

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mcmbp

Gene ontology

• Biological process: DNA-dependent DNA replication;sister chromatid cohesion;cell division
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;cytosol;plasma membrane;MCM complex
• Molecular function: chromatin binding;protein binding