MIS18BP1

protein-coding

MIS18 binding protein 1, the group of Myb/SANT domain containing

Gene summary

Predicted to enable DNA binding activity. Predicted to be involved in CENP-A containing chromatin assembly and obsolete pericentric heterochromatin organization. Predicted to be located in nucleoplasm. Predicted to be part of CENP-A recruiting complex. Predicted to be active in chromosome, centromeric region. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf106

MANE transcript

NM_018353.5

Inheritance

—

ClinVar variants

U:155B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr14:45,203,190-45,253,540

External References & Databases

Ensembl (ENSG00000129534)

Transcript & Mutation Effects

hg38 • Region Span ~50.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIS18BP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 146

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018353.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	1 clinvar	2 clinvar	6
missense			144 clinvar	5 clinvar	7 clinvar	156
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	155	6	9	170

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018353.5	RefSeq	NP_060823.3	16	MANE Select
ENST00000310806.9	Ensembl	ENSP00000309790.4	16	MANE Select
ENST00000451174.1	Ensembl	ENSP00000397184.1	1	Standard
ENST00000453142.3	Ensembl	ENSP00000402011.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nucleosome assembly
Chromosome Maintenance
Deposition of new CENPA-containing nucleosomes at the centromere
Cell Cycle

Biological Process

regulation of transcription by RNA polymerase II
cell cycle
CENP-A containing nucleosome assembly
cell division

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
DNA binding
protein binding

Cellular Component

condensed nuclear chromosome kinetochore
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000310806
Coding exons: 16
Length: 50351
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125743
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.282	569	550	1.03	0.0000260	7521
Missense (PolyPhen)		112	110.68	1.0119		1582
Synonymous	1.40	162	186	0.870	0.00000897	2002
Loss of Function	2.74	28	48.6	0.576	0.00000230	702

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00026	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.00011	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. {ECO:0000269|PubMed:17199038, ECO:0000269|PubMed:17339379}.;

Recessive Scores

pRec: 0.0697

Intolerance Scores

RVIS EVS: 1.74
RVIS percentile EVS: 96.64

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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