MIS18BP1

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

Basic information

Region (hg38): 14:45203190-45253540

Previous symbols: [ "C14orf106" ]

Links

ENSG00000129534 ∙ NCBI:55320 ∙ OMIM:618139 ∙ HGNC:20190 ∙ Uniprot:Q6P0N0 ∙ 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 MIS18BP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIS18BP1 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	2	3
missense			77	3	7	87
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	77	4	9

Variants in MIS18BP1

This is a list of pathogenic ClinVar variants found in the MIS18BP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-45204158-A-G		not specified	Uncertain significance (Mar 23, 2022)
14-45204422-C-T		not specified	Uncertain significance (Sep 11, 2024)
14-45204435-T-C		not specified	Uncertain significance (Jul 09, 2024)
14-45204457-T-A			Benign (Feb 25, 2018)
14-45210447-T-C		not specified	Uncertain significance (Jul 16, 2024)
14-45210483-T-C		not specified	Uncertain significance (Feb 28, 2024)
14-45210520-A-C		not specified	Uncertain significance (Dec 17, 2023)
14-45217066-G-C		not specified	Uncertain significance (Aug 20, 2024)
14-45217141-T-C		not specified	Uncertain significance (May 15, 2024)
14-45218293-T-C		not specified	Uncertain significance (Jan 23, 2024)
14-45218306-G-T		not specified	Uncertain significance (Aug 17, 2022)
14-45218309-T-G		not specified	Uncertain significance (Mar 13, 2023)
14-45218323-T-G		not specified	Uncertain significance (Nov 10, 2022)
14-45218357-T-A		not specified	Uncertain significance (Jan 08, 2024)
14-45218401-G-A		not specified	Uncertain significance (Jan 06, 2023)
14-45218431-T-C		not specified	Uncertain significance (Sep 27, 2021)
14-45223920-A-C		not specified	Uncertain significance (Feb 28, 2023)
14-45223927-T-C		not specified	Uncertain significance (Sep 14, 2022)
14-45223949-A-G		not specified	Uncertain significance (Dec 07, 2023)
14-45223958-C-A		not specified	Uncertain significance (Feb 07, 2023)
14-45223958-C-T		not specified	Uncertain significance (Sep 27, 2021)
14-45223985-A-C		not specified	Uncertain significance (Jan 23, 2024)
14-45224046-A-G			Benign (Jun 14, 2018)
14-45224047-C-A			Benign (Apr 16, 2018)
14-45224047-C-T		not specified	Likely benign (Sep 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIS18BP1	protein_coding	protein_coding	ENST00000310806	16	50351

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.83e-13	0.995	125706	0	37	125743	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.282	569	550	1.03	0.0000260	7521
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000630	0.000630
Ashkenazi Jewish	0.00	0.00
East Asian	0.000222	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000222	0.000217
South Asian	0.000105	0.0000980
Other	0.00	0.00

dbNSFP

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}.
• Pathway: Nucleosome assembly;Chromosome Maintenance;Deposition of new CENPA-containing nucleosomes at the centromere;Cell Cycle (Consensus)

Recessive Scores

• pRec: 0.0697

Intolerance Scores

• rvis_EVS: 1.74
• rvis_percentile_EVS: 96.64

Haploinsufficiency Scores

• pHI: 0.260
• hipred: N
• hipred_score: 0.233
• ghis: 0.525

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: Mis18bp1
• Phenotype: limbs/digits/tail phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;cell cycle;CENP-A containing nucleosome assembly;cell division
• Cellular component: condensed nuclear chromosome kinetochore;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding