HUS1B

HUS1 checkpoint clamp component B

Basic information

Region (hg38): 6:655939-657100

Links

ENSG00000188996 ∙ NCBI:135458 ∙ OMIM:609713 ∙ HGNC:16485 ∙ Uniprot:Q8NHY5 ∙ 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 HUS1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HUS1B 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			40	2	3	45
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	2	4

Variants in HUS1B

This is a list of pathogenic ClinVar variants found in the HUS1B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-656176-T-C		not specified	Uncertain significance (Jan 31, 2022)
6-656183-A-C		not specified	Uncertain significance (May 13, 2024)
6-656213-T-G		not specified	Uncertain significance (Apr 25, 2023)
6-656247-T-C		not specified	Uncertain significance (Sep 04, 2024)
6-656267-C-G		not specified	Uncertain significance (Jun 07, 2023)
6-656269-T-C		not specified	Uncertain significance (Nov 08, 2022)
6-656281-C-A		not specified	Uncertain significance (Feb 04, 2025)
6-656286-T-A		not specified	Uncertain significance (Jan 04, 2024)
6-656314-G-T		not specified	Uncertain significance (Jan 29, 2024)
6-656350-A-G		not specified	Uncertain significance (Dec 22, 2023)
6-656410-C-T		not specified	Uncertain significance (Feb 01, 2025)
6-656416-T-C			Benign (Mar 29, 2018)
6-656442-A-G		not specified	Uncertain significance (Oct 26, 2022)
6-656461-A-C		not specified	Uncertain significance (Feb 08, 2025)
6-656463-C-A		not specified	Uncertain significance (Mar 18, 2024)
6-656466-G-A		not specified	Uncertain significance (Oct 16, 2023)
6-656481-G-C		not specified	Uncertain significance (May 27, 2022)
6-656506-G-A		not specified	Uncertain significance (Jun 21, 2023)
6-656517-C-T		not specified	Uncertain significance (Aug 19, 2024)
6-656518-G-A		not specified	Uncertain significance (Aug 03, 2022)
6-656523-A-T		not specified	Uncertain significance (Jul 09, 2021)
6-656539-C-A			Benign (Mar 29, 2018)
6-656541-C-G		not specified	Uncertain significance (Apr 06, 2023)
6-656555-G-T			Benign (Apr 20, 2019)
6-656565-C-T		not specified	Uncertain significance (Dec 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HUS1B	protein_coding	protein_coding	ENST00000380907	1	1025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.448	208	191	1.09	0.0000143	1765
Missense in Polyphen		50	44.681	1.119		513
Synonymous	-0.473	97	91.3	1.06	0.00000747	614
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Pathway: miRNA Regulation of DNA Damage Response;DNA Damage Response (Consensus)

Recessive Scores

• pRec: 0.0828

Intolerance Scores

• loftool: 0.710
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.240
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.621

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hus1b

Gene ontology

• Biological process: telomere maintenance;double-strand break repair via homologous recombination;nucleotide-excision repair;intra-S DNA damage checkpoint;mitotic DNA replication checkpoint;meiotic DNA integrity checkpoint
• Cellular component: nucleolus;checkpoint clamp complex;site of double-strand break