HUS1B

protein-coding

HUS1 checkpoint clamp component B

Gene summary

The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]

MANE transcript

NM_148959.4

Inheritance

—

ClinVar variants

U:62B:10

Top phenotype

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr6:655,939-657,100

External References & Databases

Ensembl (ENSG00000188996)

Transcript & Mutation Effects

hg38 • Region Span ~1.2 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 HUS1B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 64

not providedTotal: 7

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_148959.4. 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				2 clinvar	1 clinvar	3
missense			61 clinvar	5 clinvar	2 clinvar	68
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	7	3	72

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_148959.4	RefSeq	NP_683762.2	1	MANE Select
ENST00000380907.3	Ensembl	ENSP00000370293.2	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miRNA Regulation of DNA Damage Response
DNA Damage Response

Biological Process

telomere maintenance
double-strand break repair via homologous recombination
nucleotide-excision repair
intra-S DNA damage checkpoint
mitotic DNA replication checkpoint

Cellular Component

nucleolus
checkpoint clamp complex
site of double-strand break

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380907
Coding exons: 1
Length: 1025

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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0828

Intolerance Scores

LoFtool: 0.710
RVIS EVS: 0.33
RVIS percentile EVS: 73.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.621

Gene Damage Prediction

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