HELB

DNA helicase B

Basic information

Region (hg38): 12:66302493-66343643

Links

ENSG00000127311

∙ NCBI:92797 ∙ OMIM:614539 ∙ HGNC:17196 ∙ Uniprot:Q8NG08 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

familial ovarian carcinoma (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HELB gene.

not_specified (142 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HELB gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370285.1. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			134 clinvar	8 clinvar	4 clinvar	146
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	134	8	5

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HELB	protein_coding	protein_coding	ENST00000247815	13	41099

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.59e-26	0.00169	120992	46	4710	125748	0.0191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.393	545	571	0.954	0.0000289	7180
Missense in Polyphen		167	175.07	0.95391		2253
Synonymous	0.650	199	211	0.943	0.0000114	2024
Loss of Function	0.602	41	45.4	0.904	0.00000231	581

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0180	0.0180
Ashkenazi Jewish	0.0212	0.0212
East Asian	0.00209	0.00201
Finnish	0.0211	0.0211
European (Non-Finnish)	0.0267	0.0267
Middle Eastern	0.00209	0.00201
South Asian	0.0128	0.0128
Other	0.0227	0.0226

dbNSFP

Source: dbNSFP

Function: FUNCTION: 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613). {ECO:0000269|PubMed:12181327, ECO:0000269|PubMed:22194613, ECO:0000269|PubMed:25617833, ECO:0000269|PubMed:26774285}.;

Recessive Scores

pRec: 0.0986

Intolerance Scores

loftool: 0.969
rvis_EVS: 1.08
rvis_percentile_EVS: 91.73

Haploinsufficiency Scores

pHI: 0.0365
hipred: N
hipred_score: 0.123
ghis: 0.471

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.845

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Helb
Phenotype: cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: DNA replication;DNA replication, synthesis of RNA primer;DNA repair;cellular response to DNA damage stimulus;DNA duplex unwinding;regulation of DNA double-strand break processing;negative regulation of double-strand break repair via homologous recombination
Cellular component: nucleus;DNA replication factor A complex;cytoplasm;site of double-strand break
Molecular function: RNA binding;ATP binding;single-stranded DNA-dependent ATP-dependent DNA helicase activity;ATP-dependent 5'-3' DNA helicase activity;protein-containing complex binding