HELQ

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			4 clinvar	7 clinvar	3 clinvar	14
missense			135 clinvar	14 clinvar	7 clinvar	156
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	144	21	10	175

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_133636.5	RefSeq	NP_598375.3	18	MANE Select
ENST00000295488.8	Ensembl	ENSP00000295488.3	18	MANE Select
NM_001297755.2	RefSeq	NP_001284684.2	17	Standard
NM_001297756.2	RefSeq	NP_001284685.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

double-strand break repair via homologous recombination

Molecular Function

DNA binding
helicase activity
protein binding
ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295488
Coding exons: 18
Length: 48514
Individuals with no LoFs: 125606
Homozygous LoFs: 0
Heterozygous LoFs: 142
Defined: 125748
p: 0.000565

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.597	508	547	0.928	0.0000258	7189
Missense (PolyPhen)		115	134.05	0.85787		1724
Synonymous	0.174	198	201	0.984	0.00000983	2087
Loss of Function	2.87	26	47.3	0.549	0.00000219	691

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00039	0.00038	rare
Ashkenazi Jewish	0.0010	0.00099	notable
East Asian	0.00027	0.00027	rare
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00075	0.00074	rare
South Asian	0.00072	0.00069	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Single-stranded DNA-dependent ATPase and 5' to 3' DNA helicase (PubMed:11751861). Involved in the repair of DNA cross- links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904). {ECO:0000269|PubMed:11751861, ECO:0000269|PubMed:19995904}.;

Intolerance Scores

RVIS EVS: 1.78
RVIS percentile EVS: 96.86

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.931

Gene Damage Prediction

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