WDR70

protein-coding

WD repeat domain 70, the group of WD repeat domain containing

Gene summary

Enables enzyme binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus and site of double-strand break. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018034.4

Inheritance

—

ClinVar variants

U:72B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr5:37,379,285-37,753,435

External References & Databases

Ensembl (ENSG00000082068)

Transcript & Mutation Effects

hg38 • Region Span ~374.2 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 WDR70 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 64

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018034.4. 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			3 clinvar		2 clinvar	5
missense			66 clinvar	2 clinvar		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	72	2	2	76

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018034.4	RefSeq	NP_060504.1	18	MANE Select
ENST00000265107.9	Ensembl	ENSP00000265107.4	18	MANE Select
NM_001345998.2	RefSeq	NP_001332927.1	18	Standard
NM_001345999.2	RefSeq	NP_001332928.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of DNA double-strand break processing
regulation of histone H2B conserved C-terminal lysine ubiquitination

Molecular Function

enzyme binding

Cellular Component

nucleus
site of double-strand break

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265107
Coding exons: 18
Length: 374224
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 125748
p: 0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.21	259	380	0.681	0.0000207	4322
Missense (PolyPhen)		52	114.77	0.45307		1272
Synonymous	-1.34	145	126	1.15	0.00000662	1199
Loss of Function	2.78	21	40.0	0.525	0.00000219	465

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0.00021	0.00020	rare
East Asian	0.00016	0.00016	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00023	0.00023	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.525
RVIS EVS: -0.89
RVIS percentile EVS: 10.3

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.937

Gene Damage Prediction

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