WDSUB1

protein-coding

WD repeat, sterile alpha motif and U-box domain containing 1, the group of WD repeat domain containing|Sterile alpha motif domain containing|U-box domain containing

Gene summary

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

WDSAM1

MANE transcript

NM_001128212.3

Inheritance

—

ClinVar variants

U:71B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.94

Max pathogenic AF

—

Genomic locus

chr2:159,235,798-159,286,703

External References & Databases

Ensembl (ENSG00000196151)

Transcript & Mutation Effects

hg38 • Region Span ~50.9 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 WDSUB1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 58

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001128212.3. 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			3
missense			61 clinvar	5 clinvar		66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	71	5	0	76

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 107 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001128212.3	RefSeq	NP_001121684.1	10	MANE Select
ENST00000359774.9	Ensembl	ENSP00000352820.4	10	MANE Select
NM_001128213.2	RefSeq	NP_001121685.1	10	Standard
NM_001307994.2	RefSeq	NP_001294923.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein ubiquitination

Molecular Function

ubiquitin-protein transferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000409990
Coding exons: 10
Length: 51007
Individuals with no LoFs: 125616
Homozygous LoFs: 0
Heterozygous LoFs: 132
Defined: 125748
p: 0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.343	232	247	0.939	0.0000122	3102
Missense (PolyPhen)		99	108.31	0.91401		1372
Synonymous	0.929	81	92.4	0.877	0.00000488	906
Loss of Function	0.244	21	22.2	0.944	0.00000100	292

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00074	0.00074	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0.00022	0.00020	rare
East Asian	0.00049	0.00049	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00079	0.00076	rare
South Asian	0.00035	0.00033	rare
Other	0.00069	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.210

Intolerance Scores

LoFtool: 0.767
RVIS EVS: 0.13
RVIS percentile EVS: 63.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0168

Gene Damage Prediction

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