WDR93
protein-codingWD repeat domain 93, the group of WD repeat domain containing|Cilia and flagella associated
Gene summary
Predicted to be involved in electron transport chain. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~52.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0005258
Submitter: Ambry Genetics
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to WDR93 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020212.2. 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 | 1 | 3 | |||
| missense | 1 | 85 | 6 | 92 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 1 | 90 | 7 | 0 | 98 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_064597.1 | 16 | MANE Select | |
| Ensembl | ENSP00000268130.7 | 16 | MANE Select | |
| RefSeq | NP_001271324.1 | 16 | Standard | |
| RefSeq | NP_001271325.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- electron transport chain
Molecular Function
- NADH dehydrogenase (ubiquinone) activity
Cellular Component
- mitochondrial respiratory chain complex I
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000268130
- Coding exons
- 16
- Length
- 52842
- Individuals with no LoFs
- 125496
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 251
- Defined
- 125748
- p
- 0.00100
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.212 | 360 | 372 | 0.969 | 0.0000185 | 4500 |
| Missense (PolyPhen) | 89 | 106.23 | 0.83782 | 1375 | ||
| Synonymous | 0.821 | 131 | 144 | 0.913 | 0.00000822 | 1284 |
| Loss of Function | 1.22 | 30 | 38.1 | 0.787 | 0.00000195 | 432 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00068 | 0.00068 | rare |
| Latino/Admixed American | 0.00081 | 0.00081 | rare |
| Ashkenazi Jewish | 0.0024 | 0.0024 | notable |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.0012 | 0.0012 | notable |
| South Asian | 0.0011 | 0.0011 | notable |
| Other | 0.0020 | 0.0020 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.950
- RVIS EVS
- 1.76
- RVIS percentile EVS
- 96.73
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0925
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |