WDCP
protein-codingWD repeat and coiled coil containing, the group of MRN complex
Gene summary
Enables kinase binding activity. Involved in protein complex oligomerization. [provided by Alliance of Genome Resources, Jul 2025]
- C2orf44
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~20.2 kbGenCC 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 WDCP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_025203.3. 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 | 0 | |||||
| missense | 11 | 1 | 12 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 13 | 1 | 0 | 14 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_079479.1 | 3 | MANE Select | |
| Ensembl | ENSP00000295148.4 | 3 | MANE Select | |
| RefSeq | NP_001135791.1 | 2 | Standard | |
| Ensembl | ENSP00000385816.3 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Mesodermal Commitment Pathway
Biological Process
- protein complex oligomerization
Molecular Function
- kinase binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000295148
- Coding exons
- 3
- Length
- 20236
- Individuals with no LoFs
- 125653
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 95
- Defined
- 125748
- p
- 0.000378
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.479 | 354 | 380 | 0.931 | 0.0000186 | 4710 |
| Missense (PolyPhen) | 75 | 104.08 | 0.7206 | 1404 | ||
| Synonymous | 0.709 | 137 | 148 | 0.926 | 0.00000766 | 1505 |
| Loss of Function | 2.25 | 8 | 18.4 | 0.434 | 8.42e-7 | 257 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.0025 | 0.0025 | notable |
| European (Non-Finnish) | 0.00018 | 0.00018 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Disease
- DISEASE: Note=A chromosomal aberration involving WDCP is found in one subject with colorectal cancer. Translocation t(2;2)(p23.3;p23.1). A 5 million base pair tandem duplication generates an in-frame WDCP-ALK gene fusion. {ECO:0000269|PubMed:22327622}.;
Recessive Scores
- pRec
- 0.0841
Intolerance Scores
- RVIS EVS
- 0.18
- RVIS percentile EVS
- 66.13
Essentials
- Essential (gene trap)
- N