ANKDD1A
protein-codingankyrin repeat and death domain containing 1A, the group of Ankyrin repeat domain containing
Gene summary
Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~46.8 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 ANKDD1A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_182703.6. 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 | 2 | 4 | |||
| missense | 80 | 5 | 85 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 84 | 7 | 0 | 91 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_874362.3 | 15 | MANE Select | |
| Ensembl | ENSP00000325895.9 | 15 | MANE Select | |
| Ensembl | ENSP00000379073.1 | 11 | Standard | |
| Ensembl | ENSP00000423548.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- signal transduction
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000380230
- Coding exons
- 15
- Length
- 46942
- Individuals with no LoFs
- 125633
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 115
- Defined
- 125748
- p
- 0.000457
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.645 | 284 | 316 | 0.898 | 0.0000193 | 3398 |
| Missense (PolyPhen) | 93 | 106.34 | 0.87456 | 1264 | ||
| Synonymous | -0.827 | 148 | 136 | 1.09 | 0.00000925 | 1062 |
| Loss of Function | 0.362 | 26 | 28.1 | 0.926 | 0.00000154 | 293 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0010 | 0.00098 | notable |
| Latino/Admixed American | 0.00032 | 0.00032 | rare |
| Ashkenazi Jewish | 0.00041 | 0.00040 | rare |
| East Asian | 0.0013 | 0.0011 | notable |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00038 | 0.00033 | rare |
| South Asian | 0.00069 | 0.00069 | rare |
| Other | 0.00067 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0916
Intolerance Scores
- LoFtool
- 0.622
- RVIS EVS
- -0.24
- RVIS percentile EVS
- 36.28
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0653
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |