ANKAR
protein-codingankyrin and armadillo repeat containing, the group of Armadillo repeat containing|Ankyrin repeat domain containing
Gene summary
Predicted to be located in membrane. [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 ~86.9 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 ANKAR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001378068.1. 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 | 3 | 4 | 10 | ||
| missense | 181 | 9 | 6 | 196 | ||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 190 | 13 | 10 | 213 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001364997.1 | 22 | MANE Select | |
| Ensembl | ENSP00000507233.1 | 22 | MANE Select | |
| RefSeq | NP_653309.3 | 22 | Standard | |
| Ensembl | ENSP00000313513.4 | 22 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000520309
- Coding exons
- 22
- Length
- 86904
- Individuals with no LoFs
- 125263
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 484
- Defined
- 125748
- p
- 0.00193
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.855 | 647 | 711 | 0.910 | 0.0000349 | 9401 |
| Missense (PolyPhen) | 163 | 182.6 | 0.89267 | 2489 | ||
| Synonymous | 1.78 | 214 | 250 | 0.857 | 0.0000123 | 2683 |
| Loss of Function | 1.07 | 53 | 62.1 | 0.853 | 0.00000308 | 883 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0018 | 0.0017 | notable |
| Latino/Admixed American | 0.0012 | 0.0011 | notable |
| Ashkenazi Jewish | 0.0011 | 0.0011 | notable |
| East Asian | 0.0035 | 0.0034 | notable |
| Finnish | 0.00032 | 0.00032 | rare |
| European (Non-Finnish) | 0.0014 | 0.0014 | notable |
| South Asian | 0.0058 | 0.0055 | notable |
| Other | 0.0017 | 0.0016 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0970
Intolerance Scores
- LoFtool
- 0.989
- RVIS EVS
- 2.94
- RVIS percentile EVS
- 99.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.402
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |