ANKRD35
protein-codingankyrin repeat domain 35, the group of Ankyrin repeat domain containing
Gene summary
Predicted to enable actin binding activity. [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 ~19.3 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 ANKRD35 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_144698.5. 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 | ||||
| missense | 151 | 13 | 164 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 152 | 15 | 0 | 167 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_653299.4 | 13 | MANE Select | |
| Ensembl | ENSP00000347802.4 | 13 | MANE Select | |
| RefSeq | NP_001267728.1 | 11 | Standard | |
| Ensembl | ENSP00000442671.2 | 11 | Standard |
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000355594
- Coding exons
- 13
- Length
- 19297
- Individuals with no LoFs
- 124708
- Homozygous LoFs
- 9
- Heterozygous LoFs
- 1031
- Defined
- 125748
- p
- 0.00414
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.322 | 532 | 553 | 0.961 | 0.0000298 | 6337 |
| Missense (PolyPhen) | 121 | 147.19 | 0.82205 | 1694 | ||
| Synonymous | -0.569 | 244 | 233 | 1.05 | 0.0000119 | 2118 |
| Loss of Function | 1.07 | 43 | 51.3 | 0.838 | 0.00000284 | 534 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0035 | 0.0035 | notable |
| Latino/Admixed American | 0.0041 | 0.0037 | notable |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0.023 | 0.023 | notable |
| Finnish | 0.0011 | 0.0010 | notable |
| European (Non-Finnish) | 0.0023 | 0.0023 | notable |
| South Asian | 0.0045 | 0.0044 | notable |
| Other | 0.0039 | 0.0038 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.993
- RVIS EVS
- 0.88
- RVIS percentile EVS
- 88.89
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0499
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |