FLACC1
protein-codingflagellum associated containing coiled-coil domains 1
Gene summary
Predicted to be located in cytoplasmic vesicle; outer dense fiber; and sperm fibrous sheath. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- ALS2CR12
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~69.1 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 FLACC1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001127391.3. 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 | 1 | 1 | ||||
| missense | 62 | 7 | 69 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 62 | 8 | 0 | 70 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001120863.1 | 14 | MANE Select | |
| Ensembl | ENSP00000376086.3 | 14 | MANE Select | |
| RefSeq | NP_001276922.1 | 14 | Standard | |
| RefSeq | NP_631902.2 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- molecular_function
- protein binding
Cellular Component
- cellular_component
- cytoplasm
- motile cilium
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000405148
- Coding exons
- 14
- Length
- 69128
- Individuals with no LoFs
- 125526
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 221
- Defined
- 125748
- p
- 0.000883
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.199 | 241 | 232 | 1.04 | 0.0000118 | 2976 |
| Missense (PolyPhen) | 71 | 63.679 | 1.115 | 856 | ||
| Synonymous | -0.0574 | 80 | 79.3 | 1.01 | 0.00000399 | 734 |
| Loss of Function | -0.445 | 32 | 29.4 | 1.09 | 0.00000133 | 363 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0037 | 0.0036 | notable |
| Latino/Admixed American | 0.00046 | 0.00046 | rare |
| Ashkenazi Jewish | 0.0049 | 0.0049 | notable |
| East Asian | 0.0014 | 0.0014 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00043 | 0.00043 | rare |
| South Asian | 0.00062 | 0.00062 | rare |
| Other | 0.00081 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0585
Intolerance Scores
- LoFtool
- 0.992
- RVIS EVS
- -0.73
- RVIS percentile EVS
- 14.08
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0176
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |