FCHSD1
protein-codingFCH and double SH3 domains 1, the group of F-BAR domain containing
Gene summary
Predicted to enable lipid binding activity. Predicted to be involved in neuromuscular synaptic transmission and positive regulation of actin filament polymerization. Predicted to act upstream of or within several processes, including import into nucleus; inflammatory response; and response to hydrogen peroxide. Predicted to be located in cuticular plate. Predicted to be part of protein-containing complex. Predicted to be active in neuromuscular junction and recycling endosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~12.1 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 FCHSD1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_033449.3. 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 | 121 | 2 | 123 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 0 | 0 | 129 | 3 | 0 | 132 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_258260.1 | 20 | MANE Select | |
| Ensembl | ENSP00000399259.2 | 20 | MANE Select | |
| Ensembl | ENSP00000430448.1 | 5 | Standard | |
| Ensembl | ENSP00000428776.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- neuromuscular synaptic transmission
- regulation of actin filament polymerization
Cellular Component
- neuromuscular junction
- recycling endosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000435817
- Coding exons
- 20
- Length
- 12118
- Individuals with no LoFs
- 123956
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 699
- Defined
- 124660
- p
- 0.00283
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.798 | 358 | 403 | 0.888 | 0.0000251 | 4368 |
| Missense (PolyPhen) | 125 | 132.86 | 0.94085 | 1522 | ||
| Synonymous | 1.97 | 129 | 161 | 0.802 | 0.00000913 | 1418 |
| Loss of Function | -0.0655 | 47 | 46.5 | 1.01 | 0.00000288 | 447 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0015 | 0.0015 | notable |
| Latino/Admixed American | 0.0012 | 0.0012 | notable |
| Ashkenazi Jewish | 0.00020 | 0.00020 | rare |
| East Asian | 0.0017 | 0.0017 | notable |
| Finnish | 0.014 | 0.012 | notable |
| European (Non-Finnish) | 0.0031 | 0.0027 | notable |
| South Asian | 0.0018 | 0.0015 | notable |
| Other | 0.0028 | 0.0023 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0882
Intolerance Scores
- LoFtool
- 0.949
- RVIS EVS
- 0.23
- RVIS percentile EVS
- 68.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.541
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |