FNDC7
protein-codingfibronectin type III domain containing 7, the group of Fibronectin type III domain containing
Gene summary
Predicted to be located in extracellular region. [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 ~29.8 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 FNDC7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001144937.3. 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 | 3 | 3 | ||||
| missense | 105 | 6 | 111 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 105 | 9 | 0 | 114 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001138409.1 | 12 | MANE Select | |
| Ensembl | ENSP00000359034.3 | 12 | MANE Select | |
| Ensembl | ENSP00000405986.1 | 7 | Standard | |
| Ensembl | ENSP00000602477.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000370017
- Coding exons
- 12
- Length
- 30087
- Individuals with no LoFs
- 125045
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 699
- Defined
- 125748
- p
- 0.00280
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.767 | 355 | 398 | 0.892 | 0.0000204 | 4720 |
| Missense (PolyPhen) | 129 | 145.34 | 0.88757 | 1731 | ||
| Synonymous | 1.44 | 131 | 154 | 0.852 | 0.00000846 | 1480 |
| Loss of Function | 1.72 | 22 | 32.6 | 0.675 | 0.00000164 | 413 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0075 | 0.0075 | notable |
| Latino/Admixed American | 0.00046 | 0.00046 | rare |
| Ashkenazi Jewish | 0.0066 | 0.0063 | notable |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.016 | 0.016 | notable |
| European (Non-Finnish) | 0.0012 | 0.0012 | notable |
| South Asian | 0.00043 | 0.00042 | rare |
| Other | 0.0025 | 0.0024 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.412
- RVIS EVS
- 1.38
- RVIS percentile EVS
- 94.6
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.135
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |