FSCN1
fascin actin-bundling protein 1, the group of Fascin family
Basic information
Region (hg38): 7:5592816-5606655
Previous symbols: [ "SNL" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (61 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSCN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003088.4. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 60 | 61 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 1 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FSCN1 | protein_coding | protein_coding | ENST00000382361 | 5 | 13848 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.869 | 0.131 | 125638 | 0 | 5 | 125643 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.98 | 224 | 325 | 0.690 | 0.0000190 | 3179 |
| Missense in Polyphen | 74 | 128.31 | 0.57672 | 1317 | ||
| Synonymous | -0.249 | 153 | 149 | 1.03 | 0.00000993 | 988 |
| Loss of Function | 3.17 | 2 | 15.4 | 0.130 | 6.61e-7 | 170 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000980 | 0.00000880 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Organizes filamentous actin into bundles with a minimum of 4.1:1 actin/fascin ratio. Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers. Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration. {ECO:0000269|PubMed:20137952, ECO:0000269|PubMed:20393565, ECO:0000269|PubMed:9362073, ECO:0000269|PubMed:9571235}.;
- Pathway
- MicroRNAs in cancer - Homo sapiens (human);Interleukin-4 and 13 signaling
(Consensus)
Recessive Scores
- pRec
- 0.422
Intolerance Scores
- loftool
- 0.0477
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.22
Haploinsufficiency Scores
- pHI
- 0.213
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.565
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.918
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fscn1
- Phenotype
- cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; pigmentation phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; immune system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- fscn1a
- Affected structure
- cranial neural crest cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- cell-cell junction assembly;establishment or maintenance of cell polarity;cell population proliferation;positive regulation of lamellipodium assembly;cell migration;cytokine-mediated signaling pathway;microspike assembly;actin cytoskeleton organization;regulation of microvillus assembly;regulation of actin cytoskeleton organization;establishment of apical/basal cell polarity;cell motility;actin filament bundle assembly;positive regulation of filopodium assembly;positive regulation of podosome assembly;positive regulation of extracellular matrix disassembly
- Cellular component
- stress fiber;ruffle;podosome;cytoplasm;cytosol;cytoskeleton;microvillus;cell-cell junction;actin cytoskeleton;lamellipodium;filopodium;growth cone;cell projection membrane;myelin sheath;microspike;extracellular exosome;invadopodium
- Molecular function
- RNA binding;actin binding;protein binding;drug binding;protein binding, bridging;cadherin binding;actin filament binding