FST

follistatin

Basic information

Region (hg38): 5:53480626-53487134

Links

ENSG00000134363 ∙ NCBI:10468 ∙ OMIM:136470 ∙ HGNC:3971 ∙ Uniprot:P19883 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FST gene.

• not_specified (27 variants)
• not_provided (6 variants)
• Orofacial_cleft (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FST gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013409.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense		1	27		3	31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	28	1	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FST	protein_coding	protein_coding	ENST00000256759	6	6726

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125746	0	2	125748	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.33	101	192	0.527	0.00000995	2257
Missense in Polyphen		29	80.938	0.3583		862
Synonymous	0.676	70	77.6	0.902	0.00000439	640
Loss of Function	3.52	1	16.4	0.0610	7.76e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds directly to activin and functions as an activin antagonist. Specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH).
• Pathway: TGF-beta signaling pathway - Homo sapiens (human);Hair Follicle Development- Induction (Part 1 of 3);Differentiation Pathway;TGF-beta Receptor Signaling;Signal Transduction;Antagonism of Activin by Follistatin;Signaling by Activin;BMP receptor signaling;Signaling by TGF-beta family members (Consensus)

Recessive Scores

• pRec: 0.486

Intolerance Scores

• rvis_EVS: 0.59
• rvis_percentile_EVS: 82.45

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.978

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Zebrafish Information Network

• Gene name: fsta
• Affected structure: ceratobranchial cartilage
• Phenotype tag: abnormal
• Phenotype quality: hyperplastic

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;hematopoietic progenitor cell differentiation;negative regulation of activin receptor signaling pathway;positive regulation of hair follicle development
• Cellular component: extracellular region
• Molecular function: protein binding;activin receptor antagonist activity;heparan sulfate proteoglycan binding;activin binding