FSTL3

follistatin like 3

Basic information

Region (hg38): 19:676392-683392

Links

ENSG00000070404 ∙ NCBI:10272 ∙ OMIM:605343 ∙ HGNC:3973 ∙ Uniprot:O95633 ∙ 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 FSTL3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSTL3 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22	2		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	26	2	0

Variants in FSTL3

This is a list of pathogenic ClinVar variants found in the FSTL3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-676427-C-T		not specified	Uncertain significance (Nov 22, 2024)
19-676443-G-A		not specified	Uncertain significance (Sep 30, 2021)
19-676514-A-T		not specified	Uncertain significance (Nov 08, 2021)
19-676515-A-T		not specified	Uncertain significance (Nov 08, 2021)
19-677860-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-677881-G-A		not specified	Uncertain significance (Oct 03, 2022)
19-677900-G-C		not specified	Uncertain significance (Sep 27, 2022)
19-677941-G-A		not specified	Uncertain significance (Jun 26, 2023)
19-677960-A-G		not specified	Uncertain significance (Mar 31, 2023)
19-680304-G-A		not specified	Uncertain significance (Nov 30, 2022)
19-680309-G-A		not specified	Uncertain significance (Jun 30, 2022)
19-680361-C-T		not specified	Uncertain significance (Aug 26, 2022)
19-680447-G-A		not specified	Uncertain significance (Jul 16, 2021)
19-680464-C-A		not specified	Likely benign (Nov 12, 2024)
19-680468-A-G		not specified	Uncertain significance (Aug 12, 2021)
19-680480-C-A		not specified	Uncertain significance (Sep 17, 2021)
19-681350-G-T		not specified	Uncertain significance (Feb 28, 2023)
19-681357-C-T		not specified	Uncertain significance (Dec 21, 2023)
19-681387-C-T		not specified	Uncertain significance (May 13, 2024)
19-681407-G-C		not specified	Uncertain significance (Sep 26, 2022)
19-681414-G-T		not specified	Uncertain significance (Aug 12, 2022)
19-681422-C-A		not specified	Uncertain significance (Nov 18, 2024)
19-681426-G-C		not specified	Uncertain significance (May 01, 2024)
19-681540-G-A		not specified	Uncertain significance (Jan 31, 2024)
19-681545-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSTL3	protein_coding	protein_coding	ENST00000166139	5	6994

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.687	0.310	125511	0	2	125513	0.00000797

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	74	123	0.601	0.00000783	1636
Missense in Polyphen		14	49.464	0.28304		595
Synonymous	-0.188	59	57.2	1.03	0.00000434	531
Loss of Function	2.31	1	8.09	0.124	4.13e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000553	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000553	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10. {ECO:0000269|PubMed:11948405, ECO:0000269|PubMed:15451575, ECO:0000269|PubMed:15574124, ECO:0000269|PubMed:16336961, ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:17878677}.
• Pathway: Signal Transduction;Antagonism of Activin by Follistatin;Signaling by Activin;Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Signaling by TGF-beta family members (Consensus)

Recessive Scores

• pRec: 0.148

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.319
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.528

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fstl3
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype

Gene ontology

• Biological process: ossification;kidney development;hematopoietic progenitor cell differentiation;regulation of transcription by RNA polymerase II;spermatogenesis;male gonad development;positive regulation of cell-cell adhesion;lung development;adrenal gland development;negative regulation of BMP signaling pathway;negative regulation of activin receptor signaling pathway;post-translational protein modification;cellular protein metabolic process;negative regulation of osteoclast differentiation;positive regulation of transcription by RNA polymerase II;cellular response to metal ion;negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
• Cellular component: extracellular region;extracellular space;nucleus;nucleoplasm;endoplasmic reticulum lumen;Golgi apparatus;secretory granule;neuron projection terminus
• Molecular function: fibronectin binding;protein binding;activin binding