FSTL1

follistatin like 1, the group of SPARC family|MicroRNA protein coding host genes

Basic information

Region (hg38): 3:120392292-120450993

Links

ENSG00000163430 ∙ NCBI:11167 ∙ OMIM:605547 ∙ HGNC:3972 ∙ Uniprot:Q12841 ∙ 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 FSTL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSTL1 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			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	22	0	0

Variants in FSTL1

This is a list of pathogenic ClinVar variants found in the FSTL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-120396974-C-G		not specified	Uncertain significance (Feb 06, 2023)
3-120399900-C-G		not specified	Uncertain significance (Jun 30, 2022)
3-120399944-C-G		not specified	Uncertain significance (Aug 30, 2021)
3-120402809-G-A			Benign/Likely benign (Oct 01, 2023)
3-120402816-G-A		not specified	Uncertain significance (Jan 25, 2023)
3-120402832-C-T		not specified	Uncertain significance (Aug 19, 2023)
3-120402852-A-T		not specified	Uncertain significance (Mar 28, 2024)
3-120402868-C-T		not specified	Uncertain significance (Apr 28, 2023)
3-120402871-C-T		not specified	Uncertain significance (Oct 05, 2022)
3-120403260-A-C		not specified	Uncertain significance (Dec 06, 2022)
3-120403284-A-T		not specified	Uncertain significance (Oct 26, 2022)
3-120403313-T-G		not specified	Uncertain significance (Feb 21, 2024)
3-120403332-T-C		not specified	Uncertain significance (Dec 21, 2023)
3-120404892-A-G		not specified	Uncertain significance (Feb 03, 2022)
3-120409570-C-T		not specified	Uncertain significance (Apr 04, 2024)
3-120409586-A-C		not specified	Uncertain significance (Jul 06, 2021)
3-120409627-G-A		not specified	Uncertain significance (Feb 10, 2022)
3-120409642-G-A		not specified	Uncertain significance (Jan 17, 2024)
3-120409653-T-C		not specified	Uncertain significance (May 30, 2024)
3-120411869-C-T		not specified	Uncertain significance (Feb 03, 2022)
3-120411910-C-T		not specified	Uncertain significance (Jun 10, 2024)
3-120411962-G-C		not specified	Uncertain significance (Sep 16, 2021)
3-120415934-G-C		not specified	Uncertain significance (Nov 10, 2022)
3-120415972-C-T		not specified	Uncertain significance (Nov 30, 2022)
3-120415976-C-T		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSTL1	protein_coding	protein_coding	ENST00000295633	10	58961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.894	0.106	125732	0	11	125743	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.714	146	172	0.847	0.00000911	2037
Missense in Polyphen		30	47.317	0.63402		560
Synonymous	0.743	56	63.5	0.881	0.00000333	546
Loss of Function	3.58	3	20.5	0.146	0.00000102	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000726	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000721	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity). {ECO:0000250}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in muscle cell - TarBase;Signal Transduction;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);BMP Signalling Pathway;Signaling by BMP;Signaling by TGF-beta family members (Consensus)

Recessive Scores

• pRec: 0.171

Intolerance Scores

• loftool: 0.590
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.524
• hipred: Y
• hipred_score: 0.825
• ghis: 0.658

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.279

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fstl1
• Phenotype: homeostasis/metabolism phenotype; muscle 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); embryo phenotype; skeleton phenotype; renal/urinary system 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; 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); normal phenotype; 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); respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: BMP signaling pathway;response to starvation;post-translational protein modification;cellular protein metabolic process
• Cellular component: extracellular region;extracellular space;endoplasmic reticulum lumen;extracellular exosome
• Molecular function: calcium ion binding;protein binding;heparin binding