FSTL4

follistatin like 4, the group of MicroRNA protein coding host genes|EF-hand domain containing|I-set domain containing

Basic information

Region (hg38): 5:133196454-133612541

Links

ENSG00000053108 ∙ NCBI:23105 ∙ ∙ HGNC:21389 ∙ Uniprot:Q6MZW2 ∙ 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 FSTL4 gene.

• Inborn genetic diseases (40 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSTL4 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				3	2	5
missense			34	7	1	42
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	34	10	3

Variants in FSTL4

This is a list of pathogenic ClinVar variants found in the FSTL4 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-133199130-C-T		not specified	Likely benign (Mar 29, 2023)
5-133199154-G-A		not specified	Uncertain significance (Jan 26, 2022)
5-133199195-C-A		not specified	Uncertain significance (Dec 20, 2023)
5-133199247-T-C		not specified	Uncertain significance (Jan 03, 2022)
5-133199255-C-T		not specified	Uncertain significance (Oct 14, 2021)
5-133199280-C-T		not specified	Likely benign (Oct 26, 2022)
5-133199321-G-A		not specified	Uncertain significance (Sep 25, 2023)
5-133199364-C-T		not specified	Likely benign (Jan 19, 2024)
5-133199369-T-G		not specified	Uncertain significance (Jan 18, 2022)
5-133199426-C-T		not specified	Uncertain significance (Apr 04, 2023)
5-133199429-G-A		not specified	Uncertain significance (Apr 07, 2022)
5-133199437-T-C			Likely benign (May 01, 2022)
5-133199516-C-T		not specified	Uncertain significance (May 30, 2023)
5-133199528-C-T		not specified	Uncertain significance (Jan 08, 2024)
5-133199533-G-A			Benign (Dec 31, 2019)
5-133199604-C-T		not specified	Likely benign (Feb 17, 2023)
5-133199664-C-T		not specified	Uncertain significance (Nov 14, 2023)
5-133199670-G-C		not specified	Uncertain significance (Jun 28, 2023)
5-133199690-T-C		not specified	Uncertain significance (May 09, 2022)
5-133199741-G-T		not specified	Uncertain significance (Sep 17, 2021)
5-133199772-C-G		not specified	Uncertain significance (Dec 20, 2021)
5-133201952-G-A			Likely benign (May 08, 2018)
5-133201987-G-A		not specified	Uncertain significance (Dec 21, 2022)
5-133201999-C-T		not specified	Uncertain significance (Nov 18, 2023)
5-133202000-G-A		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSTL4	protein_coding	protein_coding	ENST00000265342	15	416109

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0179	0.982	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	440	504	0.873	0.0000296	5504
Missense in Polyphen		128	170.78	0.7495		1956
Synonymous	-0.266	222	217	1.02	0.0000143	1716
Loss of Function	4.45	12	43.8	0.274	0.00000263	420

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000277	0.000276
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000195	0.000185
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.365
• rvis_EVS: -0.48
• rvis_percentile_EVS: 22.82

Haploinsufficiency Scores

• pHI: 0.0989
• hipred: Y
• hipred_score: 0.554
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.118

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fstl4
• Phenotype: normal phenotype

Gene ontology

• Biological process: negative regulation of brain-derived neurotrophic factor receptor signaling pathway;negative regulation of collateral sprouting;negative regulation of dendritic spine development
• Cellular component: extracellular region;secretory granule
• Molecular function: calcium ion binding;brain-derived neurotrophic factor binding