FSTL5

protein-coding

follistatin like 5, the group of I-set domain containing|EF-hand domain containing

Gene summary

Predicted to enable calcium ion binding activity. Predicted to be involved in cell differentiation and regulation of BMP signaling pathway. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_020116.5

Inheritance

—

ClinVar variants

U:133

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.42

Max pathogenic AF

—

Genomic locus

chr4:161,383,897-162,164,004

External References & Databases

Ensembl (ENSG00000168843)

Transcript & Mutation Effects

hg38 • Region Span ~780.1 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FSTL5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 120

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020116.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			129 clinvar			129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	133	0	0	133

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020116.5	RefSeq	NP_064501.2	15	MANE Select
ENST00000306100.10	Ensembl	ENSP00000305334.4	15	MANE Select
NM_001128427.3	RefSeq	NP_001121899.1	15	Standard
NM_001128428.3	RefSeq	NP_001121900.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

calcium ion binding
protein binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306100
Coding exons: 15
Length: 780139
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 33
Defined: 125746
p: 0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0470	426	429	0.994	0.0000202	5587
Missense (PolyPhen)		227	226.68	1.0014		3030
Synonymous	-0.249	161	157	1.03	0.00000787	1551
Loss of Function	3.42	17	40.5	0.420	0.00000208	510

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.00017	0.00016	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0975

Intolerance Scores

LoFtool: 0.852
RVIS EVS: 0.54
RVIS percentile EVS: 81.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.216

Gene Damage Prediction

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