FSTL1

protein-coding

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

Gene summary

This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]

MANE transcript

NM_007085.5

Inheritance

—

ClinVar variants

U:60B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr3:120,392,293-120,451,016

External References & Databases

Ensembl (ENSG00000163430)

Transcript & Mutation Effects

hg38 • Region Span ~58.7 kb

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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 FSTL1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007085.5. 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			1 clinvar	1 clinvar		2
missense			52 clinvar			52
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	60	1	0	61

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007085.5	RefSeq	NP_009016.1	10	MANE Select
ENST00000295633.8	Ensembl	ENSP00000295633.3	10	MANE Select
ENST00000424703.6	Ensembl	ENSP00000394355.2	9	Standard
ENST00000424703.7	Ensembl	ENSP00000394355.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in epithelium - TarBase
miR-targeted genes in muscle cell - TarBase
Signal Transduction
Post-translational protein phosphorylation
Post-translational protein modification

Biological Process

BMP signaling pathway
response to starvation
post-translational protein modification
cellular protein metabolic process

Molecular Function

calcium ion binding
protein binding
heparin binding

Cellular Component

extracellular region
extracellular space
endoplasmic reticulum lumen
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295633
Coding exons: 10
Length: 58961
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125743
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.714	146	172	0.847	0.00000911	2037
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000073	0.000070	rare
South Asian	0.000072	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.171

Intolerance Scores

LoFtool: 0.590
RVIS EVS: -0.32
RVIS percentile EVS: 31.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.279

Gene Damage Prediction

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