FSIP1

protein-coding

fibrous sheath interacting protein 1

Gene summary

Predicted to act upstream of or within several processes, including axoneme assembly; homeostasis of number of cells within a tissue; and vesicle organization. Predicted to be active in acrosomal vesicle; nucleus; and sperm head. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_152597.5

Inheritance

—

ClinVar variants

U:86B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr15:39,588,357-39,782,841

External References & Databases

Ensembl (ENSG00000150667)

Transcript & Mutation Effects

hg38 • Region Span ~194.5 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 FSIP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 90

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152597.5. 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
missense			83 clinvar	9 clinvar	1 clinvar	93
nonsense			1 clinvar			1
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	86	10	1	97

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152597.5	RefSeq	NP_689810.3	11	MANE Select
ENST00000350221.4	Ensembl	ENSP00000280236.3	11	MANE Select
NM_001324338.2	RefSeq	NP_001311267.1	11	Standard
ENST00000559547.1	Ensembl	ENSP00000454177.1	1	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000350221
Coding exons: 11
Length: 182800
Individuals with no LoFs: 125448
Homozygous LoFs: 0
Heterozygous LoFs: 300
Defined: 125748
p: 0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.437	309	288	1.07	0.0000138	3847
Missense (PolyPhen)		80	75.984	1.0528		1073
Synonymous	0.432	94	99.5	0.945	0.00000482	1020
Loss of Function	0.570	22	25.1	0.877	0.00000105	378

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00068	0.00068	rare
Latino/Admixed American	0.00023	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00050	0.00049	rare
Finnish	0.00074	0.00074	rare
European (Non-Finnish)	0.0020	0.0020	notable
South Asian	0.0010	0.00098	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0765

Intolerance Scores

LoFtool: 0.919
RVIS EVS: 1.56
RVIS percentile EVS: 95.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.781

Gene Damage Prediction

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