FSIP1

Chr 15

fibrous sheath interacting protein 1

Also known as: HSD10

NCBI Gene: 161835 ENSG00000150667 UniProt: Q8NA03 OMIM: 615795

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.57

OE 0.88 (0.63–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.44Z-score

OE missense 1.07 (0.98–1.18)

309 obs / 288.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.88 (0.63–1.25)

0≤0.351.4

Missense OE?1.07 (0.98–1.18)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 22 / 25.1Missense obs/exp: 309 / 288.1Syn Z: 0.43

Background carrier burden — how many people carry a rare variant somewhere in FSIP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

726 rare PASS variants

Rare truncating (LoF)

1 in 580

141 rare PASS variants

Rare synonymous (reference)

1 in 230

223 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FSIP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 530
South Asian	~43k	1 in 76	1 in 340
Remaining (unassigned)	~30k	1 in 61	1 in 330
European (Finnish)	~27k	1 in 220	1 in 670
Admixed American	~22k	1 in 67	1 in 480
African / African American	~21k	1 in 77	1 in 660
East Asian	~20k	1 in 100	1 in 610
Ashkenazi Jewish	~13k	1 in 500	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 99	≈ 1 in 690

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 11 coding exons well covered in gnomAD exomes; exons 4, 5, 6, 7 marginal. Genomes: all 11.? see exons ↓