FSD1L

Chr 9

fibronectin type III and SPRY domain containing 1 like

Also known as: CCDC10, CSDUFD1, FSD1CL, FSD1NL, MIR1

NCBI Gene: 83856ENSG00000106701UniProt: Q9BXM9

I cannot write a clinical summary for FSD1L based on the provided information. The data only includes predicted subcellular localization and constraint metrics, but lacks essential clinical information such as the protein's specific function, associated diseases, inheritance patterns, or pathogenic mechanisms needed for a pediatric neurogenetics portal.

Summary from RefSeq, Mechanism
Research Assistant →
0
Active trials
3
Pubs (1 yr)
38
P/LP submissions
0%
P/LP missense
0.48
LOEUF
LOF
Mechanism· G2P
Clinical Summary— FSD1L
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 55 VUS of 108 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.234
Z-score 3.50
OE 0.24 (0.13–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.52Z-score
OE missense 0.71 (0.62–0.81)
156 obs / 219.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.24 (0.13–0.48)
0≤0.351.4
Missense OE0.71 (0.62–0.81)
0≤0.61.4
Synonymous OE0.76
0≤1.21.6
LoF obs/exp: 6 / 24.8Missense obs/exp: 156 / 219.4Syn Z: 1.61
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateFSD1L-related neurodevelopmental disorder with hydrocephalus and corpus callosum anomaliesLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7130th %ile
GOF
0.6346th %ile
LOF
0.3454th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

108 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic2
VUS55
Likely Benign2
Benign2
36
Pathogenic
2
Likely Pathogenic
55
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
2
0
2
VUS
0
49
6
0
55
Likely Benign
0
2
0
0
2
Benign
0
2
0
0
2
Total05344097

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FSD1L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients