FASLG

Chr 1

Fas ligand

Also known as: ALPS1B, APT1LG1, APTL, CD178, CD95-L, CD95L, FASL, TNFSF6

NCBI Gene: 356ENSG00000117560UniProt: P48023

This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAutoimmune lymphoproliferative syndrome 1B

Clinical highlights

Gene-disease validity (ClinGen)
autoimmune lymphoproliferative syndrome type 1 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
56
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
DN
Mechanism· predicted
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GeneReview available — FASLG
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.183
Z-score 2.20
OE 0.28 (0.13–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.87 (0.76–1.00)
135 obs / 155.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.13–0.72)
0≤0.351.4
Missense OE?0.87 (0.76–1.00)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 3 / 10.8Missense obs/exp: 135 / 155.2Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FASLG · protein map & ClinVar variants

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

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