SLX1B

Chr 16

structure-specific endonuclease subunit SLX1B

Also known as: GIYD2

NCBI Gene: 79008ENSG00000181625UniProt: Q9BQ83OMIM: 615823

The protein functions as the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which resolves DNA secondary structures and Holliday junctions during DNA repair and recombination processes. Pathogenic variants in SLX1B have not been definitively associated with human disease in the medical literature. The gene shows tolerance to loss-of-function variants (pLI = 0.04, LOEUF = 1.72), suggesting that complete loss of function may be compatible with normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.72
Clinical Summary— SLX1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
77 unique Pathogenic / Likely Pathogenic· 19 VUS of 98 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.72LOEUF
pLI 0.044
Z-score 0.56
OE 0.66 (0.26–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.27Z-score
OE missense 0.26 (0.14–0.51)
6 obs / 23.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.26–1.72)
0≤0.351.4
Missense OE0.26 (0.14–0.51)
0≤0.61.4
Synonymous OE0.21
0≤1.21.6
LoF obs/exp: 2 / 3.0Missense obs/exp: 6 / 23.2Syn Z: 1.90

ClinVar Variant Classifications

98 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic70
Likely Pathogenic7
VUS19
Benign1
70
Pathogenic
7
Likely Pathogenic
19
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
70
0
70
Likely Pathogenic
0
0
7
0
7
VUS
0
10
9
0
19
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total01087097

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

View in ClinVar →

Protein Context — Lollipop Plot

SLX1B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
Differential alternative polyadenylation response to high-fat diet between polygenic obese and healthy lean mice.
Mikec Š et al.·Biochem Biophys Res Commun
2023
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Kretz PF et al.·Genome Biol
2023
Microduplication of 16p11.2 locus Potentiates Hypertrophic Obesity in Association with Imbalanced Triglyceride Metabolism in White Adipose Tissue
Wang D et al.·Mol Nutr Food Res
2022
Premalignant Oligodendrocyte Precursor Cells Stall in a Heterogeneous State of Replication Stress Prior to Gliomagenesis.
Sutcliffe MD et al.·Cancer Res
2021
Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
Joris S et al.·BMC Cancer
2024
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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