SLX1A-SULT1A3

Chr 16

SLX1A-SULT1A3 readthrough (NMD candidate)

This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located approximately 730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017]

0
Active trials
40
Pathogenic / LP
75
ClinVar variants
1
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummarySLX1A-SULT1A3
📋
ClinVar Variants
40 Pathogenic / Likely Pathogenic· 31 VUS of 75 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

75 submitted variants in ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic9
VUS31
Likely Benign4
31
Pathogenic
9
Likely Pathogenic
31
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
9
0
9
VUS
0
30
1
0
31
Likely Benign
0
2
0
2
4
Benign
0
0
0
0
0
Total03241275

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

View in ClinVar →

Protein Context — Lollipop Plot

SLX1A-SULT1A3 · 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

No active trials found for this gene.

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Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found