SLX1B-SULT1A4

Chr 16

SLX1B-SULT1A4 readthrough (NMD candidate)

This locus represents a naturally occurring read-through transcript between the SLX1B and SULT1A4 genes that is likely subject to nonsense-mediated decay and unlikely to produce a functional protein product. No disease associations have been established for this read-through transcript, and its clinical significance remains unclear.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring SLX1B (SLX1 structure-specific endonuclease subunit homolog B) and SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1A and SULT1A3 genes located approximately 730 kb downstream 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]

ResearchGenerating clinical summary…

Clinical Summary— SLX1B-SULT1A4

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ClinVar Variants

12 VUS of 13 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

13 submitted variants in ClinVar

ClinVar

Classification Summary

VUS12

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	12	0	12
Likely Benign	0	1	1
Benign	0	0	0
Total	12	1	13

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

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28 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap SLX1B-SULT1A4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →