ARPIN-AP3S2

Chr 15

ARPIN-AP3S2 readthrough

Also known as: C15orf38-AP3S2

This read-through transcript produces a fusion protein combining sequences from C15orf38 and AP3S2 (adaptor-related protein complex 3 sigma 2 subunit), where AP3S2 normally functions in intracellular vesicle trafficking and protein sorting. The gene shows extremely low constraint against loss-of-function variants, and no specific disease associations have been established for mutations in this fusion transcript. The clinical significance of variants in this read-through transcript remains unclear.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

LOEUF 1.34

Clinical Summary— ARPIN-AP3S2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

79 VUS of 80 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.34LOEUF

pLI 0.000

Z-score 0.41

OE 0.90 (0.62–1.34)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.15Z-score

OE missense 0.97 (0.87–1.08)

231 obs / 237.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.90 (0.62–1.34)

0≤0.351.4

Missense OE?0.97 (0.87–1.08)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 18 / 20.0Missense obs/exp: 231 / 237.6Syn Z: -0.48

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

VUS79

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	1	78	79
Likely Benign	0	1	1
Benign	0	0	0
Total	1	79	80

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

View in ClinVar →

39 pathogenic / likely-pathogenic (of 49) ClinVar copy-number / structural variants overlap ARPIN-AP3S2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →