HSPE1-MOB4

Chr 2

HSPE1-MOB4 readthrough

Also known as: HSPE1-PHOCN

This locus represents naturally occurring read-through transcription between the neighboring HSPE1 (heat shock 10kDa protein 1 (chaperonin 10)) and MOB4 (MOB family member 4, phocein) genes on chromosome 2. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]

Research

ResearchGenerating clinical summary…

LOEUF 0.31

Clinical Summary— HSPE1-MOB4

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

11 VUS of 14 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.31LOEUF

pLI 0.971

Z-score 3.39

OE 0.07 (0.02–0.31)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.77Z-score

OE missense 0.32 (0.25–0.41)

42 obs / 131.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.07 (0.02–0.31)

0≤0.351.4

Missense OE?0.32 (0.25–0.41)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 1 / 15.3Missense obs/exp: 42 / 131.3Syn Z: -0.20

ClinVar Variant Classifications

14 submitted variants in ClinVar

ClinVar

Classification Summary

VUS11

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	11	0	11
Likely Benign	0	1	1
Benign	0	0	0
Total	11	1	12

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap HSPE1-MOB4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →