PMF1-BGLAP

Chr 1

PMF1-BGLAP readthrough

This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.44
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.000
Z-score 0.33
OE 0.91 (0.591.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.09 (0.951.25)
140 obs / 128.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.591.44)
00.351.4
Missense OE?1.09 (0.951.25)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 13 / 14.3Missense obs/exp: 140 / 128.9Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PMF1-BGLAP · 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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