PRR5-ARHGAP8

Chr 22

PRR5-ARHGAP8 readthrough

The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.62
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?
1.62LOEUF
pLI 0.000
Z-score -1.22
OE 1.24 (0.951.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.86Z-score
OE missense 1.55 (1.451.65)
613 obs / 396.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.24 (0.951.62)
00.351.4
Missense OE?1.55 (1.451.65)
00.61.4
Synonymous OE?1.46
01.21.6
LoF obs/exp: 38 / 30.7Missense obs/exp: 613 / 396.5Syn Z: -4.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRR5-ARHGAP8 · 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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