SERPINB13

Chr 18

serpin family B member 13

Also known as: HSHUR7SEQ, HUR7, PI13, headpin

The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted
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?
1.15LOEUF
pLI 0.000
Z-score 1.14
OE 0.68 (0.421.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.54Z-score
OE missense 1.10 (0.991.23)
235 obs / 212.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.421.15)
00.351.4
Missense OE?1.10 (0.991.23)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 10 / 14.7Missense obs/exp: 235 / 212.8Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SERPINB13 · 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.

Search ClinicalTrials.gov →