BIRC7

Chr 20

baculoviral IAP repeat containing 7

Also known as: KIAP, LIVIN, ML-IAP, MLIAP, RNF50

This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.34
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.60
OE 0.83 (0.531.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.891.13)
191 obs / 190.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.531.34)
00.351.4
Missense OE?1.00 (0.891.13)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 12 / 14.5Missense obs/exp: 191 / 190.6Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BIRC7 · 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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