ASB13

Chr 10

ankyrin repeat and SOCS box containing 13

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.78
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?
1.78LOEUF
pLI 0.000
Z-score -0.53
OE 1.17 (0.761.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.15Z-score
OE missense 0.97 (0.851.10)
171 obs / 176.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.17 (0.761.78)
00.351.4
Missense OE?0.97 (0.851.10)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 13 / 11.1Missense obs/exp: 171 / 176.6Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ASB13 · 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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