AUNIP

Chr 1

aurora kinase A and ninein interacting protein

Also known as: AIBP, C1orf135

The AUNIP protein binds damaged DNA and promotes homologous recombination repair while inhibiting non-homologous end joining, and is also required for proper spindle organization during cell division. The gene shows minimal constraint against loss-of-function variants (pLI near 0, LOEUF 1.58), suggesting that heterozygous loss-of-function may be tolerated. Disease associations and inheritance patterns for AUNIP mutations have not been established in the provided data.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.58
Clinical SummaryAUNIP
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
5 unique Pathogenic / Likely Pathogenic· 59 VUS of 72 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.58LOEUF
pLI 0.000
Z-score -0.01
OE 1.00 (0.651.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.30Z-score
OE missense 0.94 (0.821.07)
166 obs / 177.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.00 (0.651.58)
00.351.4
Missense OE0.94 (0.821.07)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 13 / 13.0Missense obs/exp: 166 / 177.2Syn Z: 0.19

ClinVar Variant Classifications

72 submitted variants in ClinVar

Classification Summary

Pathogenic5
VUS59
Likely Benign2
5
Pathogenic
59
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
0
53
6
0
59
Likely Benign
1
1
0
0
2
Benign
0
0
0
0
0
Total15411066

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AUNIP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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