AUNIP

protein-coding

aurora kinase A and ninein interacting protein

Gene summary

Enables damaged DNA binding activity. Involved in double-strand break repair via homologous recombination; negative regulation of double-strand break repair via nonhomologous end joining; and spindle organization. Located in centrosome; site of DNA damage; and spindle pole. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf135

MANE transcript

NM_024037.3

Inheritance

—

ClinVar variants

U:50B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr1:25,831,913-25,859,458

External References & Databases

Ensembl (ENSG00000127423)

Transcript & Mutation Effects

hg38 • Region Span ~27.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AUNIP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024037.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			47 clinvar	1 clinvar		48
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	50	2	0	52

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024037.3	RefSeq	NP_076942.1	3	MANE Select
ENST00000374298.4	Ensembl	ENSP00000363416.4	3	MANE Select
NM_001287490.2	RefSeq	NP_001274419.1	4	Standard
ENST00000538789.5	Ensembl	ENSP00000443647.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

double-strand break repair via homologous recombination
spindle organization
negative regulation of double-strand break repair via nonhomologous end joining

Molecular Function

damaged DNA binding
protein binding

Cellular Component

spindle pole
nucleus
cytoplasm
centrosome
site of DNA damage

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374298
Coding exons: 3
Length: 27490
Individuals with no LoFs: 124542
Homozygous LoFs: 3
Heterozygous LoFs: 1203
Defined: 125748
p: 0.00481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.299	166	177	0.937	0.00000845	2360
Missense (PolyPhen)		33	42.839	0.77032		548
Synonymous	0.188	65	67.0	0.971	0.00000320	672
Loss of Function	-0.00518	13	13.0	1.00	6.46e-7	162

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0020	0.0020	notable
Latino/Admixed American	0.0036	0.0036	notable
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0	0.0	absent
Finnish	0.0072	0.0072	notable
European (Non-Finnish)	0.0068	0.0068	notable
South Asian	0.0027	0.0027	notable
Other	0.0060	0.0059	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: DNA-binding protein that accumulates at DNA double- strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination (PubMed:29042561). Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair (PubMed:29042561). Inhibits non-homologous end joining (NHEJ) (PubMed:29042561). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus during the cell cycle (PubMed:20596670). {ECO:0000269|PubMed:20596670, ECO:0000269|PubMed:29042561}.;

Intolerance Scores

RVIS EVS: 0.28
RVIS percentile EVS: 71.41

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium