AUNIP

aurora kinase A and ninein interacting protein

Basic information

Region (hg38): 1:25831913-25859458

Previous symbols: [ "C1orf135" ]

Links

ENSG00000127423 ∙ NCBI:79000 ∙ ∙ HGNC:28363 ∙ Uniprot:Q9H7T9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AUNIP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AUNIP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in AUNIP

This is a list of pathogenic ClinVar variants found in the AUNIP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-25831956-T-C		not specified	Uncertain significance (May 21, 2024)
1-25835029-G-C		not specified	Uncertain significance (May 09, 2023)
1-25835090-G-A		not specified	Uncertain significance (Oct 06, 2022)
1-25835112-G-T		not specified	Uncertain significance (May 16, 2023)
1-25835214-T-G		not specified	Uncertain significance (Feb 27, 2024)
1-25835277-GTTTCACTGAT-G			Likely benign (Mar 29, 2018)
1-25835300-C-T		not specified	Uncertain significance (Oct 12, 2022)
1-25835309-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-25835414-G-A		not specified	Uncertain significance (May 20, 2024)
1-25835525-C-T		not specified	Uncertain significance (Dec 20, 2021)
1-25835667-G-T		not specified	Uncertain significance (Dec 07, 2023)
1-25835834-C-T		not specified	Uncertain significance (Nov 18, 2022)
1-25837431-A-T		not specified	Uncertain significance (Jun 03, 2022)
1-25837487-T-C		not specified	Uncertain significance (Feb 06, 2023)
1-25837490-A-G		not specified	Uncertain significance (Dec 21, 2021)
1-25859288-T-G		not specified	Uncertain significance (Aug 28, 2023)
1-25859344-C-A		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AUNIP	protein_coding	protein_coding	ENST00000374298	3	27490

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.45e-9	0.0983	124542	3	1203	125748	0.00481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.299	166	177	0.937	0.00000845	2360
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00562	0.00562
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00	0.00
Finnish	0.00721	0.00719
European (Non-Finnish)	0.00681	0.00681
Middle Eastern	0.00	0.00
South Asian	0.00274	0.00275
Other	0.00605	0.00588

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.246
• hipred: N
• hipred_score: 0.123
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aunip

Gene ontology

• Biological process: double-strand break repair via homologous recombination;spindle organization;negative regulation of double-strand break repair via nonhomologous end joining
• Cellular component: spindle pole;nucleus;cytoplasm;centrosome;site of DNA damage
• Molecular function: damaged DNA binding;protein binding