AURKAIP1

aurora kinase A interacting protein 1

Basic information

Region (hg38): 1:1373730-1375207

Links

ENSG00000175756 ∙ NCBI:54998 ∙ OMIM:609183 ∙ HGNC:24114 ∙ Uniprot:Q9NWT8 ∙ 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 AURKAIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AURKAIP1 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in AURKAIP1

This is a list of pathogenic ClinVar variants found in the AURKAIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-1373822-C-A		not specified	Likely benign (Apr 11, 2023)
1-1373827-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-1373864-C-G		not specified	Uncertain significance (Jan 03, 2022)
1-1373873-G-C		not specified	Uncertain significance (Sep 14, 2022)
1-1374091-C-T		not specified	Uncertain significance (May 26, 2023)
1-1374156-C-G		not specified	Uncertain significance (Oct 03, 2022)
1-1374181-C-G		not specified	Uncertain significance (Dec 21, 2022)
1-1374211-G-A		not specified	Uncertain significance (Apr 29, 2024)
1-1374266-G-A		not specified	Uncertain significance (Feb 17, 2024)
1-1374327-C-A		not specified	Uncertain significance (Oct 26, 2021)
1-1374332-C-A		not specified	Uncertain significance (Jul 25, 2023)
1-1374397-C-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AURKAIP1	protein_coding	protein_coding	ENST00000338370	3	1766

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000997	0.367	125711	0	20	125731	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0291	126	125	1.01	0.00000858	1234
Missense in Polyphen		35	36.806	0.95094		373
Synonymous	-1.48	71	56.8	1.25	0.00000376	434
Loss of Function	0.0202	6	6.05	0.991	2.57e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000472	0.0000463
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation.
• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Aurora A signaling;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0987

Intolerance Scores

• loftool: 0.788
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.0607
• hipred: Y
• hipred_score: 0.642
• ghis: 0.525

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.852

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aurkaip1

Gene ontology

• Biological process: mRNA processing;negative regulation of mitotic nuclear division;positive regulation of proteolysis;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: nucleus;nucleoplasm;mitochondrion;mitochondrial inner membrane;ribosome;intracellular membrane-bounded organelle
• Molecular function: protein binding