BORA

protein-coding

BORA aurora kinase A activator

Gene summary

BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]

Previous symbols:

C13orf34

MANE transcript

NM_024808.5

Inheritance

—

ClinVar variants

U:70B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr13:72,727,749-72,756,198

External References & Databases

Ensembl (ENSG00000136122)

Transcript & Mutation Effects

hg38 • Region Span ~28.4 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 BORA variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 63

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024808.5. 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			2 clinvar			2
missense			67 clinvar	3 clinvar		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	70	3	0	73

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024808.5	RefSeq	NP_079084.4	11	MANE Select
ENST00000390667.11	Ensembl	ENSP00000375082.6	11	MANE Select
NM_001286746.3	RefSeq	NP_001273675.2	11	Standard
NM_001286747.2	RefSeq	NP_001273676.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Regulation of PLK1 Activity at G2/M Transition
G2/M Transition
Mitotic G2-G2/M phases
Cell Cycle
Cell Cycle, Mitotic

Biological Process

G2/M transition of mitotic cell cycle
regulation of mitotic nuclear division
regulation of protein localization
cell division
regulation of mitotic spindle organization

Molecular Function

protein binding
protein kinase binding

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000390667
Coding exons: 11
Length: 28276
Individuals with no LoFs: 115181
Homozygous LoFs: 1147
Heterozygous LoFs: 8465
Defined: 124793
p: 0.0393

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.32	227	290	0.783	0.0000141	3730
Missense (PolyPhen)		56	90.519	0.61865		1268
Synonymous	0.203	95	97.6	0.974	0.00000533	1021
Loss of Function	2.67	10	24.2	0.414	0.00000110	319

Population LoF Frequency

Population	CAF	p-value	Status
African	0.37	0.36	notable
Latino/Admixed American	0.022	0.021	notable
Ashkenazi Jewish	0.021	0.021	notable
East Asian	0.025	0.025	notable
Finnish	0.0060	0.0060	notable
European (Non-Finnish)	0.011	0.011	notable
South Asian	0.073	0.072	notable
Other	0.025	0.024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for the activation of AURKA at the onset of mitosis. {ECO:0000269|PubMed:16890155}.;

Recessive Scores

pRec: 0.121

Intolerance Scores

RVIS EVS: -0.03
RVIS percentile EVS: 51.92

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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