BORA

BORA aurora kinase A activator

Basic information

Region (hg38): 13:72727748-72756198

Previous symbols: [ "C13orf34" ]

Links

ENSG00000136122 ∙ NCBI:79866 ∙ OMIM:610510 ∙ HGNC:24724 ∙ Uniprot:Q6PGQ7 ∙ 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 BORA gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORA 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			21	2		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	0

Variants in BORA

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

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

Position	Type	Phenotype	Significance	ClinVar
13-72729059-C-T		not specified	Uncertain significance (Jan 06, 2023)
13-72731309-A-G		not specified	Uncertain significance (Feb 27, 2024)
13-72731320-G-A		not specified	Uncertain significance (Nov 04, 2023)
13-72731360-G-A		not specified	Uncertain significance (Sep 27, 2022)
13-72731372-A-T		not specified	Uncertain significance (Jul 08, 2022)
13-72731381-A-G		not specified	Uncertain significance (Oct 02, 2023)
13-72738029-G-A		not specified	Likely benign (Jan 26, 2022)
13-72745172-G-C		not specified	Uncertain significance (Jan 09, 2024)
13-72745978-C-T		not specified	Uncertain significance (Aug 10, 2021)
13-72746047-A-T		not specified	Uncertain significance (Apr 01, 2022)
13-72746073-T-C		not specified	Uncertain significance (May 09, 2023)
13-72746504-A-G		not specified	Uncertain significance (Jan 18, 2022)
13-72746531-A-G		not specified	Uncertain significance (Apr 25, 2022)
13-72746578-A-G		not specified	Uncertain significance (Mar 06, 2023)
13-72746617-T-C		not specified	Uncertain significance (Jan 05, 2022)
13-72746623-C-A		not specified	Uncertain significance (Jan 17, 2023)
13-72746626-A-G		not specified	Uncertain significance (May 09, 2023)
13-72746639-T-C		not specified	Uncertain significance (Sep 30, 2021)
13-72746690-C-T		not specified	Uncertain significance (Jan 19, 2024)
13-72746735-C-T		not specified	Uncertain significance (Feb 17, 2024)
13-72746764-G-A		not specified	Uncertain significance (May 09, 2023)
13-72746764-G-T		not specified	Uncertain significance (Oct 30, 2023)
13-72746834-C-G		not specified	Uncertain significance (Jan 08, 2024)
13-72746942-C-T		not specified	Uncertain significance (Feb 16, 2023)
13-72746951-T-C		not specified	Likely benign (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BORA	protein_coding	protein_coding	ENST00000390667	11	28276

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000326	0.997	115181	1147	8465	124793	0.0393

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	227	290	0.783	0.0000141	3730
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.390	0.384
Ashkenazi Jewish	0.0211	0.0211
East Asian	0.0248	0.0246
Finnish	0.00604	0.00600
European (Non-Finnish)	0.0113	0.0111
Middle Eastern	0.0248	0.0246
South Asian	0.0730	0.0717
Other	0.0252	0.0244

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the activation of AURKA at the onset of mitosis. {ECO:0000269|PubMed:16890155}.
• Pathway: Regulation of PLK1 Activity at G2/M Transition;G2/M Transition;Mitotic G2-G2/M phases;Cell Cycle;Cell Cycle, Mitotic;PLK1 signaling events (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.250
• hipred: Y
• hipred_score: 0.661
• ghis: 0.632

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bora

Gene ontology

• 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
• Cellular component: cytosol
• Molecular function: protein binding;protein kinase binding