RBFA

ribosome binding factor A

Basic information

Region (hg38): 18:80034389-80050651

Previous symbols: [ "C18orf22" ]

Links

ENSG00000101546 ∙ NCBI:79863 ∙ ∙ HGNC:26120 ∙ Uniprot:Q8N0V3 ∙ 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 RBFA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBFA 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			29	9		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	9	0

Variants in RBFA

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

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

Position	Type	Phenotype	Significance	ClinVar
18-80034501-G-C		not specified	Uncertain significance (Dec 16, 2022)
18-80034529-C-T		not specified	Uncertain significance (Jan 17, 2024)
18-80034541-C-T		not specified	Uncertain significance (Jul 27, 2021)
18-80034593-G-A		not specified	Uncertain significance (Aug 05, 2024)
18-80036675-G-A		not specified	Uncertain significance (Jul 15, 2021)
18-80036697-T-C		not specified	Uncertain significance (Jul 14, 2024)
18-80036709-C-T		not specified	Likely benign (Feb 28, 2024)
18-80037340-C-T		not specified	Uncertain significance (Feb 26, 2025)
18-80037400-C-T		not specified	Likely benign (Nov 10, 2022)
18-80037402-C-T		not specified	Uncertain significance (Dec 16, 2021)
18-80037430-A-G		not specified	Uncertain significance (Jan 01, 2025)
18-80037472-A-G		not specified	Uncertain significance (Jan 29, 2024)
18-80037476-G-C		not specified	Uncertain significance (Feb 14, 2025)
18-80037495-G-C		not specified	Uncertain significance (Aug 26, 2024)
18-80038544-T-C		not specified	Uncertain significance (Feb 07, 2025)
18-80038554-C-A		not specified	Uncertain significance (Nov 21, 2022)
18-80038572-A-G		not specified	Uncertain significance (Mar 08, 2025)
18-80038607-G-A		not specified	Uncertain significance (Nov 08, 2024)
18-80038608-C-T		not specified	Uncertain significance (Nov 25, 2024)
18-80038613-A-C		not specified	Uncertain significance (Nov 22, 2021)
18-80044215-G-A		not specified	Uncertain significance (Dec 15, 2023)
18-80044233-G-A		not specified	Uncertain significance (Jan 31, 2025)
18-80044246-C-T		not specified	Uncertain significance (Dec 21, 2022)
18-80044261-A-G		not specified	Uncertain significance (Apr 01, 2024)
18-80045787-C-A		not specified	Uncertain significance (Jul 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBFA	protein_coding	protein_coding	ENST00000306735	7	12040

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000951	0.809	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.381	212	197	1.08	0.0000107	2216
Missense in Polyphen		42	42.807	0.98115		571
Synonymous	0.00864	89	89.1	0.999	0.00000552	678
Loss of Function	1.21	8	12.6	0.633	6.22e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000367	0.000362
Ashkenazi Jewish	0.00	0.00
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000793	0.0000791
Middle Eastern	0.000219	0.000217
South Asian	0.0000335	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.55
• rvis_percentile_EVS: 95.64

Haploinsufficiency Scores

• pHI: 0.0777
• hipred: N
• hipred_score: 0.123
• ghis: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbfa

Gene ontology

• Biological process: rRNA processing;biological_process
• Cellular component: cellular_component;mitochondrion
• Molecular function: molecular_function;protein binding