RIBC2

RIB43A domain with coiled-coils 2

Basic information

Region (hg38): 22:45413693-45432509

Previous symbols: [ "C22orf11" ]

Links

ENSG00000128408 ∙ NCBI:26150 ∙ ∙ HGNC:13241 ∙ Uniprot:Q9H4K1 ∙ 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 RIBC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIBC2 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				1		1
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	7	1	1

Variants in RIBC2

This is a list of pathogenic ClinVar variants found in the RIBC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-45413743-C-A			Benign (Jul 15, 2020)
22-45413909-T-C		not specified	Uncertain significance (Jul 07, 2022)
22-45413942-A-C		not specified	Uncertain significance (Jul 06, 2021)
22-45414328-A-C		not specified	Uncertain significance (Mar 24, 2023)
22-45414367-A-G		not specified	Uncertain significance (Jan 23, 2023)
22-45417619-A-G		not specified	Uncertain significance (Jan 04, 2022)
22-45417688-A-G		not specified	Uncertain significance (Sep 22, 2023)
22-45426037-C-T			Likely benign (Aug 01, 2022)
22-45430979-T-A		not specified	Uncertain significance (Dec 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIBC2	protein_coding	protein_coding	ENST00000538017	7	18805

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-12	0.0345	125638	0	110	125748	0.000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.373	199	214	0.928	0.0000126	2493
Missense in Polyphen		57	64.768	0.88006		721
Synonymous	0.626	73	80.1	0.911	0.00000449	666
Loss of Function	0.0165	18	18.1	0.996	8.40e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00129	0.000766
Ashkenazi Jewish	0.00	0.00
East Asian	0.00144	0.00136
Finnish	0.000248	0.000231
European (Non-Finnish)	0.000473	0.000422
Middle Eastern	0.00144	0.00136
South Asian	0.000529	0.000490
Other	0.000345	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.187
• ghis: 0.386

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0897

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ribc2

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding