CIBAR2

CBY1 interacting BAR domain containing 2

Basic information

Region (hg38): 16:85098358-85112472

Previous symbols: [ "FAM92B" ]

Links

ENSG00000153789 ∙ NCBI:339145 ∙ OMIM:617274 ∙ HGNC:24781 ∙ Uniprot:Q6ZTR7 ∙ 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 CIBAR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIBAR2 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			44	2		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	2	0

Variants in CIBAR2

This is a list of pathogenic ClinVar variants found in the CIBAR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-85099192-G-C		not specified	Uncertain significance (Oct 29, 2021)
16-85099195-T-C		not specified	Uncertain significance (Apr 07, 2023)
16-85099220-C-T		not specified	Uncertain significance (Jun 16, 2023)
16-85099298-G-T		not specified	Uncertain significance (Nov 01, 2022)
16-85099318-G-T		not specified	Uncertain significance (May 24, 2023)
16-85099319-C-A		not specified	Uncertain significance (Oct 05, 2023)
16-85099343-T-C		not specified	Uncertain significance (Jan 10, 2023)
16-85100147-C-T		not specified	Uncertain significance (Nov 03, 2022)
16-85100156-G-A		CIBAR2-related disorder	Likely benign (Sep 14, 2023)
16-85100179-G-C		CIBAR2-related disorder	Benign (Feb 01, 2021)
16-85100221-T-A		not specified	Uncertain significance (Feb 06, 2023)
16-85102230-A-G		not specified	Uncertain significance (Oct 07, 2024)
16-85102232-G-C		CIBAR2-related disorder	Likely benign (Feb 04, 2022)
16-85102240-T-C		not specified	Uncertain significance (Feb 07, 2023)
16-85102245-A-C		not specified	Uncertain significance (Dec 06, 2023)
16-85102258-C-T		not specified	Uncertain significance (Mar 20, 2024)
16-85102294-C-A		not specified	Uncertain significance (Jun 21, 2023)
16-85102303-T-C		not specified	Uncertain significance (Apr 12, 2022)
16-85102326-T-C		not specified	Likely benign (Sep 30, 2021)
16-85105391-C-T		not specified	Uncertain significance (Oct 13, 2023)
16-85107856-T-G		not specified	Uncertain significance (Nov 27, 2023)
16-85107857-G-C		not specified	Uncertain significance (Dec 04, 2024)
16-85107862-G-A		not specified	Uncertain significance (Aug 12, 2021)
16-85107883-T-C		not specified	Uncertain significance (Jul 06, 2024)
16-85107898-A-C		not specified	Uncertain significance (Jul 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIBAR2	protein_coding	protein_coding	ENST00000539556	9	14150

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.77e-10	0.113	125659	0	88	125747	0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.54	232	175	1.33	0.00000992	1989
Missense in Polyphen		72	50.648	1.4216		588
Synonymous	-1.94	93	72.0	1.29	0.00000449	566
Loss of Function	0.262	15	16.1	0.930	7.85e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00112	0.00112
Ashkenazi Jewish	0.00	0.00
East Asian	0.000618	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000279	0.000273
Middle Eastern	0.000618	0.000598
South Asian	0.000623	0.000621
Other	0.000334	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616). {ECO:0000250|UniProtKB:A1XBS5, ECO:0000269|PubMed:27528616}.

Recessive Scores

• pRec: 0.0919

Intolerance Scores

• loftool: 0.911
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.0734
• hipred: N
• hipred_score: 0.144
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0382

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam92b

Gene ontology

• Biological process: cell projection organization
• Cellular component: centriole;cell projection
• Molecular function: protein binding