CIBAR1
protein-codingCBY1 interacting BAR domain containing 1
Gene summary
Enables phospholipid binding activity. Involved in several processes, including inner mitochondrial membrane organization; limb morphogenesis; and membrane tubulation. Located in several cellular components, including centriole; ciliary base; and mitochondrial crista. [provided by Alliance of Genome Resources, Jul 2025]
- FAM92A1
- FAM92A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~33.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0032603
Submitter: Ambry Genetics
Inheritance Pattern: AR
Disease ID:MONDO:0019673
Submitter: Orphanet
Inheritance Pattern: AR
Disease ID:MONDO:0032603
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Musculoskeletal
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CIBAR1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_145269.5. 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 | 1 | 2 | 3 | |||
| missense | 1 | 35 | 2 | 38 | ||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 2 | 2 | 36 | 4 | 0 | 44 |
Highest pathogenic variant AF is 0.0000080597465
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_660312.2 | 9 | MANE Select | |
| Ensembl | ENSP00000429367.1 | 9 | MANE Select | |
| RefSeq | NP_001269963.1 | 8 | Standard | |
| Ensembl | ENSP00000352391.5 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cilium assembly
Molecular Function
- protein binding
Cellular Component
- nucleus
- cytoplasm
- centriole
- ciliary basal body
- ciliary base
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000518322
- Coding exons
- 9
- Length
- 32967
- Individuals with no LoFs
- 124600
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 38
- Defined
- 124638
- p
- 0.000152
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.967 | 113 | 146 | 0.775 | 0.00000767 | 1858 |
| Missense (PolyPhen) | 27 | 39.889 | 0.67689 | 565 | ||
| Synonymous | 0.484 | 48 | 52.5 | 0.915 | 0.00000276 | 532 |
| Loss of Function | 1.21 | 14 | 19.8 | 0.707 | 0.00000133 | 217 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000065 | rare |
| Latino/Admixed American | 0.000063 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00017 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00017 | 0.00017 | rare |
| South Asian | 0.00041 | 0.00039 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in ciliogenesis (PubMed:27528616). 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:0000269|PubMed:27528616}.;
Recessive Scores
- pRec
- 0.0900
Intolerance Scores
- RVIS EVS
- 0.33
- RVIS percentile EVS
- 73.11
Essentials
- Essential (gene trap)
- N