CLBA1
protein-codingclathrin binding box of aftiphilin containing 1
Gene summary
Predicted to enable clathrin binding activity. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jun 2026]
- C14orf79
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CLBA1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_174891.4. 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 | 0 | |||||
| missense | 5 | 1 | 6 | |||
| nonsense | 0 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 6 | 1 | 0 | 7 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_777551.2 | 5 | MANE Select | |
| Ensembl | ENSP00000450114.1 | 5 | MANE Select | |
| RefSeq | NP_001351099.1 | 5 | Standard | |
| Ensembl | ENSP00000374614.3 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- intracellular transport
Molecular Function
- protein transporter activity
- clathrin binding
Cellular Component
- cell
- cytoplasm
- AP-1 adaptor complex
- trans-Golgi network membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000547315
- Coding exons
- 5
- Length
- 24708
- Individuals with no LoFs
- 124752
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 39
- Defined
- 124791
- p
- 0.000156
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.534 | 213 | 192 | 1.11 | 0.0000112 | 2115 |
| Missense (PolyPhen) | 36 | 31.304 | 1.15 | 409 | ||
| Synonymous | 0.225 | 72 | 74.5 | 0.967 | 0.00000464 | 651 |
| Loss of Function | -0.562 | 16 | 13.8 | 1.16 | 7.27e-7 | 145 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0.000060 | 0.000058 | rare |
| Ashkenazi Jewish | 0.0019 | 0.0019 | notable |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000054 | 0.000053 | rare |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- -0.16
- RVIS percentile EVS
- 42.16
Essentials
- Essential (gene trap)
- N