YAE1
protein-codingYAE1 maturation factor of ABCE1
Gene summary
Involved in protein maturation. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]
- C7orf36
- YAE1D1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~43.9 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 YAE1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020192.5. 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 | 0 | |||||
| missense | 31 | 1 | 1 | 33 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 32 | 1 | 1 | 34 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_064577.1 | 3 | MANE Select | |
| Ensembl | ENSP00000223273.2 | 3 | MANE Select | |
| RefSeq | NP_001269375.1 | 3 | Standard | |
| Ensembl | ENSP00000395777.2 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- translational initiation
- ribosomal large subunit biogenesis
- protein maturation by [4Fe-4S] cluster transfer
Cellular Component
- nucleus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000223273
- Coding exons
- 3
- Length
- 43945
- Individuals with no LoFs
- 125715
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 32
- Defined
- 125747
- p
- 0.000127
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.288 | 107 | 116 | 0.925 | 0.00000513 | 1480 |
| Missense (PolyPhen) | 33 | 34.453 | 0.95782 | 437 | ||
| Synonymous | 0.442 | 41 | 44.8 | 0.916 | 0.00000206 | 420 |
| Loss of Function | 1.38 | 6 | 10.9 | 0.549 | 6.54e-7 | 120 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00016 | 0.00014 | rare |
| Ashkenazi Jewish | 0.00021 | 0.00020 | rare |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00016 | 0.00015 | rare |
| South Asian | 0.00014 | 0.00013 | rare |
| Other | 0.00034 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron- sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403). {ECO:0000269|PubMed:26182403}.;
Recessive Scores
- pRec
- 0.0964
Intolerance Scores
- RVIS EVS
- 0.28
- RVIS percentile EVS
- 71.27
Essentials
- Essential (gene trap)
- E