LEXM
Genelymphocyte expansion molecule
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- C1orf177
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC 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 LEXM variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 1 | ||||
| missense | 37 | 1 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 37 | 2 | 0 | 39 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- mitochondrion
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000371273
- Coding exons
- 10
- Length
- 36190
- Individuals with no LoFs
- 123466
- Homozygous LoFs
- 25
- Heterozygous LoFs
- 2257
- Defined
- 125748
- p
- 0.00912
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.197 | 228 | 237 | 0.964 | 0.0000142 | 2701 |
| Missense (PolyPhen) | 90 | 79.449 | 1.1328 | 904 | ||
| Synonymous | 0.693 | 80 | 88.3 | 0.906 | 0.00000498 | 800 |
| Loss of Function | 0.486 | 21 | 23.5 | 0.892 | 0.00000141 | 254 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0033 | 0.0031 | notable |
| Latino/Admixed American | 0.0043 | 0.0033 | notable |
| Ashkenazi Jewish | 0.0034 | 0.0028 | notable |
| East Asian | 0.00034 | 0.00033 | rare |
| Finnish | 0.0094 | 0.0090 | notable |
| European (Non-Finnish) | 0.011 | 0.010 | notable |
| South Asian | 0.029 | 0.023 | notable |
| Other | 0.011 | 0.0092 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0859
Intolerance Scores
- RVIS EVS
- 1.8
- RVIS percentile EVS
- 96.92
Essentials
- Essential (gene trap)
- N