PELO
Basic information
Region (hg38): 5:52787916-52804044
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (43 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PELO gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015946.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 43 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 43 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PELO | protein_coding | protein_coding | ENST00000274311 | 2 | 16107 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0105 | 0.950 | 125726 | 0 | 22 | 125748 | 0.0000875 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.641 | 196 | 223 | 0.879 | 0.0000105 | 2549 |
| Missense in Polyphen | 51 | 77.582 | 0.65737 | 870 | ||
| Synonymous | 0.411 | 84 | 88.9 | 0.945 | 0.00000414 | 772 |
| Loss of Function | 1.79 | 5 | 11.6 | 0.433 | 5.35e-7 | 131 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000149 | 0.000149 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000794 | 0.0000791 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000262 | 0.000261 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential). {ECO:0000250, ECO:0000305}.;
- Pathway
- mRNA surveillance pathway - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
(Consensus)
Intolerance Scores
- loftool
- 0.472
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.75
Haploinsufficiency Scores
- pHI
- 0.366
- hipred
- Y
- hipred_score
- 0.629
- ghis
- 0.491
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pelo
- Phenotype
- growth/size/body region phenotype; cellular phenotype; embryo phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- cell cycle;endoderm development;cell population proliferation;stem cell population maintenance;positive regulation of BMP signaling pathway;ribosome disassembly;chromosome organization;cell division;mesenchymal to epithelial transition;nuclear-transcribed mRNA catabolic process, non-stop decay;nonfunctional rRNA decay;nuclear-transcribed mRNA catabolic process, no-go decay;RNA surveillance;nucleic acid phosphodiester bond hydrolysis
- Cellular component
- nucleus;cytoplasm
- Molecular function
- endonuclease activity;protein binding;ribosome binding;metal ion binding