PELO

pelota mRNA surveillance and ribosome rescue factor

Basic information

Region (hg38): 5:52787915-52804044

Links

ENSG00000152684 ∙ NCBI:53918 ∙ OMIM:605757 ∙ HGNC:8829 ∙ Uniprot:Q9BRX2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PELO gene.

• Inborn genetic diseases (16 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	16	0	0

Variants in PELO

This is a list of pathogenic ClinVar variants found in the PELO region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-52788369-C-A		not specified	Uncertain significance (Aug 28, 2023)
5-52788402-T-C		not specified	Uncertain significance (Jul 20, 2022)
5-52800432-C-T		not specified	Uncertain significance (Mar 01, 2023)
5-52800570-A-G		not specified	Uncertain significance (Dec 01, 2022)
5-52800576-T-C		not specified	Uncertain significance (Apr 27, 2023)
5-52800812-G-C		not specified	Uncertain significance (Aug 17, 2022)
5-52800902-A-C		not specified	Uncertain significance (Aug 08, 2022)
5-52800915-A-C		not specified	Uncertain significance (Dec 15, 2023)
5-52800969-C-A		not specified	Uncertain significance (Feb 15, 2023)
5-52800971-A-G		not specified	Uncertain significance (Jun 21, 2022)
5-52801476-G-T		not specified	Uncertain significance (Jan 23, 2023)
5-52801510-A-T		not specified	Uncertain significance (Sep 06, 2022)
5-52801525-C-G		not specified	Uncertain significance (Jan 31, 2024)
5-52801532-A-G		not specified	Uncertain significance (Aug 30, 2022)
5-52801594-A-C		not specified	Uncertain significance (Apr 12, 2023)
5-52801668-A-G		not specified	Uncertain significance (Jan 11, 2023)
5-52801679-G-C		not specified	Uncertain significance (Jun 17, 2022)
5-52801709-G-C		not specified	Uncertain significance (Nov 21, 2023)
5-52801763-G-A		not specified	Uncertain significance (Jul 26, 2022)
5-52801835-G-C		not specified	Uncertain significance (May 15, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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