PELI3

pellino E3 ubiquitin protein ligase family member 3, the group of Pellino E3 ubiquitin protein ligases

Basic information

Region (hg38): 11:66466327-66477337

Links

ENSG00000174516 ∙ NCBI:246330 ∙ OMIM:609827 ∙ HGNC:30010 ∙ Uniprot:Q8N2H9 ∙ 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 PELI3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PELI3 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	0

Variants in PELI3

This is a list of pathogenic ClinVar variants found in the PELI3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66468160-C-T		not specified	Uncertain significance (Aug 09, 2021)
11-66468219-C-G		not specified	Uncertain significance (Feb 16, 2023)
11-66468222-G-A		not specified	Uncertain significance (Mar 29, 2023)
11-66468228-G-A		not specified	Uncertain significance (May 30, 2024)
11-66471280-G-A		not specified	Uncertain significance (Apr 08, 2022)
11-66472375-A-C		not specified	Uncertain significance (Jun 11, 2021)
11-66472424-C-T		not specified	Uncertain significance (Aug 17, 2022)
11-66472453-G-A		not specified	Uncertain significance (Sep 28, 2022)
11-66473248-G-A		not specified	Uncertain significance (Jun 13, 2024)
11-66473287-C-T		not specified	Uncertain significance (Nov 19, 2022)
11-66473290-C-G		not specified	Uncertain significance (May 05, 2023)
11-66473307-G-A		not specified	Uncertain significance (Aug 30, 2022)
11-66473310-G-A		not specified	Uncertain significance (Nov 21, 2022)
11-66473371-G-A		not specified	Uncertain significance (Apr 27, 2023)
11-66473380-A-G		not specified	Uncertain significance (Jun 01, 2023)
11-66473855-G-A		not specified	Uncertain significance (Apr 24, 2024)
11-66473870-G-T		not specified	Uncertain significance (Aug 31, 2022)
11-66473915-G-A		not specified	Uncertain significance (Jun 05, 2024)
11-66475667-C-T		not specified	Uncertain significance (Dec 30, 2023)
11-66475722-G-A		not specified	Uncertain significance (Jan 02, 2024)
11-66475806-C-T		not specified	Uncertain significance (Mar 01, 2024)
11-66475815-A-T		not specified	Uncertain significance (Jun 11, 2021)
11-66475905-A-T		not specified	Uncertain significance (Jan 20, 2023)
11-66476153-G-C		not specified	Uncertain significance (Jun 28, 2023)
11-66476157-C-T		not specified	Uncertain significance (Aug 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PELI3	protein_coding	protein_coding	ENST00000320740	7	10593

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00949	0.988	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	200	323	0.620	0.0000226	2968
Missense in Polyphen		107	184.25	0.58074		1722
Synonymous	0.769	132	144	0.918	0.0000106	1023
Loss of Function	2.69	7	20.0	0.350	0.00000110	203

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000585	0.0000585
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000228	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000566	0.0000527
Middle Eastern	0.000228	0.000217
South Asian	0.000372	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation. {ECO:0000269|PubMed:12874243, ECO:0000269|PubMed:17675297}.
• Pathway: Regulation of toll-like receptor signaling pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;Signaling by Interleukins;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Interleukin-1 signaling;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Innate Immune System;Immune System;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;Toll Like Receptor 4 (TLR4) Cascade;IRAK1 recruits IKK complex;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.525
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.322
• hipred: Y
• hipred_score: 0.568
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.675

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Peli3
• Phenotype: immune system phenotype; hematopoietic system 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); cellular phenotype

Gene ontology

• Biological process: protein polyubiquitination;protein phosphorylation;Toll signaling pathway;negative regulation of tumor necrosis factor-mediated signaling pathway;interleukin-1-mediated signaling pathway;protein K63-linked ubiquitination;negative regulation of extrinsic apoptotic signaling pathway
• Cellular component: cytosol
• Molecular function: protein serine/threonine kinase activity;protein binding;ubiquitin protein ligase activity