Hs04610434_cn

• Gene Symbol: PELI1
• Assay Reference Genome Location: Chr.2:64101634 on build GRCh38
• Cytoband: 2p14

Target Gene Details

• Entrez Gene ID: 57162
• Gene Name: pellino E3 ubiquitin protein ligase 1
• Gene Aliases: -
• Location: Chr.2:64092652-64144471 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PELI1	NM_020651.3			NP_065702.2
	XM_005264437.3			XP_005264494.1
	XM_011532994.2			XP_011531296.1
	XM_011532996.2			XP_011531298.1
	XM_011532997.2			XP_011531299.1
	XM_017004520.1			XP_016860009.1
	XM_017004521.1			XP_016860010.1
	AF300987.1			AAG17451.1
	AF302505.1			AAG15393.1
	AJ278859.1			CAC04320.1
	AK312441.1
	AY364257.1			AAQ76816.1
	BC050019.1			AAH50019.1
	BC063611.1			AAH63611.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv151e55	Chr.2:64085008 - 64294232 on Build GRCh38	Gain	LINC00309 PELI1 LOC100507006
nsv582127	Chr.2:63618350 - 64923736 on Build GRCh38	Gain	UGP2 LOC101927402 LINC00309 MIR4433B LOC105374768 LGALSL MIR4434 LOC339807 VPS54 AFTPH LOC101927438 LOC647115 MIR4433A LOC400958 PELI1 WDPCP LOC100507006 SERTAD2
nsv1013132	Chr.2:64008041 - 64403950 on Build GRCh38	Loss	LINC00309 MIR4433B MIR4433A LOC105374768 PELI1 LOC100507006 VPS54
nsv834243	Chr.2:64089380 - 64249801 on Build GRCh38	Gain+Loss	LINC00309 PELI1 LOC100507006
esv2759055	Chr.2:64025871 - 64312422 on Build GRCh38	Gain	LINC00309 LOC105374768 PELI1 LOC100507006
nsv582126	Chr.2:63346276 - 64470570 on Build GRCh38	Gain	UGP2 MDH1 LINC00309 LOC647115 MIR4433B MIR4433A LOC105374768 LGALSL PELI1 WDPCP LOC100507006 VPS54

More Information

Additional Information:

For this assay, SNP(s) [rs114303054] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, protein modifying enzyme

Gene Ontology Categories:

Process(es)

positive regulation of cytokine production
Toll signaling pathway
positive regulation of B cell proliferation
positive regulation of protein ubiquitination
negative regulation of NF-kappaB transcription factor activity
response to lipopolysaccharide
positive regulation of toll-like receptor 3 signaling pathway
positive regulation of toll-like receptor 4 signaling pathway
negative regulation of T cell proliferation
positive regulation of I-kappaB kinase/NF-kappaB signaling
response to dsRNA
protein K48-linked ubiquitination

Function(s)

protein binding
ligase activity
ubiquitin-ubiquitin ligase activity