Hs01999864_cn

• Gene Symbol: PELI1
• Assay Reference Genome Location: Chr.2:64100488 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: Overlaps Intron 6 - Exon 7

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
	AK027668.1			BAB55280.1
	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	PELI1 LOC100507006 LINC00309
nsv582127	Chr.2:63618350 - 64923736 on Build GRCh38	Gain	VPS54 UGP2 MIR4433B PELI1 LOC339807 LOC101927438 LOC105374768 MIR4433A LOC101927402 LOC100507006 MIR4434 LGALSL LOC400958 LINC00309 AFTPH LOC647115 SERTAD2 WDPCP
nsv1013132	Chr.2:64008041 - 64403950 on Build GRCh38	Loss	VPS54 MIR4433B PELI1 LOC105374768 MIR4433A LOC100507006 LINC00309
nsv834243	Chr.2:64089380 - 64249801 on Build GRCh38	Gain+Loss	PELI1 LOC100507006 LINC00309
nsv428396	Chr.2:64025871 - 64312422 on Build GRCh38	Gain	PELI1 LOC105374768 LOC100507006 LINC00309
nsv582126	Chr.2:63346276 - 64470570 on Build GRCh38	Gain	LOC647115 VPS54 UGP2 MIR4433B PELI1 LOC105374768 WDPCP MIR4433A LOC100507006 LGALSL MDH1 LINC00309

More Information

• Set Membership: Intragenic, 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