Hs02022465_cn

• Gene Symbol: EMC6
• Assay Reference Genome Location: Chr.17:3669458 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 83460
• Gene Name: ER membrane protein complex subunit 6
• Gene Aliases: TMEM93
• Location: Chr.17:3668723-3669669 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMC6	NM_001014764.2	2	651	NP_001014764.1
	NM_031298.3	2	538	NP_112588.1
	AA161105.1	1	214
	BC001409.1	2	446	AAH01409.1
	BM825446.1	2	432
	BQ277705.1	2	552
	BU931404.1	2	552

Target Gene Details

• Entrez Gene ID: 100533970
• Gene Name: P2RX5-TAX1BP3 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.17:3662893-3696404 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX5-TAX1BP3	NR_037928.1	12	4694
	AB209623.1	12	4483	BAD92860.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	GSG2 P2RX5 TRPV1 SPATA22 SHPK TAX1BP3 ASPA P2RX5-TAX1BP3 ITGAE TRPV3 EMC6 CTNS
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	NCBP3 OR3A3 OR3A2 CLUH TAX1BP3 OR1D5 OR3A4P ITGAE LOC105371592 CTNS MIR1253 OR1G1 OR3A1 P2RX5 ATP2A3 CCDC92B TRPV1 SPATA22 OR1A2 EMC6 CAMKK1 OR1E2 OR1E1 SHPK OR1A1 MIR6776 ASPA P2RX5-TAX1BP3 OR1D2 TRPV3 RAP1GAP2 P2RX1 GSG2 LOC105371591 LOC101927911 PAFAH1B1 OR1D4
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	NCBP3 OR3A3 CAMKK1 OR1E2 OR1E1 OR3A2 SHPK TAX1BP3 ASPA P2RX5-TAX1BP3 ITGAE TRPV3 CTNS GSG2 P2RX5 TRPV1 SPATA22 EMC6
nsv1947	Chr.17:3641882 - 3673842 on Build GRCh38	Insertion	P2RX5 TAX1BP3 P2RX5-TAX1BP3 EMC6 CTNS
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	GSG2 P2RX5 SHPK TAX1BP3 P2RX5-TAX1BP3 ITGAE EMC6 CTNS
nsv952107	Chr.17:3640507 - 3691806 on Build GRCh38	Deletion	P2RX5 TAX1BP3 P2RX5-TAX1BP3 EMC6 CTNS

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

autophagosome assembly
protein folding in endoplasmic reticulum

Function(s)

protein binding