Hs01200841_cn

• Gene Symbol: EMC6
• Assay Reference Genome Location: Chr.17:3669583 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	776	NP_001014764.1
	NM_031298.3	2	663	NP_112588.1
	AA161105.1	1	89
	BC001409.1	2	571	AAH01409.1
	BM825446.1	2	557
	BQ277705.1	2	677
	BU931404.1	2	677

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	4569
	AB209623.1	12	4358	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	P2RX5-TAX1BP3 CTNS TAX1BP3 TRPV1 TRPV3 EMC6 GSG2 ASPA P2RX5 SHPK ITGAE SPATA22
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	P2RX5-TAX1BP3 OR1D4 TRPV3 OR1E1 SPATA22 CTNS CAMKK1 P2RX5 MIR6776 LOC105371591 OR3A4P TAX1BP3 TRPV1 NCBP3 OR1E2 ASPA ATP2A3 RAP1GAP2 OR3A2 OR1A2 CLUH CCDC92B OR1A1 MIR1253 OR1D5 EMC6 LOC105371592 GSG2 P2RX1 OR3A1 OR3A3 SHPK OR1D2 PAFAH1B1 ITGAE LOC101927911 OR1G1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	P2RX5-TAX1BP3 TAX1BP3 TRPV1 NCBP3 TRPV3 OR1E2 ASPA OR1E1 OR3A2 SPATA22 CTNS EMC6 CAMKK1 GSG2 OR3A3 P2RX5 SHPK ITGAE
nsv1947	Chr.17:3641882 - 3673842 on Build GRCh38	Insertion	P2RX5-TAX1BP3 CTNS TAX1BP3 EMC6 P2RX5
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	P2RX5-TAX1BP3 CTNS TAX1BP3 EMC6 GSG2 P2RX5 SHPK ITGAE
nsv952107	Chr.17:3640507 - 3691806 on Build GRCh38	Deletion	P2RX5-TAX1BP3 CTNS TAX1BP3 EMC6 P2RX5

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