Hs03005387_cn

• Gene Symbol: EMC6
• Assay Reference Genome Location: Chr.17:3668858 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMC6	NM_001014764.2	1	136	NP_001014764.1
	NM_031298.3	1	136	NP_112588.1
	BC001409.1			AAH01409.1
	BM825446.1
	BQ277705.1
	BU931404.1
	HY014822.1	1	137

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 Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX5-TAX1BP3	NR_037928.1
	AB209623.1			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	EMC6 TRPV1 ITGAE CTNS SPATA22 TAX1BP3 TRPV3 ASPA GSG2 P2RX5 P2RX5-TAX1BP3 SHPK
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	EMC6 LOC105371592 RAP1GAP2 OR3A1 CTNS OR1D2 CCDC92B TAX1BP3 OR3A2 TRPV3 CLUH OR1A1 GSG2 SHPK OR1D5 TRPV1 ITGAE NCBP3 OR1D4 LOC105371591 PAFAH1B1 CAMKK1 OR1E1 OR1E2 ASPA P2RX5 MIR6776 P2RX5-TAX1BP3 LOC101927911 OR1A2 ATP2A3 OR3A4P MIR1253 OR1G1 SPATA22 OR3A3 P2RX1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	EMC6 CTNS TAX1BP3 OR3A2 TRPV3 GSG2 SHPK TRPV1 ITGAE NCBP3 SPATA22 OR3A3 CAMKK1 OR1E1 OR1E2 ASPA P2RX5 P2RX5-TAX1BP3
nsv1947	Chr.17:3641882 - 3673842 on Build GRCh38	Insertion	EMC6 CTNS TAX1BP3 P2RX5 P2RX5-TAX1BP3
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	EMC6 ITGAE CTNS TAX1BP3 GSG2 P2RX5 P2RX5-TAX1BP3 SHPK
nsv952107	Chr.17:3640507 - 3691806 on Build GRCh38	Deletion	EMC6 CTNS TAX1BP3 P2RX5 P2RX5-TAX1BP3

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-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