Hs00527281_cn

• Gene Symbol: EMC6
• Assay Reference Genome Location: Chr.17:3669356 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	549	NP_001014764.1
	NM_031298.3	2	436	NP_112588.1
	AA161105.1	1	316
	BC001409.1	2	344	AAH01409.1
	BM825446.1	2	330
	BQ277705.1	2	450
	BU931404.1	2	450
	HY014822.1

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	4796
	AB209623.1	12	4585	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	TRPV3 ASPA SPATA22 P2RX5 GSG2 TAX1BP3 P2RX5-TAX1BP3 EMC6 TRPV1 ITGAE SHPK CTNS
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	SPATA22 NCBP3 TAX1BP3 LOC105371591 P2RX5-TAX1BP3 EMC6 OR1G1 OR3A4P OR1A1 OR1E1 P2RX1 MIR1253 SHPK LOC105371592 CLUH ASPA GSG2 PAFAH1B1 OR3A1 OR1D2 ATP2A3 TRPV3 P2RX5 MIR6776 OR1D4 CAMKK1 TRPV1 OR3A2 ITGAE LOC101927911 OR1E2 CTNS OR3A3 OR1A2 RAP1GAP2 OR1D5 CCDC92B
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	TRPV3 SPATA22 P2RX5 NCBP3 TAX1BP3 P2RX5-TAX1BP3 CAMKK1 EMC6 TRPV1 OR3A2 ITGAE OR1E2 OR1E1 SHPK CTNS ASPA GSG2 OR3A3
nsv1947	Chr.17:3641882 - 3673842 on Build GRCh38	Insertion	P2RX5 TAX1BP3 P2RX5-TAX1BP3 EMC6 CTNS
nsv833342	Chr.17:3626188 - 3806082 on Build GRCh38	Loss	P2RX5 GSG2 TAX1BP3 P2RX5-TAX1BP3 EMC6 ITGAE SHPK 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