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

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