Hs05345653_cn

• Gene Symbol: EMC7
• Assay Reference Genome Location: Chr.15:34096531 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 56851
• Gene Name: ER membrane protein complex subunit 7
• Gene Aliases: C11orf3, C15orf24, HT022, ORF1-FL1
• Location: Chr.15:34084022-34101852 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMC7	NM_020154.2			NP_064539.1
	AF242729.1			AAG44477.1
	AJ245874.1			CAC01611.1
	AJ250344.1			CAB96539.1
	AK314883.1
	AY358445.1			AAQ88810.1
	BC012456.1			AAH12456.1
	BC104934.1			AAI04935.1
	BC104936.1			AAI04937.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471235	Chr.15:33743328 - 34129750 on Build GRCh38	Gain	AVEN PGBD4 EMC7 CHRM5 RYR3
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	EMC7 MIR1233-2 ARHGAP11A GOLGA8B LOC101928134 GREM1 EMC4 KATNBL1 LOC100131315 AVEN PGBD4 NUTM1 GOLGA8A LOC101928042 CHRM5 SLC12A6 RYR3 LOC105370757 FMN1 SCG5 NOP10 MIR1233-1 LPCAT4 TMCO5B
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	EMC7 MIR1233-2 ULK4P1 GOLGA8B LOC101928134 EMC4 KATNBL1 LOC100131315 AVEN PGBD4 GOLGA8N SLC12A6 RYR3 FMN1 SCG5 NOP10 LPCAT4 GOLGA8K LOC100653133 GOLGA8O WHAMMP1 ARHGAP11A GREM1 LOC101060588 CHRNA7 LOC105370940 NUTM1 GOLGA8A LOC101928042 CHRM5 LOC105370757 LOC100996255 MIR1233-1 TMCO5B
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	EMC7 MIR1233-2 GOLGA8B AQR GJD2 EMC4 KATNBL1 LOC101928174 AVEN PGBD4 NUTM1 ACTC1 GOLGA8A ZNF770 CHRM5 SLC12A6 RYR3 NOP10 MIR1233-1 LPCAT4
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	AVEN PGBD4 EMC7 CHRM5 RYR3
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	EMC7 MIR1233-2 GOLGA8B LOC101928134 EMC4 KATNBL1 LOC100131315 AVEN PGBD4 GOLGA8N SLC12A6 RYR3 FMN1 SCG5 NOP10 LPCAT4 ARHGAP11A GREM1 NUTM1 GOLGA8A LOC101928042 CHRM5 LOC105370757 MIR1233-1 TMCO5B

More Information

Additional Information:

For this assay, SNP(s) [rs115879229] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

carbohydrate binding