Hs06693071_cn

• Gene Symbol: ATG7
• Assay Reference Genome Location: Chr.3:11563116 on build GRCh38
• Cytoband: 3p25.3

Target Gene Details

• Entrez Gene ID: 10533
• Gene Name: autophagy related 7
• Gene Aliases: APG7-LIKE, APG7L, GSA7
• Location: Chr.3:11272324-11564704 on Build GRCh38
• Assay Gene Location: Within Intron 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATG7	XM_017005547.1			XP_016861036.1
	XM_017005554.1			XP_016861043.1

Target Gene Details

• Entrez Gene ID: 9686
• Gene Name: vestigial like family member 4
• Gene Aliases: VGL-4
• Location: Chr.3:11556067-11720768 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VGLL4	NM_001128219.2			NP_001121691.1
	NM_001128220.2			NP_001121692.1
	NM_001128221.2			NP_001121693.1
	NM_001284390.1			NP_001271319.1
	NM_001284391.1			NP_001271320.1
	NM_014667.3			NP_055482.2
	XM_011534267.2			XP_011532569.1
	XM_011534268.1			XP_011532570.1
	XM_011534269.1			XP_011532571.1
	XM_017007541.1			XP_016863030.1
	XM_017007542.1			XP_016863031.1
	AK130542.1			BAC85375.1
	AK300344.1
	AK307708.1
	AK308761.1
	BC001514.2			AAH01514.2
	BC003038.1			AAH03038.1
	D50911.3
	DA496407.1
	DA525713.1
	DR159250.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv955314	Chr.3:11552827 - 11568726 on Build GRCh38	Deletion	ATG7 VGLL4
nsv436362	Chr.3:10048344 - 11860564 on Build GRCh38	Deletion	MIR378B GHRL BRK1 LINC00852 SLC6A11 SLC6A1 TAMM41 FANCD2 LINC00606 SEC13 MIR885 LOC101927467 ATG7 IRAK2 ATP2B2 FANCD2OS TATDN2 VHL VGLL4 SLC6A1-AS1 GHRLOS ATP2B2-IT2 HRH1
nsv517831	Chr.3:11541780 - 11576994 on Build GRCh38	Loss	ATG7 VGLL4
esv2677845	Chr.3:11489013 - 11864643 on Build GRCh38	Deletion	ATG7 TAMM41 VGLL4
dgv762e201	Chr.3:10008967 - 11913136 on Build GRCh38	Deletion	MIR378B BRK1 SLC6A11 TAMM41 LINC00606 SEC13 VHL FANCD2P2 GHRL LINC00852 SLC6A1 FANCD2 MIR885 LOC101927467 CIDECP ATG7 IRAK2 ATP2B2 FANCD2OS EMC3 TATDN2 VGLL4 SLC6A1-AS1 GHRLOS LOC401052 ATP2B2-IT2 HRH1
nsv1121603	Chr.3:10071433 - 11889279 on Build GRCh38	Deletion	FANCD2P2 MIR378B GHRL BRK1 LINC00852 SLC6A11 SLC6A1 TAMM41 FANCD2 LINC00606 SEC13 MIR885 LOC101927467 ATG7 IRAK2 ATP2B2 FANCD2OS TATDN2 VHL VGLL4 SLC6A1-AS1 GHRLOS ATP2B2-IT2 HRH1
nsv436869	Chr.3:10064456 - 11877985 on Build GRCh38	Insertion	FANCD2P2 MIR378B GHRL BRK1 LINC00852 SLC6A11 SLC6A1 TAMM41 FANCD2 LINC00606 SEC13 MIR885 LOC101927467 ATG7 IRAK2 ATP2B2 FANCD2OS TATDN2 VHL VGLL4 SLC6A1-AS1 GHRLOS ATP2B2-IT2 HRH1
nsv1073204	Chr.3:9996548 - 11875005 on Build GRCh38	Deletion	MIR378B BRK1 SLC6A11 TAMM41 LINC00606 SEC13 VHL FANCD2P2 GHRL LINC00852 SLC6A1 FANCD2 MIR885 EMC3-AS1 LOC101927467 CIDECP ATG7 IRAK2 ATP2B2 FANCD2OS EMC3 TATDN2 VGLL4 SLC6A1-AS1 GHRLOS LOC401052 ATP2B2-IT2 HRH1
nsv821986	Chr.3:11563133 - 11563867 on Build GRCh38	Loss	ATG7 VGLL4

More Information

Additional Information:

For this assay, SNP(s) [rs116751004] 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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase, transcription cofactor

Gene Ontology Categories:

Process(es)

cellular protein modification process
protein lipidation
C-terminal protein lipidation
cellular response to nitrogen starvation
cellular response to starvation
positive regulation of autophagy
protein transport
macroautophagy
positive regulation of macroautophagy
protein ubiquitination
positive regulation of protein modification process
piecemeal microautophagy of nucleus
suppression by virus of host autophagy
positive regulation of apoptotic process
late nucleophagy
positive regulation of protein catabolic process
defense response to virus
membrane fusion
cellular response to hyperoxia
regulation of mitophagy
transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

ubiquitin activating enzyme activity
protein binding
transcription factor binding
Atg12 activating enzyme activity
Atg8 activating enzyme activity
protein homodimerization activity