Hs00992775_cn

• Gene Symbol: DEFA6
• Assay Reference Genome Location: Chr.8:6925859 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 1671
• Gene Name: defensin alpha 6
• Gene Aliases: DEF6, HD-6
• Location: Chr.8:6924694-6926076 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFA6	NM_001926.3			NP_001917.1
	BC069667.1			AAH69667.1
	BC069710.1			AAH69710.1
	BC069728.1			AAH69728.1
	BC069769.1			AAH69769.1
	BC093951.1			AAH93951.1
	BC093953.1			AAH93953.1
	M98331.1			AAB59357.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021684	Chr.8:6492570 - 6951933 on Build GRCh38	Loss	MIR4659B AGPAT5 DEFA8P DEFB1 DEFA6 MCPH1-AS1 MCPH1 MIR4659A DEFA4 GS1-24F4.2 ANGPT2 MIR8055 XKR5
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA8P DEFA1B DEFA6 DEFA1 DEFA11P DEFA7P DEFA10P DEFT1P DEFA4 DEFA3 DEFA5 DEFA9P DEFT1P2
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFA8P DEFA1B DEFB1 DEFA6 DEFA1 DEFA11P DEFA7P DEFA10P DEFT1P DEFA4 DEFA3 DEFA5 DEFA9P DEFT1P2
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA8P DEFA1B DEFB1 DEFA6 DEFA1 DEFA11P DEFA7P DEFA10P DEFT1P DEFA4 GS1-24F4.2 DEFA3 DEFA5 DEFA9P DEFT1P2 XKR5
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	DEFB106B DEFA8P DEFB105B FAM90A7P DEFB104B PRR23D1 DEFA11P ZNF705G DEFA10P DEFB108P1 DEFA3 MIR548I3 FAM66E DEFB105A DEFA1 PRR23D2 DEFB109P1B DEFA7P LINC00965 DEFA4 ZNF705B FAM86B3P DEFA5 DEFA9P SPAG11B LOC101928095 OR7E125P DEFB1 FAM90A10P OR7E154P DEFB4B DEFB103A DEFT1P USP17L4 USP17L3 DEFB103B DEFB104A DEFT1P2 LOC101929400 DEFA1B SPAG11A USP17L1 DEFA6 DEFB107B LOC107986910 FAM66B USP17L8 DEFB106A DEFB107A DEFB4A
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFA8P DEFA1B DEFB1 DEFA6 DEFA1 DEFA11P DEFA7P DEFA10P DEFT1P DEFA4 DEFA3 DEFA5 DEFA9P DEFT1P2
nsv509248	Chr.8:6921313 - 6979349 on Build GRCh38	Insertion	DEFA10P DEFA8P DEFA4 DEFA6 DEFA1 DEFA9P
nsv610006	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	MIR4659B AGPAT5 DEFA8P DEFA1B DEFB1 DEFA6 DEFA1 DEFA11P DEFA7P MIR4659A DEFA10P DEFT1P DEFA4 GS1-24F4.2 DEFA3 DEFA5 DEFA9P DEFT1P2 XKR5
nsv1031577	Chr.8:6712833 - 8008628 on Build GRCh38	Gain	AGPAT5 DEFB106B DEFA8P DEFB105B FAM90A7P DEFB104B PRR23D1 DEFA11P ZNF705G MIR4659A DEFA10P GS1-24F4.2 DEFB108P1 DEFA3 FAM66E DEFB105A DEFA1 PRR23D2 DEFB109P1B DEFA7P LINC00965 DEFA4 ZNF705B DEFA5 DEFA9P MIR4659B SPAG11B LOC101928095 OR7E125P DEFB1 FAM90A10P OR7E154P DEFB4B DEFB103A DEFT1P USP17L4 USP17L3 DEFB103B DEFB104A DEFT1P2 LOC101929400 DEFA1B SPAG11A USP17L1 DEFA6 DEFB107B LOC107986910 FAM66B USP17L8 DEFB106A DEFB107A DEFB4A XKR5
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	DEFB106B DEFA8P DEFB105B FAM90A7P DEFB104B PRR23D1 DEFA11P ZNF705G DEFA10P DEFB108P1 DEFA3 MIR548I3 FAM66E DEFB105A DEFA1 PRR23D2 DEFB109P1B DEFA7P LINC00965 DEFA4 ZNF705B FAM86B3P DEFA5 DEFA9P SPAG11B LOC101928095 OR7E125P DEFB1 FAM90A10P OR7E154P DEFB4B DEFB103A DEFT1P USP17L4 USP17L3 DEFB103B DEFB104A DEFT1P2 LOC101929400 DEFA1B SPAG11A USP17L1 DEFA6 DEFB107B LOC107986910 FAM66B SGK223 USP17L8 DEFB106A DEFB107A DEFB4A
nsv465437	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA10P DEFA8P DEFA4 DEFB1 GS1-24F4.2 DEFA6 DEFA9P XKR5
esv2752262	Chr.8:6781378 - 7153553 on Build GRCh38	Gain	DEFA8P DEFA1B DEFB1 DEFA6 DEFA1 DEFA11P DEFA7P DEFA10P DEFT1P DEFA4 GS1-24F4.2 DEFA3 DEFA5 DEFA9P DEFT1P2 XKR5

More Information

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

Panther Classification:

Molecular Function -

antimicrobial response protein

Gene Ontology Categories:

Process(es)

antibacterial humoral response
killing of cells of other organism
innate immune response
defense response to fungus

Function(s)

protein binding