Hs01610287_cn

• Gene Symbol: DEFA5
• Assay Reference Genome Location: Chr.8:7056545 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 1670
• Gene Name: defensin alpha 5
• Gene Aliases: DEF5, HD-5
• Location: Chr.8:7055300-7056739 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFA5	NM_021010.2			NP_066290.1
	BC069690.1			AAH69690.1
	BC107079.2			AAI07080.1
	BM854660.1
	BP419449.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1016920	Chr.8:7022528 - 7068206 on Build GRCh38	Gain	DEFA7P DEFA5 DEFA11P
esv3616104	Chr.8:7022307 - 7063037 on Build GRCh38	Gain	DEFA7P DEFA5 DEFA11P
dgv6881n100	Chr.8:6975834 - 7182319 on Build GRCh38	Gain	DEFA3 DEFT1P2 DEFA7P DEFA5 DEFA1B DEFA11P DEFT1P DEFA1
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFB1 DEFA9P DEFA3 DEFT1P2 DEFA10P DEFA4 DEFA1B DEFA11P DEFT1P DEFA6 DEFA8P DEFA7P DEFA5 DEFA1
esv3891316	Chr.8:7044556 - 7068347 on Build GRCh38	Loss	DEFA5
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFB1 DEFA9P DEFA3 DEFT1P2 DEFA10P DEFA4 XKR5 DEFA1B DEFA11P DEFT1P DEFA6 DEFA8P GS1-24F4.2 DEFA7P DEFA5 DEFA1
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	PRR23D1 OR7E154P DEFB108P1 DEFA10P ZNF705B FAM90A7P DEFT1P DEFB104A DEFB105B DEFB107B MIR548I3 SPAG11B DEFA8P DEFA7P DEFA5 FAM66E DEFA9P DEFT1P2 DEFB103A DEFB105A FAM90A10P DEFB107A DEFB106B DEFB106A LOC107986910 USP17L4 LOC101929400 DEFB4B DEFA3 FAM66B ZNF705G DEFA1B USP17L1 DEFA6 DEFB104B DEFB109P1B DEFB1 DEFB103B DEFB4A USP17L3 FAM86B3P DEFA4 DEFA11P OR7E125P LOC101928095 USP17L8 SPAG11A PRR23D2 LINC00965 DEFA1
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFB1 DEFA9P DEFA3 DEFT1P2 DEFA10P DEFA4 DEFA1B DEFA11P DEFT1P DEFA6 DEFA8P DEFA7P DEFA5 DEFA1
nsv1161708	Chr.8:7041554 - 7167045 on Build GRCh38	Deletion	DEFA5
nsv1031577	Chr.8:6712833 - 8008628 on Build GRCh38	Gain	PRR23D1 OR7E154P DEFB108P1 DEFA10P ZNF705B FAM90A7P DEFT1P DEFB104A DEFB105B DEFB107B SPAG11B DEFA8P DEFA7P DEFA5 FAM66E MIR4659B DEFA9P DEFT1P2 DEFB103A DEFB105A FAM90A10P DEFB107A DEFB106B DEFB106A LOC107986910 USP17L4 LOC101929400 DEFB4B DEFA3 FAM66B ZNF705G XKR5 DEFA1B USP17L1 DEFA6 MIR4659A DEFB104B DEFB109P1B DEFB1 DEFB103B DEFB4A AGPAT5 USP17L3 DEFA4 DEFA11P OR7E125P LOC101928095 USP17L8 SPAG11A GS1-24F4.2 PRR23D2 LINC00965 DEFA1
dgv6883n100	Chr.8:7018608 - 7153553 on Build GRCh38	Gain	DEFA7P DEFA5 DEFA11P
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	PRR23D1 OR7E154P DEFB108P1 DEFA10P ZNF705B FAM90A7P DEFT1P DEFB104A DEFB105B DEFB107B MIR548I3 SPAG11B DEFA8P DEFA7P DEFA5 FAM66E DEFA9P DEFT1P2 DEFB103A DEFB105A FAM90A10P DEFB107A DEFB106B DEFB106A LOC107986910 USP17L4 LOC101929400 DEFB4B DEFA3 FAM66B ZNF705G DEFA1B USP17L1 DEFA6 DEFB104B DEFB109P1B DEFB1 DEFB103B DEFB4A SGK223 USP17L3 FAM86B3P DEFA4 DEFA11P OR7E125P LOC101928095 USP17L8 SPAG11A PRR23D2 LINC00965 DEFA1
esv2752262	Chr.8:6781378 - 7153553 on Build GRCh38	Gain	DEFB1 DEFA9P DEFA3 DEFT1P2 DEFA10P DEFA4 XKR5 DEFA1B DEFA11P DEFT1P DEFA6 DEFA8P GS1-24F4.2 DEFA7P DEFA5 DEFA1
nsv515968	Chr.8:7022281 - 8287918 on Build GRCh38	Gain+Loss	PRR23D1 OR7E154P DEFB108P1 LOC101929400 DEFB4B ZNF705B FAM66B FAM90A7P ZNF705G USP17L1 DEFB104A DEFB105B DEFB107B DEFB104B MIR548I3 SPAG11B DEFA7P DEFA5 DEFB109P1B FAM66E DEFB103B DEFB4A DEFB103A USP17L3 FAM86B3P DEFB105A DEFA11P OR7E125P FAM90A10P DEFB107A DEFB106B LOC101928095 USP17L8 DEFB106A SPAG11A LOC107986910 USP17L4 PRR23D2 LINC00965
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA9P DEFA3 DEFT1P2 DEFA10P DEFA4 DEFA1B DEFA11P DEFT1P DEFA6 DEFA8P DEFA7P DEFA5 DEFA1
nsv831222	Chr.8:7056201 - 7270814 on Build GRCh38	Loss	LOC101928095 DEFA5 OR7E125P LINC00965
nsv821656	Chr.8:7026684 - 8317105 on Build GRCh38	Gain	PRR23D1 OR7E154P DEFB108P1 LOC101929400 DEFB4B ZNF705B FAM66B FAM90A7P ZNF705G USP17L1 DEFB104A DEFB105B DEFB107B DEFB104B MIR548I3 SPAG11B DEFA7P DEFA5 DEFB109P1B FAM66E DEFB103B DEFB4A DEFB103A USP17L3 FAM86B3P DEFB105A DEFA11P OR7E125P FAM90A10P DEFB107A DEFB106B LOC101928095 USP17L8 DEFB106A SPAG11A LOC107986910 USP17L4 PRR23D2 LINC00965
esv2761169	Chr.8:7001293 - 8214781 on Build GRCh38	Gain+Loss	PRR23D1 OR7E154P DEFB108P1 LOC101929400 DEFB4B DEFA3 ZNF705B FAM66B FAM90A7P ZNF705G USP17L1 DEFB104A DEFB105B DEFB107B DEFB104B MIR548I3 SPAG11B DEFA7P DEFA5 DEFB109P1B FAM66E DEFB103B DEFB4A DEFT1P2 DEFB103A USP17L3 DEFB105A DEFA11P OR7E125P FAM90A10P DEFB107A DEFB106B LOC101928095 USP17L8 DEFB106A SPAG11A LOC107986910 USP17L4 PRR23D2 LINC00965
dgv6879n100	Chr.8:6951385 - 7368902 on Build GRCh38	Gain	DEFA9P DEFA3 DEFT1P2 DEFA10P FAM66B ZNF705G DEFA1B DEFA11P DEFT1P USP17L1 OR7E125P LOC101928095 DEFA8P DEFA7P USP17L4 DEFA5 DEFB109P1B LINC00965 DEFA1
nsv610006	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFB1 MIR4659B DEFA9P DEFA3 DEFT1P2 DEFA10P AGPAT5 DEFA4 XKR5 DEFA1B DEFA11P DEFT1P DEFA6 MIR4659A DEFA8P GS1-24F4.2 DEFA7P DEFA5 DEFA1

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