Hs02966302_cn

• Gene Symbol: GJB6
• Assay Reference Genome Location: Chr.13:20223092 on build GRCh38
• Cytoband: 13q12.11

Target Gene Details

• Entrez Gene ID: 10804
• Gene Name: gap junction protein beta 6
• Gene Aliases: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
• Location: Chr.13:20221962-20232395 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJB6	NM_001110219.2	5	1010	NP_001103689.1
	NM_001110220.2	4	900	NP_001103690.1
	NM_001110221.2	3	776	NP_001103691.1
	NM_006783.4	3	942	NP_006774.2
	XM_017020357.1	4	1215	XP_016875846.1
	XM_017020358.1	5	905	XP_016875847.1
	XM_017020359.1	5	935	XP_016875848.1
	XM_017020360.1	4	702	XP_016875849.1
	AK075247.1	5	842
	AK289592.1	3	690
	AK312352.1	3	649
	AY297110.1	1	389	AAP51162.1
	BC038934.1	3	637	AAH38934.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3631424	Chr.13:20190147 - 20280383 on Build GRCh38	Gain	GJB2 GJB6
dgv1612n100	Chr.13:20222652 - 20530273 on Build GRCh38	Loss	GJB6 CRYL1 MIR4499
esv3631426	Chr.13:20219223 - 20261765 on Build GRCh38	Gain	GJB6
dgv3072n54	Chr.13:20216603 - 20521581 on Build GRCh38	Loss	GJB6 CRYL1 MIR4499
esv3631421	Chr.13:20145912 - 20223722 on Build GRCh38	Gain	GJB2 GJB6 GJA3
nsv1046946	Chr.13:19730301 - 20507454 on Build GRCh38	Gain	GJB2 GJB6 ZMYM5 LINC01072 CRYL1 ZMYM2 MIR4499 PSPC1 GJA3
esv2751132	Chr.13:20217943 - 20546665 on Build GRCh38	Loss	GJB6 CRYL1 MIR4499

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

apoptotic process
cell communication
aging
sensory perception of sound
negative regulation of cell proliferation
response to lipopolysaccharide
ear morphogenesis
inner ear development
response to electrical stimulus
cellular response to glucose stimulus