Hs02268253_cn

• Gene Symbol: GJB1
• Assay Reference Genome Location: Chr.X:71225210 on build GRCh38
• Cytoband: Xq13.1

Target Gene Details

• Entrez Gene ID: 2705
• Gene Name: gap junction protein beta 1
• Gene Aliases: CMTX, CMTX1, CX32
• Location: Chr.X:71215212-71225215 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJB1	NM_000166.5			NP_000157.1
	NM_001097642.2			NP_001091111.1
	XM_011530907.2			XP_011529209.1
	XM_017029408.1			XP_016884897.1
	AA041403.1
	BC002805.1			AAH02805.1
	BC022426.1			AAH22426.1
	BC039198.1			AAH39198.1
	CB155778.1
	X04325.1			CAA27856.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508781	Chr.X:71205875 - 71286242 on Build GRCh38	Insertion	GJB1 NONO ZMYM3
esv33082	Chr.X:70420685 - 71888183 on Build GRCh38	Loss	LOC101059915 NONO CXorf49B LINC00891 NLGN3 SNX12 CXorf49 LOC105373244 ACRC FOXO4 GDPD2 IL2RG LOC100129291 KIF4A DLG3-AS1 TAF1 OGT GJB1 CXCR3 INGX ITGB1BP2 LOC100132741 TEX11 MED12 ZMYM3 CXorf65 SLC7A3 DLG3

More Information

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

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

transport
cell-cell signaling
nervous system development
purine ribonucleotide transport
gap junction assembly
protein oligomerization
transmembrane transport

Function(s)

gap junction channel activity
protein homodimerization activity