Hs03956877_cn

• Gene Symbol: GJC1
• Assay Reference Genome Location: Chr.17:44813992 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 10052
• Gene Name: gap junction protein gamma 1
• Gene Aliases: CX45, GJA7
• Location: Chr.17:44794988-44830811 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJC1	NM_001080383.1			NP_001073852.1
	NM_005497.3			NP_005488.2
	XM_005256920.1			XP_005256977.1
	CN299428.1
	DA845933.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3554461	Chr.17:44811199 - 44814402 on Build GRCh38	Deletion	GJC1
esv2674378	Chr.17:44811315 - 44814425 on Build GRCh38	Deletion	GJC1
nsv833456	Chr.17:44639788 - 44825873 on Build GRCh38	Gain+Loss	LINC01180 DBF4B GJC1 ADAM11 CCDC43 MEIOC
nsv828021	Chr.17:44786920 - 44829084 on Build GRCh38	Gain	GJC1
esv3640655	Chr.17:44810918 - 44814459 on Build GRCh38	Loss	GJC1

More Information

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

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

vasculogenesis
transport
muscle contraction
cell-cell junction assembly
chemical synaptic transmission
visual perception
gap junction assembly
ion transmembrane transport
cell development
cardiac muscle tissue development
atrial cardiac muscle cell action potential

Function(s)

ion channel activity
gap junction channel activity