Hs03070938_cn

• Gene Symbol: GPHN
• Assay Reference Genome Location: Chr.14:67397646 on build GRCh38
• Cytoband: 14q23.3

Target Gene Details

• Entrez Gene ID: 10243
• Gene Name: gephyrin
• Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Location: Chr.14:66507407-67735831 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Target Gene Details

• Entrez Gene ID: 26499
• Gene Name: pleckstrin 2
• Gene Aliases: -
• Location: Chr.14:67386979-67412200 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEK2	NM_016445.2			NP_057529.1
	XM_011536644.2			XP_011534946.1
	AF228603.1			AAF34791.1
	BC001226.1			AAH01226.1
	BC008056.2			AAH08056.2
	CR976852.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2751285	Chr.14:66898030 - 67420064 on Build GRCh38	Gain	EIF2S1 PLEK2 FAM71D MPP5 LOC105370541 ATP6V1D GPHN
esv2661146	Chr.14:67397040 - 67425328 on Build GRCh38	Deletion	PLEK2 GPHN
nsv1319	Chr.14:67396844 - 67442008 on Build GRCh38	Deletion	PLEK2 MIR5694 GPHN
nsv1318	Chr.14:67393582 - 67407079 on Build GRCh38	Insertion	PLEK2 GPHN
nsv509539	Chr.14:67383566 - 67405348 on Build GRCh38	Insertion	EIF2S1 PLEK2 GPHN
nsv456331	Chr.14:67266144 - 67637063 on Build GRCh38	Gain	EIF2S1 PLEK2 PIGH MIR5694 PLEKHH1 MPP5 ARG2 LOC105370541 TMEM229B HMGB1P34 ATP6V1D GPHN

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
glycine receptor clustering
gamma-aminobutyric acid receptor clustering
actin cytoskeleton organization
intracellular signal transduction

Function(s)

protein binding
ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity