Hs01152146_cn

• Gene Symbol: GPHN
• Assay Reference Genome Location: Chr.14:67241458 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: 64398
• Gene Name: membrane palmitoylated protein 5
• Gene Aliases: PALS1
• Location: Chr.14:67241295-67336061 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPP5	NM_001256550.1	1	164	NP_001243479.1
	NM_022474.3	1	164	NP_071919.2
	XM_011537086.2	1	64	XP_011535388.1
	AI245706.1	1	164
	AK057160.1
	AK098373.1	1	128	BAC05295.1
	AK291240.1	1	145
	AL832326.1	1	61	CAD38620.1
	AL832578.2			CAD89937.1
	BC053366.1	1	99	AAH53366.1
	BC095485.1	1	350	AAH95485.1
	BC129933.1	1	49

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3581256	Chr.14:67234632 - 67246628 on Build GRCh38	Loss	GPHN MPP5
esv2751285	Chr.14:66898030 - 67420064 on Build GRCh38	Gain	ATP6V1D GPHN LOC105370541 PLEK2 EIF2S1 FAM71D MPP5
nsv832821	Chr.14:67123701 - 67361452 on Build GRCh38	Gain	ATP6V1D GPHN LOC105370541 EIF2S1 FAM71D MPP5

More Information

Additional Information:

For this assay, SNP(s) [rs200541606] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

scaffold/adaptor 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
morphogenesis of an epithelial sheet
peripheral nervous system myelin maintenance
myelin assembly
protein localization to myelin sheath abaxonal region
bicellular tight junction assembly
establishment of protein localization to plasma membrane
establishment of epithelial cell polarity

Function(s)

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