Hs02162901_cn

• Gene Symbol: FAM71D
• Assay Reference Genome Location: Chr.14:67204899 on build GRCh38
• Cytoband: 14q23.3

Target Gene Details

• Entrez Gene ID: 161142
• Gene Name: family with sequence similarity 71 member D
• Gene Aliases: C14orf54
• Location: Chr.14:67188365-67228550 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM71D	NM_173526.3	5	1012	NP_775797.2
	XM_011536500.1	5	976	XP_011534802.1
	XM_011536502.1	5	911	XP_011534804.1
	XM_011536503.2	4	1953	XP_011534805.1
	AK093449.1	5	976	BAC04169.1
	BC050401.1	5	944	AAH50401.1

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 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	MPP5 EIF2S1 GPHN PLEK2 LOC105370541 FAM71D ATP6V1D
nsv832821	Chr.14:67123701 - 67361452 on Build GRCh38	Gain	MPP5 EIF2S1 GPHN LOC105370541 FAM71D ATP6V1D

More Information

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

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

Function(s)

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