Hs03577073_cn

• Gene Symbol: MXD3
• Assay Reference Genome Location: Chr.5:177305678 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 83463
• Gene Name: MAX dimerization protein 3
• Gene Aliases: BHLHC13, MAD3, MYX
• Location: Chr.5:177305500-177312291 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MXD3	NM_001142935.1	6	2484	NP_001136407.1
	AK057034.1	6	2091	BAB71352.1
	AK092842.1	1	2386	BAC03987.1

Target Gene Details

• Entrez Gene ID: 27166
• Gene Name: PRELI domain containing 1
• Gene Aliases: CGI-106, PRELI, PX19, SBBI12
• Location: Chr.5:177303762-177306959 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRELID1	NM_001271828.1			NP_001258757.1
	NM_013237.3			NP_037369.1
	AF087858.1			AAP97168.1
	AF112203.1			AAF17191.1
	AF151864.1			AAD34101.1
	AF153607.1			AAD41089.1
	AF201925.1			AAF09255.1
	AK312170.1
	BC000007.2			AAH00007.1
	BC007268.1			AAH07268.1
	BC008307.1			AAH08307.1
	BC008866.2			AAH08866.1
	BC013733.1			AAH13733.1
	BC013748.1			AAH13748.1
	BG739785.1
	BU956915.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv600364	Chr.5:177299634 - 177432847 on Build GRCh38	Loss	LMAN2 PFN3 PRELID1 GRK6 SLC34A1 RGS14 RAB24 MXD3 NSD1 F12
esv2759396	Chr.5:177191316 - 177375443 on Build GRCh38	Gain	LMAN2 PRELID1 RGS14 RAB24 MXD3 NSD1
nsv980764	Chr.5:177304568 - 177306141 on Build GRCh38	Duplication	PRELID1 MXD3
nsv1161311	Chr.5:177305104 - 177546474 on Build GRCh38	Duplication	PDLIM7 PRELID1 DBN1 FAM193B SLC34A1 F12 PRR7-AS1 DDX41 LMAN2 PFN3 GRK6 RGS14 MXD3 DOK3 PRR7

More Information

Additional Information:

For this assay, SNP(s) [rs144303874] 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 -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
negative regulation of transcription, DNA-templated
apoptotic process
immune response
multicellular organism development
negative regulation of mitochondrial membrane potential
positive regulation of endopeptidase activity
phospholipid transport
regulation of apoptotic process
negative regulation of apoptotic process
regulation of T cell differentiation
regulation of mitochondrial membrane potential
positive regulation of T cell apoptotic process
negative regulation of release of cytochrome c from mitochondria
regulation of membrane lipid distribution
positive regulation of cellular respiration
positive regulation of phospholipid transport

Function(s)

DNA binding
protein binding
protein dimerization activity
phosphatidic acid transporter activity