Hs01719783_cn

• Gene Symbol: MXD3
• Assay Reference Genome Location: Chr.5:177306184 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	1978	NP_001136407.1
	AK057034.1	6	1585	BAB71352.1
	AK092842.1	1	1880	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: Overlaps Exon 4 - Intron 4

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 F12 NSD1 RGS14 SLC34A1 PRELID1 MXD3 RAB24 PFN3 GRK6
nsv428132	Chr.5:177191316 - 177375443 on Build GRCh38	Gain	LMAN2 NSD1 RGS14 PRELID1 MXD3 RAB24
nsv980764	Chr.5:177304568 - 177306141 on Build GRCh38	Duplication	PRELID1 MXD3
nsv1161311	Chr.5:177305104 - 177546474 on Build GRCh38	Duplication	LMAN2 F12 DOK3 GRK6 FAM193B RGS14 SLC34A1 PRELID1 MXD3 PRR7 DDX41 PFN3 DBN1 PDLIM7 PRR7-AS1

More Information

• Set Membership: Intragenic, Exonic, 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