Hs03637537_cn

• Gene Symbol: CHCHD3
• Assay Reference Genome Location: Chr.7:132800650 on build GRCh38
• Cytoband: 7q32.3

Target Gene Details

• Entrez Gene ID: 54927
• Gene Name: coiled-coil-helix-coiled-coil-helix domain containing 3
• Gene Aliases: MINOS3, Mic19, PPP1R22
• Location: Chr.7:132784862-133082158 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHCHD3	NM_001317177.1			NP_001304106.1
	NM_017812.3			NP_060282.1
	NR_133671.1
	AK000427.1			BAA91157.1
	AK129533.1
	AK310236.1
	AL516679.3
	BC011596.2			AAH11596.1
	BC014839.1			AAH14839.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1032205	Chr.7:132550902 - 133348828 on Build GRCh38	Gain	PLXNA4 MIR6133 EXOC4 FLJ40288 CHCHD3 MIR3654 LOC105375512 LOC100506937
esv2759564	Chr.7:132636931 - 132859723 on Build GRCh38	Gain	PLXNA4 FLJ40288 CHCHD3 LOC100506937

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
inner mitochondrial membrane organization
mitochondrial fusion
cristae formation

Function(s)

transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
protein binding
phosphatase binding
protein complex scaffold