Hs01540784_cn

• Gene Symbol: ACO2
• Assay Reference Genome Location: Chr.22:41525825 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 50
• Gene Name: aconitase 2
• Gene Aliases: ACONM, HEL-S-284, ICRD, OCA8, OPA9
• Location: Chr.22:41469125-41528989 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACO2	NM_001098.2			NP_001089.1
	XM_017028812.1			XP_016884301.1
	AK293562.1
	AK296260.1
	AK297213.1
	AK301321.1
	AK302691.1
	AK314845.1
	BC014092.2			AAH14092.1
	BC026196.2			AAH26196.1
	CR456365.1			CAG30251.1
	CR536568.1			CAG38805.1
	GQ472196.1
	U80040.1			AAB38416.1

Target Gene Details

• Entrez Gene ID: 171568
• Gene Name: RNA polymerase III subunit H
• Gene Aliases: RPC22.9, RPC8
• Location: Chr.22:41525799-41544606 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLR3H	NM_001018050.3			NP_001018060.1
	NM_001018052.3			NP_001018062.1
	NM_001282884.1			NP_001269813.1
	NM_001282885.1			NP_001269814.1
	NM_138338.4			NP_612211.1
	AB051452.1
	AK000365.1
	AK026524.1
	BM681267.1
	BM701572.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516925	Chr.22:41252498 - 41585953 on Build GRCh38	Loss	CSDC2 ZC3H7B ACO2 RANGAP1 POLR3H TOB2 PMM1 LOC100996598 PHF5A MIR6889 LOC105373044 TEF
nsv834208	Chr.22:41363612 - 41554028 on Build GRCh38	Loss	ACO2 POLR3H TOB2 LOC100996598 PHF5A LOC105373044 TEF
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	MEI1 ACO2 CHADL RANGAP1 PMM1 LOC100996598 XRCC6 PHF5A MIR6889 SNU13 TEF SNORD140 MIR1281 CSDC2 ZC3H7B EP300-AS1 POLR3H L3MBTL2 TOB2 EP300 LOC105373044 C22orf46 DESI1
esv3647799	Chr.22:41511654 - 41543254 on Build GRCh38	Gain	ACO2 POLR3H

More Information

Additional Information:

For this assay, SNP(s) [rs138734297] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

hydratase, DNA-directed RNA polymerase

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
tricarboxylic acid cycle
citrate metabolic process
isocitrate metabolic process
nucleobase-containing compound metabolic process
transcription from RNA polymerase III promoter
transcription initiation from RNA polymerase III promoter
positive regulation of type I interferon production
innate immune response
defense response to virus

Function(s)

aconitate hydratase activity
iron ion binding
3 iron, 4 sulfur cluster binding
4 iron, 4 sulfur cluster binding
RNA polymerase III activity
DNA binding
DNA-directed RNA polymerase activity