Hs00567072_cn

• Gene Symbol: AARSD1
• Assay Reference Genome Location: Chr.17:42955173 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 80755
• Gene Name: alanyl-tRNA synthetase domain containing 1
• Gene Aliases: -
• Location: Chr.17:42950526-42964498 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AARSD1	NM_001261434.1			NP_001248363.1
	AL515977.3
	AW296090.1

Target Gene Details

• Entrez Gene ID: 100885850
• Gene Name: PTGES3L-AARSD1 readthrough
• Gene Aliases: -
• Location: Chr.17:42950526-42980528 on Build GRCh38
• Assay Gene Location: Overlaps Intron 14 - Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTGES3L-AARSD1	NM_001136042.2			NP_001129514.2
	NM_025267.3			NP_079543.1
	AF039235.1
	AI312767.1
	AK094084.1
	AK295447.1
	BC004172.2			AAH04172.1
	BC019324.1			AAH19324.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2057	Chr.17:42946856 - 42980330 on Build GRCh38	Insertion	AARSD1 PTGES3L-AARSD1 PTGES3L
esv3640616	Chr.17:42940234 - 42955314 on Build GRCh38	Gain	AARSD1 PTGES3L-AARSD1
nsv457742	Chr.17:42907778 - 43019464 on Build GRCh38	Loss	RUNDC1 AARSD1 G6PC PTGES3L-AARSD1 PTGES3L IFI35 VAT1 RPL27
nsv483009	Chr.17:42829470 - 43006887 on Build GRCh38	Gain	LINC00671 RUNDC1 AARSD1 G6PC AOC4P AOC3 PTGES3L-AARSD1 PTGES3L IFI35 AOC2 RPL27 PSME3

More Information

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

Panther Classification:

Molecular Function -

RNA metabolism protein

Gene Ontology Categories:

Process(es)

alanyl-tRNA aminoacylation
regulation of translational fidelity
biological_process

Function(s)

tRNA binding
Ser-tRNA(Ala) hydrolase activity
molecular_function
alanine-tRNA ligase activity
ATP binding
metal ion binding