Hs01382307_cn

• Gene Symbol: DLAT
• Assay Reference Genome Location: Chr.11:112061113 on build GRCh38
• Cytoband: 11q23.1

Target Gene Details

• Entrez Gene ID: 1737
• Gene Name: dihydrolipoamide S-acetyltransferase
• Gene Aliases: DLTA, PDC-E2, PDCE2
• Location: Chr.11:112024814-112064278 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLAT	NM_001931.4	13	2412	NP_001922.2
	XM_011542647.2	12	1951	XP_011540949.1
	AK057299.1	13	2412
	AK223596.1	13	1801	BAD97316.1
	AK296274.1	13	1691
	AK297103.1	10	1158
	AK299562.1	11	1249
	AL832703.1	13	1783
	BC039084.1	13	1781	AAH39084.1
	Y00978.1	13	1657	CAA68787.1

Target Gene Details

• Entrez Gene ID: 120379
• Gene Name: PIH1 domain containing 2
• Gene Aliases: -
• Location: Chr.11:112052161-112074288 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D2	XM_017017202.1			XP_016872691.1
	XM_017017203.1			XP_016872692.1
	XM_017017204.1			XP_016872693.1
	XM_017017205.1			XP_016872694.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2745077	Chr.11:111949712 - 112188677 on Build GRCh38	Deletion	C11orf57 PIH1D2 DLAT TEX12 SDHD TIMM8B DIXDC1 IL18 BCO2

More Information

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

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

glucose metabolic process
acetyl-CoA biosynthetic process from pyruvate
pyruvate metabolic process
tricarboxylic acid cycle
regulation of acetyl-CoA biosynthetic process from pyruvate
sleep
glyoxylate metabolic process

Function(s)

dihydrolipoyllysine-residue acetyltransferase activity
protein binding
pyruvate dehydrogenase (NAD+) activity
Ral GTPase binding