Hs01312109_cn

• Gene Symbol: IDH1
• Assay Reference Genome Location: Chr.2:208253922 on build GRCh38
• Cytoband: 2q34

Target Gene Details

• Entrez Gene ID: 3417
• Gene Name: isocitrate dehydrogenase (NADP(+)) 1, cytosolic
• Gene Aliases: HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD
• Location: Chr.2:208236227-208255143 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IDH1	NM_001282386.1			NP_001269315.1
	NM_001282387.1			NP_001269316.1
	NM_005896.3			NP_005887.2
	AF020038.1			AAD02918.1
	AF113917.1			AAD29284.1
	AK302105.1
	AK312242.1
	AL136702.1			CAB66637.1
	BC012846.1			AAH12846.1
	BC093020.1			AAH93020.1
	BX537411.1			CAD97653.1
	DA707595.1
	DA728868.1
	DR158630.1
	EU794623.1
	FJ224342.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv584297	Chr.2:208155457 - 208452035 on Build GRCh38	Gain	C2orf80 PTH2R IDH1-AS1 CRYGA IDH1 LOC100507443 PIKFYVE
nsv834517	Chr.2:208142073 - 208305545 on Build GRCh38	Loss	C2orf80 CRYGB IDH1-AS1 CRYGA IDH1 LOC100507443 PIKFYVE

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

glyoxylate cycle
tricarboxylic acid cycle
isocitrate metabolic process
2-oxoglutarate metabolic process
NADPH regeneration
glutathione metabolic process
response to oxidative stress
female gonad development
response to steroid hormone
regulation of phospholipid catabolic process
regulation of phospholipid biosynthetic process
cell-cell adhesion

Function(s)

magnesium ion binding
isocitrate dehydrogenase (NADP+) activity
receptor binding
protein homodimerization activity
NADP binding
NAD binding
(R)-2-hydroxyglutarate dehydrogenase activity
cadherin binding involved in cell-cell adhesion