Hs01731063_cn

• Gene Symbol: HYI
• Assay Reference Genome Location: Chr.1:43451165 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 81888
• Gene Name: hydroxypyruvate isomerase (putative)
• Gene Aliases: HT036
• Location: Chr.1:43450607-43454241 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HYI	NM_001190880.2	8	1103	NP_001177809.1
	NM_001243526.1	9	1160	NP_001230455.1
	NM_031207.5	8	1085	NP_112484.3
	XM_005271239.4			XP_005271296.1
	XM_005271240.4			XP_005271297.1
	XM_006710937.3			XP_006711000.1
	XM_011542222.2			XP_011540524.1
	AF284750.1			AAG59852.1
	AF284751.1			AAG59853.1
	AI023272.1	1	167
	AK096244.1
	AY037165.1			AAK67642.1
	AY775560.1			AAV84474.1
	BC006140.1			AAH06140.1
	BC019041.2			AAH19041.1
	CA433653.1
	CD672533.1
	JF911821.1

Target Gene Details

• Entrez Gene ID: 23334
• Gene Name: seizure threshold 2 homolog (mouse)
• Gene Aliases: C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B
• Location: Chr.1:43389884-43454247 on Build GRCh38
• Assay Gene Location: Within Exon 75

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SZT2	NM_015284.3	71	10897	NP_056099.3
	XM_005270686.3			XP_005270743.1
	XM_006710501.3			XP_006710564.1
	XM_011541106.2			XP_011539408.1
	XM_011541107.2			XP_011539409.1
	XM_017000819.1			XP_016856308.1
	XM_017000820.1			XP_016856309.1
	XM_017000821.1			XP_016856310.1
	AB007936.2	57	8749	BAA32312.2
	AK001249.2
	AK027078.1			BAB15649.1
	AK126972.1	10	2799	BAC86771.1
	AL117402.1			CAB55903.1
	BC041069.1
	BC052802.1			AAH52802.1
	BC082968.1			AAH82968.1
	BC151232.1	57	8749

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527798	Chr.1:43446919 - 43451738 on Build GRCh38	Loss	HYI SZT2 MIR6735
nsv546128	Chr.1:43301467 - 43451738 on Build GRCh38	Loss	MIR6734 HYI TIE1 ELOVL1 SZT2 MIR6735 CDC20 MPL MED8
nsv950701	Chr.1:43418430 - 43453929 on Build GRCh38	Deletion	HYI SZT2 MIR6735

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

biological_process
central nervous system development
post-embryonic development
corpus callosum morphogenesis
pigmentation
regulation of superoxide dismutase activity

Function(s)

molecular_function
protein binding
hydroxypyruvate isomerase activity