Hs02628230_cn

• Gene Symbol: HYI
• Assay Reference Genome Location: Chr.1:43454206 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HYI	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

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: Overlaps - Exon 75

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SZT2	NM_015284.3			NP_056099.3
	BU633294.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv950702	Chr.1:43454030 - 43457429 on Build GRCh38	Duplication	HYI SZT2
nsv438377	Chr.1:43451738 - 43468018 on Build GRCh38	Loss	HYI SZT2

More Information

• Set Membership: Intragenic, Non-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