Hs00747990_cn

• Gene Symbol: HYI
• Assay Reference Genome Location: Chr.1:43451846 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 Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HYI	NM_001190880.2			NP_001177809.1
	NM_001243526.1			NP_001230455.1
	NM_031207.5			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
	AK096244.1
	AY037165.1			AAK67642.1
	AY775560.1			AAV84474.1
	BC006140.1			AAH06140.1
	BC019041.2			AAH19041.1
	BM826556.1
	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	11578	NP_056099.3
	AB007936.2	57	9430	BAA32312.2
	AK126972.1	10	3480	BAC86771.1
	BC151232.1	57	9430

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv438377	Chr.1:43451738 - 43468018 on Build GRCh38	Loss	SZT2 HYI
nsv950701	Chr.1:43418430 - 43453929 on Build GRCh38	Deletion	SZT2 MIR6735 HYI

More Information

• Set Membership: Intragenic, Exonic, 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