Hs01914680_cn

• Gene Symbol: HYI
• Assay Reference Genome Location: Chr.1:43450602 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 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HYI	XM_006710937.3			XP_006711000.1

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	10334	NP_056099.3
	XM_005270686.3	73	10566	XP_005270743.1
	XM_006710501.3	72	10453	XP_006710564.1
	XM_011541106.2	72	10604	XP_011539408.1
	XM_011541107.2	69	10101	XP_011539409.1
	XM_017000819.1	73	10413	XP_016856308.1
	XM_017000820.1	72	10395	XP_016856309.1
	XM_017000821.1	69	10087	XP_016856310.1
	AB007936.2	57	8186	BAA32312.2
	AK001249.2	6	1145
	AK027078.1	12	1879	BAB15649.1
	AK126972.1	10	2236	BAC86771.1
	AL117402.1	6	1128	CAB55903.1
	BC041069.1	13	2015
	BC052802.1	14	2029	AAH52802.1
	BC082968.1	14	2034	AAH82968.1
	BC151232.1	57	8186

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 MIR6735 SZT2
nsv546128	Chr.1:43301467 - 43451738 on Build GRCh38	Loss	TIE1 HYI MIR6735 MED8 CDC20 MIR6734 SZT2 MPL ELOVL1
nsv950701	Chr.1:43418430 - 43453929 on Build GRCh38	Deletion	HYI MIR6735 SZT2

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