Hs07222776_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31522126 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 81502
• Gene Name: histocompatibility minor 13
• Gene Aliases: H13, IMP1, IMPAS, IMPAS-1, MSTP086, PSENL3, PSL3, SPP, SPPL1
• Location: Chr.20:31514410-31569567 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HM13	NM_030789.3			NP_110416.1
	NM_178580.2			NP_848695.1
	NM_178581.2			NP_848696.1
	NM_178582.2			NP_848697.1
	AF172086.1			AAQ13609.1
	AF483215.1			AAM22076.1
	AF515663.1			AAN77099.1
	AJ345029.1			CAC87790.1
	AJ420895.1			CAD13132.1
	AK074686.1			BAC11138.1
	AK075283.1			BAC11519.1
	AK314410.1
	AY169310.1			AAO12535.1
	AY169311.1			AAO12536.1
	AY169312.1			AAO12537.1
	BC008938.2			AAH08938.1
	BC008959.2			AAH08959.1
	BC062595.1			AAH62595.1
	BI192962.1
	BI552780.1
	DA087240.1
	DQ168450.1
	HY026569.1
	KU178790.1
	KU178791.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470546	Chr.20:31245806 - 31647499 on Build GRCh38	Gain	COX4I2 DEFB124 DEFB117 REM1 DEFB123 DEFB122 LINC00028 MIR3193 ID1 DEFB115 DEFB118 LOC107985416 DEFB119 DEFB116 HM13-AS1 HM13 DEFB121
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	COX4I2 DEFB124 DEFB117 REM1 DEFB123 DEFB122 LINC00028 MIR3193 ID1 DEFB115 DEFB118 LOC107985416 DEFB119 DEFB116 HM13-AS1 HM13 DEFB121
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TTLL9 PDRG1 DEFB124 DEFB117 REM1 DEFB123 CCM2L DEFB115 MYLK2 DUSP15 TPX2 LOC107985416 ABALON XKR7 HM13 DEFB121 COX4I2 DEFB122 LINC00028 MIR3193 ID1 BCL2L1 DEFB118 FOXS1 DEFB119 DEFB116 HM13-AS1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	LOC107985416 HM13-AS1 HM13
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	COX4I2 DEFB124 DEFB117 REM1 DEFB123 DEFB122 LINC00028 MIR3193 ID1 BCL2L1 DEFB118 LOC107985416 DEFB119 DEFB116 HM13-AS1 HM13 DEFB121

More Information

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

Panther Classification:

Molecular Function -

aspartic protease

Gene Ontology Categories:

Process(es)

signal peptide processing
membrane protein ectodomain proteolysis
membrane protein intracellular domain proteolysis
membrane protein proteolysis
protein homotetramerization
membrane protein proteolysis involved in retrograde protein transport, ER to cytosol

Function(s)

protein binding
peptidase activity
ubiquitin protein ligase binding
aspartic endopeptidase activity, intramembrane cleaving
protein homodimerization activity