Hs07180443_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31525365 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	DEFB117 DEFB118 DEFB115 DEFB123 HM13 DEFB116 HM13-AS1 DEFB124 COX4I2 DEFB122 LINC00028 DEFB119 LOC107985416 MIR3193 REM1 ID1 DEFB121
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB117 DEFB118 DEFB115 DEFB123 HM13 DEFB116 HM13-AS1 DEFB124 COX4I2 DEFB122 LINC00028 DEFB119 LOC107985416 MIR3193 REM1 ID1 DEFB121
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB117 DEFB118 BCL2L1 CCM2L DEFB123 DEFB116 HM13-AS1 FOXS1 XKR7 MIR3193 REM1 TPX2 ID1 DUSP15 DEFB115 HM13 DEFB124 COX4I2 ABALON DEFB122 LINC00028 PDRG1 DEFB119 LOC107985416 TTLL9 MYLK2 DEFB121
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	LOC107985416 HM13 HM13-AS1
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB117 DEFB118 BCL2L1 DEFB123 HM13 DEFB116 HM13-AS1 DEFB124 COX4I2 DEFB122 LINC00028 DEFB119 LOC107985416 MIR3193 REM1 ID1 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