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	DEFB122 DEFB115 LINC00028 HM13 HM13-AS1 DEFB117 REM1 DEFB116 ID1 MIR3193 DEFB119 DEFB123 DEFB118 DEFB124 LOC107985416 DEFB121 COX4I2
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	PDRG1 DEFB115 HM13 REM1 DEFB116 BCL2L1 TPX2 MIR3193 DEFB119 DEFB123 DEFB118 DEFB124 DEFB121 ABALON DEFB122 FOXS1 TTLL9 CCM2L LINC00028 MYLK2 HM13-AS1 DEFB117 DUSP15 ID1 XKR7 LOC107985416 COX4I2
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB122 DEFB115 LINC00028 HM13 HM13-AS1 DEFB117 REM1 DEFB116 ID1 MIR3193 DEFB119 DEFB123 DEFB118 DEFB124 LOC107985416 DEFB121 COX4I2
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13 HM13-AS1 LOC107985416
nsv585911	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB122 LINC00028 HM13 HM13-AS1 DEFB117 REM1 DEFB116 ID1 BCL2L1 MIR3193 DEFB119 DEFB123 DEFB118 DEFB124 LOC107985416 DEFB121 COX4I2

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