Hs07180520_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31518943 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	DEFB119 MIR3193 LOC107985416 DEFB116 DEFB117 DEFB123 DEFB118 HM13 REM1 DEFB115 LINC00028 DEFB122 COX4I2 DEFB121 ID1 HM13-AS1 DEFB124
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB119 MIR3193 LOC107985416 DEFB116 DEFB117 DEFB123 DEFB118 HM13 REM1 DEFB115 LINC00028 DEFB122 COX4I2 DEFB121 ID1 HM13-AS1 DEFB124
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	MIR3193 ABALON TTLL9 DUSP15 MYLK2 DEFB117 PDRG1 DEFB123 DEFB118 REM1 DEFB115 DEFB122 COX4I2 TPX2 BCL2L1 DEFB121 ID1 CCM2L DEFB124 DEFB119 LOC107985416 DEFB116 HM13 XKR7 LINC00028 HM13-AS1 FOXS1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13 LOC107985416 HM13-AS1
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB119 MIR3193 LOC107985416 DEFB116 DEFB117 DEFB123 DEFB118 HM13 REM1 LINC00028 DEFB122 COX4I2 BCL2L1 DEFB121 ID1 HM13-AS1 DEFB124

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