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

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