Hs07163337_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31542257 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 3

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
	AF172086.1			AAQ13609.1
	AF483215.1			AAM22076.1
	AF515663.1			AAN77099.1
	AJ345029.1			CAC87790.1
	AJ420895.1			CAD13132.1
	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
	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	MIR3193 DEFB116 LOC107985416 REM1 DEFB117 DEFB123 LINC00028 DEFB121 ID1 DEFB118 DEFB124 DEFB122 DEFB119 COX4I2 HM13-AS1 HM13 DEFB115
esv3645653	Chr.20:31535328 - 31555299 on Build GRCh38	Gain	HM13
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	MIR3193 DEFB116 LOC107985416 REM1 DEFB117 DEFB123 LINC00028 DEFB121 ID1 DEFB118 DEFB124 DEFB122 DEFB119 COX4I2 HM13-AS1 HM13 DEFB115
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB116 LOC107985416 REM1 MYLK2 DEFB118 XKR7 DEFB124 DEFB119 HM13 DEFB115 FOXS1 TTLL9 MIR3193 DEFB117 DUSP15 DEFB123 LINC00028 CCM2L DEFB121 PDRG1 ID1 BCL2L1 ABALON DEFB122 COX4I2 TPX2 HM13-AS1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	LOC107985416 HM13-AS1 HM13
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	MIR3193 DEFB116 LOC107985416 REM1 DEFB117 DEFB123 LINC00028 DEFB121 ID1 BCL2L1 DEFB118 DEFB124 DEFB122 DEFB119 COX4I2 HM13-AS1 HM13

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