Hs07199099_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31522675 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	REM1 DEFB121 COX4I2 LINC00028 HM13 DEFB123 DEFB117 DEFB116 ID1 DEFB118 DEFB122 MIR3193 DEFB115 HM13-AS1 LOC107985416 DEFB124 DEFB119
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	REM1 DEFB121 COX4I2 LINC00028 HM13 DEFB123 DEFB117 DEFB116 ID1 DEFB118 DEFB122 MIR3193 DEFB115 HM13-AS1 LOC107985416 DEFB124 DEFB119
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TTLL9 DEFB121 COX4I2 LINC00028 HM13 DEFB117 ABALON DEFB118 DEFB122 MIR3193 DEFB115 CCM2L XKR7 PDRG1 HM13-AS1 LOC107985416 DEFB124 DEFB119 REM1 BCL2L1 DEFB123 DUSP15 DEFB116 MYLK2 ID1 TPX2 FOXS1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 HM13 LOC107985416
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	REM1 DEFB121 COX4I2 LINC00028 BCL2L1 HM13 DEFB123 DEFB117 DEFB116 ID1 DEFB118 DEFB122 MIR3193 HM13-AS1 LOC107985416 DEFB124 DEFB119

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