Hs07177047_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31517253 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	DEFB123 DEFB122 DEFB118 HM13 DEFB124 ID1 DEFB116 COX4I2 REM1 MIR3193 LINC00028 HM13-AS1 LOC107985416 DEFB121 DEFB117 DEFB115 DEFB119
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	PDRG1 DEFB118 HM13 DEFB124 CCM2L DEFB116 BCL2L1 REM1 HM13-AS1 LOC107985416 DEFB117 ABALON TTLL9 DEFB123 MYLK2 DEFB122 XKR7 TPX2 ID1 COX4I2 MIR3193 LINC00028 DEFB121 FOXS1 DUSP15 DEFB115 DEFB119
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB123 DEFB122 DEFB118 HM13 DEFB124 ID1 DEFB116 COX4I2 REM1 MIR3193 LINC00028 HM13-AS1 LOC107985416 DEFB121 DEFB117 DEFB115 DEFB119
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 LOC107985416 HM13
nsv585911	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB123 DEFB122 DEFB118 HM13 DEFB124 ID1 DEFB116 COX4I2 BCL2L1 REM1 MIR3193 LINC00028 HM13-AS1 LOC107985416 DEFB121 DEFB117 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