Hs07191271_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31517911 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	DEFB124 DEFB119 DEFB123 MIR3193 DEFB115 DEFB117 DEFB116 ID1 HM13 REM1 HM13-AS1 DEFB122 COX4I2 DEFB118 LOC107985416 LINC00028 DEFB121
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB124 PDRG1 DEFB119 DEFB123 MYLK2 MIR3193 DEFB115 DEFB116 ID1 BCL2L1 REM1 HM13-AS1 COX4I2 DEFB118 LINC00028 TPX2 XKR7 DEFB117 HM13 DUSP15 DEFB122 CCM2L TTLL9 LOC107985416 ABALON FOXS1 DEFB121
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB124 DEFB119 DEFB123 MIR3193 DEFB115 DEFB117 DEFB116 ID1 HM13 REM1 HM13-AS1 DEFB122 COX4I2 DEFB118 LOC107985416 LINC00028 DEFB121
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	LOC107985416 HM13 HM13-AS1
nsv585911	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB124 DEFB119 DEFB123 MIR3193 DEFB117 DEFB116 ID1 HM13 BCL2L1 REM1 HM13-AS1 DEFB122 COX4I2 DEFB118 LOC107985416 LINC00028 DEFB121

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