Hs07174235_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31523860 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	DEFB116 DEFB121 DEFB117 DEFB118 REM1 LINC00028 DEFB119 DEFB115 MIR3193 HM13-AS1 HM13 DEFB123 DEFB124 DEFB122 LOC107985416 ID1 COX4I2
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB116 DEFB121 DEFB117 DEFB118 REM1 LINC00028 DEFB119 DEFB115 MIR3193 HM13-AS1 HM13 DEFB123 DEFB124 DEFB122 LOC107985416 ID1 COX4I2
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB118 REM1 PDRG1 MYLK2 DEFB119 MIR3193 HM13 DEFB123 ABALON BCL2L1 DEFB122 ID1 XKR7 DEFB116 DEFB121 DEFB117 LINC00028 DEFB115 TPX2 CCM2L HM13-AS1 DUSP15 TTLL9 DEFB124 LOC107985416 FOXS1 COX4I2
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 HM13 LOC107985416
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB116 DEFB121 DEFB117 DEFB118 REM1 LINC00028 DEFB119 MIR3193 HM13-AS1 HM13 DEFB123 BCL2L1 DEFB124 DEFB122 LOC107985416 ID1 COX4I2

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