Hs07167029_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31535525 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 2

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
	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	DEFB122 DEFB124 COX4I2 HM13-AS1 DEFB117 DEFB119 LINC00028 DEFB116 DEFB115 HM13 DEFB123 LOC107985416 ID1 DEFB118 DEFB121 MIR3193 REM1
esv3645653	Chr.20:31535328 - 31555299 on Build GRCh38	Gain	HM13
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB122 DEFB124 COX4I2 DEFB117 DEFB119 CCM2L LINC00028 TPX2 DEFB115 PDRG1 LOC107985416 DEFB121 MIR3193 XKR7 REM1 HM13-AS1 BCL2L1 DEFB116 TTLL9 HM13 DEFB123 FOXS1 ID1 DEFB118 MYLK2 DUSP15 ABALON
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB122 DEFB124 COX4I2 HM13-AS1 DEFB117 DEFB119 LINC00028 DEFB116 DEFB115 HM13 DEFB123 LOC107985416 ID1 DEFB118 DEFB121 MIR3193 REM1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 HM13 LOC107985416
nsv585911	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB122 DEFB124 COX4I2 HM13-AS1 DEFB117 DEFB119 BCL2L1 LINC00028 DEFB116 HM13 DEFB123 LOC107985416 ID1 DEFB118 DEFB121 MIR3193 REM1

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