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	REM1 HM13-AS1 MIR3193 COX4I2 LINC00028 ID1 DEFB122 DEFB117 DEFB124 DEFB116 DEFB115 DEFB121 DEFB119 LOC107985416 DEFB123 DEFB118 HM13
esv3645653	Chr.20:31535328 - 31555299 on Build GRCh38	Gain	HM13
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	REM1 HM13-AS1 MIR3193 COX4I2 LINC00028 ID1 DEFB122 DEFB117 DEFB124 DEFB116 DEFB115 DEFB121 DEFB119 LOC107985416 DEFB123 DEFB118 HM13
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	REM1 HM13-AS1 BCL2L1 TTLL9 MYLK2 DEFB122 DEFB124 LOC107985416 PDRG1 FOXS1 MIR3193 COX4I2 LINC00028 TPX2 ID1 DEFB117 CCM2L DEFB116 DEFB115 XKR7 DUSP15 DEFB121 DEFB119 ABALON DEFB123 DEFB118 HM13
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 LOC107985416 HM13
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	REM1 HM13-AS1 MIR3193 COX4I2 LINC00028 BCL2L1 ID1 DEFB122 DEFB117 DEFB124 DEFB116 DEFB121 DEFB119 LOC107985416 DEFB123 DEFB118 HM13

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