Hs07212085_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31541074 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 3

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
	AF172086.1			AAQ13609.1
	AF483215.1			AAM22076.1
	AF515663.1			AAN77099.1
	AJ345029.1			CAC87790.1
	AJ420895.1			CAD13132.1
	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	HM13 DEFB115 REM1 DEFB121 DEFB118 ID1 DEFB124 DEFB117 MIR3193 DEFB123 DEFB116 HM13-AS1 DEFB122 DEFB119 LINC00028 LOC107985416 COX4I2
esv3645653	Chr.20:31535328 - 31555299 on Build GRCh38	Gain	HM13
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	HM13 DEFB115 REM1 DEFB121 DEFB118 ID1 DEFB124 DEFB117 MIR3193 DEFB123 DEFB116 HM13-AS1 DEFB122 DEFB119 LINC00028 LOC107985416 COX4I2
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	HM13 DEFB115 DEFB121 DEFB118 DUSP15 ABALON DEFB117 DEFB116 LINC00028 FOXS1 TPX2 REM1 PDRG1 ID1 MYLK2 DEFB124 CCM2L MIR3193 TTLL9 DEFB123 HM13-AS1 DEFB122 XKR7 DEFB119 BCL2L1 LOC107985416 COX4I2
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13 HM13-AS1 LOC107985416
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	HM13 REM1 DEFB121 DEFB118 ID1 DEFB124 DEFB117 MIR3193 DEFB123 DEFB116 HM13-AS1 DEFB122 DEFB119 LINC00028 BCL2L1 LOC107985416 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