Hs07183873_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31526768 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	DEFB122 DEFB123 DEFB124 DEFB118 DEFB119 MIR3193 HM13 DEFB117 REM1 DEFB116 DEFB115 COX4I2 HM13-AS1 LOC107985416 DEFB121 LINC00028 ID1
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB122 DEFB123 DEFB124 DEFB118 DEFB119 MIR3193 HM13 DEFB117 REM1 DEFB116 DEFB115 COX4I2 HM13-AS1 LOC107985416 DEFB121 LINC00028 ID1
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB123 XKR7 HM13 DEFB117 DEFB116 LOC107985416 CCM2L DEFB121 LINC00028 DEFB122 BCL2L1 TPX2 DEFB124 FOXS1 DEFB118 PDRG1 MYLK2 ABALON DEFB119 DUSP15 MIR3193 REM1 DEFB115 COX4I2 HM13-AS1 TTLL9 ID1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 LOC107985416 HM13
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB122 BCL2L1 DEFB123 DEFB124 DEFB118 DEFB119 MIR3193 HM13 DEFB117 REM1 DEFB116 COX4I2 HM13-AS1 LOC107985416 DEFB121 LINC00028 ID1

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