Hs01424626_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31527500 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: Overlaps Intron 1 - Exon 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
	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	HM13-AS1 DEFB117 DEFB123 DEFB121 REM1 LINC00028 DEFB116 LOC107985416 DEFB122 COX4I2 DEFB124 HM13 DEFB115 MIR3193 DEFB119 DEFB118 ID1
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	HM13-AS1 DEFB117 DEFB123 DEFB121 REM1 LINC00028 DEFB116 LOC107985416 DEFB122 COX4I2 DEFB124 HM13 DEFB115 MIR3193 DEFB119 DEFB118 ID1
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TTLL9 PDRG1 DEFB123 DEFB121 LINC00028 MYLK2 DEFB122 FOXS1 COX4I2 HM13 DEFB115 ABALON XKR7 DEFB119 ID1 HM13-AS1 DEFB117 TPX2 REM1 DEFB116 LOC107985416 CCM2L DEFB124 MIR3193 DUSP15 DEFB118 BCL2L1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 HM13 LOC107985416
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	HM13-AS1 DEFB117 DEFB123 DEFB121 REM1 LINC00028 DEFB116 LOC107985416 DEFB122 COX4I2 DEFB124 HM13 MIR3193 DEFB119 DEFB118 ID1 BCL2L1

More Information

• Set Membership: Intragenic, 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