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