Hs01967592_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31569467 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 Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HM13	NM_030789.3	12	1524	NP_110416.1
	NM_178580.2	13	1727	NP_848695.1
	NM_178581.2	13	1671	NP_848696.1
	AF172086.1	12	1472	AAQ13609.1
	AF483215.1	12	1470	AAM22076.1
	AJ345029.1	12	1467	CAC87790.1
	AK075283.1	12	1484	BAC11519.1
	AY169310.1	13	1684	AAO12535.1
	AY169311.1	12	1481	AAO12536.1
	AY169312.1	13	1628	AAO12537.1
	BC008938.2	12	1495	AAH08938.1
	BC008959.2	12	1495	AAH08959.1
	BC062595.1	12	1475	AAH62595.1
	DQ168450.1	13	1679

Target Gene Details

• Entrez Gene ID: 100874042
• Gene Name: HM13 antisense RNA 1
• Gene Aliases: -
• Location: Chr.20:31567587-31573263 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HM13-AS1	NR_046853.2
	AJ710081.1

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	DEFB116 DEFB115 DEFB118 HM13-AS1 MIR3193 DEFB117 COX4I2 HM13 REM1 LOC107985416 DEFB122 LINC00028 DEFB119 DEFB124 DEFB121 ID1 DEFB123
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB116 DEFB115 DEFB118 HM13-AS1 MIR3193 DEFB117 COX4I2 HM13 REM1 LOC107985416 DEFB122 LINC00028 DEFB119 DEFB124 DEFB121 ID1 DEFB123
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	DEFB116 HM13-AS1 DEFB117 FOXS1 COX4I2 REM1 BCL2L1 DEFB122 CCM2L LINC00028 PDRG1 DEFB121 DEFB115 ABALON DUSP15 DEFB118 MIR3193 MYLK2 HM13 LOC107985416 TPX2 DEFB119 XKR7 DEFB124 ID1 DEFB123 TTLL9
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	HM13-AS1 HM13 LOC107985416
nsv3345	Chr.20:31549053 - 31593946 on Build GRCh38	Deletion	HM13-AS1 HM13 LOC107985416
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB116 DEFB118 HM13-AS1 MIR3193 DEFB117 COX4I2 HM13 REM1 BCL2L1 LOC107985416 DEFB122 LINC00028 DEFB119 DEFB124 DEFB121 ID1 DEFB123

More Information

• Set Membership: Intragenic, Exonic, 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