Hs00323264_cn

• Gene Symbol: HM13
• Assay Reference Genome Location: Chr.20:31569306 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	1363	NP_110416.1
	NM_178580.2	13	1566	NP_848695.1
	NM_178581.2	13	1510	NP_848696.1
	AF172086.1	12	1311	AAQ13609.1
	AF483215.1	12	1309	AAM22076.1
	AJ345029.1	12	1306	CAC87790.1
	AJ420895.1			CAD13132.1
	AK075283.1	12	1323	BAC11519.1
	AY169310.1	13	1523	AAO12535.1
	AY169311.1	12	1320	AAO12536.1
	AY169312.1	13	1467	AAO12537.1
	BC008938.2	12	1334	AAH08938.1
	BC008959.2	12	1334	AAH08959.1
	BC062595.1	12	1314	AAH62595.1
	DQ168450.1	13	1518

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	COX4I2 DEFB115 ID1 DEFB117 DEFB119 HM13 DEFB124 REM1 LOC107985416 DEFB123 MIR3193 DEFB122 DEFB116 DEFB118 LINC00028 DEFB121 HM13-AS1
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	TTLL9 DEFB119 MYLK2 LOC107985416 DEFB123 MIR3193 DEFB116 PDRG1 DEFB118 FOXS1 DUSP15 XKR7 COX4I2 DEFB115 ID1 DEFB117 TPX2 HM13 DEFB124 REM1 DEFB122 BCL2L1 LINC00028 DEFB121 HM13-AS1 ABALON CCM2L
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	COX4I2 DEFB115 ID1 DEFB117 DEFB119 HM13 DEFB124 REM1 LOC107985416 DEFB123 MIR3193 DEFB122 DEFB116 DEFB118 LINC00028 DEFB121 HM13-AS1
esv3645652	Chr.20:31500710 - 31576564 on Build GRCh38	Gain	LOC107985416 HM13-AS1 HM13
nsv3345	Chr.20:31549053 - 31593946 on Build GRCh38	Deletion	LOC107985416 HM13-AS1 HM13
nsv585911	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	COX4I2 ID1 DEFB117 DEFB119 HM13 DEFB124 REM1 LOC107985416 DEFB123 MIR3193 DEFB122 BCL2L1 DEFB116 DEFB118 LINC00028 DEFB121 HM13-AS1

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