Hs01448032_cn

• Gene Symbol: MAPT-AS1
• Assay Reference Genome Location: Chr.17:45845999 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 100128977
• Gene Name: MAPT antisense RNA 1
• Gene Aliases: -
• Location: Chr.17:45843356-45895513 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAPT-AS1	NR_024559.1
	AW770488.1

Target Gene Details

• Entrez Gene ID: 162540
• Gene Name: signal peptide peptidase like 2C
• Gene Aliases: IMP5
• Location: Chr.17:45844890-45847072 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPPL2C	NM_175882.2	1	1110	NP_787078.2
	BC022041.1	1	1112	AAH22041.2
	BC025401.1	1	1115	AAH25401.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv522515	Chr.17:45845814 - 45846317 on Build GRCh38	Loss	SPPL2C MAPT-AS1
esv2762433	Chr.17:45496768 - 46710828 on Build GRCh38	Gain+Loss	LOC105376839 MAPT CRHR1 STH LRRC37A MGC57346 MAPT-IT1 LRRC37A2 KANSL1-AS1 LOC644172 MAPT-AS1 LRRC37A4P NSF LOC107987253 MGC57346-CRHR1 ARL17B ARL17A LOC107987254 KANSL1 NSFP1 SPPL2C CRHR1-IT1
nsv953909	Chr.17:45842635 - 45848734 on Build GRCh38	Deletion	SPPL2C MAPT-AS1
nsv833460	Chr.17:45798585 - 45893131 on Build GRCh38	Loss	MGC57346-CRHR1 CRHR1 SPPL2C MAPT-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

Function(s)

aspartic endopeptidase activity, intramembrane cleaving
protein homodimerization activity