Hs03971065_cn

• Gene Symbol: MAPT
• Assay Reference Genome Location: Chr.17:45908717 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 4137
• Gene Name: microtubule associated protein tau
• Gene Aliases: DDPAC, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU
• Location: Chr.17:45894382-46028334 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAPT	NM_001123066.3			NP_001116538.2
	NM_001123067.3			NP_001116539.1
	NM_001203251.1			NP_001190180.1
	NM_001203252.1			NP_001190181.1
	NM_005910.5			NP_005901.2
	NM_016834.4			NP_058518.1
	NM_016835.4			NP_058519.3
	NM_016841.4			NP_058525.1
	XM_005257362.4			XP_005257419.1
	XM_005257364.4			XP_005257421.1
	XM_005257365.4			XP_005257422.1
	XM_005257366.3			XP_005257423.1
	XM_005257367.4			XP_005257424.1
	XM_005257368.4			XP_005257425.1
	XM_005257369.4			XP_005257426.1
	XM_005257370.4			XP_005257427.1
	XM_005257371.4			XP_005257428.1
	AK095802.1
	AK299658.1
	AK299704.1
	AW161357.1
	BC000558.2			AAH00558.1
	BI552187.1
	DN996935.1
	DR002467.1
	J03778.1			AAA60615.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762433	Chr.17:45496768 - 46710828 on Build GRCh38	Gain+Loss	MAPT SPPL2C NSFP1 LRRC37A2 LOC107987254 LOC105376839 STH KANSL1-AS1 MAPT-AS1 LRRC37A4P LRRC37A MGC57346 KANSL1 NSF CRHR1 LOC107987253 LOC644172 CRHR1-IT1 MGC57346-CRHR1 MAPT-IT1 ARL17A ARL17B
dgv3178n100	Chr.17:45877004 - 46034461 on Build GRCh38	Gain	MAPT-AS1 MAPT KANSL1 STH MAPT-IT1

More Information

Additional Information:

For this assay, SNP(s) [rs114728005] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

microtubule cytoskeleton organization
neuron migration
brain development
female pregnancy
response to nutrient
adult walking behavior
axo-dendritic transport
intrinsic apoptotic signaling pathway in response to oxidative stress
response to organic substance
regulation of autophagy
regulation of microtubule polymerization
positive regulation of microtubule polymerization
negative regulation of intracellular transport
positive regulation of axon extension
mitochondrion transport along microtubule
axon extension
generation of neurons
regulation of microtubule-based movement

Function(s)

structural constituent of cytoskeleton
protein binding
microtubule binding
SH3 domain binding
enzyme binding
protein kinase binding
protein complex binding
apolipoprotein binding
protein phosphatase 2A binding
lipoprotein particle binding