MAPT-AS1 MAPT antisense RNA 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPT-AS1provided by HGNC
Official Full Name: MAPT antisense RNA 1provided by HGNC
Primary source: HGNC:HGNC:43738
See related: AllianceGenome:HGNC:43738
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Implicated in Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 1.4), testis (RPKM 0.7) and 2 other tissues See more
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Genomic context

Location:: 17q21.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (45843356..45895513, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (46704980..46757136, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (43920722..43972879, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Title: MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
the level of MAPT-AS1 was correlated with the expression of MAPT, and MAPT was associated with survival time in breast cancer.
Title: Overexpression of MAPT-AS1 is associated with better patient survival in breast cancer.
MAPT-AS1 and DNMT1 have been identified as potential epigenetic regulators of MAPT expression in PD across four different brain regions. Our data also suggest that increased MAPT expression could be associated with disease state, but not with PD neuropathology severity.
Title: Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D17S1380E (e-PCR)
- UniSTS:150438

D17S1668 (e-PCR)
- UniSTS:28641

Other Names

MAPT antisense RNA 1 (non-protein coding)

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulatory ncRNA-mediated gene silencing	IMP Inferred from Mutant Phenotype more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.