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PAX6-AS1 PAX6 antisense RNA 1 [ Homo sapiens (human) ]

Gene ID: 440034, updated on 10-Oct-2023

Summary

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Official Symbol
PAX6-AS1provided by HGNC
Official Full Name
PAX6 antisense RNA 1provided by HGNC
Primary source
HGNC:HGNC:53448
See related
Ensembl:ENSG00000281880 AllianceGenome:HGNC:53448
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DKFZp686K1684
Expression
Low expression observed in reference dataset See more
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Genomic context

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Location:
11p13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (31816566..31887041)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (31952371..32022812)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31838114..31908587)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene MPRA-validated peak1238 silencer Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene MPRA-validated peak1240 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:31531307-31532196 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31565420-31566029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31566030-31566638 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4558 Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene E60 enhancer downstream of PAX6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31814755-31814968 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:31827075-31827744 Neighboring gene PAX6 upstream regulatory region Neighboring gene paired box 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3219 Neighboring gene VISTA enhancer hs1531 Neighboring gene PAX6 upstream antisense RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31960853-31961050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4560 Neighboring gene VISTA enhancer hs855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:32008494-32008994 Neighboring gene uncharacterized LOC107984420 Neighboring gene uncharacterized LOC124902657

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Meta-analysis identifies common variants associated with body mass index in east Asians. Wen W, et al. Nat Genet, 2012 Feb 19. PMID 22344219, Free PMC Article
  2. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
Meta-analysis identifies common variants associated with body mass index in east Asians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Potential readthrough

Included gene: RCN1

Clone Names

  • FLJ55835

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.

RNA

  1. NR_033971.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BX648962
    Related
    ENST00000506388.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    31816566..31887041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    31952371..32022812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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