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LOC130055525 ATAC-STARR-seq lymphoblastoid active region 8300 [ Homo sapiens (human) ]

Gene ID: 130055525, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130055525
Gene description
ATAC-STARR-seq lymphoblastoid active region 8300
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC130055525 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (45144854..45144913)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (39336866..39336925)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45614057..45614116)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 39 Neighboring gene small nucleolar RNA, C/D box 127 Neighboring gene FKBP prolyl isomerase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:45602882-45603753 and GRCh37_chr14:45603754-45604624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8301 Neighboring gene FA complementation group M Neighboring gene NANOG hESC enhancer GRCh37_chr14:45667610-45668129 Neighboring gene MIS18 binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:45720005-45720504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8303 Neighboring gene uncharacterized LOC107984674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:45722623-45723572

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

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.

Genomic

  1. NG_189946.1 

    Range
    101..160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    45144854..45144913
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    39336866..39336925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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