U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC130008793 ATAC-STARR-seq lymphoblastoid active region 7038 [ Homo sapiens (human) ]

Gene ID: 130008793, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC130008793
Gene description
ATAC-STARR-seq lymphoblastoid active region 7038
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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC130008793 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (111599820..111600049)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (111576741..111576970)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112037624..112037853)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ataxin 2 Neighboring gene U7 small nuclear RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112008371-112008568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4869 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112029875-112030049 Neighboring gene IFITM3 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112049467-112049966 Neighboring gene ATXN2 antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112073223-112073826 Neighboring gene uncharacterized LOC124903020 Neighboring gene BRCA1 associated protein Neighboring gene PEST containing nuclear protein pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_187362.1 

    Range
    101..330
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    111599820..111600049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    111576741..111576970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases