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LOC130061611 ATAC-STARR-seq lymphoblastoid active region 12713 [ Homo sapiens (human) ]

Gene ID: 130061611, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130061611
Gene description
ATAC-STARR-seq lymphoblastoid active region 12713
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 LOC130061611 in Genome Data Viewer
Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74592187..74592316)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75482678..75482807)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72588326..72588455)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72535116-72535616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72546952-72547452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72547453-72547953 Neighboring gene CD300c molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72564995-72565725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72565726-72566455 Neighboring gene CD300H molecule (gene/pseudogene) Neighboring gene CD300LD antisense RNA 1 Neighboring gene CD300 molecule like family member d Neighboring gene uncharacterized LOC101928343 Neighboring gene CD300e molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72627822-72628322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72628323-72628823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12714 Neighboring gene uncharacterized LOC105371894 Neighboring gene RAB37, member RAS oncogene family

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_196756.1 

    Range
    101..230
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74592187..74592316
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791806.1 Reference GRCh38.p14 PATCHES

    Range
    168635..168764
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75482678..75482807
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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