U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC119369027 CRISPRi-FlowFISH-validated BCAT2 regulatory element [ Homo sapiens (human) ]

Gene ID: 119369027, updated on 12-Sep-2024

Summary

Gene symbol
LOC119369027
Gene description
CRISPRi-FlowFISH-validated BCAT2 regulatory element
Gene type
biological region
Feature type(s)
regulatory: silencer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. It was validated as a positively-acting cis-regulatory element for the BCAT2 (branched chain amino acid transaminase 2) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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

See LOC119369027 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48812108..48812648)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51807130..51807670)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49315365..49315905)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49296757-49297257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14907 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49299377-49300012 Neighboring gene RNA, U6 small nuclear 317, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49301825-49302433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49302434-49303042 Neighboring gene branched chain amino acid transaminase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49309749-49310420 Neighboring gene uncharacterized LOC105372432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14908 Neighboring gene Sharpr-MPRA regulatory region 11839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49316517-49317128 Neighboring gene hydroxysteroid 17-beta dehydrogenase 14 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10904 Neighboring gene MPRA-validated peak3541 silencer Neighboring gene pleckstrin homology domain containing A4 Neighboring gene Sharpr-MPRA regulatory region 3566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10905

Genomic regions, transcripts, and products

General gene information

Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 10903

NCBI Reference Sequences (RefSeq)

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_070956.1 

    Range
    101..641
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48812108..48812648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51807130..51807670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)