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LOC108254692 SBNO2 intron CAGE-defined low expression enhancer [ Homo sapiens (human) ]

Gene ID: 108254692, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108254692
Gene description
SBNO2 intron CAGE-defined low expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
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 element is located in an intron of the SBNO2 (strawberry notch homolog 2) gene. It was defined as a low expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
19p13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1172636..1173267)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1143470..1144100)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1172635..1173266)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1106419-1107295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1110839-1111758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1111759-1112678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1112679-1113598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1116907-1117420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1117421-1117933 Neighboring gene glutathione peroxidase 4 Neighboring gene strawberry notch homolog 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1122338-1122841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1131030-1131694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1133023-1133686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1133705-1134206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1134207-1134706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1147791-1148629 Neighboring gene uncharacterized LOC102723798 Neighboring gene collagen alpha-1(VII) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13590 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1179969-1180484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184302-1184862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1184863-1185421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9667 Neighboring gene Sharpr-MPRA regulatory region 12578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13593 Neighboring gene Sharpr-MPRA regulatory region 734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9670 Neighboring gene Sharpr-MPRA regulatory region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1208870-1209555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1210982-1211768 Neighboring gene high mobility group box 2 pseudogene 1 Neighboring gene serine/threonine kinase 11 intron 1 Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13596 Neighboring gene Sharpr-MPRA regulatory region 9448 Neighboring gene serine/threonine kinase 11 Neighboring gene serine/threonine kinase 11 intron 3 Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13597 Neighboring gene CACN subunit beta associated regulatory protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article

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)

General gene information

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Other Names

  • SBNO2 intron low CAGE FANTOM5 enhancer

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_051039.1 

    Range
    101..732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1172636..1173267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1143470..1144100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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