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LOC111721713 skeletal muscle cis-regulatory module in GYS1 intron [ Homo sapiens (human) ]

Gene ID: 111721713, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111721713
Gene description
skeletal muscle cis-regulatory module in GYS1 intron
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 region, which is located in an intron of the GYS1 (glycogen synthase 1) gene on chromosome 19, represents a cis-regulatory module (CRM) that functions as an enhancer in skeletal muscle. This element was identified as a muscle-specific CRM by the Logistic Regression Analysis, MSCAN and ClusterBuster prediction methods. It was shown to drive selective reporter gene expression in differentiated C2C12 myotubes. [provided by RefSeq, Jan 2018]
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Genomic context

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See LOC111721713 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 (48989765..48990156)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51984628..51985020)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49493022..49493413)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49457811-49458379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49458380-49458947 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 2 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49473581-49474108 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 4 Neighboring gene ferritin light chain Neighboring gene glycogen synthase 1 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14921 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49491709-49491891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14923 Neighboring gene RuvB like AAA ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49507585-49508084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49512697-49513198 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49515021-49515195 Neighboring gene microRNA 6798 Neighboring gene Sharpr-MPRA regulatory region 164 Neighboring gene luteinizing hormone subunit beta Neighboring gene stabilizer of axonemal microtubules 3

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. Validation of skeletal muscle cis-regulatory module predictions reveals nucleotide composition bias in functional enhancers. Kwon AT, et al. PLoS Comput Biol, 2011 Dec. PMID 22144875, 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • GYS1 intronic myotube-selective CRM

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_056157.1 

    Range
    101..492
    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
    48989765..48990156
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51984628..51985020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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