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LOC100130357 uncharacterized LOC100130357 [ Homo sapiens (human) ]

Gene ID: 100130357, updated on 8-Mar-2024

Summary

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Gene symbol
LOC100130357
Gene description
uncharacterized LOC100130357
See related
Ensembl:ENSG00000215022
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in bone marrow (RPKM 1.1), brain (RPKM 0.5) and 24 other tissues See more
Orthologs
all
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Genomic context

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See LOC100130357 in Genome Data Viewer
Location:
6p24.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13273094..13295586, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13146356..13168826, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13273326..13295818, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphatase and actin regulator 1 Neighboring gene TBC1D7-LOC100130357 readthrough Neighboring gene MPRA-validated peak5664 silencer Neighboring gene uncharacterized LOC105374933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16925 Neighboring gene RNA, U1 small nuclear 11, pseudogene Neighboring gene Sharpr-MPRA regulatory region 805 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13257894-13258394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13258395-13258895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24021 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:13273523-13274722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24023 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:13307473-13308672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13328608-13329114 Neighboring gene uncharacterized LOC124901261 Neighboring gene TBC1 domain family member 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Readthrough TBC1D7-LOC100130357

Readthrough gene: TBC1D7-LOC100130357, Included gene: TBC1D7

Homology

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.

RNA

  1. NR_134859.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' exon structure. This variant is represented as non-coding because it lacks an ORF that meets RefSeq criteria.
    Source sequence(s)
    AL008729, BX089972

  2. NR_160971.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL008729
    Related
    ENST00000606150.5

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    13273094..13295586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    13146356..13168826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001242698.1: Suppressed sequence

    Description
    NM_001242698.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
Heading Accession and Version

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