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LOC100128966 uncharacterized LOC100128966 [ Homo sapiens (human) ]

Gene ID: 100128966, updated on 10-Oct-2023

Summary

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Gene symbol
LOC100128966
Gene description
uncharacterized LOC100128966
See related
Ensembl:ENSG00000120709
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
Low expression observed in reference dataset See more
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Genomic context

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Location:
5q31.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138332105..138337146)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138858324..138863363)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137667794..137672835)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23 Neighboring gene Sharpr-MPRA regulatory region 7870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137581186-137581778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23196 Neighboring gene MPRA-validated peak5491 silencer Neighboring gene MPRA-validated peak5492 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16388 Neighboring gene GDNF family receptor alpha 3 Neighboring gene RPS27A pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137642973-137643148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:137666651-137667604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23201 Neighboring gene family with sequence similarity 53 member C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706464-137706964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706965-137707465 Neighboring gene lysine demethylase 3B

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. Fine expression profiling of full-length transcripts using a size-unbiased cDNA library prepared with the vector-capping method. Oshikawa M, et al. DNA Res, 2008 Jun 30. PMID 18487259, Free PMC Article
  2. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. Graubert TA, et al. PLoS One, 2009. PMID 19240791, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
Submit: New GeneRIF Correction

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

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_146628.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AB371545
    Related
    ENST00000511595.5

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    138332105..138337146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    138858324..138863363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Molecular Biology Databases