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LOC100507346 uncharacterized LOC100507346 [ Homo sapiens (human) ]

Gene ID: 100507346, updated on 10-Oct-2023

Summary

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Gene symbol
LOC100507346
Gene description
uncharacterized LOC100507346
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 endometrium (RPKM 6.4), testis (RPKM 5.7) and 24 other tissues See more
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Genomic context

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Location:
9q22.32
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (95463609..95470019)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (107633250..107639660)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98225891..98232301)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376155 Neighboring gene Sharpr-MPRA regulatory region 1060 Neighboring gene uncharacterized LOC105376156 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173297-98173917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20065 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98196113-98196685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98196686-98197257 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98209829-98210813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98224469-98225332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98225569-98226070 Neighboring gene patched 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98255961-98256702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:98256703-98257442 Neighboring gene VISTA enhancer hs1258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:98269229-98269862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20071 Neighboring gene NANOG hESC enhancer GRCh37_chr9:98271448-98271997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:98272951-98273714 Neighboring gene VISTA enhancer hs1417 Neighboring gene uncharacterized LOC105376157 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110687 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:98314166-98315130 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:98315131-98316095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98326699-98327200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98327201-98327700 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110694 Neighboring gene uncharacterized LOC105376158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98362911-98363412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98363413-98363912

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. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Hancock DB, et al. Nat Genet, 2010 Jan. PMID 20010835, Free PMC Article
  2. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. Hancock DB, et al. PLoS Genet, 2012. PMID 23284291, Free PMC Article
  3. 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

EBI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
EBI GWAS Catalog

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_038982.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK124102, AL161729

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    95463609..95470019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    107633250..107639660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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