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LOC100506444 uncharacterized LOC100506444 [ Homo sapiens (human) ]

Gene ID: 100506444, updated on 10-Oct-2023

Summary

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Gene symbol
LOC100506444
Gene description
uncharacterized LOC100506444
See related
Ensembl:ENSG00000249341
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
Restricted expression toward kidney (RPKM 1.5) See more
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Genomic context

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Location:
4q12
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (53695901..53734358)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (57183215..57221656)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54562068..54600525)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ligand of numb-protein X 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54458833-54459745 Neighboring gene COMMD5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:54467685-54468184 Neighboring gene LNX1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21568 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:54584896-54585497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21570 Neighboring gene Sharpr-MPRA regulatory region 11224 Neighboring gene uncharacterized LOC124900702 Neighboring gene nucleic acid binding protein 2 pseudogene

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. Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of Pazopanib. Maitland ML, et al. Clin Cancer Res, 2015 Jan 15. PMID 25411163, Free PMC Article

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
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
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_125918.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK129929
    Related
    ENST00000506950.1

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    53695901..53734358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    57183215..57221656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Molecular Biology Databases