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    EFCAB14-AS1 EFCAB14 antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 100130197, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EFCAB14-AS1provided by HGNC
    Official Full Name
    EFCAB14 antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:44108
    See related
    Ensembl:ENSG00000228237 AllianceGenome:HGNC:44108
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA0494-AS1
    Expression
    Ubiquitous expression in thyroid (RPKM 5.9), stomach (RPKM 5.2) and 25 other tissues See more
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    Genomic context

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    See EFCAB14-AS1 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46674036..46692098)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46551276..46569329)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47139708..47157770)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47131482-47132011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47132012-47132540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47133653-47133823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1007 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene uncharacterized LOC105378698 Neighboring gene testis expressed 38 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene Sharpr-MPRA regulatory region 7632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47193413-47194254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47194255-47195096 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47210608-47210835 Neighboring gene uncharacterized LOC105378699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47256389-47256889 Neighboring gene cytochrome P450 family 4 subfamily B member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. Lange CM, et al. Hepatology, 2012 Apr. PMID 22095909

    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
    Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.
    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)

    General gene information

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    Markers

    Clone Names

    • KIAA0494

    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_038827.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL593856, BE504902, BX113937
      Related
      ENST00000418985.2

    2. NR_038828.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1.
      Source sequence(s)
      AL593856, BX113937
      Related
      ENST00000442839.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46674036..46692098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46551276..46569329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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