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    ANKRD44-IT1 ANKRD44 intronic transcript 1 [ Homo sapiens (human) ]

    Gene ID: 101927547, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ANKRD44-IT1provided by HGNC
    Official Full Name
    ANKRD44 intronic transcript 1provided by HGNC
    Primary source
    HGNC:HGNC:41477
    See related
    Ensembl:ENSG00000236977 AllianceGenome:HGNC:41477
    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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    See ANKRD44-IT1 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197250858..197302519, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197734590..197786250, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198115582..198167243, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 44 Neighboring gene ribosomal protein L4 pseudogene 7 Neighboring gene NANOG hESC enhancer GRCh37_chr2:198002142-198002725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16917 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198051264-198052463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16918 Neighboring gene ANKRD44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16921 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:198120663-198121319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16923 Neighboring gene ATP5MC2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198174355-198174856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12212 Neighboring gene ANKRD44 divergent transcript Neighboring gene nucleophosmin 1 pseudogene 46

    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. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Kapoor M, et al. Drug Alcohol Depend, 2014 Sep 1. PMID 24962325, Free PMC Article
    2. Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. Kariuki SN, et al. Genes Immun, 2015 Jan-Feb. PMID 25338677, Free PMC Article
    3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    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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    Other Names

    • ANKRD44 intronic transcript 1 (non-protein coding)

    Clone Names

    • AC010746.2

    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_046837.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC074092
      Related
      ENST00000428191.1

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      197250858..197302519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197734590..197786250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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