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    CECR3 cat eye syndrome chromosome region, candidate 3 [ Homo sapiens (human) ]

    Gene ID: 27442, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CECR3provided by HGNC
    Official Full Name
    cat eye syndrome chromosome region, candidate 3provided by HGNC
    Primary source
    HGNC:HGNC:1841
    See related
    Ensembl:ENSG00000241832 AllianceGenome:HGNC:1841
    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 CECR3 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17256859..17266733, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17933325..17943191, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17737749..17747623, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985573 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17679276-17679780 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17679781-17680284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17680285-17680790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17683069-17683569 Neighboring gene nonconserved acetylation island sequence 73 enhancer Neighboring gene adenosine deaminase 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17715293-17716220 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17716221-17717146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18615 Neighboring gene family with sequence similarity 32, member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17741695-17742280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17744419-17745245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17745246-17746072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17750393-17751381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13436 Neighboring gene NANOG hESC enhancer GRCh37_chr22:17764354-17764855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17768852-17769352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17787810-17788548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17788549-17789287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62410 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17811413-17811590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17812630-17813130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17813131-17813631 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62420 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17822020-17822264 Neighboring gene Sharpr-MPRA regulatory region 13223 Neighboring gene RNA, 7SL, cytoplasmic 843, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17855418-17856368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17856369-17857317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17859097-17859774 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62431 Neighboring gene NANOG hESC enhancer GRCh37_chr22:17860543-17861103 Neighboring gene CECR2 histone acetyl-lysine reader Neighboring gene TERF2 interacting protein pseudogene 1

    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. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Other Names

    • cat eye syndrome chromosome region, candidate 3 (non-protein coding)

    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_038398.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005399, AF277398
      Related
      ENST00000428828.1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17256859..17266733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17933325..17943191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials