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    CECR7 cat eye syndrome chromosome region, candidate 7 [ Homo sapiens (human) ]

    Gene ID: 100130418, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CECR7provided by HGNC
    Official Full Name
    cat eye syndrome chromosome region, candidate 7provided by HGNC
    Primary source
    HGNC:HGNC:1845
    See related
    AllianceGenome:HGNC:1845
    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
    CYCL; SAHL1
    Expression
    Biased expression in ovary (RPKM 7.0), brain (RPKM 1.6) and 13 other tissues See more
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    Genomic context

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    See CECR7 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17036570..17060070)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17713261..17736791)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17517460..17540960)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene IL9R pseudogene 6 Neighboring gene vomeronasal 1 receptor 9 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene transmembrane protein 121B

    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 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. Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11. Bridgland L, et al. Hum Genet, 2003 Jan. PMID 12483300
    2. Molecular cloning of yeast cytochrome c-like polypeptide expressed in human lung carcinoma: an antigen recognizable by lung cancer-specific human monoclonal antibody. Kawamoto S, et al. In Vitro Cell Dev Biol Anim, 1995 Oct. PMID 8564085
    3. 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
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. cycl gene from human 22nd chromosome that encodes the lung adenocarcinoma antigne recognized by the lung cancer specific monoclonal antibodies
      Title: Molecular cloning of yeast cytochrome c-like polypeptide expressed in human lung carcinoma: an antigen recognizable by lung cancer-specific human monoclonal antibody.
    2. This chimeric transcription unit is formed from three duplicons in the pericentromeric region of chromosome 22q.
      Title: Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: IL17RA

    Other Names

    • cat eye syndrome chromosome region, candidate 7 (non-protein coding)
    • cytochrome c-like antigen

    Clone Names

    • FLJ40726

    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_015352.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY026052, BC008575

    2. NR_152825.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY026052, BC008575, DB170302

    3. NR_152826.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006946

    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
      17036570..17060070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17713261..17736791
      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.

    Chemical Information
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    Research Materials