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    CFAP418-AS1 CFAP418 antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 100616530, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP418-AS1provided by HGNC
    Official Full Name
    CFAP418 antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:50444
    See related
    Ensembl:ENSG00000253773 AllianceGenome:HGNC:50444
    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
    C8orf37-AS1
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See CFAP418-AS1 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (95268836..95810143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (96394092..96935851)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96281064..96822371)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901982 Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27654 Neighboring gene long intergenic non-protein coding RNA 1298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:96281415-96282054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27656 Neighboring gene tRNA-Ser (anticodon AGA) 2-5 Neighboring gene cilia and flagella associated protein 418 Neighboring gene NANOG hESC enhancer GRCh37_chr8:96398681-96399258 Neighboring gene NANOG hESC enhancer GRCh37_chr8:96442743-96443274 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:96478176-96479375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:96570145-96570805 Neighboring gene RNA, U6 small nuclear 690, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:96693685-96694212 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:96694213-96694738 Neighboring gene uncharacterized LOC107986957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27658 Neighboring gene SRSF3 pseudogene 2

    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. Transcriptional Interference Regulates the Evolutionary Development of Speech. Mortlock DP, et al. Genes (Basel), 2022 Jul 4. PMID 35885978, Free PMC Article
    2. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. Fernandez-Rozadilla C, et al. BMC Genomics, 2013 Jan 26. PMID 23350875, Free PMC Article
    3. siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference. Fang Z, et al. Genes (Basel), 2021 Aug 23. PMID 34440463, Free PMC Article
    4. Genetic variants associated with disordered eating. Wade TD, et al. Int J Eat Disord, 2013 Sep. PMID 23568457, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, 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
    A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • C8orf37 antisense RNA 1
    • KB-1047C11.2
    • tospeak

    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_038201.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC024995, AC116154, GU295156

    2. NR_038202.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1.
      Source sequence(s)
      AC024995, AC116154, GU295153
      Related
      ENST00000517437.2

    3. NR_038203.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1.
      Source sequence(s)
      AC116154, GU295154

    4. NR_038204.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two internal exons, compared to variant 1.
      Source sequence(s)
      AC116154, GU295155

    5. NR_038205.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three internal exons and uses an alternate splice site, compared to variant 1.
      Source sequence(s)
      GU295158

    6. NR_038206.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two internal exons, includes an alternate exon and uses two alternate splice sites, compared to variant 1.
      Source sequence(s)
      AC116154, GU295159

    7. NR_038207.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks three internal exons, compared to variant 1.
      Source sequence(s)
      AC024995, GU295161

    8. NR_038208.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two internal exons and uses an alternate splice site, compared to variant 1.
      Source sequence(s)
      AC116154, GU295162

    9. NR_038209.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks three internal exons and includes an alternate exon, compared to variant 1.
      Source sequence(s)
      GU295163

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      95268836..95810143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      96394092..96935851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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