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

Gene ID: 100616530, updated on 10-Oct-2023

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (95268836..95810143)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (96394092..96935851)
105.20220307 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)

Genotypes

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
    ENST00000517437.1

  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_2023_10

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

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Molecular Biology Databases