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    CFAP144P1 CFAP144 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 340286, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP144P1provided by HGNC
    Official Full Name
    CFAP144 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:34511
    See related
    Ensembl:ENSG00000164556 AllianceGenome:HGNC:34511
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THEG6; FAM183B; FAM183BP
    Summary
    Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 7.5) See more
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    Genomic context

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    See CFAP144P1 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (38685346..38687089, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (38842029..38843772, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38724946..38726689, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene amphiphysin Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:38629347-38629908 Neighboring gene RNA, 7SL, cytoplasmic 83, pseudogene Neighboring gene keratin 8 pseudogene 20 Neighboring gene VPS41 subunit of HOPS complex Neighboring gene MPRA-validated peak6495 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38925534-38926050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38926051-38926567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25874 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:38989846-38991045 Neighboring gene POU6F2 antisense RNA 2 Neighboring gene POU class 6 homeobox 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. 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
    2. 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
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, 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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Other Names

    • Protein FAM183B
    • acyloxyacyl hydrolase (neutrophil)
    • family with sequence similarity 183 member B, pseudogene
    • family with sequence similarity 183, member B
    • testis highly expressed protein 6

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    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_028347.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC011309
      Related
      ENST00000409072.4

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      38685346..38687089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      38842029..38843772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001105282.2: Suppressed sequence

      Description
      NM_001105282.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZVS7.2 GenPept UniProtKB/Swiss-Prot:Q6ZVS7

    Gene LinkOut

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

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