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    FAM120A2P family with sequence similarity 120A2, pseudogene [ Homo sapiens (human) ]

    Gene ID: 445577, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM120A2Pprovided by HGNC
    Official Full Name
    family with sequence similarity 120A2, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:31116
    See related
    AllianceGenome:HGNC:31116
    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
    C9orf129; bA165J3.3
    Summary
    Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 10.9), brain (RPKM 8.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    9q22.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (93329488..93346303, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105496883..105513702, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (96091770..96108585, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95913665-95914165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95935533-95936106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95948459-95949424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95951526-95952459 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95955296-95955514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95964080-95965013 Neighboring gene WNK lysine deficient protein kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96000334-96000834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96007029-96007528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:96025151-96025819 Neighboring gene uncharacterized LOC124902214 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:96050932-96051728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96061034-96061534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96063483-96064395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96068651-96069555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96088631-96089132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96089133-96089632 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:96109682-96110628 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:96112805-96113334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:96114925-96115454 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:96115455-96115984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109877 Neighboring gene RNA, U6 small nuclear 829, pseudogene Neighboring gene uncharacterized LOC107987097

    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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    2. 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

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    General gene information

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    Markers

    Homology

    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_166069.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL583839

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      93329488..93346303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      105496883..105513702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001098808.1: Suppressed sequence

      Description
      NM_001098808.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    2. NM_001368813.1: Suppressed sequence

      Description
      NM_001368813.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T035.1 GenPept UniProtKB/Swiss-Prot:Q5T035

    Gene LinkOut

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

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