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    FAM86EP family with sequence similarity 86 member E, pseudogene [ Homo sapiens (human) ]

    Gene ID: 348926, updated on 22-Oct-2024

    Summary

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    Official Symbol
    FAM86EPprovided by HGNC
    Official Full Name
    family with sequence similarity 86 member E, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:28017
    See related
    Ensembl:ENSG00000290374 AllianceGenome:HGNC:28017
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in thyroid (RPKM 1.6), endometrium (RPKM 1.0) and 25 other tissues See more
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    Genomic context

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    See FAM86EP in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (3941760..3955428, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (3941182..3954841, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3943487..3957155, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 162 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:3910694-3911194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:3911195-3911695 Neighboring gene uncharacterized LOC124900652 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3927243-3928080 Neighboring gene EVA1C pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3928081-3928918 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3928919-3929756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:3930595-3931432 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3934253-3935094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3935095-3935934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3939416-3940161 Neighboring gene ALG1 like 7, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3947364-3947864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3949186-3949686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15212 Neighboring gene uncharacterized LOC105374358 Neighboring gene Sharpr-MPRA regulatory region 9760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3966743-3967306 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 9

    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. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    2. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    3. 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

    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)

    Genotypes

    General gene information

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    Markers

    Other Names

    • family with sequence similarity 86, member A pseudogene

    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_130740.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC226119, BC044637, CN271531, HY065247
      Related
      ENST00000313946.13

    2. NR_130741.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1.
      Source sequence(s)
      AC226119, BC044637, CN271531, HY065247
      Related
      ENST00000510565.6

    3. NR_130742.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon and contains a different alternate internal exon, compared to variant 1.
      Source sequence(s)
      AC226119, BC044637, CN271531, HY065247
      Related
      ENST00000735442.1

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      3941760..3955428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      3941182..3954841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024253.1: Suppressed sequence

      Description
      NR_024253.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    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