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    EPPIN-WFDC6 EPPIN-WFDC6 readthrough [ Homo sapiens (human) ]

    Gene ID: 100526773, updated on 8-Mar-2024

    Summary

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    Official Symbol
    EPPIN-WFDC6provided by HGNC
    Official Full Name
    EPPIN-WFDC6 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38825
    See related
    Ensembl:ENSG00000249139 AllianceGenome:HGNC:38825
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPINLW1-WFDC6
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
    Expression
    Restricted expression toward testis (RPKM 35.8) See more
    Orthologs
    all
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    Genomic context

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    See EPPIN-WFDC6 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45536280..45547401, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47272137..47283258, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44164919..44176040, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987282 Neighboring gene ribosomal protein L5 pseudogene 2 Neighboring gene serine peptidase inhibitor, Kunitz type 3 Neighboring gene WAP four-disulfide core domain 6 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 21 Neighboring gene epididymal peptidase inhibitor Neighboring gene WAP four-disulfide core domain 8 Neighboring gene RNA, 5S ribosomal pseudogene 485 Neighboring gene cyclin B1 interacting protein 1 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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • FLJ58958

    General protein information

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    Preferred Names
    SPINLW1-WFDC6 fusion protein
    Names
    SPINLW1-WFDC6 read-through transcript
    SPINLW1-WFDC6 readthrough

    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.

    mRNA and Protein(s)

    1. NM_001198986.2 → NP_001185915.1  SPINLW1-WFDC6 fusion protein precursor

      See identical proteins and their annotated locations for NP_001185915.1

      Status: VALIDATED

      Source sequence(s)
      AA626362, AK301937, AL031663
      UniProtKB/TrEMBL
      A0A494C0M2
      Related
      ENSP00000424176.1, ENST00000504988.1
      Conserved Domains (2) summary
      pfam00014
      Location:76 → 128
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam00095
      Location:32 → 71
      WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45536280..45547401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47272137..47283258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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