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

Gene ID: 100526773, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45536280..45547401, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47272137..47283258, complement)
RS_2024_09 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 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_2024_08

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

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