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DEFA8P defensin alpha 8, pseudogene [ Homo sapiens (human) ]

Gene ID: 449491, updated on 8-Nov-2023

Summary

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Official Symbol
DEFA8Pprovided by HGNC
Official Full Name
defensin alpha 8, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:31799
See related
Ensembl:ENSG00000223629 AllianceGenome:HGNC:31799
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
DEFAP1
Expression
Restricted expression toward bone marrow (RPKM 25.0) See more
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Genomic context

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Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6950726..6951599, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6705395..6706268, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6808248..6809121, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin alpha 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18889 Neighboring gene defensin alpha 4 Neighboring gene defensin alpha 9, pseudogene Neighboring gene defensin alpha 10, pseudogene

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. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. Taudien S, et al. BMC Genomics, 2004 Dec 10. PMID 15588320, Free PMC Article
  2. Rapid evolution and diversification of mammalian alpha-defensins as revealed by comparative analysis of rodent and primate genes. Patil A, et al. Physiol Genomics, 2004 Dec 15. PMID 15494476

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

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_073407.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AY746433
    Related
    ENST00000457582.1

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    6950726..6951599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    345838..346711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    6705395..6706268 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_005044.2: Suppressed sequence

    Description
    NG_005044.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Molecular Biology Databases