U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    NBPF18P NBPF member 18, pseudogene [ Homo sapiens (human) ]

    Gene ID: 441908, updated on 17-Jun-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NBPF18Pprovided by HGNC
    Official Full Name
    NBPF member 18, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:31998
    See related
    AllianceGenome:HGNC:31998
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013]
    Expression
    Restricted expression toward testis (RPKM 2.7) See more
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See NBPF18P in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152018278..152022509)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151141789..151146020)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151990754..151994985)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904421 Neighboring gene keratin 8 pseudogene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151941289-151941789 Neighboring gene S100 calcium binding protein A10 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:151964375-151965574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1334 Neighboring gene Sharpr-MPRA regulatory region 9275 Neighboring gene uncharacterized LOC105371442 Neighboring gene Sharpr-MPRA regulatory region 10037 Neighboring gene Sharpr-MPRA regulatory region 201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1728 Neighboring gene S100 calcium binding protein A11 Neighboring gene uncharacterized LOC101927949 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:152019998-152021197 Neighboring gene S100A11-TCHHL1 intergenic CAGE-defined high expression enhancer

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

    Go to the top of the page Help

    Markers

    Other Names

    • neuroblastoma breakpoint family member 18, pseudogene

    Clone Names

    • AL591893.1, DKFZp434K2231

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_103561.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL450992

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      152018278..152022509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      151141789..151146020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005552.3: Suppressed sequence

      Description
      NG_005552.3: This RefSeq was permanently suppressed because it is now thought that this is a transcribed pseudogene.
    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.

    Molecular Biology Databases
    Research Materials