Human Gene NBPF20 (uc021owu.1)
  Description: Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF20), mRNA.
RefSeq Summary (NM_015383): This gene 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, May 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Transcript (Including UTRs)
   Position: hg19 chr1:148,276,556-148,279,343 Size: 2,788 Total Exon Count: 4 Strand: -


Page IndexSequence and LinksPrimersMalaCardsRNA-Seq ExpressionMicroarray Expression
Other SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:148,276,556-148,279,343)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneNetworkH-INVHGNCLynx
MalacardsPubMedTreefam

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NBPF20
Diseases sorted by gene-association score: neuroblastoma (6)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.52 RPKM in Brain - Cerebellum
Total median expression: 23.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF379636 - Homo sapiens AG11 mRNA, partial cds.
AF379633 - Homo sapiens AG6 mRNA, partial cds.
JD077036 - Sequence 58060 from Patent EP1572962.
AF379619 - Homo sapiens AB13 precursor RNA, partial cds.
AF379620 - Homo sapiens AB14 precursor RNA, partial cds.
AF420437 - Homo sapiens AB14 precursor RNA, partial cds.
AF380582 - Homo sapiens AG8 mRNA, partial cds.
JD040586 - Sequence 21610 from Patent EP1572962.
JD372775 - Sequence 353799 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AF380582, NBPF14
UCSC ID: uc021owu.1
RefSeq Accession: NM_015383

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AF380582.1
exon count: 4CDS single in 3' UTR: no RNA size: 449
ORF size: 0CDS single in intron: no Alignment % ID: 99.33
txCdsPredict score: 79.00frame shift in genome: no % Coverage: 99.78
has start codon: no stop codon in genome: no # of Alignments: 19
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.