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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NBEAP1 Gene

pseudogene   GIFtS: 27
GCID: GC15M020875

Neurobeachin Pseudogene 1

(Previous name: B-cell CLL/lymphoma 8)
(Previous symbol: BCL8)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Neurobeachin Pseudogene 11 2 3
BCL81 2 3 5
BCL8A2 3
B-Cell CLL/Lymphoma 81

External Ids:    HGNC: 10071   Entrez Gene: 6062   Ensembl: ENSG000002585907   OMIM: 6018895   UniProtKB: P0C6P03   
ORGUL members:         
NONCODE14:n408084      

Export aliases for NBEAP1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NBEAP1 Gene: 
NBEAP1 (neurobeachin pseudogene 1) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with NBEAP1 include prostatitis.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_037852.6  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NBEAP1
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBEAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

NBEAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBEAP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M020875:  view genomic region     (about GC identifiers)

Start:
20,862,967 bp from pter      End:
20,961,480 bp from pter
Size:
98,514 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCL8_HUMAN, P0C6P0 (See protein sequence)
Recommended Name: Putative protein BCL8  
Size: 100 amino acids; 11233 Da
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for NBEAP1: NX_P0C6P0

NBEAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: P0C6P0


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NBEAP1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for NBEAP1 (BCL8)

Search CenterWatch for drugs/clinical trials and news about NBEAP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

Unigene Cluster for NBEAP1:

Neurobeachin pseudogene 1
Hs.657985  [show with all ESTs]
Unigene Representative Sequence: DQ668403
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000554452(uc010tze.1) ENST00000556948(uc010tzd.2)
miRNA
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Additional mRNA sequence: 

AL832227.1 DQ668403.1 DQ786302.1 NR_027992.1 

3 DOTS entries:

DT.97797399  DT.99998181  DT.99929942 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NBEAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NBEAP1 Expression
About this image


Genevestigator expression for NBEAP1

SOURCE GeneReport for Unigene cluster: Hs.657985

UniProtKB/Swiss-Prot: BCL8_HUMAN, P0C6P0
Tissue specificity: Expressed in prostate and testis

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAP1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
  --

ENSEMBL Gene Tree for NBEAP1 (if available)
TreeFam Gene Tree for NBEAP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NBEAP1 gene
2 SIMAP similar genes for NBEAP1 using alignment to 1 protein entry:     BCL8_HUMAN:
LRBA    NBEA

NBEAP1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/840 SNPs in NBEAP1 are shown (see all 840)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs121013961,2
C,A--20874303(+) TATATT/CTTCTT 1 -- ds50015Minor allele frequency- C:0.11WA NA CSA 9
rs1505865621,2
C--20874318(+) ATTAT-/TTATTTTC 1 -- ds50010--------
rs133292451,2
C--20874405(+) TTTCCA/GCTACA 1 -- ds50013Minor allele frequency- G:0.17NA WA 6
rs127197851,2
C,A--20874415(+) AGTCAG/CAACAA 1 -- ds50015Minor allele frequency- C:0.11WA NA CSA 9
rs714686141,2
C,F--20874500(+) ACACTT/AACCAA 1 -- ds50012Minor allele frequency- A:0.50NA 4
rs559638791,2
C,F--20874667(+) ATATGC/TCAGTT 1 -- ds50012Minor allele frequency- T:0.50NA 4
rs284974071,2
C,F--20874676(+) TTTGCC/TACATA 1 -- ds50016Minor allele frequency- T:0.42NA WA CSA 12
rs124425001,2
C,F,A,H--20874721(+) TACACG/TGCTCA 1 -- ds50014Minor allele frequency- T:0.50NA 8
rs620006271,2
C--20874786(+) GAAGTG/CTTATA 1 -- ds50011Minor allele frequency- C:0.50NA 2
rs116337711,2
C,F,A,H--20874799(+) TACCTC/AATCCT 1 -- nc-transcript-variant2Minor allele frequency- A:0.50NA 4

HapMap Linkage Disequilibrium report for NBEAP1 (20862967 - 20961480 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/93 variations for NBEAP1 (see all 93):    About this table     
Variant IDTypeSubtypePubMed ID
nsv435662CNV Deletion17901297
esv2749367CNV Deletion23290073
esv2749366CNV Deletion23290073
esv2749365CNV Deletion23290073
nsv436198CNV Deletion17901297
esv2664547CNV Deletion23128226
nsv471537CNV Duplication19718026
esv998148CNV Insertion20482838
dgv43n16CNV Insertion17901297
nsv513752CNV Insertion21212237

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 601889    OMIM disorders: --

UniProtKB/Swiss-Prot: BCL8_HUMAN, P0C6P0
  • Note=A chromosomal aberration involving BCL8 has been observed in diffuse large cell lymphoma (DLCL).
    Translocation t(14;15)(q32;q11-q13). The BCL8/IgH translocation leaves the coding region of BCL8 intact, but may
    have pathogenic effects due to alterations in the expression level of BCL8

  • 2 diseases for NBEAP1:    About MalaCards
    prostatitis    


    NBEAP1 for disorders           About GeneDecksing


    Export disorders for NBEAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NBEAP1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NBEAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma. (PubMed id 9159141)1, 2, 3 Dyomin V.G.... Chaganti R.S.K. (1997)
    2. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. (PubMed id 12160729)1, 2 Dyomin V.G.... Chaganti R.S.K. (2002)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 606 HGNC: 1007 Ensembl:ENSG00000258590 euGenes: HUgn606 ECgene: NBEAP1
    H-InvDB: NBEAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NBEAP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NBEAP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NBEAP1 gene:
    Search GeneIP for patents involving NBEAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    transforming growth factor, beta 1
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