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NBEAP1 Gene

pseudogene   GIFtS: 25
GCID: GC15M020875

Neurobeachin Pseudogene 1

(Previous name: B-cell CLL/lymphoma 8)
(Previous symbol: BCL8)
  See NBEAP1-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)
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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   

Export aliases for NBEAP1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NBEAP1 Gene:
NBEAP1 (neurobeachin pseudogene 1) is a pseudogene. Diseases associated with NBEAP1 include lymphoma, diffuse large cell.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_037852.7  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NBEAP1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NBEAP1
Interactions:

    Search GeneGlobe Interaction Network for NBEAP1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NBEAP1 (BCL8)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)
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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

NBEAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

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:
 

 
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(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)
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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)
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Paralogs for NBEAP1 gene
2 SIMAP similar genes for NBEAP1 using alignment to 1 protein entry:     BCL8_HUMAN:
LRBA    NBEA

Find genes that share paralogs with NBEAP1           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NBEAP1 (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) Selected 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

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 1 disease for NBEAP1:    
    About MalaCards
    lymphoma, diffuse large cell


    Find genes that share disorders with NBEAP1           About GenesLikeMe


    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)
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    PubMed articles for NBEAP1 gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (Nature 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genomics 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. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 606 HGNC: 1007 Ensembl:ENSG00000258590 euGenes: HUgn606 ECgene: NBEAP1
    H-InvDB: NBEAP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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