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NBPF7 Gene

pseudogene   GIFtS: 31
GCID: GC01M120377

Neuroblastoma Breakpoint Family, Member 7

  See NBPF7-related diseases
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
Neuroblastoma Breakpoint Family, Member 71 2
Putative Neuroblastoma Breakpoint Family Member 72

External Ids:    HGNC: 319891   Entrez Gene: 3435052   Ensembl: ENSG000002158647   OMIM: 6139975   UniProtKB: P0C2Y13   

Export aliases for NBPF7 gene to outside databases

Previous GC identifers: GC01M120090 GC01M120178 GC01M118235


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NBPF7 Gene:
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, mental retardation, 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, Mar 2013)

GeneCards Summary for NBPF7 Gene:
NBPF7 (neuroblastoma breakpoint family, member 7) is a pseudogene. Diseases associated with NBPF7 include neuroblastoma, and schizophrenia.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the NBPF7 gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT6   STAT5A   STAT1alpha   STAT2   STAT3   Cart-1   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBPF7


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

NBPF7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M120377:  view genomic region     (about GC identifiers)

Start:
120,377,388 bp from pter      End:
120,387,779 bp from pter
Size:
10,392 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NBPF7_HUMAN, P0C2Y1 (See protein sequence)
Recommended Name: Putative neuroblastoma breakpoint family member 7  
Size: 421 amino acids; 48090 Da
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for NBPF7: NX_P0C2Y1

Explore proteomics data for NBPF7 at MOPED


See NBPF7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001041445.1  

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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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HGNC Gene Families:
NBPF: neuroblastoma breakpoint family

1 InterPro protein domain:
 IPR010630 NBPF_dom

Graphical View of Domain Structure for InterPro Entry P0C2Y1

ProtoNet protein and cluster: P0C2Y1

UniProtKB/Swiss-Prot: NBPF7_HUMAN, P0C2Y1
Similarity: Belongs to the NBPF family
Similarity: Contains 2 NBPF domains


Find genes that share domains with NBPF7           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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Subcellular locations from UniProtKB/Swiss-Prot
NBPF7_HUMAN, P0C2Y1: Cytoplasm (Probable)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

Find genes that share ontologies with NBPF7           About GenesLikeMe


(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 NBPF7
Interactions:

    Search GeneGlobe Interaction Network for NBPF7

(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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(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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REFSEQ mRNAs for NBPF7 gene: 
NM_001047980.2  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000445758 ENST00000401014(uc010oxk.2)
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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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NBPF7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGTGTCCCA
NBPF7 Expression
About this image

NBPF7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NBPF7 Protein Expression
    Custom PCR Arrays for NBPF7
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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 NBPF7 (if available)
TreeFam Gene Tree for NBPF7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NBPF7 gene
17 SIMAP similar genes for NBPF7 using alignment to 1 protein entry:     NBPF7_HUMAN:
NBPF21    NBPF20    NBPF12    NBPF11    NBPF1    NBPF8
NBPF10    AL592307.2    NBPF15    NBPF16    NBPF24    NBPF9
NBPF3    NBPF14    NBPF5P    NBPF6    NBPF4

Find genes that share paralogs with NBPF7           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 NBPF7 (see all 379)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1502256541,2
--120376939(+) GTTCAA/GAGTGA 1 -- ds50010--------
rs18156871,2
C,F,A,H--120377129(+) TTTTCA/CGCAAG 1 -- ds500130Minor allele frequency- C:0.23NS EA NA WA CSA 2444
rs1415559841,2
--120377173(+) GTCCCA/GGGTGA 1 -- ds50010--------
rs1470343811,2
C--120377197(+) GCCAGA/CGGCTC 1 -- ds50010--------
rs1833422821,2
--120377251(+) TAAGGA/CCTCTC 1 -- ds50010--------
rs2002522331,2
C,F--120377463(+) TCATCG/AAGCAG 2 /L syn11Minor allele frequency- A:0.00EU 1323
rs1145509561,2
C,F--120377579(+) TCTTGC/TTGATG 1 -- int11Minor allele frequency- T:0.02WA 118
rs1165612741,2
C,F--120377620(+) TAGCCC/TAGGGG 1 -- int11Minor allele frequency- T:0.03WA 118
rs1385955391,2
--120377694(+) GTGCCA/GTCCAC 1 -- int10--------
rs1866469931,2
--120377714(+) GAAAAC/TAACCC 1 -- int10--------

HapMap Linkage Disequilibrium report for NBPF7 (120377388 - 120387779 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for NBPF7:    About this table    
Variant IDTypeSubtypePubMed ID
esv2716818CNV Deletion23290073
nsv872180CNV Loss21882294
nsv831215CNV Gain17160897
nsv524681CNV Gain19592680
nsv428201CNV Gain18775914
nsv10672CNV Gain18304495
nsv831226CNV Gain+Loss17160897
dgv94e1CNV Complex17122850
dgv93e1CNV Complex17122850

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: 613997    OMIM disorders: --

2 diseases for NBPF7:    
About MalaCards
neuroblastoma    schizophrenia


Find genes that share disorders with NBPF7           About GenesLikeMe

Genetic Association Database (GAD): NBPF7

Export disorders for NBPF7 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 NBPF7 gene integrated from 10 sources:
(articles sorted by number of sources associating them with NBPF7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PubMed id 16079250)1, 3 Vandepoele K.... van Roy F. (Mol. Biol. Evol. 2005)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 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: 343505 HGNC: 31989 Ensembl:ENSG00000215864 euGenes: HUgn343505 ECgene: NBPF7
H-InvDB: NBPF7

(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 NBPF7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NBPF7 gene:
Search GeneIP for patents involving NBPF7

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, eBioscience, antibodies-online, 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
Advanced Cell Diagnostics, Animal models from genOway)
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