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Aliases for NBPF7 Gene

Aliases for NBPF7 Gene

  • NBPF Member 7 2 3 5
  • Neuroblastoma Breakpoint Family, Member 7 2

External Ids for NBPF7 Gene

Previous GeneCards Identifiers for NBPF7 Gene

  • GC01M120090
  • GC01M120178
  • GC01M120377
  • GC01M118235

Summaries for NBPF7 Gene

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, 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, Mar 2013]

GeneCards Summary for NBPF7 Gene

NBPF7 (NBPF Member 7) is a Protein Coding gene. Diseases associated with NBPF7 include Neuroblastoma.

Additional gene information for NBPF7 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF7 Gene

Genomics for NBPF7 Gene

Regulatory Elements for NBPF7 Gene

Enhancers for NBPF7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H119638 0.3 FANTOM5 6.8 +206.5 206503 0 NBPF7 ZNF697 GC01M119620
GH01H119982 0.5 FANTOM5 dbSUPER 1.6 -138.2 -138168 0 ADAM30 NOTCH2 ZNF697 NBPF7 GC01P119934
GH01H120149 0.3 FANTOM5 1.7 -305.2 -305189 0 NOTCH2 NBPF7 GC01P120130 SEC22B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NBPF7 on UCSC Golden Path with GeneCards custom track

Genomic Location for NBPF7 Gene

Chromosome:
1
Start:
119,833,730 bp from pter
End:
119,844,880 bp from pter
Size:
11,151 bases
Orientation:
Minus strand

Genomic View for NBPF7 Gene

Genes around NBPF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF7 Gene

Proteins for NBPF7 Gene

  • Protein details for NBPF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C2Y1-NBPF7_HUMAN
    Recommended name:
    Putative neuroblastoma breakpoint family member 7
    Protein Accession:
    P0C2Y1

    Protein attributes for NBPF7 Gene

    Size:
    421 amino acids
    Molecular mass:
    48090 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

neXtProt entry for NBPF7 Gene

Post-translational modifications for NBPF7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBPF7 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for NBPF7 Gene

Domains & Families for NBPF7 Gene

Gene Families for NBPF7 Gene

Protein Domains for NBPF7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBPF7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C2Y1

UniProtKB/Swiss-Prot:

NBPF7_HUMAN :
  • Belongs to the NBPF family.
Family:
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF7: view

Function for NBPF7 Gene

Phenotypes for NBPF7 Gene

genes like me logo Genes that share phenotypes with NBPF7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NBPF7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF7 Gene

Localization for NBPF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF7 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for NBPF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF7: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NBPF7 Gene

Pathways & Interactions for NBPF7 Gene

SuperPathways for NBPF7 Gene

No Data Available

Interacting Proteins for NBPF7 Gene

Gene Ontology (GO) - Biological Process for NBPF7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF7 Gene

Drugs & Compounds for NBPF7 Gene

No Compound Related Data Available

Transcripts for NBPF7 Gene

mRNA/cDNA for NBPF7 Gene

(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NBPF7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF7 Gene

No ASD Table

Relevant External Links for NBPF7 Gene

GeneLoc Exon Structure for
NBPF7
ECgene alternative splicing isoforms for
NBPF7

Expression for NBPF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF7 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF7 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x24.2), Testis (x12.6), and Colon - Transverse (x12.6).

Protein differential expression in normal tissues from HIPED for NBPF7 Gene

This gene is overexpressed in Heart (56.2) and Adrenal (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF7 Gene



Protein tissue co-expression partners for NBPF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of NBPF7 Gene:

NBPF7
genes like me logo Genes that share expression patterns with NBPF7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF7 Gene

Orthologs for NBPF7 Gene

Evolution for NBPF7 Gene

ENSEMBL:
Gene Tree for NBPF7 (if available)
TreeFam:
Gene Tree for NBPF7 (if available)

No data available for Orthologs for NBPF7 Gene

Paralogs for NBPF7 Gene

(17) SIMAP similar genes for NBPF7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NBPF7: view

No data available for Paralogs for NBPF7 Gene

Variants for NBPF7 Gene

Sequence variations from dbSNP and Humsavar for NBPF7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000082510 -- 119,837,205(+) TGAAT(C/G)AATGG intron-variant, upstream-variant-2KB
rs1000467912 -- 119,842,350(+) AGCTT(A/G)GCTCT intron-variant
rs1000520692 -- 119,838,980(+) GGGAT(C/T)CACCA intron-variant
rs1000719573 -- 119,833,277(+) AAGAA(A/G)TGGCA intron-variant, downstream-variant-500B
rs1001854696 -- 119,833,670(+) AAAGC(C/T)TAAAA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NBPF7 Gene

Variant ID Type Subtype PubMed ID
esv2716818 CNV deletion 23290073
nsv10672 CNV gain 18304495
nsv428201 CNV gain 18775914
nsv524681 CNV gain 19592680
nsv831215 CNV gain 17160897
nsv831226 CNV gain+loss 17160897
nsv945590 CNV duplication 23825009
nsv946187 CNV duplication 23825009

Relevant External Links for NBPF7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF7 Gene

Disorders for NBPF7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF7 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search NBPF7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBPF7

Genetic Association Database (GAD)
NBPF7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBPF7
genes like me logo Genes that share disorders with NBPF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF7 Gene

Publications for NBPF7 Gene

  1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PMID: 16079250) Vandepoele K … van Roy F (Molecular biology and evolution 2005) 2 3 60
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 60

Products for NBPF7 Gene

Sources for NBPF7 Gene

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