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Aliases for NBPF25P Gene

Aliases for NBPF25P Gene

  • Neuroblastoma Breakpoint Family Member 25, Pseudogene 2 3 5
  • Neuroblastoma Breakpoint Family, Member 25, Pseudogene 2
  • WI2-925H4.1 3

External Ids for NBPF25P Gene

Previous GeneCards Identifiers for NBPF25P Gene

  • GC01P145829

Summaries for NBPF25P Gene

Entrez Gene Summary for NBPF25P 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, Sep 2013]

GeneCards Summary for NBPF25P Gene

NBPF25P (Neuroblastoma Breakpoint Family Member 25, Pseudogene) is a Pseudogene. Diseases associated with NBPF25P include Neuroblastoma.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF25P Gene

Genomics for NBPF25P Gene

Regulatory Elements for NBPF25P Gene

Enhancers for NBPF25P 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
GH01F144997 1.1 Ensembl ENCODE 16.2 +608.4 608355 4.2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF302 ZNF548 FOS ZNF263 POLR3C PFN1P6 NBPF25P ENSG00000224363 NUDT17 ENSG00000271644 FAM72D
GH01F146226 0.2 ENCODE 16.2 -620.2 -620178 3.3 HDGF SIN3A FEZF1 ZNF2 ZNF302 ZNF143 ZNF548 KLF13 SP3 REST POLR3C NBPF25P PDIA3P1 RBM8A NOTCH2NL PIR33330
GH01F145605 0.4 ENCODE 0.8 +0.2 174 3.4 HDGF PKNOX1 ATF1 SIN3A GLI4 ZNF2 ZNF121 GLIS2 GATA2 ELK1 LOC645166 NBPF25P PIR60534
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NBPF25P on UCSC Golden Path with GeneCards custom track

Promoters for NBPF25P Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000285380 -642 2201 HDGF ATF1 SIN3A GLI4 ZNF2 ZNF121 GLIS2 GATA2 ELK1 FOS

Genomic Location for NBPF25P Gene

Chromosome:
1
Start:
145,572,345 bp from pter
End:
145,607,858 bp from pter
Size:
35,514 bases
Orientation:
Minus strand

Genomic View for NBPF25P Gene

Genes around NBPF25P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF25P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF25P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF25P Gene

Proteins for NBPF25P Gene

Post-translational modifications for NBPF25P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF25P Gene

Domains & Families for NBPF25P Gene

Gene Families for NBPF25P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF25P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF25P Gene

Function for NBPF25P Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF25P Gene

Localization for NBPF25P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF25P Gene

Pathways & Interactions for NBPF25P Gene

SuperPathways for NBPF25P Gene

No Data Available

Interacting Proteins for NBPF25P Gene

Gene Ontology (GO) - Biological Process for NBPF25P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF25P Gene

Transcripts for NBPF25P Gene

mRNA/cDNA for NBPF25P Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF25P Gene

No ASD Table

Relevant External Links for NBPF25P Gene

GeneLoc Exon Structure for
NBPF25P
ECgene alternative splicing isoforms for
NBPF25P

Expression for NBPF25P Gene

mRNA expression in normal human tissues for NBPF25P Gene

NURSA nuclear receptor signaling pathways regulating expression of NBPF25P Gene:

NBPF25P
genes like me logo Genes that share expression patterns with NBPF25P: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NBPF25P Gene

Orthologs for NBPF25P Gene

Evolution for NBPF25P Gene

ENSEMBL:
Gene Tree for NBPF25P (if available)
TreeFam:
Gene Tree for NBPF25P (if available)

No data available for Orthologs for NBPF25P Gene

Paralogs for NBPF25P Gene

No data available for Paralogs for NBPF25P Gene

Variants for NBPF25P Gene

Sequence variations from dbSNP and Humsavar for NBPF25P Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs112052396 -- 145,607,628(-) CATTT(C/G)TGTGA intron-variant, upstream-variant-2KB
rs112579983 -- 145,604,758(-) TCTAC(C/T)CTCTG intron-variant
rs113985754 -- 145,609,413(-) GAAAA(G/T)GTGGT intron-variant, upstream-variant-2KB
rs114382697 -- 145,603,111(+) CAAGG(A/G)GATGA intron-variant
rs114827760 -- 145,603,094(+) CAGCA(C/T)GCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF25P Gene

Variant ID Type Subtype PubMed ID
esv3572342 CNV gain 25503493
nsv946273 CNV duplication 23825009
nsv946820 CNV duplication 23825009
nsv946825 CNV duplication 23825009

Relevant External Links for NBPF25P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF25P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF25P Gene

Disorders for NBPF25P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF25P Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NBPF25P

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBPF25P
genes like me logo Genes that share disorders with NBPF25P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF25P Gene

Publications for NBPF25P Gene

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for NBPF25P Gene

Sources for NBPF25P Gene

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