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Aliases for NBPF21P Gene

Aliases for NBPF21P Gene

  • NBPF Member 21, Pseudogene 2 3 5
  • Neuroblastoma Breakpoint Family, Member 21, Pseudogene 2

External Ids for NBPF21P Gene

Summaries for NBPF21P Gene

Entrez Gene Summary for NBPF21P Gene

  • This pseudogene on chromosome 3 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, Jun 2013]

GeneCards Summary for NBPF21P Gene

NBPF21P (NBPF Member 21, Pseudogene) is a Pseudogene. Diseases associated with NBPF21P include Neuroblastoma.

Additional gene information for NBPF21P 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 NBPF21P Gene

Genomics for NBPF21P Gene

Regulatory Elements for NBPF21P Gene

Enhancers for NBPF21P 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
GH03H036647 1.1 ENCODE dbSUPER 0.4 -11.5 -11474 3.7 PKNOX1 ATF1 JUN ZNF175 CEBPG BATF RFX5 FOSL1 ELK1 POLR2A NBPF21P GC03P036685
GH03H036677 1.3 Ensembl ENCODE dbSUPER 0.3 -41.3 -41342 4.1 TBP GTF2E2 TAL1 JUN ZNF175 CEBPG BATF RFX5 FOSL1 ZNF547 DCLK3 GC03P036685 NBPF21P
GH03H036645 0.5 dbSUPER 0.4 -8.5 -8461 1 ZNF766 ZNF175 ZNF507 MLH1 NBPF21P GC03P036685
GH03H036652 0.5 dbSUPER 0.4 -15.4 -15357 0.8 FOSL1 ZNF766 NFE2 ZFX NR2C2 NBPF21P GC03P036685
GH03H036662 0.5 dbSUPER 0.3 -25.8 -25769 2.3 JUND ATF3 HNF4A NFE2 RELA GC03P036685 NBPF21P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NBPF21P on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF21P Gene

Genomic Locations for NBPF21P Gene
chr3:36,616,006-36,637,797
(GRCh38/hg38)
Size:
21,792 bases
Orientation:
Minus strand
chr3:36,657,498-36,679,289
(GRCh37/hg19)

Genomic View for NBPF21P Gene

Genes around NBPF21P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF21P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF21P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF21P Gene

Proteins for NBPF21P Gene

Post-translational modifications for NBPF21P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF21P Gene

Domains & Families for NBPF21P Gene

Gene Families for NBPF21P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF21P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF21P Gene

Function for NBPF21P Gene

Phenotypes From GWAS Catalog for NBPF21P Gene

Animal Model Products

Clone 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 NBPF21P Gene

Localization for NBPF21P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for NBPF21P Gene

Pathways & Interactions for NBPF21P Gene

SuperPathways for NBPF21P Gene

No Data Available

Interacting Proteins for NBPF21P Gene

Gene Ontology (GO) - Biological Process for NBPF21P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF21P Gene

Drugs & Compounds for NBPF21P Gene

No Compound Related Data Available

Transcripts for NBPF21P Gene

mRNA/cDNA for NBPF21P Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF21P Gene

No ASD Table

Relevant External Links for NBPF21P Gene

GeneLoc Exon Structure for
NBPF21P
ECgene alternative splicing isoforms for
NBPF21P

Expression for NBPF21P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF21P Gene

NURSA nuclear receptor signaling pathways regulating expression of NBPF21P Gene:

NBPF21P
genes like me logo Genes that share expression patterns with NBPF21P: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF21P Gene

Orthologs for NBPF21P Gene

Evolution for NBPF21P Gene

ENSEMBL:
Gene Tree for NBPF21P (if available)
TreeFam:
Gene Tree for NBPF21P (if available)

No data available for Orthologs for NBPF21P Gene

Paralogs for NBPF21P Gene

No data available for Paralogs for NBPF21P Gene

Variants for NBPF21P Gene

Relevant External Links for NBPF21P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF21P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for NBPF21P Gene

Disorders for NBPF21P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF21P Gene - From: GeneCards

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

Relevant External Links for NBPF21P

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBPF21P
genes like me logo Genes that share disorders with NBPF21P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF21P Gene

Publications for NBPF21P 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. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 60

Products for NBPF21P Gene

Sources for NBPF21P Gene

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