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Aliases for NBPF18P Gene

Aliases for NBPF18P Gene

  • NBPF Member 18, Pseudogene 2 3
  • Neuroblastoma Breakpoint Family, Member 18, Pseudogene 2

External Ids for NBPF18P Gene

Previous GeneCards Identifiers for NBPF18P Gene

  • GC01U901194
  • GC01P150253
  • GC01P151986

Summaries for NBPF18P Gene

Entrez Gene Summary for NBPF18P Gene

  • This pseudogene 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 NBPF18P Gene

NBPF18P (NBPF Member 18, Pseudogene) is a Pseudogene. Diseases associated with NBPF18P include Neuroblastoma.

Additional gene information for NBPF18P 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 NBPF18P Gene

Genomics for NBPF18P Gene

GeneHancer (GH) Regulatory Elements for NBPF18P Gene

Promoters and enhancers for NBPF18P Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I152013 Enhancer 0.7 ENCODE 0.8 -4.5 -4458 0.2 CTCF NFIB RAD21 SMC3 ZNF444 RUNX3 DEK ZNF654 HCFC1 GATAD2B THEM4 THEM5 S100A11 NBPF18P ENSG00000229021
GH01I152022 Enhancer 0.6 ENCODE dbSUPER 0.4 +5.8 5774 3.2 GATA3 GATA2 PIR45655 ENSG00000229021 S100A11 THEM4 RPTN HRNR LOC100132111 LOC105371442 ENSG00000240667 NBPF18P
GH01I152002 Enhancer 0.5 dbSUPER 0.4 -14.3 -14310 2.1 CTCF ZBTB6 ZNF449 ZNF341 SMC3 RAD21 FOXA1 ENSG00000229021 THEM4 THEM5 S100A11 ENSG00000252840 CGN S100A10 NBPF18P LOC105371441
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF18P on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF18P Gene

Genomic Locations for NBPF18P Gene
chr1:152,018,278-152,022,509
(GRCh38/hg38)
Size:
4,232 bases
Orientation:
Plus strand
chr1:151,967,007-152,015,250
(GRCh37/hg19)

Genomic View for NBPF18P Gene

Genes around NBPF18P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF18P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF18P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF18P Gene

Proteins for NBPF18P Gene

Post-translational modifications for NBPF18P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF18P Gene

Domains & Families for NBPF18P Gene

Gene Families for NBPF18P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF18P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF18P Gene

Function for NBPF18P Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF18P Gene

Localization for NBPF18P 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 NBPF18P Gene

Pathways & Interactions for NBPF18P Gene

SuperPathways for NBPF18P Gene

No Data Available

Interacting Proteins for NBPF18P Gene

Gene Ontology (GO) - Biological Process for NBPF18P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBPF18P Gene

Drugs & Compounds for NBPF18P Gene

No Compound Related Data Available

Transcripts for NBPF18P Gene

mRNA/cDNA for NBPF18P Gene

(3) Selected AceView cDNA sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF18P Gene

No ASD Table

Relevant External Links for NBPF18P Gene

GeneLoc Exon Structure for
NBPF18P
ECgene alternative splicing isoforms for
NBPF18P

Expression for NBPF18P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF18P Gene

mRNA differential expression in normal tissues according to GTEx for NBPF18P Gene

This gene is overexpressed in Testis (x38.9).

NURSA nuclear receptor signaling pathways regulating expression of NBPF18P Gene:

NBPF18P
genes like me logo Genes that share expression patterns with NBPF18P: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 NBPF18P Gene

Orthologs for NBPF18P Gene

No data available for Orthologs and Evolution for NBPF18P Gene

Paralogs for NBPF18P Gene

No data available for Paralogs for NBPF18P Gene

Variants for NBPF18P Gene

Sequence variations from dbSNP and Humsavar for NBPF18P Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000485315 -- 152,016,466(+) G/A upstream_transcript_variant
rs1000709016 -- 152,020,854(+) C/T intron_variant
rs1000759646 -- 152,016,730(+) C/T upstream_transcript_variant
rs1001390535 -- 152,017,803(+) G/A upstream_transcript_variant
rs1002195681 -- 152,017,461(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF18P Gene

Variant ID Type Subtype PubMed ID
nsv946389 CNV duplication 23825009
nsv1007097 CNV gain 25217958

Additional Variant Information for NBPF18P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF18P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF18P Gene

Disorders for NBPF18P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF18P Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF18P

genes like me logo Genes that share disorders with NBPF18P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF18P Gene

Publications for NBPF18P 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for NBPF18P Gene

Sources for NBPF18P Gene

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