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Aliases for NBPF18P Gene

Aliases for NBPF18P Gene

  • Neuroblastoma Breakpoint Family, Member 18, Pseudogene 2 3

External Ids for NBPF18P Gene

Previous GeneCards Identifiers for NBPF18P Gene

  • GC01U901194
  • GC01P150253

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, 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, Jun 2013]

GeneCards Summary for NBPF18P Gene

NBPF18P (Neuroblastoma Breakpoint Family, Member 18, Pseudogene) is a Pseudogene. Diseases associated with NBPF18P include congenital heart disease and neuroblastoma.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF18P Gene

Genomics for NBPF18P Gene

Genomic Location for NBPF18P Gene

Start:
151,994,531 bp from pter
End:
152,042,774 bp from pter
Size:
48,244 bases
Orientation:
Plus strand

Genomic View for NBPF18P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF18P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF18P Gene

No data available for Regulatory Elements 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 for NBPF18P Gene

Gene Families for NBPF18P Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NBPF18P Gene

Localization for NBPF18P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF18P Gene

Pathways 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 for NBPF18P Gene

Transcripts for NBPF18P Gene

mRNA/cDNA for NBPF18P Gene

(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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 for NBPF18P Gene

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

This gene is overexpressed in Testis (38.9).
genes like me logo Genes that share expressions with NBPF18P: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for NBPF18P Gene

Orthologs for NBPF18P Gene

Evolution for NBPF18P Gene

ENSEMBL:
Gene Tree for NBPF18P (if available)
TreeFam:
Gene Tree for NBPF18P (if available)

No data available for Orthologs 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 Sequence Context AA Info Type MAF
rs1826173 -- 152,022,225(-) TGTGG(C/T)CAAAT intron-variant
rs1965957 -- 152,016,557(-) GCCCT(C/T)CCAGA upstream-variant-2KB
rs1965958 -- 152,016,555(-) CCTTC(C/T)AGAGT upstream-variant-2KB
rs1967084 -- 152,020,612(-) TGGTT(C/T)CCACT intron-variant
rs1967085 -- 152,020,589(-) TTTGC(A/G)TTATG intron-variant

Relevant External Links for NBPF18P Gene

HapMap Linkage Disequilibrium report
NBPF18P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NBPF18P Gene

Disorders for NBPF18P Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NBPF18P Gene in MalaCards »

(3) Diseases for NBPF18P Gene including...

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

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links 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. (Mol. Biol. Evol. 2005) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for NBPF18P Gene

Sources for NBPF18P Gene

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