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Aliases for NBPF13P Gene

Aliases for NBPF13P Gene

  • NBPF Member 13, Pseudogene 2 3 5
  • Neuroblastoma Breakpoint Family, Member 13, Pseudogene 2

External Ids for NBPF13P Gene

Previous GeneCards Identifiers for NBPF13P Gene

  • GC01U901191
  • GC01M145023
  • GC01M146557
  • GC01M119968
  • GC01M146562
  • GC01M146495
  • GC01M147021

Summaries for NBPF13P Gene

Entrez Gene Summary for NBPF13P 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, May 2013]

GeneCards Summary for NBPF13P Gene

NBPF13P (NBPF Member 13, Pseudogene) is a Pseudogene. Diseases associated with NBPF13P include Neuroblastoma.

Additional gene information for NBPF13P 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 NBPF13P Gene

Genomics for NBPF13P Gene

GeneHancer (GH) Regulatory Elements for NBPF13P Gene

Promoters and enhancers for NBPF13P Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I147504 Enhancer 0.9 Ensembl ENCODE 6.4 -390.6 -390633 1.7 CTCF SIN3A ZIC2 RAD21 ZKSCAN1 E2F1 ZFHX2 ELK1 POLR2A PATZ1 BCL9 NBPF13P CHD1L RNU1-122P ENSG00000237188 PIR38166 LINC00624
GH01I147105 Enhancer 0.6 ENCODE 0.4 +7.8 7762 2.1 SOX6 TAL1 CBFA2T3 ZEB2 TCF12 GATA3 CTBP1 NCOR1 IKZF1 CBFA2T2 CHD1L ENSG00000237188 PRKAB2 NBPF13P ENSG00000283342 RNVU1-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF13P on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF13P Gene

Genomic Locations for NBPF13P Gene
14,865 bases
Minus strand

Genomic View for NBPF13P Gene

Genes around NBPF13P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF13P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF13P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF13P Gene

Proteins for NBPF13P Gene

Post-translational modifications for NBPF13P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF13P Gene

Domains & Families for NBPF13P Gene

Gene Families for NBPF13P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF13P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF13P Gene

Function for NBPF13P Gene

Phenotypes From GWAS Catalog for NBPF13P 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 NBPF13P Gene

Localization for NBPF13P 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 NBPF13P Gene

Pathways & Interactions for NBPF13P Gene

SuperPathways for NBPF13P Gene

No Data Available

Interacting Proteins for NBPF13P Gene

Gene Ontology (GO) - Biological Process for NBPF13P Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF13P Gene

Drugs & Compounds for NBPF13P Gene

No Compound Related Data Available

Transcripts for NBPF13P Gene

mRNA/cDNA for NBPF13P Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF13P Gene

No ASD Table

Relevant External Links for NBPF13P Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF13P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF13P Gene

mRNA differential expression in normal tissues according to GTEx for NBPF13P Gene

This gene is overexpressed in Muscle - Skeletal (x9.3) and Heart - Left Ventricle (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of NBPF13P Gene:

genes like me logo Genes that share expression patterns with NBPF13P: 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 NBPF13P Gene

Orthologs for NBPF13P Gene

Evolution for NBPF13P Gene

Gene Tree for NBPF13P (if available)
Gene Tree for NBPF13P (if available)

No data available for Orthologs for NBPF13P Gene

Paralogs for NBPF13P Gene

No data available for Paralogs for NBPF13P Gene

Variants for NBPF13P Gene

Sequence variations from dbSNP and Humsavar for NBPF13P Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000893956 -- 147,106,658(-) T/C intron_variant
rs1001425862 -- 147,115,254(-) T/C upstream_transcript_variant
rs1002297907 -- 147,110,902(-) A/T intron_variant
rs1002473255 -- 147,106,576(-) G/A/T intron_variant
rs1002593865 -- 147,109,750(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF13P Gene

Variant ID Type Subtype PubMed ID
dgv327n100 CNV gain 25217958
dgv66e199 CNV deletion 23128226
esv2761299 CNV gain+loss 21179565
nsv1003688 CNV gain 25217958
nsv1005055 CNV loss 25217958
nsv1077657 CNV deletion 25765185
nsv1121713 CNV deletion 24896259
nsv1132304 CNV duplication 24896259
nsv509457 CNV insertion 20534489
nsv510962 OTHER complex 20534489
nsv946299 CNV duplication 23825009
nsv946300 CNV duplication 23825009
nsv946301 CNV duplication 23825009
nsv946832 CNV duplication 23825009

Additional Variant Information for NBPF13P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF13P Gene

Disorders for NBPF13P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF13P Gene - From: GeneCards

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

Additional Disease Information for NBPF13P

genes like me logo Genes that share disorders with NBPF13P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF13P Gene

Publications for NBPF13P 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. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 58
  3. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer JL … O'Brien SJ (The Journal of infectious diseases 2011) 3 58
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3 58

Products for NBPF13P Gene

Sources for NBPF13P Gene

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