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Aliases for NBPF13P Gene

Aliases for NBPF13P Gene

  • Neuroblastoma Breakpoint Family, Member 13, Pseudogene 2 3

External Ids for NBPF13P Gene

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, 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, May 2013]

GeneCards Summary for NBPF13P Gene

NBPF13P (Neuroblastoma Breakpoint Family, Member 13, Pseudogene) is a Pseudogene. Diseases associated with NBPF13P include neuroblastoma and schizophrenia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF13P Gene

Genomics for NBPF13P Gene

Genomic Location for NBPF13P Gene

Start:
147,021,320 bp from pter
End:
147,124,525 bp from pter
Size:
103,206 bases
Orientation:
Minus strand

Genomic View for NBPF13P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF13P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF13P Gene

No data available for Regulatory Elements 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 for NBPF13P Gene

Gene Families for NBPF13P Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family
genes like me logo Genes that share domains with NBPF13P: view

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

Function for NBPF13P 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 NBPF13P Gene

Localization for NBPF13P Gene

No data available for Gene Ontology (GO) - Cellular Components for NBPF13P Gene

Pathways for NBPF13P Gene

SuperPathways for NBPF13P Gene

No Data Available

Interacting Proteins for NBPF13P Gene

Gene Ontology (GO) - Biological Process for NBPF13P Gene

None

No data available for Pathways by source for NBPF13P Gene

Transcripts for NBPF13P Gene

mRNA/cDNA for NBPF13P Gene

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

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

No ASD Table

Relevant External Links for NBPF13P Gene

GeneLoc Exon Structure for
NBPF13P
ECgene alternative splicing isoforms for
NBPF13P

Expression for NBPF13P Gene

mRNA expression in normal human tissues for NBPF13P Gene

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

This gene is overexpressed in Muscle - Skeletal (9.3) and Heart - Left Ventricle (4.1).
genes like me logo Genes that share expressions with NBPF13P: view

Orthologs for NBPF13P Gene

Evolution for NBPF13P Gene

ENSEMBL:
Gene Tree for NBPF13P (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs13922 -- 147,113,496(-) TACAG(A/C)AGTGC nc-transcript-variant
rs470979 -- 147,112,995(-) ACAAT(A/C)AGGCA intron-variant
rs519431 -- 147,113,149(+) CCCTT(C/G)AGTCC intron-variant
rs520280 -- 147,113,217(-) GGCAA(C/G)CTGAG intron-variant
rs552044 -- 147,113,163(+) TCATA(C/G)TTCTG intron-variant

Relevant External Links for NBPF13P Gene

HapMap Linkage Disequilibrium report
NBPF13P

No data available for Structural Variations from Database of Genomic Variants (DGV) for NBPF13P Gene

Disorders for NBPF13P Gene

(2) MalaCards Diseases for NBPF13P Gene

Search for NBPF13P Gene in MalaCards »
genes like me logo Genes that share disorders with NBPF13P: view

No data available for UniProtKB/Swiss-Prot 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. (Mol. Biol. Evol. 2005) 2 3
  2. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3
  3. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer J.L. … O'Brien S.J. (J. Infect. Dis. 2011) 3
  4. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3

Products for NBPF13P Gene

Sources for NBPF13P Gene

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