======= NBPF20 ======= == Gene Information == * **Official Symbol**: NBPF20 * **Official Name**: NBPF member 20 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=100288142|100288142]] * **UniProt**: [[https://www.uniprot.org/uniprot/P0DPF2|P0DPF2]] * **Interactions**: [[https://thebiogrid.org/search.php?search=NBPF20&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NBPF20|Open PubMed]] * **OMIM**: [[https://omim.org/entry/614007|Open OMIM]] == Function Summary == * **Entrez Summary**: 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, Mar 2014]. * **UniProt Summary**: N/A |DUF1220| No GO term information is available for this gene. \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: N/A ^Tissue^Fraction Of Cell Lines Where Essential^ == Essentiality in NALM6 == * **Essentiality Rank**: 13797 * **Expression level (log2 read counts)**: 6.02 {{:chemogenomics:nalm6 dist.png?nolink |}}