A total of 20,203 protein-coding genes and 17,871 non-coding genes were annotated.
The number of annotated curated transcripts increased by 17% and genes with two or more curated alternative variants increased by 8%.
The annotation includes 6,862 features and 2,075 GeneIDs for non-genic functional elements, such as regulatory regions and known structural elements. For example, see the opsin locus control region (OPSIN-LCR).
A study (PMID: 28158543) published in the July 2017 issue of Bioinformatics collects, classifies and analyzes single nucleotide variants (SNVs) that may affect response to currently approved drugs. They identified 2,640 SNVs of interest, most of which occur rarely in populations (minor allele frequency <0.01).
The researchers used protein sequence alignment tools and mined open data from multiple information resources accessed through E-utilities including PubChem Compound (Kim et al., 2016 PMID: 26400175), NCBI Gene (Maglott D, et al., 2014. PMID: 25355515), NCBI Protein (Sayers, 2013), MMDB (Madej et al., 2012 PMID: 22135289), PDB (Berman et al., 2000 PMID: 10592235), dbSNP (Sherry et al., 2001 PMID: 11125122), and ClinVar (Landrum et al., 2016 PMID: 26582918).
Questions, comments, and other feedback may be sent to Yanli Wang.
Last February, we added gene expression data to Gene. Now, you can access these data in a few new ways.
Figure 1. The expression teaser text from the human CYP2C19 gene record. CYP2C19 is a phase-one drug-metabolism gene expressed in liver and other organs/tissues involved in metabolizing drugs and other xenobiotics.
Expression pattern “teasers” in Summary
We’ve added a brief sentence describing the expression pattern to the Summary section. This teaser sentence describes tissue-specific expression of the gene, with a link to the complete description that appears in the Expression section.
For ease in accessing the orthology data subset, a new gene_orthologs FTP file has been created on the Gene FTP site. The file uses the same format as the gene_group file. As of January 31, 2018, the gene_group FTP file no longer includes orthologs.
The 2018 Nucleic Acids Research database issue features several papers from NCBI staff that cover the status and future of databases including CCDS, ClinVar, GenBank and RefSeq. These papers are also available on PubMed. To read an article, click on the PMID number listed below.