We’ve added several new enhancements to the RefSeq Functional Elements dataset, which provides genome annotation and richly annotated RefSeq and Gene records for experimentally validated non-genic functional regions in human and mouse. Read on to see what we’ve done!
We have updated our annotation for the mouse reference genome, GRCm38.p6. It includes:
- Markup for RefSeq Select, which identifies one representative transcript and protein for every protein-coding gene. Find features with the ‘tag=RefSeq Select’ attribute in GFF3 for those analyses where you need just a single transcript or protein for each coding gene. You can also find these RefSeqs in Entrez using the query ‘refseq_select[filter].’
- Annotation updates made in the last year for over 2000 genes, including over 4000 new or revised curated transcripts. This includes targeted curation to ensure we are representing well-expressed and conserved transcripts for inclusion in RefSeq Select.
- Annotation of over 2300 regulatory and other functional element features from over 900 biological regions. These are now identified with the source “RefSeqFE” in GFF3 column 2 for easy parsing.
When citing, please refer to this annotation as NCBI Mus musculus Annotation Release 108.20200622. You can find the data in:
- NCBI Datasets
- NCBI Assembly
- Genomes FTP
- NCBI’s Genome Data Viewer
- BLAST nr/nt and custom RefSeq databases
This is our last update before upgrading to the new major assembly version just released by the Genome Reference Consortium, GRCm39. We expect to be cranking up our compute farm in the next few weeks to produce a full annotation based on our latest curation and extensive short (Illumina) and long (PacBio IsoSeq and nanopore) RNA-seq data, which should be released later this summer. Stay tuned!
Release 3.0 of the NCBI protein family models used by the Prokaryotic Genome Annotation Pipeline (PGAP) is now available from our FTP site. You can search this collection of hidden Markov models (HMMs) against your favorite prokaryotic proteins to identify their function using the HMMER sequence analysis package.
The 3.0 release contains 17,350 models: 12,864 HMMs built at NCBI (111 more than in release 2.0) and 4,486 TIGRFAM HMMs. In addition, since release 2.0, we have assigned product names to over 2,000 Pfam HMMs, bringing the total to 6,698 Pfam HMMs with names that can be transferred by PGAP to the annotated proteins they hit. You can access a table of these product names from the release directory.Figure 1. The evidence for name assignment for type III secretion system (T3SS) translocon subunit SctB (NF038055) showing the protein matches. Species-specific names for this highly variable component of T3SS include YopD, EspB, IpaC, SipC, etc. Instead, we used the standard moniker for core genes of T3SS, Sct, Secretion and cellular translocation (PMID 26520801, PMID 9618447) providing a unified nomenclature for this secretion system. Continue reading “Updated protein family models used by PGAP available for download”
This full release incorporates genomic, transcript, and protein data available as of July 6, 2020, and contains 246,016,651 records, including 178,304,046 proteins, 32,462,009 RNAs, and sequences from 103,293 organisms. The release is provided in several directories as a complete dataset and also as divided by logical groupings.
Updated human genome Annotation Release 109.20200522
Updated Annotation Release 109.20200522 is an update of NCBI Homo sapiens Annotation Release 109. The annotation report for 109.20200522 is available here. The annotation products are available in the sequence databases and on the FTP site.
Updated mouse genome Annotation Release 108.20200622
Updated Annotation Release 108.20200622 is an update of NCBI Mus musculus Annotation Release 108. The annotation report for 108.20200622 is available here. The annotation products are available in the sequence databases and on the FTP site.
This update precedes the expected release of a full assembly update for the mouse GRCm38.p6 reference assembly by the GRC in 2020. We anticipate updating the mouse RefSeq annotation to the new GRCm39 assembly later this year, for either RefSeq FTP Release 202 or 203.
- Acipenser ruthenus (sterlet)
- Arvicanthis niloticus (African grass rat)
- Cannabis sativa (eudicot)
- Crassostrea gigas (Pacific oyster)
- Cyclopterus lumpus (lumpfish)
- Drosophila albomicans (fly)
- Drosophila guanche (fly)
- Drosophila innubila (fly)
- Esox lucius (northern pike)
- Gymnodraco acuticeps (bony fish)
- Hippoglossus hippoglossus (Atlantic halibut)
- Marmota flaviventris (yellow-bellied marmot)
- Melopsittacus undulatus (budgerigar)
- Osmia lignaria (orchard mason bee)
- Pangasianodon hypophthalmus (striped catfish)
- Pantherophis guttatus (snake)
- Periophthalmus magnuspinnatus (bony fish)
- Prunus dulcis (almond)
- Pseudochaenichthys georgianus (South Georgia icefish)
- Setaria viridis (monocot)
- Thalassophryne amazonica (bony fish)
- Thrips palmi (thrip)
- Trematomus bernacchii (emerald rockcod)
- Zea mays (maize)
See more details on the Eukaryotic RefSeq Genome Annotation Status page.
Previously we wrote about improvements to Drosophila annotations in RefSeq. We’re excited to report that we’re also improving how we compute and report orthology data for fish and insects to help you find evolutionarily related genes across species. Currently when we annotate a vertebrate genome using our in-house eukaryotic genome annotation pipeline, we have a robust process that identifies 1:1 orthologs vs human using a combination of BLAST comparisons and local synteny. These results are available in NCBI Gene and our new Ortholog pages, and also on Gene’s FTP site. We also use the data to apply human gene and protein names to orthologs in other species, providing a very rich annotation for hundreds of vertebrates.
For fish, we’re now using a two-layer process. First, most of the fish now have 1:1 orthologs identified vs zebrafish, which typically results in identifying 50% more orthologs. Second, if we’ve identified a human ortholog for the zebrafish gene, then we also report the human gene. We’ve also switched primarily to applying gene symbols and names from zebrafish instead of human, mostly provided by the Zebrafish Information Network (ZFIN), to other fish orthologs. The end result is more ortholog connections and better nomenclature. For example, many fish have two related homeobox genes meis2a and meis2b, compared to the single MEIS2 gene in human. Our updated process has allowed us to identify and properly name meis2a and meis2b in 73 and 40 fish species, respectively.
This full release incorporates genomic, transcript, and protein data available as of May 4, 2020, and contains 237,381,664 records, including 171,643,729 proteins, 31,244,247 RNAs, and sequences from 100,605 organisms. The release is provided in several directories as a complete dataset and also as divided by logical groupings.
The number of organisms in RefSeq crosses 100,000!
The current RefSeq release contains 100,605 distinct species or taxons, with a net increase of 763 species since Release 99. This milestone coincides with the 100th release though the current release number is 200 (see below). Note that there is a decrease in the number of species for prokaryotes (bacteria and archaea) due to a clean-up that mainly removed unclassified bacteria, and assemblies from Metagenome-Assembled Genomes (MAGs).
The FTP release number has skipped to 200
As previously announced, NCBI’s Reference Sequence (RefSeq) FTP release number has incremented to 200 for this release, and skipped over the numbers 100-199. The previous, March 2020 release, was release 99. This change is to avoid overlapping with the release numbers of the independently numbered RefSeq annotation releases for the eukaryotic genomes we annotate, which are currently in the range 100-109, for example Mus musculus Annotation Release 108.
NCBI Protein Families
A new release of the NCBI protein families profiles used by PGAP (the Prokaryotic Genome Annotation Pipeline) is now available. You can search this collection of Hidden Markov models (HMM) against your favorite prokaryotic proteins to identify their function using hmmer.
Recalculation of Prokaryotic Reference and Representative Genome Assemblies
We have updated the collection of reference and representative assemblies for Bacteria and Archaea to better reflect the taxonomic breadth of the prokaryotes in RefSeq. We have selected one reference or representative assembly for every species based on several criteria including contiguity, completeness, and whether the assembly is from type material.
Future change: Mouse Reference Assembly Update
A full assembly update for the mouse GRCm38.p6 reference assembly is expected to be released in 2020 by the GRC. We anticipate updating the mouse RefSeq annotation to the new GRCm39 assembly this summer, for either RefSeq FTP Release 201 or 202.
Are you interested in comparative genomics or other studies using Drosophila genomics?
Then don’t miss our online poster #568A at TAGC 2020 Online (no meeting registration required). Also, tune in to the online Q&A session on Monday, April 27 at 12:00 – 12:30 pm EDT.
What’s happening? In coordination with FlyBase, we are transitioning almost all of the RefSeq Drosophila assemblies to annotation produced primarily by NCBI’s eukaryotic genome annotation pipeline. We’ll continue to use the FlyBase annotation for Drosophila melanogaster (soon to be updated to Release 6.32), but we’ll annotate the other species using available RNA-seq datasets and our latest software. This will allow us to provide consistent, high-quality annotations across the full spectrum of Drosophila species, and also rapidly provide annotations as new high-quality assemblies become available. Another benefit is that these annotations will be available in the full suite of NCBI resources, including nucleotide, protein, BLAST, Gene, Genome Data Viewer, Genomes, Assembly, and more. You can download these annotation data from the NCBI genomes FTP site or you can try the new NCBI Datasets tool. By special request, we’re making orthology data relative to D. melanogaster available on the Gene FTP site, and plan to expose that data in our public pages in the future.
We have updated the collection of representative and reference assemblies for Bacteria and Archaea to better reflect the taxonomic breadth of the prokaryotes in RefSeq. We chose the 11,478 representative assemblies in the new collection from the 180,000+ prokaryotic assemblies in RefSeq today. We have selected one representative or reference assembly for every species based on several criteria including contiguity, completeness and whether the assembly is from type material. We have also updated the reference and representative microbial Blast database to reflect these changes. This reference and representative set will be updated three times a year to reflect changes in RefSeq. In addition, as we announced on Feb 14, we have reduced the number of reference genome assemblies — the subset of representative assemblies with annotation provided by outside experts — to 15. See the list in our previous post . We have re-annotated the 104 assemblies that are no longer reference with or Prokaryotic Genome Annotations Pipel (PGAP).