[Bioc-devel] Bioconductor 3.19 db0s, OrgDbs, and TxDbs now available

James W. MacDonald jm@cdon @end|ng |rom uw@edu
Thu Mar 28 16:31:51 CET 2024


There are EnsDbs for Ensembl builds 87-111 that Johannes Rainier submits to the AnnotationHub for those who want to use Ensembl mappings. And a direct build of a TxDb using a UCSC GTF file has the chrM genes as well.

> ensdb <- hub[["AH100643"]]
> subsetByOverlaps(transcriptsBy(ensdb), GRanges("MT:1-16569"))
GRangesList object of length 37:
$ENSG00000198695
GRanges object with 1 range and 11 metadata columns:
      seqnames      ranges strand |           tx_id     tx_biotype
         <Rle>   <IRanges>  <Rle> |     <character>    <character>
  [1]       MT 14149-14673      - | ENST00000361681 protein_coding
      tx_cds_seq_start tx_cds_seq_end         gene_id tx_support_level
             <integer>      <integer>     <character>        <integer>
  [1]            14149          14673 ENSG00000198695             <NA>
          tx_id_version gc_content tx_external_name tx_is_canonical
            <character>  <numeric>      <character>       <integer>
  [1] ENST00000361681.2    42.6667       MT-ND6-201               1
              tx_name
          <character>
  [1] ENST00000361681
  -------
  seqinfo: 457 sequences (1 circular) from GRCh38 genome
<snip>

> z <- makeTxDbFromGFF(https://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/genes/hg38.knownGene.gtf.gz)
Import genomic features from the file as a GRanges object ... trying URL 'https://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/genes/hg38.knownGene.gtf.gz'
Content type 'application/x-gzip' length 38959957 bytes (37.2 MB)
==================================================
downloaded 37.2 MB

OK
Prepare the 'metadata' data frame ... OK
Make the TxDb object ... OK
Warning message:
In .get_cds_IDX(mcols0$type, mcols0$phase) :
  The "phase" metadata column contains non-NA values for features of type
  stop_codon. This information was ignored.
> subsetByOverlaps(transcriptsBy(z), GRanges("chrM:1-16569"))
GRangesList object of length 37:
$ENST00000386347.1
GRanges object with 1 range and 2 metadata columns:
      seqnames    ranges strand |     tx_id           tx_name
         <Rle> <IRanges>  <Rle> | <integer>       <character>
  [1]     chrM 3230-3304      + |    252881 ENST00000386347.1
  -------
  seqinfo: 439 sequences (1 circular) from an unspecified genome; no seqlengths
<snip>

As with most human endeavors, the weight of history hangs heavy on Bioconductor, and it’s often easier to understand how the machine works rather than trying to change things that are set in stone. I mean I have tried many (many) times to get affy removed in lieu of oligo, to no avail.

From: Tim Triche, Jr. <tim.triche using gmail.com>
Sent: Thursday, March 28, 2024 10:40 AM
To: James W. MacDonald <jmacdon using uw.edu>
Cc: Vincent Carey <stvjc using channing.harvard.edu>; bioc-devel using r-project.org
Subject: Re: [Bioc-devel] Bioconductor 3.19 db0s, OrgDbs, and TxDbs now available

is this an argument in favor of using ENSEMBL gene and transcript IDs rather than ENTREZ or UCSC? Or just changing the way that the databases are keyed? There really ought not to be transcripts for a gene on a different chromosome from the
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is this an argument in favor of using ENSEMBL gene and transcript IDs rather than ENTREZ or UCSC?  Or just changing the way that the databases are keyed?  There really ought not to be transcripts for a gene on a different chromosome from the gene, although the MHC and KIR loci (with alt contigs) somewhat force the issue for that.  (we could discuss graph genomes here, but we aren't going to do that, because all gene->transcript->contig mappings start to break)

Omission of an entire chromosome seems... bad?  Regardless of the technical reason why.  There are arguments in favor of e.g. gene -> transcript -> contig where each relationship is potentially 1:many, but if chrM can't be sorted out then I am dubious that more complicated mappings can be efficiently handled.  chrM is particularly weird in that it can have multiple haplotypes (i.e. contigs) even within the same cell, but at some point, simplifications are merited


--t


On Thu, Mar 28, 2024 at 10:12 AM James W. MacDonald <jmacdon using uw.edu<mailto:jmacdon using uw.edu>> wrote:
As well as

> subsetByOverlaps(transcripts(Homo.sapiens), GRanges("chrM:1-16569"))
'select()' returned 1:1 mapping between keys and columns
GRanges object with 37 ranges and 2 metadata columns:
       seqnames      ranges strand |          TXID            TXNAME
          <Rle>   <IRanges>  <Rle> | <IntegerList>   <CharacterList>
   [1]     chrM     577-647      + |        252799 ENST00000387314.1
   [2]     chrM    648-1601      + |        252800 ENST00000389680.2
   [3]     chrM   1602-1670      + |        252801 ENST00000387342.1
   [4]     chrM   1671-3229      + |        252802 ENST00000387347.2
   [5]     chrM   3230-3304      + |        252803 ENST00000386347.1
   ...      ...         ...    ... .           ...               ...
  [33]     chrM   5826-5891      - |        252831 ENST00000387409.1
  [34]     chrM   7446-7514      - |        252832 ENST00000387416.2
  [35]     chrM 14149-14673      - |        252833 ENST00000361681.2
  [36]     chrM 14674-14742      - |        252834 ENST00000387459.1
  [37]     chrM 15956-16023      - |        252835 ENST00000387461.2
  -------
  seqinfo: 711 sequences (1 circular) from hg38 genome

However

> subsetByOverlaps(transcriptsBy(Homo.sapiens), GRanges("chrM:1-16569"))
GRangesList object of length 0:
<0 elements>

And

> subsetByOverlaps(transcripts(Homo.sapiens, columns = c("GENEID","SYMBOL")), GRanges("chrM:1-16569"))
'select()' returned 1:1 mapping between keys and columns
GRanges object with 37 ranges and 2 metadata columns:
       seqnames      ranges strand |          GENEID          SYMBOL
          <Rle>   <IRanges>  <Rle> | <CharacterList> <CharacterList>
   [1]     chrM     577-647      + |            <NA>            <NA>
   [2]     chrM    648-1601      + |            <NA>            <NA>
   [3]     chrM   1602-1670      + |            <NA>            <NA>
   [4]     chrM   1671-3229      + |            <NA>            <NA>
   [5]     chrM   3230-3304      + |            <NA>            <NA>
   ...      ...         ...    ... .             ...             ...
  [33]     chrM   5826-5891      - |            <NA>            <NA>
  [34]     chrM   7446-7514      - |            <NA>            <NA>
  [35]     chrM 14149-14673      - |            <NA>            <NA>
  [36]     chrM 14674-14742      - |            <NA>            <NA>
  [37]     chrM 15956-16023      - |            <NA>            <NA>
  -------
  seqinfo: 711 sequences (1 circular) from hg38 genome

Everything is mapped via the GENEID, and if you query the UCSC genome browser for hg38/knownGene, asking for gene name, known gene ID and gene symbol, you will get the first and last but not the middle.



-----Original Message-----
From: Bioc-devel <bioc-devel-bounces using r-project.org<mailto:bioc-devel-bounces using r-project.org>> On Behalf Of Vincent Carey
Sent: Thursday, March 28, 2024 10:00 AM
To: Tim Triche, Jr. <tim.triche using gmail.com<mailto:tim.triche using gmail.com>>
Cc: bioc-devel using r-project.org<mailto:bioc-devel using r-project.org>
Subject: Re: [Bioc-devel] Bioconductor 3.19 db0s, OrgDbs, and TxDbs now available

winging it here tim

> select(Homo.sapiens, keys="ENSG00000198727", keytype="ENSEMBL",
columns=c("GENENAME", "GENEID", "CDSCHROM", "SYMBOL")) 'select()' returned 1:1 mapping between keys and columns
          ENSEMBL     GENENAME SYMBOL CDSCHROM GENEID
1 ENSG00000198727 cytochrome b   CYTB     <NA>   4519
> select(Homo.sapiens, keys= "MTCYBP1", keytype="SYMBOL",
columns=c("GENENAME", "GENEID", "CDSCHROM", "SYMBOL")) 'select()' returned 1:1 mapping between keys and columns
   SYMBOL            GENENAME CDSCHROM    GENEID
1 MTCYBP1 MT-CYB pseudogene 1     <NA> 100499418

relevant?

On Thu, Mar 28, 2024 at 9:17 AM Tim Triche, Jr. <tim.triche using gmail.com<mailto:tim.triche using gmail.com>>
wrote:

> Hi Lori and fellow maintainers,
>
> I had a strange experience yesterday where I pulled down genes and
> transcripts from Homo.sapiens, only to discover that all mitochondrial
> encoded genes (MT-CYB, MT-CO2, etc) were missing.
>
> Is there an historical reason why this is so? Obviously these
> transcripts are physiologically important, but beyond that, they’re
> also used all the time in single cell sequencing to estimate viability.
>
> Best,
>
> --t
>
> > On Mar 28, 2024, at 8:47 AM, Kern, Lori via Bioc-devel <
> bioc-devel using r-project.org<mailto:bioc-devel using r-project.org>> wrote:
> >
> > Hello Bioconductor community,
> >
> > The newest db0, OrgDb, and TxDb annotation packages for the upcoming
> Bioconductor 3.19 release are up and available for download in the
> devel version of Bioconductor.
> >
> > The deadline for submitting contributed annotation packages will be
> Wednesday April 17 th.
> >
> > The new db0 packages are:
> >
> > anopheles.db0_3.19.0.tar.gz
> > arabidopsis.db0_3.19.0.tar.gz
> > bovine.db0_3.19.0.tar.gz
> > canine.db0_3.19.0.tar.gz
> > chicken.db0_3.19.0.tar.gz
> > chimp.db0_3.19.0.tar.gz
> > ecoliK12.db0_3.19.0.tar.gz
> > ecoliSakai.db0_3.19.0.tar.gz
> > fly.db0_3.19.0.tar.gz
> > human.db0_3.19.0.tar.gz
> > malaria.db0_3.19.0.tar.gz
> > mouse.db0_3.19.0.tar.gz
> > pig.db0_3.19.0.tar.gz
> > rat.db0_3.19.0.tar.gz
> > rhesus.db0_3.19.0.tar.gz
> > worm.db0_3.19.0.tar.gz
> > xenopus.db0_3.19.0.tar.gz
> > yeast.db0_3.19.0.tar.gz
> > zebrafish.db0_3.19.0.tar.gz
> >
> > The new OrgDb packages are:
> >
> > GO.db_3.19.0.tar.gz
> > org.Ag.eg.db_3.19.0.tar.gz
> > org.At.tair.db_3.19.0.tar.gz
> > org.Bt.eg.db_3.19.0.tar.gz
> > org.Ce.eg.db_3.19.0.tar.gz
> > org.Cf.eg.db_3.19.0.tar.gz
> > org.Dm.eg.db_3.19.0.tar.gz
> > org.Dr.eg.db_3.19.0.tar.gz
> > org.EcK12.eg.db_3.19.0.tar.gz
> > org.EcSakai.eg.db_3.19.0.tar.gz
> > org.Gg.eg.db_3.19.0.tar.gz
> > org.Hs.eg.db_3.19.0.tar.gz
> > org.Mm.eg.db_3.19.0.tar.gz
> > org.Mmu.eg.db_3.19.0.tar.gz
> > org.Pt.eg.db_3.19.0.tar.gz
> > org.Rn.eg.db_3.19.0.tar.gz
> > org.Sc.eg.db_3.19.0.tar.gz
> > org.Ss.eg.db_3.19.0.tar.gz
> > org.Xl.eg.db_3.19.0.tar.gz
> > Orthology.eg.db_3.19.0.tar.gz
> > PFAM.db_3.19.0.tar.gz
> >
> > The new TxDb packages are:
> >
> > TxDb.Hsapiens.UCSC.hg38.refGene_3.19.0.tar.gz
> > TxDb.Mmusculus.UCSC.mm39.refGene_3.19.0.tar.gz
> >
> > Thank you
> >
> >
> > Lori Shepherd - Kern
> >
> > Bioconductor Core Team
> >
> > Roswell Park Comprehensive Cancer Center
> >
> > Department of Biostatistics & Bioinformatics
> >
> > Elm & Carlton Streets
> >
> > Buffalo, New York 14263
> >
> >
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