Evidence map›Paper›PMID 29982784›Full record

ArticleNucleic acids research2018

Loose ends: almost one in five human genes still have unresolved coding status.

Federico Abascal, David Juan, Irwin Jungreis, Manolis Kellis, Laura Martinez, Maria Rigau, Jose Manuel Rodriguez, Jesus Vazquez, Michael L Tress

Erratum issuedAbstract read
In one paragraph

Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed.

  1. Article
  2. Article
  3. The state of the human coding gene catalogues.Database : the journal of biological databases and curation · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Single-molecule fluorescence methods for protein biomarker analysis.Analytical and bioanalytical chemistry · 2023
    Review
  11. Article
  12. LAFITE Reveals the Complexity of Transcript Isoforms in Subcellular Fractions.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Profit versus Quality: The Enigma of Scientific Wellness.Journal of personalized medicine · 2022
    Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Federico AbascalWellcome Trust Sanger Institute, Hinxton CB10 1SA, Cambridgeshire, UK.
David JuanComparative Genomics Lab, Instituto de Biologica Evolutiva, Universitat Pompeu Fabra, Barcelona, Spain.
Irwin JungreisMIT Computer Science and Artificial Intelligence Laboratory, Cambridge, MA and Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Manolis Kellis
Laura MartinezBioinformatics Unit, Spanish National Cancer Research Centre, Madrid, Spain.
Maria RigauComputational Biology Life Sciences Group, Barcelona Supercomputing Center, Barcelona, Spain.
Jose Manuel RodriguezCardiovascular Proteomics Laboratory, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.
Jesus VazquezCardiovascular Proteomics Laboratory, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.
Michael L TressBioinformatics Unit, Spanish National Cancer Research Centre, Madrid, Spain.

Funding

GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3M
Regulatory Morif Discovery in the Human Genome Using Comparative GenomicsR01HG004037 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2007 to 2015
$3.9M
NHGRI NIH HHS R01 HG004037NHGRI NIH HHS U41 HG007234
6 · The paper itself

Abstract

Seventeen years after the sequencing of the human genome, the human proteome is still under revision. One in eight of the 22 210 coding genes listed by the Ensembl/GENCODE, RefSeq and UniProtKB reference databases are annotated differently across the three sets. We have carried out an in-depth investigation on the 2764 genes classified as coding by one or more sets of manual curators and not coding by others. Data from large-scale genetic variation analyses suggests that most are not under protein-like purifying selection and so are unlikely to code for functional proteins. A further 1470 genes annotated as coding in all three reference sets have characteristics that are typical of non-coding genes or pseudogenes. These potential non-coding genes also appear to be undergoing neutral evolution and have considerably less supporting transcript and protein evidence than other coding genes. We believe that the three reference databases currently overestimate the number of human coding genes by at least 2000, complicating and adding noise to large-scale biomedical experiments. Determining which potential non-coding genes do not code for proteins is a difficult but vitally important task since the human reference proteome is a fundamental pillar of most basic research and supports almost all large-scale biomedical projects.

Indexed as

GenesAntibodiesDNA Copy Number VariationsGenetic VariationGenome, HumanHumansMolecular Sequence AnnotationProteinsPseudogenesAntibodiesProteins

Identifiers

PMID29982784
PMCPMC6101605

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.