2026-08-29T14:17:34Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/65382024-10-31T11:40:05Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Abascal, Federico
author
Juan, David
author
Jungreis, Irwin
author
Martinez, Laura
author
Rigau, Maria
author
Rodriguez, Jose Manuel
author
Vazquez, Jesus
author
Tress, Michael L.
funder
National Institutes of Health (Estados Unidos)
2018-10-26T07:59:26Z
2018-10-26T07:59:26Z
2018
Nucleic Acids Res. 2018; 46(14):7070-7084
10.1093/nar/gky587
1362-4962
0305-1048
Nucleic Acids Research
29982784
http://hdl.handle.net/20.500.12105/6538
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.
eng
HUMAN GENOME
EVOLUTIONARY INFORMATION
FUNCTIONALLY IMPORTANT
INTEGRATED MAP
PROTEOME
PREDICTION
TOPOLOGY
DATABASE
PROJECT
NUMBER
Loose ends: almost one in five human genes still have unresolved coding status
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