Biochemical Function Evidence

Curation of biochemical function evidence is based on two options that are selected from a pull-down menu:

• A. The gene product performs a biochemical function shared with other known genes in the disease of interest. The biochemical function of both gene products must have been proven experimentally, and not just predicted. When awarding points in this evidence category, the other known gene(s) should have compelling evidence to support the gene-disease relationship.

• B. The gene product is consistent with the observed phenotype(s).

The curation interface for both options has a number of required fields, shown with an asterisk next to the field. For both, the required fields are:

• Experiment name is a free-text field; please choose a descriptive name for the experiment.

• Identified function of gene in this record requires an entry in either the Gene Ontology (GO) ID or the free text field. To aid in searching for the correct GO ID, there are three links provided; one to view existing GO annotations for the gene product, one that links to the OLS GO search, and one that links to QuickGO. Only choose terms from the Molecular Function (MF) or Biological Process (BP) domains and terms that have manual experimental evidence codes associated with them, e.g. IDA, IMP, IGI, IPI or IEP.

• Evidence for above function is a free text field where you should describe the evidence supporting the function(s) you chose.

For option A, the additional required fields are:

• Other gene(s) with same function as gene in record requires entry of a valid HGNC gene name.

• Evidence that above gene(s) share same function with gene in record is a free text field where you should describe the evidence for shared function.

For option B, the additional required fields are:

• Phenotype(s) consistent with function requires an entry in either the HPO or free text fields.

• Explanation of how phenotype is consistent with disease

Finally, select whether the biochemical evidence should be scored, brought up for review by the GCEP, or contradicts the gene-disease association.