Hello everybody,
I once found an excel sheet with all human genes and their summary function/description for each from NCBI and Uniprot. I believe that GO terms and other annotations tools are often too broad and would love to have access to a file that I can manipulate with all functions in details, predicted and potential ones too.
In addition, I have several set of DE genes and I would like to explore their function and the mechanism they are involved in in details to interpret my results and have nice visualisations. Any recommended tools and scripts in R?
Example of summaries I search for in a file or a annotation program:
Like this from NCBI for TNNT1: This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Or from Uniprot: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. ( TNNT1_HUMAN,P13805 )
Hope you can help me and thank you very much!
