[ensembl-dev] why is NEFL ENSG00000104725 ENST00000221169 annotated as "No protein product"?

[Michael Yourshaw]

This issue came up when the variant effect predictor failed recognize a Charcot-Marie-Tooth disease variant in NEFL (neurofilament, light polypeptide) as as a coding variant.

Gene ENSG00000104725 transcript ENST00000221169 is annotated as "No protein product” by Ensembl. On Ensembl the prediction method is given as "Manual annotation (determined on a case-by-case basis) from the Havana project”.

The gene is annotated as protein coding by UniProt, RefSeq, and UCSC. CCDS apparently recognizes the mouse flavor of the gene but not the human.


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Michael Yourshaw
UCLA Geffen School of Medicine
Department of Human Genetics, Nelson Lab
695 Charles E Young Drive S
Gonda 5554
Los Angeles CA 90095-8348 USA
myourshaw at ucla.edu
970.691.8299

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