ExAC ABO data
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6.1 years ago
daehyuni1118 ▴ 10

I'm search for variants listed in ExAC, to find that only 'non coding transcripts' registed in ExAC browser. The gene I have interest in is ABO, the most variants listed annotated as "non coding transcript exon". (http://exac.broadinstitute.org/gene/ENSG00000175164) Do you have any experiences to deal with this problem? I have no idea why there are only non coding transcript for ABO, which is obviously a functional gene in human.

gene • 944 views
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6.1 years ago

The annotation pipeline used by ExAC uses hg19 as the reference genome. And in this reference ABO is processed but not translated.

Have a look at grch37.ensembl.org.

fin swimmer

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6.0 years ago
daehyuni1118 ▴ 10

Thank you for the kind explanation!

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