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updated transcript for ASXL2 #127

Merged
merged 2 commits into from
Aug 7, 2017
Merged

updated transcript for ASXL2 #127

merged 2 commits into from
Aug 7, 2017

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jjgao
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@jjgao jjgao commented Jul 20, 2017

Looks like the mapping from Ensembl is incorrect. The RefSeq sequence has 1435 amino acids instead of 1407.

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@ckandoth
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ckandoth commented Jul 23, 2017

Thanks @jjgao. NM_018263.4 has 1407aa while NM_018263.5 has 1435aa. Since DMP is using the older one, that's what we are sticking with in isoform_overrides_at_mskcc. Lemme know what led you to this, and we can find an alternative solution.
(Update 8/7/2017 - The info above on aa lengths is incorrect.)

@ckandoth ckandoth self-assigned this Jul 23, 2017
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ckandoth commented Aug 5, 2017

I'm gonna close this request. It exposed a larger problem that versioning of RefSeq isoforms needs to be implemented across the CMO, before we do another sync up.
(Update 8/7/2017 - This comment is also incorrect. See below for details on what really went wrong.)

@ckandoth ckandoth closed this Aug 5, 2017
@ckandoth ckandoth deleted the asxl2-transcript-fix branch August 5, 2017 04:09
@ckandoth ckandoth restored the asxl2-transcript-fix branch August 7, 2017 18:52
@ckandoth ckandoth reopened this Aug 7, 2017
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ckandoth commented Aug 7, 2017

Per my work notes matching ENST IDs to Refseq IDs used by MSKCC's clinical bioinformatics, an ENST ID for NM_018263.4 couldn't be automatically extracted via NCBI's CCDS. So I had manually looked it up in Ensembl's release 75 archives (the latest for GRCh37 loci, viewable at feb2014.archive.ensembl.org), where the xref_refseq mapping was incorrect, as JJ pointed out in the first comment. I went back and reviewed the 8 other genes for which I had manually looked up matching ENST isoforms, and found similar mistakes in 3 other genes. Updated those too. Will merge shortly.

@ckandoth ckandoth merged commit 8bb8032 into master Aug 7, 2017
@ckandoth ckandoth deleted the asxl2-transcript-fix branch August 7, 2017 19:20
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3 participants