[ensembl-dev] OMIM numbers for genes
Wolf Beat
Beat.Wolf at hefr.ch
Tue Oct 11 12:11:23 BST 2016
Hi,
i had an interesting issue with the OMIM number for a certain gene, HYDIN.
When querying biomart, i get two OMIM numbers back for this gene:
HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2; HYDIN2 610813
and
HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF; HYDIN 610812
The Problem, the first one is wrong. The first one is for the HYDIN2 gene, which is located on chromosome 1. HYDIN is on chromosome 16.
Looking at the OMIM pages linked this is confirmed:
HYDIN: http://omim.org/entry/610812
HYDIN2: http://omim.org/entry/610813
And here the ensembl pages:
HYDIN: http://grch37.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000157423;r=16:70807378-71230722
HYDIN2: http://grch37.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000239475;r=1:146310555-146349531
So my question is, is this an error on the part of ensembl (wrong annotation), some misunderstanding of my part and can i fix/detect this problem on my side?
Thank you very much.
Kind regards
Beat Wolf
More information about the Dev
mailing list