How do you handle multiple transcripts that produce different isoforms when assigning an amino acid position to a genomic position?
Hi,
I have chromosomal coordinates for a particular Positions in a gene.How I obtain the corresponding position in protein???
Thanks
2 answers
Have you seen ftp://ftp.uniprot.org/pub/databases/uniprot/current_release/knowledgebase/variants/ as announced for UniProt release 2013_12? http://www.uniprot.org/news/2013/12/11/release
This directory contains the following files:
humsavar.txt: Index of manually curated Human polymorphisms and disease mutations from UniProtKB/Swiss-Prot.
homo_sapiens_variation.txt.gz: Index of variants from the 1000 Genomes Project www.1000genome.org) that are not in UniProtKB/Swiss-Prot and that modify the protein sequence, including nonynonymous or missense variants and initiator codon variants. These variants are currently not available in the corresponding UniProtKB entries. There are 2 columns that might be interesting for you: "Cytogenetic Band" and "Chromosome Coordinate ".
Apologies, I hadn't noticed your question. The new file, homo_sapiens_variation.txt contains alternative isoforms, e.g. for gene A1CF
A1CF Q9NQ94-2 p.Ile73Val rs192585176 missense variant - - - 10q11.23 10:g.52603765T>C ENSG00000148584 ENST00000373997 ENSP00000363109
A1CF Q9NQ94-2 p.Lys114Asn rs181537708 missense variant - - - 10q11.23 10:g.52601645C>G ENSG00000148584 ENST00000373997 ENSP00000363109 ..
A1CF Q9NQ94-4 p.Ile81Val rs192585176 missense variant - - - 10q11.23 10:g.52603765T>C ENSG00000148584 ENST00000373995 ENSP00000363107
A1CF Q9NQ94-4 p.Lys122Asn rs181537708 missense variant - - - 10q11.23 10:g.52601645C>G ENSG00000148584 ENST00000373995 ENSP00000363107
A1CF Q9NQ94-4 p.Ser162Pro rs143123872 missense variant - - - 10q11.23 10:g.52595978A>G ENSG00000148584 ENST00000373995 ENSP00000363107 ...
A1CF Q9NQ94-6 p.Ile73Val rs192585176 missense variant - - - 10q11.23 10:g.52603765T>C ENSG00000148584 ENST00000395495 ENSP00000378873
A1CF Q9NQ94-6 p.Lys114Asn rs181537708 missense variant - - - 10q11.23 10:g.52601645C>G ENSG00000148584 ENST00000395495 ENSP00000378873Isoform sequences are mapped to Ensembl, just like canonical sequences are. Does this answer your question?
ANNOVAR is your friend. If it's human, you could also try the web server at http://wannovar.usc.edu/.
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