Mercurial > repos > xuebing > sharplabtool
diff tools/human_genome_variation/sift.xml @ 0:9071e359b9a3
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author | xuebing |
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date | Fri, 09 Mar 2012 19:37:19 -0500 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tools/human_genome_variation/sift.xml Fri Mar 09 19:37:19 2012 -0500 @@ -0,0 +1,174 @@ +<tool id="hgv_sift" name="SIFT" version="1.0.0"> + <description>predictions of functional sites</description> + + <command interpreter="bash"> + sift_variants_wrapper.sh "$input" "$output" "${input.metadata.dbkey}" "${GALAXY_DATA_INDEX_DIR}/sift_db.loc" "$chrom_col" "$pos_col" "$base" "$allele_col" "$strand_source.strand_col" "$comment_source.comment_col" "$output_opts" + </command> + + <inputs> + <param name="input" type="data" format="tabular" label="Dataset"> + <validator type="unspecified_build"/> + <validator type="dataset_metadata_in_file" filename="sift_db.loc" metadata_name="dbkey" metadata_column="0" message="Data is currently not available for the specified build."/> + </param> + <param name="chrom_col" type="data_column" data_ref="input" label="Column with chromosome"/> + <param name="pos_col" type="data_column" data_ref="input" numerical="true" label="Column with position"/> + <param name="base" type="select" label="Position coordinates are"> + <option value="1" selected="true">one-based</option> + <option value="0">zero-based</option> + </param> + <param name="allele_col" type="data_column" data_ref="input" label="Column with allele"/> + <conditional name="strand_source"> + <param name="strand_choice" type="select" label="Strand info"> + <option value="data_column" selected="true">a column in the dataset</option> + <option value="all_pos">all on sense/forward/+ strand</option> + <option value="all_neg">all on antisense/reverse/- strand</option> + </param> + <when value="data_column"> + <param name="strand_col" type="data_column" data_ref="input" label="Column with strand"/> + </when> + <when value="all_pos"> + <param name="strand_col" type="hidden" value="+"/> + </when> + <when value="all_neg"> + <param name="strand_col" type="hidden" value="-"/> + </when> + </conditional> + <conditional name="comment_source"> + <param name="comment_choice" type="select" label="Include comment column"> + <option value="no" selected="true">no</option> + <option value="yes">yes</option> + </param> + <when value="no"> + <param name="comment_col" type="hidden" value="-"/> + </when> + <when value="yes"> + <param name="comment_col" type="data_column" data_ref="input" label="Column with comment"/> + </when> + </conditional> + <param name="output_opts" type="select" multiple="true" display="checkboxes" label="Include the following additional fields in the output"> + <option value="A">Ensembl Gene ID</option> + <option value="B">Gene Name</option> + <option value="C">Gene Description</option> + <option value="D">Ensembl Protein Family ID</option> + <option value="E">Ensembl Protein Family Description</option> + <option value="F">Ensembl Transcript Status (Known / Novel)</option> + <option value="G">Protein Family Size</option> + <option value="H">Ka/Ks (Human-mouse)</option> + <option value="I">Ka/Ks (Human-macaque)</option> + <option value="J">OMIM Disease</option> + <option value="K">Allele Frequencies (All Hapmap Populations - weighted average)</option> + <option value="L">Allele Frequencies (CEU Hapmap population)</option> + </param> + </inputs> + + <outputs> + <data format="tabular" name="output" /> + </outputs> + + <requirements> + <requirement type="binary">awk</requirement> + <requirement type="binary">rm</requirement> + <requirement type="binary">sed</requirement> + </requirements> + + <tests> + <test> + <param name="input" value="sift_variants.tab" ftype="tabular" dbkey="hg18"/> + <param name="chrom_col" value="1"/> + <param name="pos_col" value="3"/> + <param name="base" value="1"/> + <param name="allele_col" value="5"/> + <param name="strand_choice" value="data_column"/> + <param name="strand_col" value="4"/> + <param name="output_opts" value="A"/> + <output name="output" file="sift_variants_result.tab"/> + </test> + </tests> + + <help> +.. class:: warningmark + +This currently works only for builds hg18 or hg19. + +----- + +**Dataset formats** + +The input and output datasets are tabular_. +(`Dataset missing?`_) + +.. _tabular: ./static/formatHelp.html#tab +.. _Dataset missing?: ./static/formatHelp.html + +----- + +**What it does** + +SIFT predicts whether an amino-acid substitution affects protein function, +based on sequence homology and the physical properties of amino acids. +SIFT can be applied to naturally occurring non-synonymous polymorphisms +and laboratory-induced missense mutations. This tool uses SQLite databases +containing pre-computed SIFT scores and annotations for all possible nucleotide +substitutions at each position in the human exome. Allele frequency data +are from the HapMap frequency database, and additional transcript and +gene-level data are from Ensembl BioMart. + +The input dataset must contain columns for the chromosome, position, and +alleles. The alleles must be two nucleotides separated by '/', +usually the reference allele and the allele of interest. +The strand must either be in another column or all the same. +The output contains a standard set of columns plus the additional ones that +have been selected from the list above. + +Website: http://sift.jcvi.org/ + +----- + +**Example** + +- input file:: + + chr3 81780820 + T/C + chr2 230341630 + G/A + chr2 43881517 + A/T + chr2 43857514 + T/C + chr6 88375602 + G/A + chr22 29307353 - T/A + chr10 115912482 - G/T + chr10 115900918 - C/T + chr16 69875502 + G/T + etc. + +- output file:: + + #Chrom Position Strand Allele Codons Transcript ID Protein ID Substitution Region dbSNP ID SNP Type Prediction Score Median Info Num seqs at position User Comment + chr3 81780820 + T/C AGA-gGA ENST00000264326 ENSP00000264326 R190G EXON CDS rs2229519:C Nonsynonymous DAMAGING 0.04 3.06 149 + chr2 230341630 + G/T - ENST00000389045 ENSP00000373697 NA EXON CDS rs1803846:A Unknown Not scored NA NA NA + chr2 43881517 + A/T ATA-tTA ENST00000260605 ENSP00000260605 I230L EXON CDS rs11556157:T Nonsynonymous TOLERATED 0.47 3.19 7 + chr2 43857514 + T/C TTT-TcT ENST00000260605 ENSP00000260605 F33S EXON CDS rs2288709:C Nonsynonymous TOLERATED 0.61 3.33 6 + chr6 88375602 + G/A GTT-aTT ENST00000257789 ENSP00000257789 V217I EXON CDS rs2307389:A Nonsynonymous TOLERATED 0.75 3.17 13 + chr22 29307353 + T/A ACC-tCC ENST00000335214 ENSP00000334612 T264S EXON CDS rs42942:A Nonsynonymous TOLERATED 0.4 3.14 23 + chr10 115912482 + C/A CGA-CtA ENST00000369285 ENSP00000358291 R179L EXON CDS rs12782946:T Nonsynonymous TOLERATED 0.06 4.32 2 + chr10 115900918 + G/A CAA-tAA ENST00000369287 ENSP00000358293 Q271* EXON CDS rs7095762:T Nonsynonymous N/A N/A N/A N/A + chr16 69875502 + G/T ACA-AaA ENST00000338099 ENSP00000337512 T608K EXON CDS rs3096381:T Nonsynonymous TOLERATED 0.12 3.41 3 + etc. + +----- + +**References** + +Ng PC, Henikoff S. (2001) Predicting deleterious amino acid substitutions. +Genome Res. 11(5):863-74. + +Ng PC, Henikoff S. (2002) Accounting for human polymorphisms predicted to affect protein function. +Genome Res. 12(3):436-46. + +Ng PC, Henikoff S. (2003) SIFT: Predicting amino acid changes that affect protein function. +Nucleic Acids Res. 31(13):3812-4. + +Kumar P, Henikoff S, Ng PC. (2009) Predicting the effects of coding non-synonymous variants +on protein function using the SIFT algorithm. +Nat Protoc. 4(7):1073-81. Epub 2009 Jun 25. + + </help> +</tool>