📄 docsum.asn
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link-data SET OF NSE-rslink OPTIONAL, -- link data for external resources ss-list SET OF NSE-ss, -- set of all subsnp id's in the refSNP cluster contig-mapset SET OF NSE-rsContigHit OPTIONAL, -- list of hits to genome in NT_ contig coordinates and functional relationships -- between variations and genes as annotated on contig sequence -- data from SNPContigLoc & ContigInfo tables sequence-mapset SET OF NSE-rsSeqHit OPTIONAL, -- list of hits to genome in sequence component coordinates from MapLink and MapLinkArchive gene-info SET OF NSE-rsLocusID OPTIONAL, -- set of gene information inferred by blast similarity of variation and GenBank sequences. -- analysis is independent of annotation of genome sequence (contig-mapset, above) and -- includes variations mapped to mRNAs or genomic sequences that do not yet have a reference contig. sts-info SET OF INTEGER OPTIONAL, -- set of STS ids from SnpInSts unigene-info SET OF NSE-rsUnigene OPTIONAL, -- Unigene info from UnigeneSnp structure-data SET OF NSE-rsStruct OPTIONAL -- set of snp to protein structure data based on map coordinates -- and protein structure neighbors}NSE-rslink ::= SEQUENCE { -- link data for anther resource resource-id INTEGER, -- BaseURLList.url_id link-value VisibleString -- value to append to NSE-ResourceURL.base-url for complete link}NSE-ss ::= SEQUENCE { -- data for an individual submission to dbSNP. All submssions (subsnps, ss#) are -- grouped into reference SNP clusters (rs) above. -- ####################################################### -- ###### -- ###### Data defined in both NSE-rs.brief-sets and full-sets -- ###### -- ####################################################### handle VisibleString, -- Tag for the submitting laboratory batch-id INTEGER, -- dbSNP number for batch submission subsnp-id INTEGER, -- dbSNP accession number for submission (ss#) loc-snp-id VisibleString OPTIONAL, -- submitter (local) subsnp ID subsnp-class ENUMERATED { -- SubSNP classification by type of variation SubSNP.subsnp_class snp (1), -- true single nucleotide polymorphism in-del (2), -- insertion deletion polymorophism, deletions represented by '-' in allele string het (3), -- variation has unknown sequence composition, but is observed to be heterozygous microsat (4), -- microsatellite / simple sequence repeat named (5), -- allele sequences defined by name tag instead of raw sequence, e.g. (Alu)/- no-variation (6), -- submission reports invariant region in surveyed sequence mnp (8)}, -- multiple nucleotide polymorphism (all alleles same length where length>1) orient ENUMERATED { -- orientation of refsnp cluster members to refsnp cluster sequence forward (1), -- ss flanking sequence is in same orientation as seq-ss-exemplar (above) reversed (2) }, -- flanking sequence and alleles are reverse complement of refSNP as defined -- by seq-ss-exemplar. strand ENUMERATED { -- strand is defined as TOP/BOTTOM by nature of flanking nucleotide sequence itself top (1), -- bottom (2) } OPTIONAL, moltype ENUMERATED { -- moltype from Batch table genomic (1), cDNA (2), mito (3), chloro (4) }, build-id INTEGER, -- dbSNP build number when ss# was added to a refSNP (rs#) cluster method-class ENUMERATED { -- class of method used to assay for the variation dhplc (1), -- Denaturing High Pressure Liquid Chromatography used to detect SNP hybridize (2), -- a hybridization method (e.g. chip) was used to assay for variation computed (3), -- variation was mined from sequence alignment with software sscp (5), -- single stranded conformational polymorphism used to detect variation other (6), -- other method used to detect variation unknown (7), -- unknown method used to detect variation (not reported) rflp (8), -- variation in enzyme restriction site used to detect variation sequence (9)} OPTIONAL, -- samples were sequenced and resulting alignment used to define variation validated ENUMERATED { by-submitter (1), -- subsnp has been experimentally validated by submitter by-frequency (2), -- subsnp has frequency data submitted by-cluster (3), -- has 2+ submissions, with 1+ submission assayed with a non-computational method. no-info (4) -- subsnp is not validated } OPTIONAL, linkout-url VisibleString OPTIONAL, -- append loc-snp-id to this base URL to construct a pointer to submitter data. -- ####################################################### -- ###### -- ###### Additional data supplied in full-set -- ###### -- ####################################################### snp-link VisibleString OPTIONAL, -- submission includes reference to another ss# (snp-link value) in dbSNP accession SEQUENCE OF VisibleString OPTIONAL, -- GenBank or dbSTS sequence accessions used to define local sequence context comment SEQUENCE OF VisibleString OPTIONAL, -- submitter notes on discovery protocol or measure of evidence for the submission meth-failure SEQUENCE OF VisibleString OPTIONAL,-- notes if submitter reports failure to detect or confirm snp with specific methods genename VisibleString OPTIONAL, -- gene snp was associated with by submitter locus-id VisibleString OPTIONAL, -- NCBI LocusLink ID for gene flank-5 SEQUENCE OF VisibleString OPTIONAL, -- flanking sequence not surveyed, but appended for minimum length requirements assay-5 SEQUENCE OF VisibleString OPTIONAL, -- flanking sequence surveyedd in [NSE-Assay.samplesize] chromosomes observed VisibleString OPTIONAL, -- /-delimited string of alleles observed by submitter assay-3 SEQUENCE OF VisibleString OPTIONAL, -- flanking sequence surveyed in [NSE-Assay.samplesize] chromosomes flank-3 SEQUENCE OF VisibleString OPTIONAL, -- flanking sequence not surveyed, but appended for minimum length requirements -- n.b. the complete 5' flanking sequence for a submission is constructed as -- flank-5 strings in order + assay-5 strings in order -- the complete 3' flanking sequence is constructed as -- assay-3 strings in order + flank-3 strings in order pop-info SET OF NSE-ss-popinfo OPTIONAL }NSE-rsContigHit ::= SEQUENCE { -- data from SNPContigLoc, ContigInfo tables, & SNPContigLocusId tables contig-id VisibleString, -- Id of contig when naming files for refSNPs x contig locations SET OF NSE-rsMaploc, -- set of all valid locations for variation on contig accession VisibleString OPTIONAL, -- Accession number of the contig version INTEGER OPTIONAL, -- version number of the contig chromosome VisibleString OPTIONAL -- Chromosome number} NSE-rsMaploc ::= SEQUENCE { -- Position of a single hit of a variation on a contig asn-from INTEGER, -- beginning of variation as feature on contig SNPContigLoc.asn_from asn-to INTEGER, -- end of variation as feature on contig SNPContigLoc.asn_to loc-type ENUMERATED { -- defines the seq-loc symbol if asn_from != asn_to SNPContigLoc.loc_type range (1), -- asn-from < asn-to write as "asn-from..asn-to" exact (2), -- asn-from = asn-to write as "asn-from" between (3) }, -- asn-to = asn-from+1 write as "asn-from^asn-to" hit-quality ENUMERATED { high (1), -- if SNPContigLoc.proc_status = 0 (high quality hit) loose (2), -- if SNPContigLoc.proc_status = 1 (lower quality hit admits dirty flanks) dense (3) } OPTIONAL, -- if SNPContigLoc.proc_status = 8 (region of high SNP density like HLA) orient ENUMERATED { -- orientation of refSNP sequence to contig sequence forward (1), -- if SNPContigLoc.orientation = 0 reverse (2) } OPTIONAL, -- if SNPContigLoc.orientation = 1 physmap-str VisibleString OPTIONAL, -- chromosome position of var as seq-loc in # of bases SNPContigLoc.phys_pos physmap-int INTEGER OPTIONAL, -- chromosome position as integer for sorting SNPContigLoc.phys_pos_from fxn-set SET OF NSE-FxnSet OPTIONAL -- functional relationship of SNP (and possibly alleles) to genes at contig location -- fxn-set analysis is only available for NCBI contig-set}NSE-FxnSet ::= SEQUENCE { locusid INTEGER, -- locus-id of gene as aligned to contig SNPContigLocusId.locus_id symbol VisibleString OPTIONAL, -- symbol (official if present in LocusLink) of gene SNPContigLocusId.locus_symbol mrna-acc VisibleString OPTIONAL, -- mRNA accession if variation in transcript SNPContigLocusId.mrna_acc prot-acc VisibleString OPTIONAL, -- protein accession if variation in coding region interval SNPContigLocusId.protein_acc fxn-class-contig ENUMERATED { locus-region (1), -- variation in region of gene, but not in transcript SNPContigLocusId.fxn_class coding (2), -- variation in coding region of gene, assigned if allele-specific class unknown coding-synon (3), -- no change in peptide for allele with respect to contig seq **allele-specific class** coding-nonsynon (4), -- change in peptide with respect to contig sequence **allele-specific class** mrna-utr (5), -- variation in transcript, but not in coding region interval intron (6), -- variation in intron, but not in first 2 or last 2 bases of intron splice-site (7), -- variation in first 2 or last to bases of intron reference (8), -- allele observed in reference contig sequence **allele-specific class** exception (9) -- variation in coding region with exception raised on -- alignment. This occurs when protein with gap in sequence -- is aligned back to contig sequence. variations 3' of -- the gap have undefined functional inference. } , reading-frame INTEGER OPTIONAL, -- position of variation in reading frame of transcript SNPContigLocusId.reading_Frame allele VisibleString OPTIONAL, -- allele, * denotes allele observed in contig sequence SNPContigLocusId.allele residue VisibleString OPTIONAL, -- translated amino acid residue for allele SNPContigLocusId.residue aa-position INTEGER OPTIONAL -- position of the variant residue in peptide sequence SNPContigLocusId.aa_position}NSE-rsSeqHit ::= SEQUENCE { -- Properties of individual mapping result from finished & draft sequences accession VisibleString, -- Accession of the sequence version INTEGER OPTIONAL, -- version number of the sequence (reports most recent ver.) loc SET OF NSE-SeqLoc -- set of all valid locations on accession}NSE-SeqLoc ::= SEQUENCE { asn-from INTEGER, -- beginning position of variation on sequence asn-to INTEGER OPTIONAL, -- end position of variation on sequence loc-type ENUMERATED { range (1), -- asn-from < asn-to: write as "asn-from..asn-to" exact (2), -- asn-from = asn-to: write as "asn-from" between (3) -- asn-from = asn-to - 1: write as "asn-from^asn-to" } OPTIONAL, source-db ENUMERATED { ref-mrna (1), -- NCBI RefSeq mRNA gb-sts (2), -- GenBank STS division gb-mrna (4), -- Genbank mrna ref-genome(5), -- NCBI RefSeq genomic gb-small (6), -- Genbank genomic < 30kb in length hgs-finish (10), -- genome sequence, finished hgs-draft (11), -- genome sequence, draft bes (12) -- BAC-end sequence } OPTIONAL, orient ENUMERATED { forward (1), -- if MapLink.orientation = 0 reverse (2) } OPTIONAL -- if MapLink.orientation = 1}NSE-rsLocusID ::= SEQUENCE { locus-id INTEGER, url-id INTEGER DEFAULT 3, symbol VisibleString OPTIONAL, fxn-class-mrna ENUMERATED { -- these values are the same encoding as Fxn-Set.fxn-class (above) locus-region (1), coding (2), coding-synon (3), coding-nonsynon (4), mrna-UTR (5), intron (6), splice-site (7), reference (8), exception (9) } OPTIONAL}NSE-rsStruct ::= SEQUENCE { prot-acc VisibleString, -- accession of the protein with variation (SNP3D.protein_acc)
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