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--$Revision: 79603 $ --********************************************************************** -- -- NCBI Sequence Feature elements -- by James Ostell, 1990 -- Version 3.0 - June 1994 -- --********************************************************************** NCBI-Seqfeat DEFINITIONS ::= BEGIN EXPORTS Seq-feat, Feat-id, Genetic-code, ModelEvidenceSupport; IMPORTS Gene-ref FROM NCBI-Gene Prot-ref FROM NCBI-Protein Org-ref FROM NCBI-Organism Variation-ref FROM NCBI-Variation BioSource FROM NCBI-BioSource RNA-ref FROM NCBI-RNA Seq-id, Seq-loc, Giimport-id FROM NCBI-Seqloc Pubdesc, Numbering, Heterogen FROM NCBI-Sequence Rsite-ref FROM NCBI-Rsite Txinit FROM NCBI-TxInit DOI, PubMedId FROM NCBI-Biblio Pub-set FROM NCBI-Pub Object-id, Dbtag, User-object FROM NCBI-General; --*** Feature identifiers ******************************** --* Feat-id ::= CHOICE { gibb INTEGER , -- geninfo backbone giim Giimport-id , -- geninfo import local Object-id , -- for local software use general Dbtag } -- for use by various databases --*** Seq-feat ******************************************* --* sequence feature generalization Seq-feat ::= SEQUENCE { id Feat-id OPTIONAL , data SeqFeatData , -- the specific data partial BOOLEAN OPTIONAL , -- incomplete in some way? except BOOLEAN OPTIONAL , -- something funny about this? comment VisibleString OPTIONAL , product Seq-loc OPTIONAL , -- product of process location Seq-loc , -- feature made from qual SEQUENCE OF Gb-qual OPTIONAL , -- qualifiers title VisibleString OPTIONAL , -- for user defined label ext User-object OPTIONAL , -- user defined structure extension cit Pub-set OPTIONAL , -- citations for this feature exp-ev ENUMERATED { -- evidence for existence of feature experimental (1) , -- any reasonable experimental check not-experimental (2) } OPTIONAL , -- similarity, pattern, etc xref SET OF SeqFeatXref OPTIONAL , -- cite other relevant features dbxref SET OF Dbtag OPTIONAL , -- support for xref to other databases pseudo BOOLEAN OPTIONAL , -- annotated on pseudogene? except-text VisibleString OPTIONAL , -- explain if except=TRUE ids SET OF Feat-id OPTIONAL , -- set of Ids; will replace 'id' field exts SET OF User-object OPTIONAL , -- set of extensions; will replace 'ext' field support SeqFeatSupport OPTIONAL -- will replace /experiment, /inference, model-evidence } SeqFeatData ::= CHOICE { gene Gene-ref , org Org-ref , cdregion Cdregion , prot Prot-ref , rna RNA-ref , pub Pubdesc , -- publication applies to this seq seq Seq-loc , -- to annotate origin from another seq imp Imp-feat , region VisibleString, -- named region (globin locus) comment NULL , -- just a comment bond ENUMERATED { disulfide (1) , thiolester (2) , xlink (3) , thioether (4) , other (255) } , site ENUMERATED { active (1) , binding (2) , cleavage (3) , inhibit (4) , modified (5), glycosylation (6) , myristoylation (7) , mutagenized (8) , metal-binding (9) , phosphorylation (10) , acetylation (11) , amidation (12) , methylation (13) , hydroxylation (14) , sulfatation (15) , oxidative-deamination (16) , pyrrolidone-carboxylic-acid (17) , gamma-carboxyglutamic-acid (18) , blocked (19) , lipid-binding (20) , np-binding (21) , dna-binding (22) , signal-peptide (23) , transit-peptide (24) , transmembrane-region (25) , nitrosylation (26) , other (255) } , rsite Rsite-ref , -- restriction site (for maps really) user User-object , -- user defined structure txinit Txinit , -- transcription initiation num Numbering , -- a numbering system psec-str ENUMERATED { -- protein secondary structure helix (1) , -- any helix sheet (2) , -- beta sheet turn (3) } , -- beta or gamma turn non-std-residue VisibleString , -- non-standard residue here in seq het Heterogen , -- cofactor, prosthetic grp, etc, bound to seq biosrc BioSource, clone Clone-ref, variation Variation-ref } SeqFeatXref ::= SEQUENCE { -- both optional because can have one or both id Feat-id OPTIONAL , -- the feature copied data SeqFeatData OPTIONAL } -- the specific data SeqFeatSupport ::= SEQUENCE { experiment SET OF ExperimentSupport OPTIONAL , inference SET OF InferenceSupport OPTIONAL , model-evidence SET OF ModelEvidenceSupport OPTIONAL } EvidenceCategory ::= INTEGER { not-set (0) , coordinates (1) , description (2) , existence (3) } ExperimentSupport ::= SEQUENCE { category EvidenceCategory OPTIONAL , explanation VisibleString , pmids SET OF PubMedId OPTIONAL , dois SET OF DOI OPTIONAL } Program-id ::= SEQUENCE { name VisibleString , version VisibleString OPTIONAL } EvidenceBasis ::= SEQUENCE { programs SET OF Program-id OPTIONAL , accessions SET OF Seq-id OPTIONAL } InferenceSupport ::= SEQUENCE { category EvidenceCategory OPTIONAL , type INTEGER { not-set (0) , similar-to-sequence (1) , similar-to-aa (2) , similar-to-dna (3) , similar-to-rna (4) , similar-to-mrna (5) , similiar-to-est (6) , similar-to-other-rna (7) , profile (8) , nucleotide-motif (9) , protein-motif (10) , ab-initio-prediction (11) , alignment (12) , other (255) } DEFAULT not-set , other-type VisibleString OPTIONAL , same-species BOOLEAN DEFAULT FALSE , basis EvidenceBasis , pmids SET OF PubMedId OPTIONAL , dois SET OF DOI OPTIONAL } ModelEvidenceItem ::= SEQUENCE { id Seq-id , exon-count INTEGER OPTIONAL , exon-length INTEGER OPTIONAL , full-length BOOLEAN DEFAULT FALSE , supports-all-exon-combo BOOLEAN DEFAULT FALSE } ModelEvidenceSupport ::= SEQUENCE { method VisibleString OPTIONAL , mrna SET OF ModelEvidenceItem OPTIONAL , est SET OF ModelEvidenceItem OPTIONAL , protein SET OF ModelEvidenceItem OPTIONAL , identification Seq-id OPTIONAL , dbxref SET OF Dbtag OPTIONAL , exon-count INTEGER OPTIONAL , exon-length INTEGER OPTIONAL , full-length BOOLEAN DEFAULT FALSE , supports-all-exon-combo BOOLEAN DEFAULT FALSE } --*** CdRegion *********************************************** --* --* Instructions to translate from a nucleic acid to a peptide --* conflict means it's supposed to translate but doesn't --* Cdregion ::= SEQUENCE { orf BOOLEAN OPTIONAL , -- just an ORF ? frame ENUMERATED { not-set (0) , -- not set, code uses one one (1) , two (2) , three (3) } DEFAULT not-set , -- reading frame conflict BOOLEAN OPTIONAL , -- conflict gaps INTEGER OPTIONAL , -- number of gaps on conflict/except mismatch INTEGER OPTIONAL , -- number of mismatches on above code Genetic-code OPTIONAL , -- genetic code used code-break SEQUENCE OF Code-break OPTIONAL , -- individual exceptions stops INTEGER OPTIONAL } -- number of stop codons on above -- each code is 64 cells long, in the order where -- T=0,C=1,A=2,G=3, TTT=0, TTC=1, TCA=4, etc -- NOTE: this order does NOT correspond to a Seq-data -- encoding. It is "natural" to codon usage instead. -- the value in each cell is the AA coded for -- start= AA coded only if first in peptide -- in start array, if codon is not a legitimate start -- codon, that cell will have the "gap" symbol for -- that alphabet. Otherwise it will have the AA -- encoded when that codon is used at the start. Genetic-code ::= SET OF CHOICE { name VisibleString , -- name of a code id INTEGER , -- id in dbase ncbieaa VisibleString , -- indexed to IUPAC extended ncbi8aa OCTET STRING , -- indexed to NCBI8aa ncbistdaa OCTET STRING , -- indexed to NCBIstdaa sncbieaa VisibleString , -- start, indexed to IUPAC extended sncbi8aa OCTET STRING , -- start, indexed to NCBI8aa sncbistdaa OCTET STRING } -- start, indexed to NCBIstdaa Code-break ::= SEQUENCE { -- specific codon exceptions loc Seq-loc , -- location of exception aa CHOICE { -- the amino acid ncbieaa INTEGER , -- ASCII value of NCBIeaa code ncbi8aa INTEGER , -- NCBI8aa code ncbistdaa INTEGER } } -- NCBIstdaa code Genetic-code-table ::= SET OF Genetic-code -- table of genetic codes --*** Import *********************************************** --* --* Features imported from other databases --* Imp-feat ::= SEQUENCE { key VisibleString , loc VisibleString OPTIONAL , -- original location string descr VisibleString OPTIONAL } -- text description Gb-qual ::= SEQUENCE { qual VisibleString , val VisibleString } --*** Clone-ref *********************************************** --* --* Specification of clone features --* Clone-ref ::= SEQUENCE { name VisibleString, -- Official clone symbol library VisibleString OPTIONAL, -- Library name concordant BOOLEAN DEFAULT FALSE, -- OPTIONAL? unique BOOLEAN DEFAULT FALSE, -- OPTIONAL? placement-method INTEGER { end-seq (0), -- Clone placed by end sequence insert-alignment (1), -- Clone placed by insert alignment sts (2), -- Clone placed by STS fish (3), fingerprint (4), end-seq-insert-alignment (5), -- combined end-seq and insert align external (253), -- Placement provided externally curated (254), -- Human placed or approved other (255) } OPTIONAL, clone-seq Clone-seq-set OPTIONAL } Clone-seq-set ::= SET OF Clone-seq Clone-seq ::= SEQUENCE { type INTEGER { insert (0), end (1), other (255) }, confidence INTEGER { multiple (0), -- Multiple hits na (1), -- Unspecified nohit-rep (2), -- No hits, end flagged repetitive nohitnorep (3), -- No hits, end not flagged repetitive other-chrm (4), -- Hit on different chromosome unique (5), virtual (6), -- Virtual (hasn't been sequenced) multiple-rep (7), -- Multiple hits, end flagged repetitive multiplenorep (8), -- Multiple hits, end not flagged repetitive no-hit (9), -- No hits other (255) } OPTIONAL, location Seq-loc, -- location on sequence seq Seq-loc OPTIONAL, -- clone sequence location align-id Dbtag OPTIONAL, -- internal alignment identifier support INTEGER { prototype (0), -- sequence used to place clone supporting (1), -- sequence supports placement supports-other(2), -- supports a different placement non-supporting (3) -- does not support any placement } OPTIONAL } END --*** Variation-ref *********************************************** --* --* Specification of variation features --* NCBI-Variation DEFINITIONS ::= BEGIN EXPORTS Variation-ref, Variation-inst, VariantProperties, Population-data, Phenotype; IMPORTS Int-fuzz, User-object, Object-id, Dbtag FROM NCBI-General Seq-literal FROM NCBI-Sequence SubSource FROM NCBI-BioSource Seq-loc FROM NCBI-Seqloc Pub FROM NCBI-Pub; -- -------------------------------------------------------------------------- -- Historically, the dbSNP definitions document data structures used in the -- processing and annotation of variations by the dbSNP group. The intention -- is to provide information to clients that reflect internal information -- produced during the mapping of SNPs -- -------------------------------------------------------------------------- VariantProperties ::= SEQUENCE { version INTEGER, -- NOTE: -- The format for most of these values is as an integer -- Unless otherwise noted, these integers represent a bitwise OR (= simple -- sum) of the possible values, and as such, these values represent the -- specific bit flags that may be set for each of the possible attributes -- here. resource-link INTEGER { preserved (1), -- Clinical, Pubmed, Cited, (0x01) provisional (2), -- Provisional Third Party Annotations (0x02) has3D (4), -- Has 3D strcture SNP3D table (0x04) submitterLinkout (8), -- SNP->SubSNP->Batch link_out (0x08) clinical (16), -- Clinical if LSDB, OMIM, TPA, Diagnostic (0x10) genotypeKit (32) -- Marker exists on high density genotyping kit -- (0x20) } OPTIONAL, gene-location INTEGER { in-gene (1), -- Sequence intervals covered by a gene ID but not -- having an aligned transcript (0x01) near-gene-5 (2), -- Within 2kb of the 5' end of a gene feature near-gene-3 (4), -- Within 0.5kb of the 3' end of a gene feature intron (8), -- In Intron (0x08) donor (16), -- In donor splice-site (0x10) acceptor (32), -- In acceptor splice-site (0x20) utr-5 (64), -- In 5' UTR (0x40) utr-3 (128), -- In 3' UTR (0x80) in-start-codon(256), -- the variant is observed in a start codon -- (0x100) in-stop-codon (512), -- the variant is observed in a stop codon -- (0x200) intergenic (1024), -- variant located between genes (0x400) conserved-noncoding(2048) -- variant is located in a conserved -- non-coding region (0x800) } OPTIONAL, effect INTEGER { no-change (0), -- known to cause no functional changes -- since 0 does not combine with any other bit -- value, 'no-change' specifically implies that -- there are no consequences synonymous (1), -- one allele in the set does not change the encoded -- amino acid (0x1) nonsense (2), -- one allele in the set changes to STOP codon -- (TER). (0x2) missense (4), -- one allele in the set changes protein peptide -- (0x4) frameshift (8), -- one allele in the set changes all downstream -- amino acids (0x8) up-regulator (16), -- the variant causes increased transcription -- (0x10) down-regulator(32), -- the variant causes decreased transcription -- (0x20) methylation (64), stop-gain (128), -- reference codon is not stop codon, but the snp -- variant allele changes the codon to a -- terminating codon. stop-loss (256) -- reverse of STOP-GAIN: reference codon is a -- stop codon, but a snp variant allele changes -- the codon to a non-terminating codon. } OPTIONAL, mapping INTEGER { has-other-snp (1), -- Another SNP has the same mapped positions -- on reference assembly (0x01) has-assembly-conflict (2), -- Weight 1 or 2 SNPs that map to different -- chromosomes on different assemblies (0x02) is-assembly-specific (4) -- Only maps to 1 assembly (0x04) } OPTIONAL, -- map-weight captures specificity of placement -- NOTE: This is *NOT* a bitfield map-weight INTEGER { is-uniquely-placed(1), placed-twice-on-same-chrom(2), placed-twice-on-diff-chrom(3), many-placements(10) } OPTIONAL, frequency-based-validation INTEGER { is-mutation (1), -- low frequency variation that is cited in -- journal or other reputable sources (0x01) above-5pct-all (2), -- >5% minor allele freq in each and all -- populations (0x02) above-5pct-1plus (4), -- >5% minor allele freq in 1+ populations (0x04) validated (8), -- Bit is set if the variant has a minor allele -- observed in two or more separate chromosomes above-1pct-all (16), -- >1% minor allele freq in each and all -- populations (0x10) above-1pct-1plus (32) -- >1% minor allele freq in 1+ populations (0x20) } OPTIONAL, genotype INTEGER { in-haplotype-set (1), -- Exists in a haplotype tagging set (0x01) has-genotypes (2) -- SNP has individual genotype (0x02) } OPTIONAL, -- project IDs are IDs from BioProjects -- in order to report information about project relationships, we -- require projects to be registered -- This field in many ways duplicates dbxrefs; however, the -- intention of this field is to more adequately reflect -- ownership and data source -- -- 11/9/2010: DO NOT USE -- This field was changed in the spec in a breaking way; using it will -- break clients. We are officially suppressing / abandoning this field. -- Clients who need to use this should instead place the data in -- Seq-feat.dbxref, using the db name 'BioProject' project-data SET OF INTEGER OPTIONAL, quality-check INTEGER { contig-allele-missing (1), -- Reference sequence allele at the mapped -- position is not present in the SNP -- allele list, adjusted for orientation -- (0x01) withdrawn-by-submitter (2), -- One member SS is withdrawn by submitter -- (0x02) non-overlapping-alleles (4), -- RS set has 2+ alleles from different -- submissions and these sets share no -- alleles in common (0x04) strain-specific (8), -- Straing specific fixed difference (0x08) genotype-conflict (16) -- Has Genotype Conflict (0x10) } OPTIONAL, confidence INTEGER { unknown (0), likely-artifact (1), other (255) } OPTIONAL, -- has this variant been validated? -- While a boolean flag offers no subtle distinctions of validation -- methods, occasionally it is only known as a single boolean value -- NOTE: this flag is redundant and should be omitted if more comprehensive -- validation information is present other-validation BOOLEAN OPTIONAL, -- origin of this allele, if known -- note that these are powers-of-two, and represent bits; thus, we can -- represent more than one state simultaneously through a bitwise OR allele-origin INTEGER { unknown (0), germline (1), somatic (2), inherited (4), paternal (8), maternal (16), de-novo (32), biparental (64), uniparental (128), not-tested (256), tested-inconclusive (512), not-reported (1024), -- stopper - 2^31 other (1073741824) } OPTIONAL, -- observed allele state, if known -- NOTE: THIS IS NOT A BITFIELD! allele-state INTEGER { unknown (0), homozygous (1), heterozygous (2), hemizygous (3), nullizygous (4), other (255) } OPTIONAL, -- NOTE: -- 'allele-frequency' here refers to the minor allele frequency of the -- default population allele-frequency REAL OPTIONAL, -- is this variant the ancestral allele? is-ancestral-allele BOOLEAN OPTIONAL } Phenotype ::= SEQUENCE { source VisibleString OPTIONAL, term VisibleString OPTIONAL, xref SET OF Dbtag OPTIONAL, -- does this variant have known clinical significance? clinical-significance INTEGER { unknown (0), untested (1), non-pathogenic (2), probable-non-pathogenic (3), probable-pathogenic (4), pathogenic (5), drug-response (6), histocompatibility (7), other (255) } OPTIONAL } Population-data ::= SEQUENCE { -- assayed population (e.g. HAPMAP-CEU) population VisibleString, genotype-frequency REAL OPTIONAL, chromosomes-tested INTEGER OPTIONAL, sample-ids SET OF Object-id OPTIONAL, allele-frequency REAL OPTIONAL, -- This field is an explicit bit-field -- Valid values should be a bitwise combination (= simple sum) -- of any of the values below flags INTEGER { is-default-population (1), is-minor-allele (2), is-rare-allele (4) } OPTIONAL } Ext-loc ::= SEQUENCE { id Object-id, location Seq-loc } Variation-ref ::= SEQUENCE { -- ids (i.e., SNP rsid / ssid, dbVar nsv/nssv) -- expected values include 'dbSNP|rs12334', 'dbSNP|ss12345', 'dbVar|nsv1' -- -- we relate three kinds of IDs here: -- - our current object's id -- - the id of this object's parent, if it exists -- - the sample ID that this item originates from id Dbtag OPTIONAL, parent-id Dbtag OPTIONAL, sample-id Object-id OPTIONAL, other-ids SET OF Dbtag OPTIONAL, -- names and synonyms -- some variants have well-known canonical names and possible accepted -- synonyms name VisibleString OPTIONAL, synonyms SET OF VisibleString OPTIONAL, -- tag for comment and descriptions description VisibleString OPTIONAL, -- phenotype phenotype SET OF Phenotype OPTIONAL, -- sequencing / acuisition method method SET OF INTEGER { unknown (0), bac-acgh (1), computational (2), curated (3), digital-array (4), expression-array (5), fish (6), flanking-sequence (7), maph (8), mcd-analysis (9), mlpa (10), oea-assembly (11), oligo-acgh (12), paired-end (13), pcr (14), qpcr (15), read-depth (16), roma (17), rt-pcr (18), sage (19), sequence-alignment (20), sequencing (21), snp-array (22), snp-genoytyping (23), southern (24), western (25), optical-mapping (26), other (255) } OPTIONAL, -- Note about SNP representation and pretinent fields: allele-frequency, -- population, quality-codes: -- The case of multiple alleles for a SNP would be described by -- parent-feature of type Variation-set.diff-alleles, where the child -- features of type Variation-inst, all at the same location, would -- describe individual alleles. -- population data -- DEPRECATED - do not use population-data SET OF Population-data OPTIONAL, -- variant properties bit fields variant-prop VariantProperties OPTIONAL, -- has this variant been validated? -- DEPRECATED: new field = VariantProperties.other-validation validated BOOLEAN OPTIONAL, -- link-outs to GeneTests database -- DEPRECATED - do not use clinical-test SET OF Dbtag OPTIONAL, -- origin of this allele, if known -- note that these are powers-of-two, and represent bits; thus, we can -- represent more than one state simultaneously through a bitwise OR -- DEPRECATED: new field = VariantProperties.allele-origin allele-origin INTEGER { unknown (0), germline (1), somatic (2), inherited (4), paternal (8), maternal (16), de-novo (32), biparental (64), uniparental (128), not-tested (256), tested-inconclusive (512), -- stopper - 2^31 other (1073741824) } OPTIONAL, -- observed allele state, if known -- DEPRECATED: new field = VariantProperties.allele-state allele-state INTEGER { unknown (0), homozygous (1), heterozygous (2), hemizygous (3), nullizygous (4), other (255) } OPTIONAL, -- NOTE: -- 'allele-frequency' here refers to the minor allele frequency of the -- default population -- DEPRECATED: new field = VariantProperties.allele-frequency allele-frequency REAL OPTIONAL, -- is this variant the ancestral allele? -- DEPRECATED: new field = VariantProperties.is-ancestral-allele is-ancestral-allele BOOLEAN OPTIONAL, -- publication support. -- Note: made this pub instead of pub-equiv, since -- Pub can be pub-equiv and pub-equiv is a set of pubs, but it looks like -- Pub is more often used as top-level container -- DEPRECATED - do not use; use Seq-feat.dbxref instead pub Pub OPTIONAL, data CHOICE { unknown NULL, note VisibleString, --free-form uniparental-disomy NULL, -- actual sequence-edit at feat.location instance Variation-inst, -- Set of related Variations. -- Location of the set equals to the union of member locations set SEQUENCE { type INTEGER { unknown (0), compound (1), -- complex change at the same location on the -- same molecule products (2), -- different products arising from the same -- variation in a precursor, e.g. r.[13g>a, -- 13_88del] haplotype (3), -- changes on the same allele, e.g -- r.[13g>a;15u>c] genotype (4), -- changes on different alleles in the same -- genotype, e.g. g.[476C>T]+[476C>T] mosaic (5), -- different genotypes in the same individual individual (6), -- same organism; allele relationship unknown, -- e.g. g.[476C>T(+)183G>C] population (7), -- population alleles (8), -- set represents a set of observed alleles package (9), -- set represents a package of observations at -- a given location, generally containing -- asserted + reference other (255) }, variations SET OF Variation-ref, name VisibleString OPTIONAL }, -- variant is a complex and undescribed change at the location -- This type of variant is known to occur in dbVar submissions complex NULL }, consequence SET OF CHOICE { unknown NULL, splicing NULL, --some effect on splicing note VisibleString, --freeform -- Describe resulting variation in the product, e.g. missense, -- nonsense, silent, neutral, etc in a protein, that arises from -- THIS variation. variation Variation-ref, -- see http://www.hgvs.org/mutnomen/recs-prot.html frameshift SEQUENCE { phase INTEGER OPTIONAL, x-length INTEGER OPTIONAL }, loss-of-heterozygosity SEQUENCE { -- In germline comparison, it will be reference genome assembly -- (default) or reference/normal population. In somatic mutation, -- it will be a name of the normal tissue. reference VisibleString OPTIONAL, -- Name of the testing subject type or the testing tissue. test VisibleString OPTIONAL } } OPTIONAL, -- Observed location, if different from the parent set or feature.location. -- DEPRECATED - do not use location Seq-loc OPTIONAL, -- reference other locs, e.g. mapped source -- DEPRECATED - do not use ext-locs SET OF Ext-loc OPTIONAL, -- DEPRECATED - do not use; use Seq-feat.exts instead ext User-object OPTIONAL, somatic-origin SET OF SEQUENCE { -- description of the somatic origin itself source SubSource OPTIONAL, -- condition related to this origin's type condition SEQUENCE { description VisibleString OPTIONAL, -- reference to BioTerm / other descriptive database object-id SET OF Dbtag OPTIONAL } OPTIONAL } OPTIONAL } Delta-item ::= SEQUENCE { seq CHOICE { literal Seq-literal, loc Seq-loc, this NULL --same location as variation-ref itself } OPTIONAL, -- Multiplier allows representing a tandem, e.g. ATATAT as AT*3 -- This allows describing CNV/SSR where delta=self with a -- multiplier which specifies the count of the repeat unit. multiplier INTEGER OPTIONAL, --assumed 1 if not specified. multiplier-fuzz Int-fuzz OPTIONAL, action INTEGER { -- replace len(seq) positions starting with location.start with seq morph (0), -- go downstream by distance specified by multiplier (upstream if < 0), -- in genomic context. offset (1), -- excise sequence at location -- if multiplier is specified, delete len(location)*multiplier -- positions downstream del-at (2), -- insert seq before the location.start ins-before (3) } DEFAULT morph } -- Variation instance Variation-inst ::= SEQUENCE { type INTEGER { unknown (0), -- delta=[] identity (1), -- delta=[] inv (2), -- delta=[del, ins.seq= -- RevComp(variation-location)] snv (3), -- delta=[morph of length 1] -- NOTE: this is snV not snP; the latter -- requires frequency-based validation to be -- established in VariantProperties -- the strict definition of SNP is an SNV with -- an established population frequency of at -- least 1% in at least 1 popuplation mnp (4), -- delta=[morph of length >1] delins (5), -- delta=[del, ins] del (6), -- delta=[del] ins (7), -- delta=[ins] microsatellite (8), -- delta=[del, ins.seq= repeat-unit with fuzzy -- multiplier] -- variation-location is the microsat expansion -- on the sequence transposon (9), -- delta=[del, ins.seq= known donor or 'this'] -- variation-location is equiv of transposon -- locs. cnv (10), -- delta=[del, ins= 'this' with fuzzy -- multiplier] direct-copy (11), -- delta=[ins.seq= upstream location on the -- same strand] rev-direct-copy (12), -- delta=[ins.seq= downstream location on the -- same strand] inverted-copy (13), -- delta=[ins.seq= upstream location on the -- opposite strand] everted-copy (14), -- delta=[ins.seq= downstream location on the -- opposite strand] translocation (15), -- delta=like delins prot-missense (16), -- delta=[morph of length 1] prot-nonsense (17), -- delta=[del]; variation-location is the tail -- of the protein being truncated prot-neutral (18), -- delta=[morph of length 1] prot-silent (19), -- delta=[morph of length 1, same AA as at -- variation-location] prot-other (20), -- delta=any other (255) -- delta=any }, -- Sequence that replaces the location, in biological order. delta SEQUENCE OF Delta-item, -- 'observation' is used to label items in a Variation-ref package -- This field is explicitly a bit-field, so the bitwise OR (= sum) of any -- of the values may be observed. observation INTEGER { asserted (1), -- inst represents the asserted base at a -- position reference (2), -- inst represents the reference base at the -- position variant (4) -- inst represent the observed variant at a -- given position } OPTIONAL } END --********************************************************************** -- -- NCBI Restriction Sites -- by James Ostell, 1990 -- version 0.8 -- --********************************************************************** NCBI-Rsite DEFINITIONS ::= BEGIN EXPORTS Rsite-ref; IMPORTS Dbtag FROM NCBI-General; Rsite-ref ::= CHOICE { str VisibleString , -- may be unparsable db Dbtag } -- pointer to a restriction site database END --********************************************************************** -- -- NCBI RNAs -- by James Ostell, 1990 -- version 0.8 -- --********************************************************************** NCBI-RNA DEFINITIONS ::= BEGIN EXPORTS RNA-ref, Trna-ext, RNA-gen, RNA-qual, RNA-qual-set; IMPORTS Seq-loc FROM NCBI-Seqloc; --*** rnas *********************************************** --* --* various rnas --* -- minimal RNA sequence RNA-ref ::= SEQUENCE { type ENUMERATED { -- type of RNA feature unknown (0) , premsg (1) , mRNA (2) , tRNA (3) , rRNA (4) , snRNA (5) , -- will become ncRNA, with RNA-gen.class = snRNA scRNA (6) , -- will become ncRNA, with RNA-gen.class = scRNA snoRNA (7) , -- will become ncRNA, with RNA-gen.class = snoRNA ncRNA (8) , -- non-coding RNA; subsumes snRNA, scRNA, snoRNA tmRNA (9) , miscRNA (10) , other (255) } , pseudo BOOLEAN OPTIONAL , ext CHOICE { name VisibleString , -- for naming "other" type tRNA Trna-ext , -- for tRNAs gen RNA-gen } OPTIONAL -- generic fields for ncRNA, tmRNA, miscRNA } Trna-ext ::= SEQUENCE { -- tRNA feature extensions aa CHOICE { -- aa this carries iupacaa INTEGER , ncbieaa INTEGER , ncbi8aa INTEGER , ncbistdaa INTEGER } OPTIONAL , codon SET OF INTEGER OPTIONAL , -- codon(s) as in Genetic-code anticodon Seq-loc OPTIONAL } -- location of anticodon RNA-gen ::= SEQUENCE { class VisibleString OPTIONAL , -- for ncRNAs, the class of non-coding RNA: -- examples: antisense_RNA, guide_RNA, snRNA product VisibleString OPTIONAL , quals RNA-qual-set OPTIONAL -- e.g., tag_peptide qualifier for tmRNAs } RNA-qual ::= SEQUENCE { -- Additional data values for RNA-gen, qual VisibleString , -- in a tag (qual), value (val) format val VisibleString } RNA-qual-set ::= SEQUENCE OF RNA-qual END --********************************************************************** -- -- NCBI Genes -- by James Ostell, 1990 -- version 0.8 -- --********************************************************************** NCBI-Gene DEFINITIONS ::= BEGIN EXPORTS Gene-ref, Gene-nomenclature; IMPORTS Dbtag FROM NCBI-General; --*** Gene *********************************************** --* --* reference to a gene --* Gene-ref ::= SEQUENCE { locus VisibleString OPTIONAL , -- Official gene symbol allele VisibleString OPTIONAL , -- Official allele designation desc VisibleString OPTIONAL , -- descriptive name maploc VisibleString OPTIONAL , -- descriptive map location pseudo BOOLEAN DEFAULT FALSE , -- pseudogene db SET OF Dbtag OPTIONAL , -- ids in other dbases syn SET OF VisibleString OPTIONAL , -- synonyms for locus locus-tag VisibleString OPTIONAL , -- systematic gene name (e.g., MI0001, ORF0069) formal-name Gene-nomenclature OPTIONAL } Gene-nomenclature ::= SEQUENCE { status ENUMERATED { unknown (0) , official (1) , interim (2) } , symbol VisibleString OPTIONAL , name VisibleString OPTIONAL , source Dbtag OPTIONAL } END --********************************************************************** -- -- NCBI Organism -- by James Ostell, 1994 -- version 3.0 -- --********************************************************************** NCBI-Organism DEFINITIONS ::= BEGIN EXPORTS Org-ref; IMPORTS Dbtag FROM NCBI-General; --*** Org-ref *********************************************** --* --* Reference to an organism --* defines only the organism.. lower levels of detail for biological --* molecules are provided by the Source object --* Org-ref ::= SEQUENCE { taxname VisibleString OPTIONAL , -- preferred formal name common VisibleString OPTIONAL , -- common name mod SET OF VisibleString OPTIONAL , -- unstructured modifiers db SET OF Dbtag OPTIONAL , -- ids in taxonomic or culture dbases syn SET OF VisibleString OPTIONAL , -- synonyms for taxname or common orgname OrgName OPTIONAL } OrgName ::= SEQUENCE { name CHOICE { binomial BinomialOrgName , -- genus/species type name virus VisibleString , -- virus names are different hybrid MultiOrgName , -- hybrid between organisms namedhybrid BinomialOrgName , -- some hybrids have genus x species name partial PartialOrgName } OPTIONAL , -- when genus not known attrib VisibleString OPTIONAL , -- attribution of name mod SEQUENCE OF OrgMod OPTIONAL , lineage VisibleString OPTIONAL , -- lineage with semicolon separators gcode INTEGER OPTIONAL , -- genetic code (see CdRegion) mgcode INTEGER OPTIONAL , -- mitochondrial genetic code div VisibleString OPTIONAL , -- GenBank division code pgcode INTEGER OPTIONAL } -- plastid genetic code OrgMod ::= SEQUENCE { subtype INTEGER { strain (2) , substrain (3) , type (4) , subtype (5) , variety (6) , serotype (7) , serogroup (8) , serovar (9) , cultivar (10) , pathovar (11) , chemovar (12) , biovar (13) , biotype (14) , group (15) , subgroup (16) , isolate (17) , common (18) , acronym (19) , dosage (20) , -- chromosome dosage of hybrid nat-host (21) , -- natural host of this specimen sub-species (22) , specimen-voucher (23) , authority (24) , forma (25) , forma-specialis (26) , ecotype (27) , synonym (28) , anamorph (29) , teleomorph (30) , breed (31) , gb-acronym (32) , -- used by taxonomy database gb-anamorph (33) , -- used by taxonomy database gb-synonym (34) , -- used by taxonomy database culture-collection (35) , bio-material (36) , metagenome-source (37) , type-material (38) , nomenclature (39) , -- code of nomenclature in subname (B,P,V,Z or combination) old-lineage (253) , old-name (254) , other (255) } , -- ASN5: old-name (254) will be added to next spec subname VisibleString , attrib VisibleString OPTIONAL } -- attribution/source of name BinomialOrgName ::= SEQUENCE { genus VisibleString , -- required species VisibleString OPTIONAL , -- species required if subspecies used subspecies VisibleString OPTIONAL } MultiOrgName ::= SEQUENCE OF OrgName -- the first will be used to assign division PartialOrgName ::= SEQUENCE OF TaxElement -- when we don't know the genus TaxElement ::= SEQUENCE { fixed-level INTEGER { other (0) , -- level must be set in string family (1) , order (2) , class (3) } , level VisibleString OPTIONAL , name VisibleString } END --********************************************************************** -- -- NCBI BioSource -- by James Ostell, 1994 -- version 3.0 -- --********************************************************************** NCBI-BioSource DEFINITIONS ::= BEGIN EXPORTS BioSource, SubSource; IMPORTS Org-ref FROM NCBI-Organism; --******************************************************************** -- -- BioSource gives the source of the biological material -- for sequences -- --******************************************************************** BioSource ::= SEQUENCE { genome INTEGER { -- biological context unknown (0) , genomic (1) , chloroplast (2) , chromoplast (3) , kinetoplast (4) , mitochondrion (5) , plastid (6) , macronuclear (7) , extrachrom (8) , plasmid (9) , transposon (10) , insertion-seq (11) , cyanelle (12) , proviral (13) , virion (14) , nucleomorph (15) , apicoplast (16) , leucoplast (17) , proplastid (18) , endogenous-virus (19) , hydrogenosome (20) , chromosome (21) , chromatophore (22) , plasmid-in-mitochondrion (23) , plasmid-in-plastid (24) } DEFAULT unknown , origin INTEGER { unknown (0) , natural (1) , -- normal biological entity natmut (2) , -- naturally occurring mutant mut (3) , -- artificially mutagenized artificial (4) , -- artificially engineered synthetic (5) , -- purely synthetic other (255) } DEFAULT unknown , org Org-ref , subtype SEQUENCE OF SubSource OPTIONAL , is-focus NULL OPTIONAL , -- to distinguish biological focus pcr-primers PCRReactionSet OPTIONAL } PCRReactionSet ::= SET OF PCRReaction PCRReaction ::= SEQUENCE { forward PCRPrimerSet OPTIONAL , reverse PCRPrimerSet OPTIONAL } PCRPrimerSet ::= SET OF PCRPrimer PCRPrimer ::= SEQUENCE { seq PCRPrimerSeq OPTIONAL , name PCRPrimerName OPTIONAL } PCRPrimerSeq ::= VisibleString PCRPrimerName ::= VisibleString SubSource ::= SEQUENCE { subtype INTEGER { chromosome (1) , map (2) , clone (3) , subclone (4) , haplotype (5) , genotype (6) , sex (7) , cell-line (8) , cell-type (9) , tissue-type (10) , clone-lib (11) , dev-stage (12) , frequency (13) , germline (14) , rearranged (15) , lab-host (16) , pop-variant (17) , tissue-lib (18) , plasmid-name (19) , transposon-name (20) , insertion-seq-name (21) , plastid-name (22) , country (23) , segment (24) , endogenous-virus-name (25) , transgenic (26) , environmental-sample (27) , isolation-source (28) , lat-lon (29) , -- +/- decimal degrees collection-date (30) , -- DD-MMM-YYYY format collected-by (31) , -- name of person who collected the sample identified-by (32) , -- name of person who identified the sample fwd-primer-seq (33) , -- sequence (possibly more than one; semicolon-separated) rev-primer-seq (34) , -- sequence (possibly more than one; semicolon-separated) fwd-primer-name (35) , rev-primer-name (36) , metagenomic (37) , mating-type (38) , linkage-group (39) , haplogroup (40) , whole-replicon (41) , phenotype (42) , altitude (43) , other (255) } , name VisibleString , attrib VisibleString OPTIONAL } -- attribution/source of this name END --********************************************************************** -- -- NCBI Protein -- by James Ostell, 1990 -- version 0.8 -- --********************************************************************** NCBI-Protein DEFINITIONS ::= BEGIN EXPORTS Prot-ref; IMPORTS Dbtag FROM NCBI-General; --*** Prot-ref *********************************************** --* --* Reference to a protein name --* Prot-ref ::= SEQUENCE { name SET OF VisibleString OPTIONAL , -- protein name desc VisibleString OPTIONAL , -- description (instead of name) ec SET OF VisibleString OPTIONAL , -- E.C. number(s) activity SET OF VisibleString OPTIONAL , -- activities db SET OF Dbtag OPTIONAL , -- ids in other dbases processed ENUMERATED { -- processing status not-set (0) , preprotein (1) , mature (2) , signal-peptide (3) , transit-peptide (4) , propeptide (5) } DEFAULT not-set } END --******************************************************************** -- -- Transcription Initiation Site Feature Data Block -- James Ostell, 1991 -- Philip Bucher, David Ghosh -- version 1.1 -- -- -- --******************************************************************** NCBI-TxInit DEFINITIONS ::= BEGIN EXPORTS Txinit; IMPORTS Gene-ref FROM NCBI-Gene Prot-ref FROM NCBI-Protein Org-ref FROM NCBI-Organism; Txinit ::= SEQUENCE { name VisibleString , -- descriptive name of initiation site syn SEQUENCE OF VisibleString OPTIONAL , -- synonyms gene SEQUENCE OF Gene-ref OPTIONAL , -- gene(s) transcribed protein SEQUENCE OF Prot-ref OPTIONAL , -- protein(s) produced rna SEQUENCE OF VisibleString OPTIONAL , -- rna(s) produced expression VisibleString OPTIONAL , -- tissue/time of expression txsystem ENUMERATED { -- transcription apparatus used at this site unknown (0) , pol1 (1) , -- eukaryotic Pol I pol2 (2) , -- eukaryotic Pol II pol3 (3) , -- eukaryotic Pol III bacterial (4) , viral (5) , rna (6) , -- RNA replicase organelle (7) , other (255) } , txdescr VisibleString OPTIONAL , -- modifiers on txsystem txorg Org-ref OPTIONAL , -- organism supplying transcription apparatus mapping-precise BOOLEAN DEFAULT FALSE , -- mapping precise or approx location-accurate BOOLEAN DEFAULT FALSE , -- does Seq-loc reflect mapping inittype ENUMERATED { unknown (0) , single (1) , multiple (2) , region (3) } OPTIONAL , evidence SET OF Tx-evidence OPTIONAL } Tx-evidence ::= SEQUENCE { exp-code ENUMERATED { unknown (0) , rna-seq (1) , -- direct RNA sequencing rna-size (2) , -- RNA length measurement np-map (3) , -- nuclease protection mapping with homologous sequence ladder np-size (4) , -- nuclease protected fragment length measurement pe-seq (5) , -- dideoxy RNA sequencing cDNA-seq (6) , -- full-length cDNA sequencing pe-map (7) , -- primer extension mapping with homologous sequence ladder pe-size (8) , -- primer extension product length measurement pseudo-seq (9) , -- full-length processed pseudogene sequencing rev-pe-map (10) , -- see NOTE (1) below other (255) } , expression-system ENUMERATED { unknown (0) , physiological (1) , in-vitro (2) , oocyte (3) , transfection (4) , transgenic (5) , other (255) } DEFAULT physiological , low-prec-data BOOLEAN DEFAULT FALSE , from-homolog BOOLEAN DEFAULT FALSE } -- experiment actually done on -- close homolog -- NOTE (1) length measurement of a reverse direction primer-extension -- product (blocked by RNA 5'end) by comparison with -- homologous sequence ladder (J. Mol. Biol. 199, 587) END
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