1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188 189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208 209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228 229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248 249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268 269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288 289 290 291 292 293 294 295 296 297 298 299 300 301 302 303 304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323 324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343 344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363 364 365 366 367 368 369 370 371 372 373 374 375 376 377 378 379 380 381 382 383 384 385 386 387 388 389 390 391 392 393 394 395 396 397 398 399 400 401 402 403 404 405 406 407 408 409 410 411 412 413 414 415 416 417 418 419 420 421 422 423 424 425 426 427 428 429 430 431 432 433 434 435 436 437 438 439 440 441 442 443 444 445 446 447 448 449 450 451 452 453 454 455 456 457 458 459 460 461 462 463 464 465 466 467 468 469 470 471 472 473 474 475 476 477 478 479 480 481 482 483 484 485 486 487 488 489 490 491 492 493 494 495 496 497 498 499 500 501 502 503 504 505 506 507 508 509 510 511 512 513 514 515 516 517 518 519 520 521 522 523 524 525 526 527 528 529 530 531 532 533 534 535 536 537 538 539 540 541 542 543 544 545 546 547 548 549 550 551 552 553 554 555 556 557 558 559 560 561 562 563 564 565 566 567 568 569 570 571 572 573 574 575 576 577 578 579 580 581 582 583 584 585 586 587 588 589 590 591 592 593 594 595 596 597 598 599 600 601 602 603 604 605 606 607 608 609 610 611 612 613 614 615 616 617 618 619 620 621 622 623 624 625 626 627 628 629 630 631 632 633 634 635 636 637 638 639 640 641 642 643 644 645 646 647 648 649 650 651 652 653 654 655 656 657 658 659 660 661 662 663 664 665 666 667 668 669 670 671 672 673 674 675 676 677 678 679 680 681 682 683 684 685 686 687 688 689 690 691 692 693 694 695 696 697 698 699 700 701 702 703 704 705 706 707 708 709 710 711 712 713 714 715 716 717 718 719 720 721 722 723 724 725 726 727 728 729 730 731 732 733 734 735 736 737 738 739 740 741 742 743 744 745 746 747 748 749 750 751 752 753 754 755 756 757 758 759 760 761 762 763 764 765 766 767 768 769 770 771 772 773 774 775 776 777 778 779 780 781 782 783 784 785 786 787 788 789 790 791 792 793 794 795 796 797 798 799 800 801 802 803 804 805 806 807 808 809 810 811 812 813 814 815 816 817 818 819 820 821 822 823 824 825 826 827 828 829 830 831 832 833 834 835 836 837 838 839 840 841 842 843 844 845 846 847 848 849 850 851 852 853 854 855 856 857 858 859 860 861 862 863 864 865 866 867 868 869 870 871 872 873 874 875 876 877 878 879 880 881 882 883 884 885 886 887 888 889 890 891 892 893 894 895 896 897 898 899 900 901 902 903 904 905 906 907 908 909 910 911 912 913 914 915 916 917 918 919 920 921 922 923 924 925 926 927 928 929 930 931 932 933 934 935 936 937 938 939 940 941 942 943 944
|
<!-- ============================================
::DATATOOL:: Generated from "seqfeat.asn"
::DATATOOL:: by application DATATOOL version 2.3.1
::DATATOOL:: on 12/01/2011 23:05:19
============================================ -->
<!-- ============================================ -->
<!-- This section is mapped from module "NCBI-Variation"
================================================= -->
<!--
*** Variation-ref ***********************************************
*
* Specification of variation features
*
-->
<!-- Elements used by other modules:
Variation-ref,
Variation-inst,
VariantProperties,
Population-data,
Phenotype -->
<!-- Elements referenced from other modules:
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
-->
<!ELEMENT VariantProperties (
VariantProperties_version,
VariantProperties_resource-link?,
VariantProperties_gene-location?,
VariantProperties_effect?,
VariantProperties_mapping?,
VariantProperties_map-weight?,
VariantProperties_frequency-based-validation?,
VariantProperties_genotype?,
VariantProperties_project-data?,
VariantProperties_quality-check?,
VariantProperties_confidence?,
VariantProperties_other-validation?,
VariantProperties_allele-origin?,
VariantProperties_allele-state?,
VariantProperties_allele-frequency?,
VariantProperties_is-ancestral-allele?)>
<!ELEMENT VariantProperties_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.
-->
<!ELEMENT VariantProperties_resource-link (%INTEGER;)>
<!--
preserved - Clinical, Pubmed, Cited, (0x01)
provisional - Provisional Third Party Annotations (0x02)
has3D - Has 3D strcture SNP3D table (0x04)
submitterLinkout - SNP->SubSNP->Batch link_out (0x08)
clinical - Clinical if LSDB, OMIM, TPA, Diagnostic (0x10)
genotypeKit - Marker exists on high density genotyping kit
(0x20)
-->
<!ATTLIST VariantProperties_resource-link value (
preserved |
provisional |
has3D |
submitterLinkout |
clinical |
genotypeKit
) #IMPLIED >
<!ELEMENT VariantProperties_gene-location (%INTEGER;)>
<!--
in-gene - Sequence intervals covered by a gene ID but not
having an aligned transcript (0x01)
near-gene-5 - Within 2kb of the 5' end of a gene feature
near-gene-3 - Within 0.5kb of the 3' end of a gene feature
intron - In Intron (0x08)
donor - In donor splice-site (0x10)
acceptor - In acceptor splice-site (0x20)
utr-5 - In 5' UTR (0x40)
utr-3 - In 3' UTR (0x80)
in-start-codon - the variant is observed in a start codon
(0x100)
in-stop-codon - the variant is observed in a stop codon
(0x200)
intergenic - variant located between genes (0x400)
conserved-noncoding - variant is located in a conserved
non-coding region (0x800)
-->
<!ATTLIST VariantProperties_gene-location value (
in-gene |
near-gene-5 |
near-gene-3 |
intron |
donor |
acceptor |
utr-5 |
utr-3 |
in-start-codon |
in-stop-codon |
intergenic |
conserved-noncoding
) #IMPLIED >
<!ELEMENT VariantProperties_effect (%INTEGER;)>
<!--
no-change - 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 - one allele in the set does not change the encoded
amino acid (0x1)
nonsense - one allele in the set changes to STOP codon
(TER). (0x2)
missense - one allele in the set changes protein peptide
(0x4)
frameshift - one allele in the set changes all downstream
amino acids (0x8)
up-regulator - the variant causes increased transcription
(0x10)
down-regulator - the variant causes decreased transcription
(0x20)
stop-gain - reference codon is not stop codon, but the snp
variant allele changes the codon to a
terminating codon.
stop-loss - reverse of STOP-GAIN: reference codon is a
stop codon, but a snp variant allele changes
the codon to a non-terminating codon.
-->
<!ATTLIST VariantProperties_effect value (
no-change |
synonymous |
nonsense |
missense |
frameshift |
up-regulator |
down-regulator |
methylation |
stop-gain |
stop-loss
) #IMPLIED >
<!ELEMENT VariantProperties_mapping (%INTEGER;)>
<!--
has-other-snp - Another SNP has the same mapped positions
on reference assembly (0x01)
has-assembly-conflict - Weight 1 or 2 SNPs that map to different
chromosomes on different assemblies (0x02)
is-assembly-specific - Only maps to 1 assembly (0x04)
-->
<!ATTLIST VariantProperties_mapping value (
has-other-snp |
has-assembly-conflict |
is-assembly-specific
) #IMPLIED >
<!--
map-weight captures specificity of placement
NOTE: This is *NOT* a bitfield
-->
<!ELEMENT VariantProperties_map-weight (%INTEGER;)>
<!ATTLIST VariantProperties_map-weight value (
is-uniquely-placed |
placed-twice-on-same-chrom |
placed-twice-on-diff-chrom |
many-placements
) #IMPLIED >
<!ELEMENT VariantProperties_frequency-based-validation (%INTEGER;)>
<!--
is-mutation - low frequency variation that is cited in
journal or other reputable sources (0x01)
above-5pct-all - >5% minor allele freq in each and all
populations (0x02)
above-5pct-1plus - >5% minor allele freq in 1+ populations (0x04)
validated - Bit is set if the variant has a minor allele
observed in two or more separate chromosomes
above-1pct-all - >1% minor allele freq in each and all
populations (0x10)
above-1pct-1plus - >1% minor allele freq in 1+ populations (0x20)
-->
<!ATTLIST VariantProperties_frequency-based-validation value (
is-mutation |
above-5pct-all |
above-5pct-1plus |
validated |
above-1pct-all |
above-1pct-1plus
) #IMPLIED >
<!ELEMENT VariantProperties_genotype (%INTEGER;)>
<!--
in-haplotype-set - Exists in a haplotype tagging set (0x01)
has-genotypes - SNP has individual genotype (0x02)
-->
<!ATTLIST VariantProperties_genotype value (
in-haplotype-set |
has-genotypes
) #IMPLIED >
<!--
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'
-->
<!ELEMENT VariantProperties_project-data (VariantProperties_project-data_E*)>
<!ELEMENT VariantProperties_project-data_E (%INTEGER;)>
<!ELEMENT VariantProperties_quality-check (%INTEGER;)>
<!--
contig-allele-missing - Reference sequence allele at the mapped
position is not present in the SNP
allele list, adjusted for orientation
(0x01)
withdrawn-by-submitter - One member SS is withdrawn by submitter
(0x02)
non-overlapping-alleles - RS set has 2+ alleles from different
submissions and these sets share no
alleles in common (0x04)
strain-specific - Straing specific fixed difference (0x08)
genotype-conflict - Has Genotype Conflict (0x10)
-->
<!ATTLIST VariantProperties_quality-check value (
contig-allele-missing |
withdrawn-by-submitter |
non-overlapping-alleles |
strain-specific |
genotype-conflict
) #IMPLIED >
<!ELEMENT VariantProperties_confidence (%INTEGER;)>
<!ATTLIST VariantProperties_confidence value (
unknown |
likely-artifact |
other
) #IMPLIED >
<!--
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
-->
<!ELEMENT VariantProperties_other-validation EMPTY>
<!ATTLIST VariantProperties_other-validation value ( true | false ) #REQUIRED >
<!--
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
-->
<!ELEMENT VariantProperties_allele-origin (%INTEGER;)>
<!--
other - stopper - 2^31
-->
<!ATTLIST VariantProperties_allele-origin value (
unknown |
germline |
somatic |
inherited |
paternal |
maternal |
de-novo |
biparental |
uniparental |
not-tested |
tested-inconclusive |
not-reported |
other
) #IMPLIED >
<!--
observed allele state, if known
NOTE: THIS IS NOT A BITFIELD!
-->
<!ELEMENT VariantProperties_allele-state (%INTEGER;)>
<!ATTLIST VariantProperties_allele-state value (
unknown |
homozygous |
heterozygous |
hemizygous |
nullizygous |
other
) #IMPLIED >
<!--
NOTE:
'allele-frequency' here refers to the minor allele frequency of the
default population
-->
<!ELEMENT VariantProperties_allele-frequency (%REAL;)>
<!-- is this variant the ancestral allele? -->
<!ELEMENT VariantProperties_is-ancestral-allele EMPTY>
<!ATTLIST VariantProperties_is-ancestral-allele value ( true | false ) #REQUIRED >
<!ELEMENT Phenotype (
Phenotype_source?,
Phenotype_term?,
Phenotype_xref?,
Phenotype_clinical-significance?)>
<!ELEMENT Phenotype_source (#PCDATA)>
<!ELEMENT Phenotype_term (#PCDATA)>
<!ELEMENT Phenotype_xref (Dbtag*)>
<!-- does this variant have known clinical significance? -->
<!ELEMENT Phenotype_clinical-significance (%INTEGER;)>
<!ATTLIST Phenotype_clinical-significance value (
unknown |
untested |
non-pathogenic |
probable-non-pathogenic |
probable-pathogenic |
pathogenic |
drug-response |
histocompatibility |
other
) #IMPLIED >
<!ELEMENT Population-data (
Population-data_population,
Population-data_genotype-frequency?,
Population-data_chromosomes-tested?,
Population-data_sample-ids?,
Population-data_allele-frequency?,
Population-data_flags?)>
<!-- assayed population (e.g. HAPMAP-CEU) -->
<!ELEMENT Population-data_population (#PCDATA)>
<!ELEMENT Population-data_genotype-frequency (%REAL;)>
<!ELEMENT Population-data_chromosomes-tested (%INTEGER;)>
<!ELEMENT Population-data_sample-ids (Object-id*)>
<!ELEMENT Population-data_allele-frequency (%REAL;)>
<!--
This field is an explicit bit-field
Valid values should be a bitwise combination (= simple sum)
of any of the values below
-->
<!ELEMENT Population-data_flags (%INTEGER;)>
<!ATTLIST Population-data_flags value (
is-default-population |
is-minor-allele |
is-rare-allele
) #IMPLIED >
<!ELEMENT Ext-loc (
Ext-loc_id,
Ext-loc_location)>
<!ELEMENT Ext-loc_id (Object-id)>
<!ELEMENT Ext-loc_location (Seq-loc)>
<!ELEMENT Variation-ref (
Variation-ref_id?,
Variation-ref_parent-id?,
Variation-ref_sample-id?,
Variation-ref_other-ids?,
Variation-ref_name?,
Variation-ref_synonyms?,
Variation-ref_description?,
Variation-ref_phenotype?,
Variation-ref_method?,
Variation-ref_population-data?,
Variation-ref_variant-prop?,
Variation-ref_validated?,
Variation-ref_clinical-test?,
Variation-ref_allele-origin?,
Variation-ref_allele-state?,
Variation-ref_allele-frequency?,
Variation-ref_is-ancestral-allele?,
Variation-ref_pub?,
Variation-ref_data,
Variation-ref_consequence?,
Variation-ref_location?,
Variation-ref_ext-locs?,
Variation-ref_ext?,
Variation-ref_somatic-origin?)>
<!--
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
-->
<!ELEMENT Variation-ref_id (Dbtag)>
<!ELEMENT Variation-ref_parent-id (Dbtag)>
<!ELEMENT Variation-ref_sample-id (Object-id)>
<!ELEMENT Variation-ref_other-ids (Dbtag*)>
<!--
names and synonyms
some variants have well-known canonical names and possible accepted
synonyms
-->
<!ELEMENT Variation-ref_name (#PCDATA)>
<!ELEMENT Variation-ref_synonyms (Variation-ref_synonyms_E*)>
<!ELEMENT Variation-ref_synonyms_E (#PCDATA)>
<!-- tag for comment and descriptions -->
<!ELEMENT Variation-ref_description (#PCDATA)>
<!-- phenotype -->
<!ELEMENT Variation-ref_phenotype (Phenotype*)>
<!-- sequencing / acuisition method -->
<!ELEMENT Variation-ref_method (Variation-ref_method_E*)>
<!ELEMENT Variation-ref_method_E (%INTEGER;)>
<!ATTLIST Variation-ref_method_E value (
unknown |
bac-acgh |
computational |
curated |
digital-array |
expression-array |
fish |
flanking-sequence |
maph |
mcd-analysis |
mlpa |
oea-assembly |
oligo-acgh |
paired-end |
pcr |
qpcr |
read-depth |
roma |
rt-pcr |
sage |
sequence-alignment |
sequencing |
snp-array |
snp-genoytyping |
southern |
western |
optical-mapping |
other
) #IMPLIED >
<!--
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
-->
<!ELEMENT Variation-ref_population-data (Population-data*)>
<!-- variant properties bit fields -->
<!ELEMENT Variation-ref_variant-prop (VariantProperties)>
<!--
has this variant been validated?
DEPRECATED: new field = VariantProperties.other-validation
-->
<!ELEMENT Variation-ref_validated EMPTY>
<!ATTLIST Variation-ref_validated value ( true | false ) #REQUIRED >
<!--
link-outs to GeneTests database
DEPRECATED - do not use
-->
<!ELEMENT Variation-ref_clinical-test (Dbtag*)>
<!--
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
-->
<!ELEMENT Variation-ref_allele-origin (%INTEGER;)>
<!--
other - stopper - 2^31
-->
<!ATTLIST Variation-ref_allele-origin value (
unknown |
germline |
somatic |
inherited |
paternal |
maternal |
de-novo |
biparental |
uniparental |
not-tested |
tested-inconclusive |
other
) #IMPLIED >
<!--
observed allele state, if known
DEPRECATED: new field = VariantProperties.allele-state
-->
<!ELEMENT Variation-ref_allele-state (%INTEGER;)>
<!ATTLIST Variation-ref_allele-state value (
unknown |
homozygous |
heterozygous |
hemizygous |
nullizygous |
other
) #IMPLIED >
<!--
NOTE:
'allele-frequency' here refers to the minor allele frequency of the
default population
DEPRECATED: new field = VariantProperties.allele-frequency
-->
<!ELEMENT Variation-ref_allele-frequency (%REAL;)>
<!--
is this variant the ancestral allele?
DEPRECATED: new field = VariantProperties.is-ancestral-allele
-->
<!ELEMENT Variation-ref_is-ancestral-allele EMPTY>
<!ATTLIST Variation-ref_is-ancestral-allele value ( true | false ) #REQUIRED >
<!--
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
-->
<!ELEMENT Variation-ref_pub (Pub)>
<!ELEMENT Variation-ref_data (
Variation-ref_data_unknown |
Variation-ref_data_note |
Variation-ref_data_uniparental-disomy |
Variation-ref_data_instance |
Variation-ref_data_set |
Variation-ref_data_complex)>
<!ELEMENT Variation-ref_data_unknown EMPTY>
<!--free-form -->
<!ELEMENT Variation-ref_data_note (#PCDATA)>
<!ELEMENT Variation-ref_data_uniparental-disomy EMPTY>
<!-- actual sequence-edit at feat.location -->
<!ELEMENT Variation-ref_data_instance (Variation-inst)>
<!--
Set of related Variations.
Location of the set equals to the union of member locations
-->
<!ELEMENT Variation-ref_data_set (
Variation-ref_data_set_type,
Variation-ref_data_set_variations,
Variation-ref_data_set_name?)>
<!ELEMENT Variation-ref_data_set_type (%INTEGER;)>
<!--
compound - complex change at the same location on the
same molecule
products - different products arising from the same
variation in a precursor, e.g. r.[13g>a,
13_88del]
haplotype - changes on the same allele, e.g
r.[13g>a;15u>c]
genotype - changes on different alleles in the same
genotype, e.g. g.[476C>T]+[476C>T]
mosaic - different genotypes in the same individual
individual - same organism; allele relationship unknown,
e.g. g.[476C>T(+)183G>C]
population - population
alleles - set represents a set of observed alleles
package - set represents a package of observations at
a given location, generally containing
asserted + reference
-->
<!ATTLIST Variation-ref_data_set_type value (
unknown |
compound |
products |
haplotype |
genotype |
mosaic |
individual |
population |
alleles |
package |
other
) #IMPLIED >
<!ELEMENT Variation-ref_data_set_variations (Variation-ref*)>
<!ELEMENT Variation-ref_data_set_name (#PCDATA)>
<!--
variant is a complex and undescribed change at the location
This type of variant is known to occur in dbVar submissions
-->
<!ELEMENT Variation-ref_data_complex EMPTY>
<!ELEMENT Variation-ref_consequence (Variation-ref_consequence_E*)>
<!ELEMENT Variation-ref_consequence_E (
Variation-ref_consequence_E_unknown |
Variation-ref_consequence_E_splicing |
Variation-ref_consequence_E_note |
Variation-ref_consequence_E_variation |
Variation-ref_consequence_E_frameshift |
Variation-ref_consequence_E_loss-of-heterozygosity)>
<!ELEMENT Variation-ref_consequence_E_unknown EMPTY>
<!--some effect on splicing -->
<!ELEMENT Variation-ref_consequence_E_splicing EMPTY>
<!--freeform -->
<!ELEMENT Variation-ref_consequence_E_note (#PCDATA)>
<!--
Describe resulting variation in the product, e.g. missense,
nonsense, silent, neutral, etc in a protein, that arises from
THIS variation.
-->
<!ELEMENT Variation-ref_consequence_E_variation (Variation-ref)>
<!-- see http://www.hgvs.org/mutnomen/recs-prot.html -->
<!ELEMENT Variation-ref_consequence_E_frameshift (
Variation-ref_consequence_E_frameshift_phase?,
Variation-ref_consequence_E_frameshift_x-length?)>
<!ELEMENT Variation-ref_consequence_E_frameshift_phase (%INTEGER;)>
<!ELEMENT Variation-ref_consequence_E_frameshift_x-length (%INTEGER;)>
<!ELEMENT Variation-ref_consequence_E_loss-of-heterozygosity (
Variation-ref_consequence_E_loss-of-heterozygosity_reference?,
Variation-ref_consequence_E_loss-of-heterozygosity_test?)>
<!--
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.
-->
<!ELEMENT Variation-ref_consequence_E_loss-of-heterozygosity_reference (#PCDATA)>
<!-- Name of the testing subject type or the testing tissue. -->
<!ELEMENT Variation-ref_consequence_E_loss-of-heterozygosity_test (#PCDATA)>
<!--
Observed location, if different from the parent set or feature.location.
DEPRECATED - do not use
-->
<!ELEMENT Variation-ref_location (Seq-loc)>
<!--
reference other locs, e.g. mapped source
DEPRECATED - do not use
-->
<!ELEMENT Variation-ref_ext-locs (Ext-loc*)>
<!-- DEPRECATED - do not use; use Seq-feat.exts instead -->
<!ELEMENT Variation-ref_ext (User-object)>
<!ELEMENT Variation-ref_somatic-origin (Variation-ref_somatic-origin_E*)>
<!ELEMENT Variation-ref_somatic-origin_E (
Variation-ref_somatic-origin_E_source?,
Variation-ref_somatic-origin_E_condition?)>
<!-- description of the somatic origin itself -->
<!ELEMENT Variation-ref_somatic-origin_E_source (SubSource)>
<!-- condition related to this origin's type -->
<!ELEMENT Variation-ref_somatic-origin_E_condition (
Variation-ref_somatic-origin_E_condition_description?,
Variation-ref_somatic-origin_E_condition_object-id?)>
<!ELEMENT Variation-ref_somatic-origin_E_condition_description (#PCDATA)>
<!-- reference to BioTerm / other descriptive database -->
<!ELEMENT Variation-ref_somatic-origin_E_condition_object-id (Dbtag*)>
<!ELEMENT Delta-item (
Delta-item_seq?,
Delta-item_multiplier?,
Delta-item_multiplier-fuzz?,
Delta-item_action?)>
<!ELEMENT Delta-item_seq (
Delta-item_seq_literal |
Delta-item_seq_loc |
Delta-item_seq_this)>
<!ELEMENT Delta-item_seq_literal (Seq-literal)>
<!ELEMENT Delta-item_seq_loc (Seq-loc)>
<!--same location as variation-ref itself -->
<!ELEMENT Delta-item_seq_this EMPTY>
<!--
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.
assumed 1 if not specified.
-->
<!ELEMENT Delta-item_multiplier (%INTEGER;)>
<!ELEMENT Delta-item_multiplier-fuzz (Int-fuzz)>
<!ELEMENT Delta-item_action (%INTEGER;)>
<!--
morph - replace len(seq) positions starting with location.start with seq
offset - go downstream by distance specified by multiplier (upstream if < 0),
in genomic context.
del-at - excise sequence at location
if multiplier is specified, delete len(location)*multiplier
positions downstream
ins-before - insert seq before the location.start
-->
<!ATTLIST Delta-item_action value (
morph |
offset |
del-at |
ins-before
) #IMPLIED >
<!-- Variation instance -->
<!ELEMENT Variation-inst (
Variation-inst_type,
Variation-inst_delta,
Variation-inst_observation?)>
<!ELEMENT Variation-inst_type (%INTEGER;)>
<!--
unknown - delta=[]
identity - delta=[]
inv - delta=[del, ins.seq=
RevComp(variation-location)]
snv - 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 - delta=[morph of length >1]
delins - delta=[del, ins]
del - delta=[del]
ins - delta=[ins]
microsatellite - delta=[del, ins.seq= repeat-unit with fuzzy
multiplier]
variation-location is the microsat expansion
on the sequence
transposon - delta=[del, ins.seq= known donor or 'this']
variation-location is equiv of transposon
locs.
cnv - delta=[del, ins= 'this' with fuzzy
multiplier]
direct-copy - delta=[ins.seq= upstream location on the
same strand]
rev-direct-copy - delta=[ins.seq= downstream location on the
same strand]
inverted-copy - delta=[ins.seq= upstream location on the
opposite strand]
everted-copy - delta=[ins.seq= downstream location on the
opposite strand]
translocation - delta=like delins
prot-missense - delta=[morph of length 1]
prot-nonsense - delta=[del]; variation-location is the tail
of the protein being truncated
prot-neutral - delta=[morph of length 1]
prot-silent - delta=[morph of length 1, same AA as at
variation-location]
prot-other - delta=any
other - delta=any
-->
<!ATTLIST Variation-inst_type value (
unknown |
identity |
inv |
snv |
mnp |
delins |
del |
ins |
microsatellite |
transposon |
cnv |
direct-copy |
rev-direct-copy |
inverted-copy |
everted-copy |
translocation |
prot-missense |
prot-nonsense |
prot-neutral |
prot-silent |
prot-other |
other
) #IMPLIED >
<!-- Sequence that replaces the location, in biological order. -->
<!ELEMENT Variation-inst_delta (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.
-->
<!ELEMENT Variation-inst_observation (%INTEGER;)>
<!--
asserted - inst represents the asserted base at a
position
reference - inst represents the reference base at the
position
variant - inst represent the observed variant at a
given position
-->
<!ATTLIST Variation-inst_observation value (
asserted |
reference |
variant
) #IMPLIED >
|