{ "schema_version": 2, "is_synthetic": false, "is_reconstructed": true, "gene": "ADA", "species": "Homo sapiens", "transcript": "NM_000022.2", "assembly": "GRCh37 / UCSC hg19", "chromosome": "chr20", "strand": -1, "genomic_start_1based": 43248163, "genomic_end_1based": 43280376, "title": "ADA: зрелая мРНК и пре-мРНК на реальных данных", "description": "Один фиксированный пример человеческого ADA. Обе формы РНК реконструированы из сохранённого геномного участка hg19 и разметки refGene для NM_000022.2. Это референсная модель последовательности, не измерение РНК пациента; кеп, поли(А)-хвост и РНК-редактирование не моделируются.", "sources": [ { "title": "test_refseqs.fa · Counsyl pyhgvs, фиксированный снимок", "url": "https://raw.githubusercontent.com/counsyl/hgvs/ab9b95f21466fbb3265b5bd818ccab0c926ca59f/pyhgvs/tests/data/test_refseqs.fa", "sha256": "f1b1899951136fe679d6c3f2bc088228653bcd6d7f52513ba96bfba660e2c4c8", "scope": "Сохранённые геномные участки hg19. Запись NM_000022.2 здесь содержит НЕ зрелую мРНК, а геномный участок длиной 32214 нт." }, { "title": "genes.refGene · Counsyl pyhgvs, фиксированный снимок", "url": "https://raw.githubusercontent.com/counsyl/hgvs/ab9b95f21466fbb3265b5bd818ccab0c926ca59f/pyhgvs/data/genes.refGene", "sha256": "079bba13e9a401cb498e79d4738ff84a4e2353977816f32f08fffbd548f968db", "scope": "Разметка UCSC refGene: NM_000022.2, ADA, chr20, минус-цепь; координаты исходного файла 0-based, end-exclusive." }, { "title": "test_hgvs_names.py · Counsyl pyhgvs, фиксированный снимок", "url": "https://raw.githubusercontent.com/counsyl/hgvs/ab9b95f21466fbb3265b5bd818ccab0c926ca59f/pyhgvs/tests/test_hgvs_names.py", "sha256": "40ae69e6ebcbcfdaa6927d232cb20f06f5ad060beeb785ba6d6a6757e433497f", "scope": "В исходных тестах указан референс hg19.fa." }, { "title": "test_hgvs.genome · Counsyl pyhgvs, фиксированный снимок", "url": "https://raw.githubusercontent.com/counsyl/hgvs/ab9b95f21466fbb3265b5bd818ccab0c926ca59f/pyhgvs/tests/data/test_hgvs.genome", "sha256": "41c834a1e24398d466092de53b163b06ba289a1ac54c846c32202ff26d9e5f6e", "scope": "Внутренняя перекрёстная проверка 460 геномных позиций. Это не независимая экспериментальная валидация." } ], "source_commit": "ab9b95f21466fbb3265b5bd818ccab0c926ca59f", "validation": { "exon_concatenation_matches_mrna": true, "exon_count": 12, "intron_count": 11, "genomic_length": 32214, "mrna_length": 1532, "crosschecked_genomic_bases": 460, "cds_length": 1092, "cds_start": "AUG", "cds_stop": "UGA", "cds_internal_stop_codons": 0, "independent_rna_measurement": false }, "limitations": [ "Набор не является полным транскриптомом. Off-target без загруженной базы не проверяется.", "Скрининг интронов не подтверждает доставку siRNA в ядро или влияние на сплайсинг.", "Число прошедших окон не является оценкой эффективности; в интерфейсе выбираются позиции, а не лучшие молекулы.", "Это исторический фиксированный референс hg19/NM_000022.2, а не текущая версия транскрипта или сборка GRCh38." ], "records": [ { "id": "ADA_NM_000022.2_GRCh37_mrna", "form": "mrna", "sequence": "GGCCCGUUAAGAAGAGCGUGGCCGGCCGCGGCCACCGCUGGCCCCAGGGAAAGCCGAGCGGCCACCGAGCCGGCAGAGACCCACCGAGCGGCGGCGGAGGGAGCAGCGCCGGGGCGCACGAGGGCACCAUGGCCCAGACGCCCGCCUUCGACAAGCCCAAAGUGGAACUGCAUGUCCACCUAGACGGAUCCAUCAAGCCUGAAACCAUCUUAUACUAUGGCAGGAGGAGAGGGAUCGCCCUCCCAGCUAACACAGCAGAGGGGCUGCUGAACGUCAUUGGCAUGGACAAGCCGCUCACCCUUCCAGACUUCCUGGCCAAGUUUGACUACUACAUGCCUGCUAUCGCGGGCUGCCGGGAGGCUAUCAAAAGGAUCGCCUAUGAGUUUGUAGAGAUGAAGGCCAAAGAGGGCGUGGUGUAUGUGGAGGUGCGGUACAGUCCGCACCUGCUGGCCAACUCCAAAGUGGAGCCAAUCCCCUGGAACCAGGCUGAAGGGGACCUCACCCCAGACGAGGUGGUGGCCCUAGUGGGCCAGGGCCUGCAGGAGGGGGAGCGAGACUUCGGGGUCAAGGCCCGGUCCAUCCUGUGCUGCAUGCGCCACCAGCCCAACUGGUCCCCCAAGGUGGUGGAGCUGUGUAAGAAGUACCAGCAGCAGACCGUGGUAGCCAUUGACCUGGCUGGAGAUGAGACCAUCCCAGGAAGCAGCCUCUUGCCUGGACAUGUCCAGGCCUACCAGGAGGCUGUGAAGAGCGGCAUUCACCGUACUGUCCACGCCGGGGAGGUGGGCUCGGCCGAAGUAGUAAAAGAGGCUGUGGACAUACUCAAGACAGAGCGGCUGGGACACGGCUACCACACCCUGGAAGACCAGGCCCUUUAUAACAGGCUGCGGCAGGAAAACAUGCACUUCGAGAUCUGCCCCUGGUCCAGCUACCUCACUGGUGCCUGGAAGCCGGACACGGAGCAUGCAGUCAUUCGGCUCAAAAAUGACCAGGCUAACUACUCGCUCAACACAGAUGACCCGCUCAUCUUCAAGUCCACCCUGGACACUGAUUACCAGAUGACCAAACGGGACAUGGGCUUUACUGAAGAGGAGUUUAAAAGGCUGAACAUCAAUGCGGCCAAAUCUAGUUUCCUCCCAGAAGAUGAAAAGAGGGAGCUUCUCGACCUGCUCUAUAAAGCCUAUGGGAUGCCACCUUCAGCCUCUGCAGGGCAGAACCUCUGAAGACGCCACUCCUCCAAGCCUUCACCCUGUGGAGUCACCCCAACUCUGUGGGGCUGAGCAACAUUUUUACAUUUAUUCCUUCCAAGAAGACCAUGAUCUCAAUAGUCAGUUACUGAUGCUCCUGAACCCUAUGUGUCCAUUUCUGCACACACGUAUACCUCGGCAUGGCCGCGUCACUUCUCUGAUUAUGUGCCCUGGCCAGGGACCAGCGCCCUUGCACAUGGGCAUGGUUGAAUCUGAAACCCUCCUUCUGUGGCAACUUGUACUGAAAAUCUGGUGCUCAAUAAAGAAGCCCAUGGCUGGUGGCAUGCA", "length": 1532, "sequence_sha256": "5960637c2f6db3d5b8cb1757eb0825e2ac85041641eaed62606af60b09c728cb", "segments": [ { "kind": "exon", "label": "Экзон 1", "start": 1, "end": 161, "genomic_start": 43280216, "genomic_end": 43280376 }, { "kind": "exon", "label": "Экзон 2", "start": 162, "end": 223, "genomic_start": 43264868, "genomic_end": 43264929 }, { "kind": "exon", "label": "Экзон 3", "start": 224, "end": 346, "genomic_start": 43257688, "genomic_end": 43257810 }, { "kind": "exon", "label": "Экзон 4", "start": 347, "end": 490, "genomic_start": 43255097, "genomic_end": 43255240 }, { "kind": "exon", "label": "Экзон 5", "start": 491, "end": 606, "genomic_start": 43254210, "genomic_end": 43254325 }, { "kind": "exon", "label": "Экзон 6", "start": 607, "end": 734, "genomic_start": 43252843, "genomic_end": 43252970 }, { "kind": "exon", "label": "Экзон 7", "start": 735, "end": 806, "genomic_start": 43251648, "genomic_end": 43251719 }, { "kind": "exon", "label": "Экзон 8", "start": 807, "end": 908, "genomic_start": 43251470, "genomic_end": 43251571 }, { "kind": "exon", "label": "Экзон 9", "start": 909, "end": 973, "genomic_start": 43251229, "genomic_end": 43251293 }, { "kind": "exon", "label": "Экзон 10", "start": 974, "end": 1103, "genomic_start": 43249659, "genomic_end": 43249788 }, { "kind": "exon", "label": "Экзон 11", "start": 1104, "end": 1206, "genomic_start": 43248940, "genomic_end": 43249042 }, { "kind": "exon", "label": "Экзон 12", "start": 1207, "end": 1532, "genomic_start": 43248163, "genomic_end": 43248488 } ], "screening": { "window": 21, "gc_min": 30, "gc_max": 60, "total_windows": 1512, "passing_windows": 669, "rejected": { "ambiguous": 0, "gc": 686, "homopolymer": 157 }, "passing_by_region": { "exon": 600, "intron": 0, "exon_junction": 69, "exon_intron_boundary": 0 } } }, { "id": "ADA_NM_000022.2_GRCh37_pre_mrna", "form": "pre_mrna", "sequence": "GGCCCGUUAAGAAGAGCGUGGCCGGCCGCGGCCACCGCUGGCCCCAGGGAAAGCCGAGCGGCCACCGAGCCGGCAGAGACCCACCGAGCGGCGGCGGAGGGAGCAGCGCCGGGGCGCACGAGGGCACCAUGGCCCAGACGCCCGCCUUCGACAAGCCCAAAGUGAGCGCGCGCGGGGGCUCCGGGGACGGGGGUCCGGCGCCUGGGCGGCCCGAGGGGCUUAGCGGGGCCCAGCCCGGGGCGUCCAAACCCUGGGAACGAACGGGGGCUCCUGCAGGCGAGUUCUUCCUUCGGCUUAGGCCGUGGCUUGCUUGCGGGCUAAUCAGGGACAAUGGGGCAGAGAAGGUCCAGAACCCGGAGGCCUCCAGAGUCUGCUUCUGCCCCUGACUUGACCCCUCUGGGUCUCAGUUUCGCUGUCUGUCAAGUGGGCAUCCUAGCACCGCUGAGCGCUGUGUGGGCCUGGGCAGGGACUUGAGGUCUCUGAAGCUCAGCUGUAUGAUCAGGCCCGAUGUCUACGCCGGAUAGGCACCUAGUGCUGUGCCCGGCGCCUACUGAGUGCUCAGUGAAUGGAAGCAGCUUUGUACGCCAGCGUUAUGGUGGUGAGCGCCAAGGAGCUCAGGUUUGUGGAUGCGCCCCGGGGAAGAACCGUGAGCCCUGCCAGAAAGGGGAGGGAGGGGAGCAGAGCACCCCCCUUCCCCCGCGCGGGAAGAACAGGAGCUAGGUAGGCCCUGGGUUUGGGGCCCUAGCAGGGUUCACUCGAGGCCAAGCCAUGGCCACUGGCCCCAGGGGAGAAUCCCCUUGUUUCUCCGCCCACCAGCUGUGGCGUCUUGGGACUGUUGGGGUCAGGGAGGGUCUGGACCCCCUUGGCCUGUCGCAGAGUCCGAGAGGAGGGGCCCAGGAGUCUGCCAAGCAGGGUGAGUCAGCCAGUAGGGUGUGAGAGUGGUUGGGGAAGGAGUCAGCUGCAGUCAGCCUCAACUUACCCUUCUAAGAAAUAGGUGUGAGUGGCCCAGGAGGUUGGCUCACGCCUGUAAUCCCAGCACUUUGUGAGGCUGAGGCGGGAGGAUCAUUUGAGUCCAGGAGUUUGAGACUAGCCUGGACAACAAAACUAGACCCCGUCUCUCCAAAAAAUAAAAAAAGUUAGGGGAAGUGUGUGUGGUGGUGCACUCCCGUAGUCCCAGCUACUCAGGAGGCUGAGGCGGGAGGAUCGCUUGAGCCCAGGAGGUUGAGGCUGCAGUGAGGUGUGAUGGUGCCACUGCACUUCAGCCUGGGAGACAGAGCGAGACCCUGUCUCAAAAAAAAGAGAAGAAAAAGAAAAGAAAAGAAAUAGGUGUGAAUGAUGAUGACAGCUAUCACAAAAGUGCCGGUGAGAAUCCAGUGAGUGUGCAUGUGUCAGUGAGGGAGACAGGCUGUGGAGAGCCCACCUACCUUCUGAGGAGGGUGAGGCCUGGCCCCCACUACUGAUGCCCCCAGCCCAGGGAAAAUGCUCAGCUACUCCCCGUCAGAAGCUGGAAGCACUGAGGUGCUGUACAAGCCCUCCUACCCCCACCCCUGCCUCCUUCACGUCUUACUGGAGCUGGGGCCCAUGAUUGGCGCCUCCCCUUUGCAGUCUUUUUAUUAAAUGCUCUGGGCUCCCUCUGCCCUUGGGCUGGGGACCCACUGUACCCUGAUGUGAAUCCUAUGGCAAUAGCAAAGCUCUUUGAUUGGCGGGGUGCAGUGGCUCACGCCUAUAAUCCCAGCACUUUGGGAGGCAAAGGUGGGUGGAUCAUGAGGCCAGGAGUUCGAGACCAGCCUGGCCAACAUGGCAAAACCCCAUUUCUACUAAAAAUAUAAAAAAUUAGCUGGGCAUGGUGGCGGGCGCCUGUAGUCCCAGCUACGCAGAAGGCUGAGGCAGGAGAAUGGCAUAAACCCAGGAGGUGGAGCUUGCAGUGAGCCGAGAUCUCGCCAUUGCACUCCAGCCUGGGUGACAGAGUGAGACGCUGUCUCAAAAAAAAAAAAAAAAAAAAAAAGGCUCCUUGAUUGCGAACAUGUUGGGAGUUAUGGAGAGAACAGCAGGGCCCACUUCUAGAGCACUUGUUGCAGACACCCAUUGGAUCCUUGCAGUUCUUCUGUAACAGCCCAUCAAGGGAGGGGCUCAUAUUAUUAUCCCCAUUUUUUGGCCUUGCUCAGUCCUCCCAUCUGAUUCAAGCUGGCAGAUCAUUUUCCCUAUUGGGACCUCAGUGUCCACACCUGGAGGAUGGAACAUCAGCUGCUUAUGUGGGUGUCCCGUGUCCUGAGUCCCAAGGCCACAAGGUGAUGCUUGAGAGUGAAGGUAGAAUGUUACCUGCCAUGUGUUUGAGGCGUGACAAAUCUUGUAUGAUUGUGAGGAGGAACUUGUGUGAGCUGGCAGGAGAAGUGGGAAGGAGUGUGAAUCUCAGAGCCACUGUGACCAGAGCCAGCUCCCUGCCCUCUUGUGGGAGGGACAGAUGACAGUUAUAAUUAUUAGCAUUACUAGCUGCAGCUAAUGGAGUGUUGAUGUUUCUGUGCCAGGCACCGUUCUAAACACAUUAUCUGCAUUUUUUAUUUAAUCCAGGCACAGAGAGGUUAACUAGGCCCAAGAUCACACAGCUAGGAAAUGUCCAAUCUGGGGUUUGAGUCCAAGGGAGGCUGGCUUCGAAAUCCCAUGCCUCUAACCAUCUUUCCUAAACUACCUCUGCAGAAGCCUUUGGGGAUAGAGGUGCCAGUGCCCCAGGUGCAAACCUCCUGAGACAGGAGCCUUUGCUGUGUCCUUCAGCUUCUCAUACCUGCCACCAGCUGAGGCCUGGGACCUGGUCAGCUAGAAGAAAGCAGAGCAGGGCAGCGCUUUUCAAACUGCACUCAAGUGGCCUGACUUUUAAUGUUCACACUGUGAUUCUGUGUGGGUCGGGUUGGGGCCUGCGAUGCUGCACUGCUGACCAGCUCCCAGGAAAUGCUAAUGUCAACGAUCCAGGAACACACUUUGCUUAGCAAGGCCCUAGGCAGCUGCCUUCUGUUGUGCGGGACCCCUAUUGACUCCAAUGGAUAUAGCACCAGGUUCAAGAGGCUACCUUCUUUGGAAGAGGUAGCAAACAAGAUACGGGGUUUUACUGGGGGCUUAGACACAGGGAAGAGAGUCCAGUGGCGGCAGACUGAGCAGAAGAACCGCAACCACUUGCAAAUCAUGCAGUUUAUGUAGCAUUUUCAUUUAACACCUUCUCCCAACCAUCUCCACCUAGUAACCUUCAUUUAACCCAAAACAAAGGGCCUCGGUCCCUAUACCCCUGUAUGGUCAGUGUCCCGUGGGAAUGGGGUGGGGCUCAGAUGUUCCUCAUAGAUAACGACUGGAUCUCCAGGUUGGCCACUCUUGGAUUCCUUCGCUCAGAACUCUGAACACCCAUUCAAGUGUGCCUGCCAUGCAGGGUCAUCGUCAGGGGAUGCCCAAGUCAAGUUUGCCCUGUCGGGUGUGCCUCCCAUACCCCCACCUGGUUUGACUUAGCACCUGCUGGGCACUGGAAGAAGUGGAAAGGGGGGUUGCAGGGGUGGCCCUUAUCAGCCUAUGUUCACAGGUGGCACCAGGCACUCAGGCAUUCUGCAUCCUGGAGGCCAGUGCUGAUCACAUGCCUGUUACAAUAAUCAUAACAAUAGCUGUCCUUGAAGUAGUCCUGGGUACCAGGUGCCUUCAGUGACUUUUUCUUUUUUGCCAGAAUCUCACUCUGUCGCCCAAGCUGGAGUGCAGUGGCAAGAUUUUGGGUCCCUGCAACCUCUGCCUCCUGGGUUCAUGCGAUCCUCCUGCCUCAGCCUCCCAAGUAGCUGGGACUACAGGCGUGUGCCGCAGUCUCACUCUGUUGCCCAGGCUGGAGUGCAGUGGUGUGAUCCUGGCUCACUACAACCUCCACCUCCCGAGUUCAAGCCAUUCUUCUGCCUCAGCCUCCGGAGUAGCUGGGAUUACAGGCGUCCACCACCACGCCCGGCUAAUUUUUGUAUUUUUAGUAGAGACAGGGUUUCACCACGUUAGCCAGCUGGUCUCGAACUCCUGAUCUCAGGUGAUCCUCCCACCUUGGCUUCCCAAAGCGCUGGGAUUACAGGUGUGAGCCACUGUGCCCGGCUAGUAACUUUUAUCUCACGGAAUCCUCUGGACGACUUGACAAGGCAUGGGUCUUCAUCCCCAUUUACAGAUGAAGAAACUGAAGCUUAGGGAGUGGAGGGACUUGCCAGGGCUACACAAAAUCUGAGAGCCUUGAAGCUGUAGACUGGCAAGUGAACAGGUACAGGCUGGGACAGCAGUUUCUUUCUUUUUUUCUUUUUUUAGACAGAGUUUCGCUCUUGUUGCCCAGGCUGGAGUGCAAUGGCACGACCUCGGCUCACUGCAACCUUCGCCUCCCAGGUUCAAGUGAUUCUUCUGCCUCAGCCUCCCAAGUAGCUGGAAUUACAGGCAUGCACCACCAUGCCCGGCUAAUUUUUUGUAUUUUUAGUAGAGACGGGGUUUCUCCUUGUUGGCCAGGCUGGUCUCGAACUCCCGACUUCAGGUGAUCCGCCCACCUCAGCCUCCCAAAGUGCCGGGAUUACAGGCAUGAGCCACCGCACCCGGCCAAGGGACAGCAGUUUCUAAACUGUCCCUCUCUGAUGCAGAGGGGAAUUGGGGCUAAAUCAGCAAUGUGCCUUUUCUGUCUCAUAUUUGAAUGUCUACUCUGCACGAGGCGCUGUCCUGCUUUGCAUACAGUGACUCAUUUAAUGUUUAUGUCAGCCCUCUGAGGAAGGUCCUGUCCUAUUAUUAACUUCACUUAUUAUGAGGAAACUGAGACUCAGAGAGGGGAGGGAACUUGCCAAAGUCACACAGCUGGCAAGCAGCAGAGCUAGACUUGAACCCAGAUCUGCCUGCACUCAAGUAGAAGCUGUUCAUUGCUUUGCUCAUUUGCCAAUUCCACUUUAUGCAAAAAAGAGGGGGCAGUGUGGGGGGAAGAGUUAGAAUCAGGGUGGCAGGGUGGGCCAGUGCAUUAGCCCUGGGC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