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[ | |
{ | |
"id": 0, | |
"value": "My Home", | |
"label": "My Home", | |
"children": [1, 31, 39] | |
}, | |
{ | |
"id": 1, | |
"value": "transcript_variant", | |
"label": "Transcript variant", | |
"children": [2, 19, 25, 29, 30], | |
"parent": 0 | |
}, | |
{ | |
"id": 2, | |
"value": "coding_variant", | |
"label": "Coding variant", | |
"children": [3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18], | |
"parent": 1 | |
}, | |
{ | |
"id": 3, | |
"value": "coding_sequence_variant", | |
"label": "Coding sequence variant", | |
"n": 18057, | |
"description": "A sequence variant that changes the coding sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 4, | |
"value": "feature_elongation", | |
"label": "Feature elongation", | |
"n": 0, | |
"description": "A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 5, | |
"value": "feature_truncation", | |
"label": "Feature truncation", | |
"n": 0, | |
"description": "A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 6, | |
"value": "frameshift_variant", | |
"label": "Frameshift variant", | |
"n": 506417, | |
"description": "A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three", | |
"parent": 2 | |
}, | |
{ | |
"id": 7, | |
"value": "incomplete_terminal_codon_variant", | |
"label": "Incomplete terminal codon variant", | |
"n": 3443, | |
"description": "A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed", | |
"parent": 2 | |
}, | |
{ | |
"id": 8, | |
"value": "inframe_deletion", | |
"label": "Inframe deletion", | |
"n": 143302, | |
"description": "An inframe non synonymous variant that deletes bases from the coding sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 9, | |
"value": "inframe_insertion", | |
"label": "Inframe insertion", | |
"n": 50924, | |
"description": "An inframe non synonymous variant that inserts bases into in the coding sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 10, | |
"value": "missense_variant", | |
"label": "Missense variant", | |
"n": 12385885, | |
"description": "A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved", | |
"parent": 2 | |
}, | |
{ | |
"id": 11, | |
"value": "NMD_transcript_variant", | |
"label": "NMD transcript variant", | |
"n": 20962310, | |
"description": "A variant in a transcript that is the target of NMD", | |
"parent": 2 | |
}, | |
{ | |
"id": 12, | |
"value": "protein_altering_variant", | |
"label": "Protein altering variant", | |
"n": 3482, | |
"description": "A sequence_variant which is predicted to change the protein encoded in the coding sequence", | |
"parent": 2 | |
}, | |
{ | |
"id": 13, | |
"value": "synonymous_variant", | |
"label": "Synonymous variant", | |
"n": 6340518, | |
"description": "A sequence variant where there is no resulting change to the encoded amino acid", | |
"parent": 2 | |
}, | |
{ | |
"id": 14, | |
"value": "start_lost", | |
"label": "Start lost", | |
"n": 38719, | |
"description": "A codon variant that changes at least one base of the canonical start codon", | |
"parent": 2 | |
}, | |
{ | |
"id": 15, | |
"value": "stop_gained", | |
"label": "Stop gained", | |
"n": 402831, | |
"description": "A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript", | |
"parent": 2 | |
}, | |
{ | |
"id": 16, | |
"value": "stop_lost", | |
"label": "Stop lost", | |
"n": 16247, | |
"description": "A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript", | |
"parent": 2 | |
}, | |
{ | |
"id": 17, | |
"value": "start_retained_variant", | |
"label": "Start retained variant", | |
"n": 585, | |
"description": "A sequence variant where at least one base in the start codon is changed, but the start remains", | |
"parent": 2 | |
}, | |
{ | |
"id": 18, | |
"value": "stop_retained_variant", | |
"label": "Stop retained variant", | |
"n": 7754, | |
"description": "A sequence variant where at least one base in the terminator codon is changed, but the terminator remains", | |
"parent": 2 | |
}, | |
{ | |
"id": 19, | |
"label": "Non-coding variant", | |
"children": [20, 21, 22, 23, 24], | |
"parent": 1 | |
}, | |
{ | |
"id": 20, | |
"value": "3_prime_UTR_variant", | |
"label": "3 prime UTR variant", | |
"n": 4109311, | |
"description": "A UTR variant of the 3' UTR", | |
"parent": 19 | |
}, | |
{ | |
"id": 21, | |
"value": "5_prime_UTR_variant", | |
"label": "5 prime UTR variant", | |
"description": "A UTR variant of the 5' UTR", | |
"parent": 19, | |
"children": [43] | |
}, | |
{ | |
"id": 22, | |
"value": "intron_variant", | |
"label": "Intron variant", | |
"n": 212366571, | |
"description": "A transcript variant occurring within an intron", | |
"parent": 19 | |
}, | |
{ | |
"id": 23, | |
"value": "non_coding_transcript_exon_variant", | |
"label": "Non coding transcript exon variant", | |
"n": 7450628, | |
"description": "A sequence variant that changes non-coding exon sequence in a non-coding transcript", | |
"parent": 19 | |
}, | |
{ | |
"id": 24, | |
"value": "non_coding_transcript_variant", | |
"label": "Non coding transcript variant", | |
"n": 52390424, | |
"description": "A transcript variant of a non coding RNA gene", | |
"parent": 19 | |
}, | |
{ | |
"id": 25, | |
"label": "Splice variant", | |
"children": [26, 27, 28], | |
"parent": 1 | |
}, | |
{ | |
"id": 26, | |
"value": "splice_acceptor_variant", | |
"label": "Splice acceptor variant", | |
"n": 172987, | |
"description": "A splice variant that changes the 2 base region at the 3' end of an intron", | |
"parent": 25 | |
}, | |
{ | |
"id": 27, | |
"value": "splice_donor_variant", | |
"label": "Splice donor variant", | |
"n": 210311, | |
"description": "A splice variant that changes the 2 base region at the 5' end of an intron", | |
"parent": 25 | |
}, | |
{ | |
"id": 28, | |
"value": "splice_region_variant", | |
"label": "Splice region variant", | |
"n": 2785532, | |
"description": "A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron", | |
"parent": 25 | |
}, | |
{ | |
"id": 29, | |
"value": "transcript_ablation", | |
"label": "Transcript ablation", | |
"n": 18, | |
"description": "A feature ablation whereby the deleted region includes a transcript feature", | |
"parent": 1 | |
}, | |
{ | |
"id": 30, | |
"value": "transcript_amplification", | |
"label": "Transcript amplification", | |
"n": 0, | |
"description": "A feature amplification of a region containing a transcript", | |
"parent": 1 | |
}, | |
{ | |
"id": 31, | |
"label": "Regulatory variant", | |
"children": [32, 33, 34, 35, 36, 37, 38], | |
"parent": 0 | |
}, | |
{ | |
"id": 32, | |
"value": "mature_miRNA_variant", | |
"label": "Mature miRNA variant", | |
"n": 6871, | |
"description": "A transcript variant located with the sequence of the mature miRNA", | |
"parent": 31 | |
}, | |
{ | |
"id": 33, | |
"value": "regulatory_region_ablation", | |
"label": "Regulatory region ablation", | |
"n": 0, | |
"description": "A feature ablation whereby the deleted region includes a regulatory region", | |
"parent": 31 | |
}, | |
{ | |
"id": 34, | |
"value": "regulatory_region_amplification", | |
"label": "Regulatory region amplification", | |
"n": 0, | |
"description": "A feature amplification of a region containing a regulatory region", | |
"parent": 31 | |
}, | |
{ | |
"id": 35, | |
"value": "regulatory_region_variant", | |
"label": "Regulatory region variant", | |
"n": 0, | |
"description": "A sequence variant located within a regulatory region", | |
"parent": 31 | |
}, | |
{ | |
"id": 36, | |
"value": "TF_binding_site_variant", | |
"label": "TF binding site variant", | |
"n": 0, | |
"description": "A sequence variant located within a transcription factor binding site", | |
"parent": 31 | |
}, | |
{ | |
"id": 37, | |
"value": "TFBS_ablation", | |
"label": "TFBS ablation", | |
"n": 0, | |
"description": "A feature ablation whereby the deleted region includes a transcription factor binding site", | |
"parent": 31 | |
}, | |
{ | |
"id": 38, | |
"value": "TFBS_amplification", | |
"label": "TFBS amplification", | |
"n": 0, | |
"description": "A feature amplification of a region containing a transcription factor binding site", | |
"parent": 31 | |
}, | |
{ | |
"id": 39, | |
"label": "Intergenic variant", | |
"children": [40, 41, 42], | |
"parent": 0 | |
}, | |
{ | |
"id": 40, | |
"value": "downstream_gene_variant", | |
"label": "Downstream gene variant", | |
"n": 0, | |
"description": "A sequence variant located 3' of a gene", | |
"parent": 39 | |
}, | |
{ | |
"id": 41, | |
"value": "intergenic_variant", | |
"label": "Intergenic variant", | |
"n": 38329053, | |
"description": "A sequence variant located in the intergenic region, between genes", | |
"parent": 39 | |
}, | |
{ | |
"id": 42, | |
"value": "upstream_gene_variant", | |
"label": "Upstream gene variant", | |
"n": 0, | |
"description": "A sequence variant located 5' of a gene", | |
"parent": 39 | |
}, | |
{ | |
"id": 43, | |
"value": "shine_dalgarno_sequence", | |
"label": "Shine–Dalgarno sequence", | |
"description": "ribosomal binding site in bacterial and archaeal messenger RNA", | |
"parent": 21, | |
"children": [44] | |
}, | |
{ | |
"id": 44, | |
"value": "pyrimidine", | |
"label": "Pyrimidine", | |
"description": "aromatic heterocyclic organic compound similar to pyridine", | |
"parent": 43, | |
"children": [45] | |
}, | |
{ | |
"id": 45, | |
"value": "pyrimidine2", | |
"label": "Pyrimidine2 really long-long-long label", | |
"description": "ribosomal binding site in bacterial and archaeal messenger RNA", | |
"parent": 44, | |
"children": [46] | |
}, | |
{ | |
"id": 46, | |
"value": "pyrimidine2", | |
"label": "Pyrimidine2 really long-long-long label 2", | |
"n": 1546374, | |
"description": "ribosomal binding site in bacterial and archaeal messenger RNA", | |
"parent": 45 | |
} | |
] |
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