Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000549011 [[88536072, 88536173], [88542064, 88542281], [88547067, 88547286], [88548064, 88548101]] [[88542092, 88542281], [88547067, 88547286], [88548064, 88548101]]
ENST00000547034 [[88536072, 88536264], [88542064, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88566742, 88566866], [88568383, 88568504], [88569984, 88570096], [88582619, 88582685]] [[88542092, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88566742, 88566764]]
ENST00000266712 [[88536072, 88536264], [88542064, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88568383, 88568504], [88569984, 88570096], [88582619, 88582723], [88584229, 88584399], [88586380, 88586607], [88588614, 88593664]] [[88542092, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88568383, 88568504], [88569984, 88570096], [88582619, 88582723], [88584229, 88584399], [88586380, 88586607], [88588614, 88589426]]
ENST00000551088 [[88536083, 88536264], [88542064, 88542281], [88548064, 88548164], [88553890, 88554006], [88554455, 88554487]] [[88542092, 88542281], [88548064, 88548164], [88553890, 88554006], [88554455, 88554487]]
NM_181783 [[88536072, 88536264], [88542064, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88568383, 88568504], [88569984, 88570096], [88582619, 88582723], [88584229, 88584399], [88586380, 88586607], [88588614, 88593664]] [[88542092, 88542281], [88547067, 88547286], [88548064, 88548164], [88553890, 88554006], [88554455, 88554628], [88560106, 88560359], [88566373, 88566522], [88568383, 88568504], [88569984, 88570096], [88582619, 88582723], [88584229, 88584399], [88586380, 88586607], [88588614, 88589426]]
Promoter
Chrom Start End Description
chr12 88536067 88536100 CAGE_peak_1_at_TMTC3_5end
chr12 88536101 88536159 CAGE_peak_2_at_TMTC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I088144 88144186 88146793 0.88 [{'connected_gene': 'CEP290', 'score': 18.74}, {'connected_gene': 'TMTC3', 'score': 10.36}, {'connected_gene': 'C12orf29', 'score': 7.47}, {'connected_gene': 'PIR56802', 'score': 0.18}]
chr12 GH12I088141 88141163 88143813 2.06 [{'connected_gene': 'CEP290', 'score': 568.74}, {'connected_gene': 'TMTC3', 'score': 550.77}, {'connected_gene': 'PIR56802', 'score': 0.17}]
chr12 GH12I088034 88034807 88037225 2.02 [{'connected_gene': 'C12orf50', 'score': 550.77}, {'connected_gene': 'C12orf29', 'score': 550.77}, {'connected_gene': 'CEP290', 'score': 16.82}, {'connected_gene': 'TMTC3', 'score': 9.13}, {'connected_gene': 'RNA5SP364', 'score': 0.37}]
chr12 GH12I088297 88297765 88301514 1.52 [{'connected_gene': 'TMTC3', 'score': 9.33}, {'connected_gene': 'C12orf29', 'score': 5.07}, {'connected_gene': 'LOC101929554', 'score': 0.2}, {'connected_gene': 'GC12P088431', 'score': 0.12}]
chr12 GH12I088307 88307545 88311143 1.28 [{'connected_gene': 'TMTC3', 'score': 5.78}, {'connected_gene': 'C12orf29', 'score': 5.24}, {'connected_gene': 'LOC101929554', 'score': 0.18}, {'connected_gene': 'GC12P088431', 'score': 0.13}]
chr12 GH12I087157 87157864 87158033 0.63 [{'connected_gene': 'TMTC3', 'score': 16.37}, {'connected_gene': 'CEP290', 'score': 13.07}, {'connected_gene': 'LOC100420011', 'score': 10.35}, {'connected_gene': 'GC12M087170', 'score': 0.39}, {'connected_gene': 'LOC105369878', 'score': 0.15}]
chr12 GH12I088137 88137719 88138053 0.26 [{'connected_gene': 'TMTC3', 'score': 10.54}, {'connected_gene': 'CEP290', 'score': 0.77}, {'connected_gene': 'GC12P088065', 'score': 0.19}]
chr12 GH12I088181 88181505 88182498 0.66 [{'connected_gene': 'TMTC3', 'score': 11.39}, {'connected_gene': 'CEP290', 'score': 4.15}, {'connected_gene': 'PIR56802', 'score': 0.25}]
chr12 GH12I088166 88166970 88168447 0.2 [{'connected_gene': 'TMTC3', 'score': 22.7}, {'connected_gene': 'CEP290', 'score': 11.59}, {'connected_gene': 'PIR56802', 'score': 0.22}]
chr12 GH12I088936 88936998 88938913 0.2 [{'connected_gene': 'TMTC3', 'score': 4.14}, {'connected_gene': 'GC12M088882', 'score': 0.28}, {'connected_gene': 'LINC02458', 'score': 0.18}]
chr12 GH12I088562 88562374 88564053 0.74 [{'connected_gene': 'TMTC3', 'score': 4.93}, {'connected_gene': 'ENSG00000281333', 'score': 0.37}, {'connected_gene': 'KITLG', 'score': 0.37}, {'connected_gene': 'ENSG00000199245', 'score': 0.12}]
chr12 GH12I088566 88566174 88566960 0.62 [{'connected_gene': 'TMTC3', 'score': 4.17}, {'connected_gene': 'ENSG00000281333', 'score': 0.39}, {'connected_gene': 'KITLG', 'score': 0.39}, {'connected_gene': 'ENSG00000199245', 'score': 0.12}]
chr12 GH12I088324 88324200 88327279 0.99 [{'connected_gene': 'TMTC3', 'score': 7.37}, {'connected_gene': 'LOC101929554', 'score': 0.16}, {'connected_gene': 'GC12P088431', 'score': 0.15}]
chr12 GH12I088350 88350318 88352599 0.2 [{'connected_gene': 'TMTC3', 'score': 4.29}, {'connected_gene': 'GC12P088431', 'score': 0.18}, {'connected_gene': 'LOC101929554', 'score': 0.13}]
chr12 GH12I088418 88417844 88421205 0.8 [{'connected_gene': 'TMTC3', 'score': 5.29}, {'connected_gene': 'GC12P088431', 'score': 0.39}, {'connected_gene': 'LOC101929554', 'score': 0.09}]
chr12 GH12I088241 88241764 88243427 0.89 [{'connected_gene': 'TMTC3', 'score': 10.49}, {'connected_gene': 'LOC101929554', 'score': 0.44}, {'connected_gene': 'GC12P088431', 'score': 0.09}]
chr12 GH12I088246 88246899 88247786 0.68 [{'connected_gene': 'TMTC3', 'score': 9.22}, {'connected_gene': 'LOC101929554', 'score': 0.39}, {'connected_gene': 'GC12P088431', 'score': 0.09}]
chr12 GH12I088432 88432508 88433413 0.93 [{'connected_gene': 'TMTC3', 'score': 5.29}, {'connected_gene': 'ENSG00000199245', 'score': 0.77}, {'connected_gene': 'ENSG00000281333', 'score': 0.11}]
chr12 GH12I088207 88207544 88208788 0.2 [{'connected_gene': 'TMTC3', 'score': 11.24}, {'connected_gene': 'PIR56802', 'score': 0.37}]
chr12 GH12I088206 88206212 88207347 0.46 [{'connected_gene': 'PIR56802', 'score': 0.34}, {'connected_gene': 'TMTC3', 'score': 0.21}]

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