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
ENST00000340366 [[159590428, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159693137]] [[159590628, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159692474]]
ENST00000297267 [[159590428, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159650846, 159651035], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159693141]] [[159590628, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159650846, 159651035], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159692474]]
ENST00000329629 [[159618478, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159693137]] [[159618478, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159692474]]
ENST00000480856 [[159639328, 159639630], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647586]] None
NM_032532 [[159590428, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159650846, 159651035], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159693140]] [[159590628, 159590737], [159618462, 159618657], [159621027, 159621114], [159621544, 159621613], [159635976, 159636183], [159642629, 159642728], [159644559, 159644677], [159646566, 159646754], [159647504, 159647612], [159650846, 159651035], [159652913, 159655511], [159657246, 159657347], [159659585, 159659697], [159660548, 159660989], [159667932, 159668001], [159670070, 159670214], [159672333, 159672564], [159677554, 159677663], [159682221, 159682301], [159686006, 159686036], [159687115, 159687277], [159688835, 159688958], [159692358, 159692474]]
Promoter
Chrom Start End Description
chr6 159590423 159590438 CAGE_peak_1_at_FNDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I159529 159529068 159530983 0.2 [{'connected_gene': 'FNDC1', 'score': 5.24}, {'connected_gene': 'RPL21P69', 'score': 0.77}, {'connected_gene': 'GC06P159539', 'score': 0.44}]
chr6 GH06I159446 159446060 159446801 0.4 [{'connected_gene': 'FNDC1', 'score': 7.08}, {'connected_gene': 'LOC101929142', 'score': 0.37}, {'connected_gene': 'PIR47548', 'score': 0.34}]
chr6 GH06I159456 159456008 159457058 0.58 [{'connected_gene': 'FNDC1', 'score': 11.43}, {'connected_gene': 'LOC101929142', 'score': 0.44}, {'connected_gene': 'PIR47548', 'score': 0.29}]
chr6 GH06I159450 159450453 159452213 0.31 [{'connected_gene': 'FNDC1', 'score': 10.05}, {'connected_gene': 'LOC101929122', 'score': 7.68}, {'connected_gene': 'LOC101929142', 'score': 0.39}, {'connected_gene': 'PIR47548', 'score': 0.31}]
chr6 GH06I159183 159183671 159185858 0.2 [{'connected_gene': 'FNDC1', 'score': 10.61}, {'connected_gene': 'LOC101929122', 'score': 0.39}, {'connected_gene': 'FNDC1-IT1', 'score': 0.22}]
chr6 GH06I159202 159202996 159204511 0.2 [{'connected_gene': 'FNDC1', 'score': 35.97}, {'connected_gene': 'LOC101929122', 'score': 11.64}, {'connected_gene': 'FNDC1-IT1', 'score': 0.28}]
chr6 GH06I159169 159169200 159172297 2.01 [{'connected_gene': 'FNDC1', 'score': 555.83}, {'connected_gene': 'LOC101929122', 'score': 550.77}, {'connected_gene': 'FNDC1-IT1', 'score': 0.19}]
chr6 GH06I159248 159248877 159250552 0.2 [{'connected_gene': 'FNDC1', 'score': 13.56}, {'connected_gene': 'FNDC1-IT1', 'score': 0.44}, {'connected_gene': 'ENSG00000231178', 'score': 0.15}]
chr6 GH06I159252 159252629 159253741 0.91 [{'connected_gene': 'FNDC1', 'score': 8.45}, {'connected_gene': 'FNDC1-IT1', 'score': 0.39}, {'connected_gene': 'ENSG00000231178', 'score': 0.15}]
chr6 GH06I159282 159282076 159282868 0.2 [{'connected_gene': 'FNDC1', 'score': 11.76}, {'connected_gene': 'FNDC1-IT1', 'score': 0.26}, {'connected_gene': 'ENSG00000231178', 'score': 0.19}]
chr6 GH06I159153 159152330 159153558 0.49 [{'connected_gene': 'FNDC1', 'score': 4.67}, {'connected_gene': 'ENSG00000224478', 'score': 0.25}]
chr6 GH06I159125 159125456 159127798 0.89 [{'connected_gene': 'FNDC1', 'score': 5.69}, {'connected_gene': 'ENSG00000224478', 'score': 0.37}]
chr6 GH06I159152 159152109 159152258 0.43 [{'connected_gene': 'FNDC1', 'score': 0.37}, {'connected_gene': 'ENSG00000224478', 'score': 0.26}]
chr6 GH06I159151 159151389 159151538 0.52 [{'connected_gene': 'FNDC1', 'score': 0.37}, {'connected_gene': 'ENSG00000224478', 'score': 0.26}]
chr6 GH06I159122 159122721 159123976 0.38 [{'connected_gene': 'FNDC1', 'score': 5.3}, {'connected_gene': 'ENSG00000224478', 'score': 0.37}]
chr6 GH06I159163 159163618 159164707 0.52 [{'connected_gene': 'FNDC1', 'score': 4.89}, {'connected_gene': 'ENSG00000224478', 'score': 0.22}]
chr6 GH06I159174 159174369 159174538 0.69 [{'connected_gene': 'MRPL18', 'score': 4.61}, {'connected_gene': 'LOC101929122', 'score': 0.77}, {'connected_gene': 'FNDC1', 'score': 0.44}, {'connected_gene': 'FNDC1-IT1', 'score': 0.2}]
chr6 GH06I159113 159113741 159120600 1.42 [{'connected_gene': 'TAGAP', 'score': 10.49}, {'connected_gene': 'ENSG00000224478', 'score': 0.44}, {'connected_gene': 'FNDC1', 'score': 0.23}]
chr6 GH06I159463 159463895 159465564 0.51 [{'connected_gene': 'LOC101929142', 'score': 550.77}, {'connected_gene': 'GC06P159466', 'score': 550.77}, {'connected_gene': 'LOC101929122', 'score': 13.14}, {'connected_gene': 'FNDC1', 'score': 12.92}]
chr6 GH06I159217 159217629 159217778 0.57 [{'connected_gene': 'FNDC1-IT1', 'score': 0.34}, {'connected_gene': 'FNDC1', 'score': 0.25}, {'connected_gene': 'LOC101929122', 'score': 0.25}]
chr6 GH06I159121 159121201 159122000 0.4 [{'connected_gene': 'ENSG00000224478', 'score': 0.39}, {'connected_gene': 'FNDC1', 'score': 0.25}]
chr6 GH06I159134 159134829 159134998 0.89 [{'connected_gene': 'ENSG00000224478', 'score': 0.31}, {'connected_gene': 'FNDC1', 'score': 0.29}]
chr6 GH06I159110 159110729 159111335 0.51 [{'connected_gene': 'ENSG00000224478', 'score': 0.77}, {'connected_gene': 'FNDC1', 'score': 0.22}]
chr6 GH06I159135 159135109 159135258 0.79 [{'connected_gene': 'ENSG00000224478', 'score': 0.31}, {'connected_gene': 'FNDC1', 'score': 0.29}]

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