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
ENST00000393240 [[79257772, 79258115], [79258777, 79258889], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79844059]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
ENST00000261205 [[79258448, 79258889], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845786]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
ENST00000457153 [[79258591, 79258889], [79371578, 79371711], [79611282, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845788]] [[79611299, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
ENST00000552744 [[79439410, 79439606], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79844074]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
ENST00000549559 [[79685578, 79685634], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747322]] [[79685578, 79685634], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747322]]
ENST00000552074 [[79262489, 79262691], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679684]] [[79611299, 79611465], [79679566, 79679684]]
ENST00000549454 [[79262551, 79262691], [79320376, 79320500], [79349241, 79349346], [79371578, 79371711], [79441076, 79441142], [79611282, 79611297]] None
ENST00000547046 [[79357814, 79357930], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679574]] [[79611299, 79611465], [79679566, 79679574]]
ENST00000549671 [[79371301, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679617]] [[79611299, 79611465], [79679566, 79679617]]
ENST00000551304 [[79371564, 79371711], [79389538, 79389627], [79441076, 79441142], [79496793, 79496835], [79611282, 79611465], [79679566, 79679618]] [[79611299, 79611465], [79679566, 79679618]]
ENST00000552624 [[79439484, 79439606], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79689904]] [[79611299, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79689904]]
ENST00000446242 [[79440097, 79440231], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79689919]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79689919]]
NM_001135805 [[79257772, 79258115], [79258777, 79258889], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845788]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
NM_001291901 [[79258448, 79258889], [79371578, 79371711], [79611282, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845788]] [[79611299, 79611465], [79679566, 79679751], [79685796, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
NM_005639 [[79258448, 79258889], [79371578, 79371711], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845788]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
NM_001135806 [[79439432, 79439606], [79441076, 79441142], [79611282, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79845788]] [[79611299, 79611465], [79679566, 79679751], [79685787, 79685910], [79689848, 79690016], [79693163, 79693331], [79747281, 79747399], [79837852, 79837986], [79842697, 79842904]]
Promoter
Chrom Start End Description
chr12 79258444 79258455 CAGE_peak_14_at_SYT1_5end
chr12 79258463 79258477 CAGE_peak_10_at_SYT1_5end
chr12 79258480 79258499 CAGE_peak_3_at_SYT1_5end
chr12 79258547 79258607 CAGE_peak_1_at_SYT1_5end
chr12 79258764 79258773 CAGE_peak_8_at_SYT1_5end
chr12 79258791 79258806 CAGE_peak_4_at_SYT1_5end
chr12 79357890 79357893 CAGE_peak_6_at_SYT1_5end
chr12 79371495 79371508 CAGE_peak_19_at_SYT1_5end
chr12 79371509 79371528 CAGE_peak_9_at_SYT1_5end
chr12 79371576 79371593 CAGE_peak_12_at_SYT1_5end
chr12 79371636 79371672 CAGE_peak_13_at_SYT1_5end
chr12 79439405 79439421 CAGE_peak_7_at_SYT1_5end
chr12 79439444 79439455 CAGE_peak_11_at_SYT1_5end
chr12 79439461 79439490 CAGE_peak_2_at_SYT1_5end
chr12 79611273 79611298 CAGE_peak_15_at_SYT1_5end
chr12 79844368 79844393 CAGE_peak_18_at_SYT1_5end
chr12 79845142 79845155 CAGE_peak_22_at_SYT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I078947 78947520 78947613 0.25 [{'connected_gene': 'SYT1', 'score': 1.71}, {'connected_gene': 'GC12P078940', 'score': 0.44}, {'connected_gene': 'GC12M079013', 'score': 0.18}, {'connected_gene': 'LOC105369863', 'score': 0.15}]
chr12 GH12I078968 78968285 78968650 0.22 [{'connected_gene': 'SYT1', 'score': 1.64}, {'connected_gene': 'GC12P078940', 'score': 0.31}, {'connected_gene': 'GC12M079013', 'score': 0.22}, {'connected_gene': 'LOC105369863', 'score': 0.18}]
chr12 GH12I078963 78963453 78964904 0.51 [{'connected_gene': 'SYT1', 'score': 6.77}, {'connected_gene': 'GC12P078940', 'score': 0.34}, {'connected_gene': 'GC12M079013', 'score': 0.21}, {'connected_gene': 'LOC105369863', 'score': 0.18}]
chr12 GH12I078927 78927869 78929703 0.56 [{'connected_gene': 'SYT1', 'score': 10.79}, {'connected_gene': 'GC12P078940', 'score': 0.39}, {'connected_gene': 'GC12P078889', 'score': 0.28}, {'connected_gene': 'LOC105369863', 'score': 0.13}]
chr12 GH12I078931 78931541 78931853 0.34 [{'connected_gene': 'SYT1', 'score': 1.81}, {'connected_gene': 'GC12P078940', 'score': 0.44}, {'connected_gene': 'GC12P078889', 'score': 0.26}, {'connected_gene': 'LOC105369863', 'score': 0.14}]
chr12 GH12I078930 78930522 78930985 0.33 [{'connected_gene': 'SYT1', 'score': 16.04}, {'connected_gene': 'GC12P078940', 'score': 0.44}, {'connected_gene': 'GC12P078889', 'score': 0.26}, {'connected_gene': 'LOC105369863', 'score': 0.14}]
chr12 GH12I079132 79132543 79133046 0.22 [{'connected_gene': 'SYT1', 'score': 1.53}, {'connected_gene': 'GC12M079107', 'score': 0.31}, {'connected_gene': 'LOC100420794', 'score': 0.09}]
chr12 GH12I079055 79055876 79059377 0.74 [{'connected_gene': 'SYT1', 'score': 7.01}, {'connected_gene': 'GC12M079059', 'score': 0.44}, {'connected_gene': 'GC12P079046', 'score': 0.39}]
chr12 GH12I078863 78863121 78865664 1.73 [{'connected_gene': 'SYT1', 'score': 550.77}, {'connected_gene': 'GC12P078889', 'score': 0.34}]
chr12 GH12I078840 78840921 78841070 0.2 [{'connected_gene': 'SYT1', 'score': 0.34}, {'connected_gene': 'ENSG00000257948', 'score': 0.28}]
chr12 GH12I079407 79407829 79410822 1.14 [{'connected_gene': 'PAWR', 'score': 11.25}, {'connected_gene': 'ENSG00000258044', 'score': 4.27}, {'connected_gene': 'MIR1252', 'score': 0.44}, {'connected_gene': 'ENSG00000257894', 'score': 0.16}, {'connected_gene': 'LOC100420794', 'score': 0.15}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079367 79367301 79367450 0.49 [{'connected_gene': 'PAWR', 'score': 5.73}, {'connected_gene': 'MIR1252', 'score': 0.23}, {'connected_gene': 'LOC100420794', 'score': 0.22}, {'connected_gene': 'ENSG00000257894', 'score': 0.12}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079045 79045647 79045706 0.89 [{'connected_gene': 'LOC105369863', 'score': 550.77}, {'connected_gene': 'GC12P079046', 'score': 550.77}, {'connected_gene': 'SYT1', 'score': 550.09}]
chr12 GH12I079300 79300281 79300470 0.78 [{'connected_gene': 'LOC100420794', 'score': 0.44}, {'connected_gene': 'GC12M079107', 'score': 0.08}, {'connected_gene': 'SYT1', 'score': 0.05}]
chr12 GH12I079277 79277049 79277484 0.22 [{'connected_gene': 'LOC100420794', 'score': 0.29}, {'connected_gene': 'GC12M079107', 'score': 0.1}, {'connected_gene': 'SYT1', 'score': 0.05}]
chr12 GH12I079215 79215163 79215305 0.33 [{'connected_gene': 'LOC100420794', 'score': 0.16}, {'connected_gene': 'GC12M079107', 'score': 0.14}, {'connected_gene': 'SYT1', 'score': 0.05}]
chr12 GH12I079344 79344981 79345130 0.6 [{'connected_gene': 'LOC100420794', 'score': 0.28}, {'connected_gene': 'MIR1252', 'score': 0.19}, {'connected_gene': 'ENSG00000257894', 'score': 0.1}, {'connected_gene': 'SYT1', 'score': 0.04}]
chr12 GH12I079345 79345453 79346790 0.38 [{'connected_gene': 'LOC100420794', 'score': 0.28}, {'connected_gene': 'MIR1252', 'score': 0.19}, {'connected_gene': 'ENSG00000257894', 'score': 0.1}, {'connected_gene': 'SYT1', 'score': 0.04}]
chr12 GH12I079444 79444034 79444927 0.49 [{'connected_gene': 'MIR1252', 'score': 0.31}, {'connected_gene': 'GC12P079487', 'score': 0.26}, {'connected_gene': 'ENSG00000257894', 'score': 0.22}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079449 79449322 79449580 0.4 [{'connected_gene': 'MIR1252', 'score': 0.29}, {'connected_gene': 'GC12P079487', 'score': 0.28}, {'connected_gene': 'ENSG00000257894', 'score': 0.23}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079415 79415252 79416855 0.91 [{'connected_gene': 'MIR1252', 'score': 0.77}, {'connected_gene': 'ENSG00000257894', 'score': 0.17}, {'connected_gene': 'LOC100420794', 'score': 0.14}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079382 79382141 79382180 0.2 [{'connected_gene': 'MIR1252', 'score': 0.28}, {'connected_gene': 'LOC100420794', 'score': 0.19}, {'connected_gene': 'ENSG00000257894', 'score': 0.13}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I078916 78916941 78917130 0.38 [{'connected_gene': 'GC12P078940', 'score': 0.34}, {'connected_gene': 'GC12P078889', 'score': 0.31}, {'connected_gene': 'SYT1', 'score': 0.23}, {'connected_gene': 'LOC105369863', 'score': 0.13}]
chr12 GH12I078914 78914621 78915552 0.49 [{'connected_gene': 'GC12P078889', 'score': 0.31}, {'connected_gene': 'GC12P078940', 'score': 0.31}, {'connected_gene': 'SYT1', 'score': 0.23}, {'connected_gene': 'LOC105369863', 'score': 0.12}]
chr12 GH12I078917 78917159 78917789 0.43 [{'connected_gene': 'GC12P078940', 'score': 0.34}, {'connected_gene': 'GC12P078889', 'score': 0.31}, {'connected_gene': 'SYT1', 'score': 0.23}, {'connected_gene': 'LOC105369863', 'score': 0.13}]
chr12 GH12I079418 79418998 79426981 1.38 [{'connected_gene': 'ENSG00000258044', 'score': 8.03}, {'connected_gene': 'ENSG00000257894', 'score': 7.6}, {'connected_gene': 'SYT1', 'score': 4.12}, {'connected_gene': 'MIR1252', 'score': 0.77}, {'connected_gene': 'GC12P079487', 'score': 0.21}]
chr12 GH12I078885 78885428 78889206 1.13 [{'connected_gene': 'GC12P078889', 'score': 550.77}, {'connected_gene': 'SYT1', 'score': 11.21}]
chr12 GH12I079069 79069001 79069318 0.74 [{'connected_gene': 'GC12M079059', 'score': 0.77}, {'connected_gene': 'GC12M079107', 'score': 0.28}, {'connected_gene': 'SYT1', 'score': 0.08}]
chr12 GH12I078878 78878659 78880830 0.46 [{'connected_gene': 'GC12P078889', 'score': 0.44}, {'connected_gene': 'SYT1', 'score': 0.37}]
chr12 GH12I079005 79005743 79006970 0.52 [{'connected_gene': 'GC12M079013', 'score': 0.37}, {'connected_gene': 'LOC105369863', 'score': 0.28}, {'connected_gene': 'GC12P078940', 'score': 0.2}, {'connected_gene': 'SYT1', 'score': 0.11}]
chr12 GH12I078977 78977801 78978000 0.2 [{'connected_gene': 'GC12P078940', 'score': 0.28}, {'connected_gene': 'GC12M079013', 'score': 0.25}, {'connected_gene': 'LOC105369863', 'score': 0.2}, {'connected_gene': 'SYT1', 'score': 0.14}]
chr12 GH12I079126 79126864 79128494 0.46 [{'connected_gene': 'GC12M079107', 'score': 0.37}, {'connected_gene': 'LOC100420794', 'score': 0.09}, {'connected_gene': 'SYT1', 'score': 0.07}]
chr12 GH12I079119 79119921 79120076 0.38 [{'connected_gene': 'GC12M079107', 'score': 0.39}, {'connected_gene': 'LOC100420794', 'score': 0.09}, {'connected_gene': 'SYT1', 'score': 0.07}]
chr12 GH12I079172 79172965 79173361 0.23 [{'connected_gene': 'GC12M079107', 'score': 0.2}, {'connected_gene': 'LOC100420794', 'score': 0.12}, {'connected_gene': 'SYT1', 'score': 0.06}]
chr12 GH12I079183 79183298 79184598 0.43 [{'connected_gene': 'GC12M079107', 'score': 0.18}, {'connected_gene': 'LOC100420794', 'score': 0.13}, {'connected_gene': 'SYT1', 'score': 0.06}]
chr12 GH12I079451 79451180 79456048 1.2 [{'connected_gene': 'ENSG00000257894', 'score': 6.23}, {'connected_gene': 'MIR1252', 'score': 0.29}, {'connected_gene': 'GC12P079487', 'score': 0.29}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079414 79414031 79415033 0.56 [{'connected_gene': 'ENSG00000258044', 'score': 6.6}, {'connected_gene': 'MIR1252', 'score': 0.77}, {'connected_gene': 'ENSG00000257894', 'score': 0.17}, {'connected_gene': 'LOC100420794', 'score': 0.14}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079365 79365830 79366180 0.25 [{'connected_gene': 'ENSG00000257894', 'score': 4.26}, {'connected_gene': 'MIR1252', 'score': 0.23}, {'connected_gene': 'LOC100420794', 'score': 0.22}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12 GH12I079381 79381381 79381530 0.31 [{'connected_gene': 'ENSG00000257894', 'score': 7.44}, {'connected_gene': 'MIR1252', 'score': 0.28}, {'connected_gene': 'LOC100420794', 'score': 0.19}, {'connected_gene': 'SYT1', 'score': 0.03}]

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