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
ENST00000446378 [[78985699, 78985879], [79024737, 79035226], [79039649, 79039745], [79041044, 79041278], [79042913, 79042936], [79048498, 79048617], [79054575, 79054725], [79057633, 79057780], [79058884, 79059032], [79084793, 79084927], [79086792, 79086892], [79089259, 79089433], [79095192, 79096045]] [[78985730, 78985879], [79024737, 79035226], [79039649, 79039745], [79041044, 79041278], [79042913, 79042936], [79048498, 79048617], [79054575, 79054725], [79057633, 79057780], [79058884, 79059032], [79084793, 79084927], [79086792, 79086892], [79089259, 79089433], [79095192, 79095439]]
ENST00000506603 [[79033964, 79035226], [79039649, 79039745], [79041044, 79041278], [79042913, 79042936], [79048498, 79048617], [79054575, 79054725], [79057633, 79059032], [79084793, 79084927], [79086792, 79086892], [79089259, 79089433], [79095192, 79096063]] None
ENST00000505466 [[79054575, 79054725], [79057633, 79057780], [79058884, 79059242]] None
NM_153610 [[78985658, 78985879], [79024737, 79035226], [79039649, 79039745], [79041044, 79041278], [79042913, 79042936], [79048498, 79048617], [79054575, 79054725], [79057633, 79057780], [79058884, 79059032], [79084793, 79084927], [79086792, 79086892], [79089259, 79089433], [79095192, 79096049]] [[78985730, 78985879], [79024737, 79035226], [79039649, 79039745], [79041044, 79041278], [79042913, 79042936], [79048498, 79048617], [79054575, 79054725], [79057633, 79057780], [79058884, 79059032], [79084793, 79084927], [79086792, 79086892], [79089259, 79089433], [79095192, 79095439]]
Promoter
Chrom Start End Description
chr5 78985593 78985604 CAGE_peak_2_at_CMYA5_5end
chr5 78985648 78985669 CAGE_peak_1_at_CMYA5_5end
chr5 78985673 78985680 CAGE_peak_3_at_CMYA5_5end
chr5 79028810 79028818 CAGE_peak_50_at_CMYA5_5end
chr5 79029312 79029328 CAGE_peak_9_at_CMYA5_5end
chr5 79030927 79030935 CAGE_peak_49_at_CMYA5_5end
chr5 79030939 79030949 CAGE_peak_11_at_CMYA5_5end
chr5 79032964 79032974 CAGE_peak_19_at_CMYA5_5end
chr5 79033206 79033217 CAGE_peak_15_at_CMYA5_5end
chr5 79033347 79033381 CAGE_peak_5_at_CMYA5_5end
chr5 79033461 79033496 CAGE_peak_4_at_CMYA5_5end
chr5 79033526 79033538 CAGE_peak_7_at_CMYA5_5end
chr5 79033539 79033560 CAGE_peak_8_at_CMYA5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I079701 79701829 79703290 0.89 [{'connected_gene': 'THBS4', 'score': 10.09}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.92}, {'connected_gene': 'CMYA5', 'score': 0.39}, {'connected_gene': 'GC05M079729', 'score': 0.29}]
chr5 GH05I079708 79706438 79706587 0.49 [{'connected_gene': 'THBS4', 'score': 10.09}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.92}, {'connected_gene': 'CMYA5', 'score': 0.37}, {'connected_gene': 'GC05M079729', 'score': 0.31}]
chr5 GH05I079705 79705383 79706182 0.2 [{'connected_gene': 'THBS4', 'score': 10.09}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.92}, {'connected_gene': 'CMYA5', 'score': 0.37}, {'connected_gene': 'GC05M079729', 'score': 0.31}]
chr5 GH05I080109 80109694 80112159 0.67 [{'connected_gene': 'SERINC5', 'score': 10.92}, {'connected_gene': 'CMYA5', 'score': 5.97}, {'connected_gene': 'GC05P080097', 'score': 0.39}, {'connected_gene': 'ENSG00000251675', 'score': 0.37}]
chr5 GH05I079694 79694726 79694967 1.03 [{'connected_gene': 'CMYA5', 'score': 14.29}, {'connected_gene': 'THBS4', 'score': 1.97}, {'connected_gene': 'GC05M079729', 'score': 0.28}]
chr5 GH05I079696 79696705 79698632 1.43 [{'connected_gene': 'CMYA5', 'score': 16.72}, {'connected_gene': 'THBS4', 'score': 1.58}, {'connected_gene': 'GC05M079729', 'score': 0.28}]
chr5 GH05I079685 79685998 79686147 0.43 [{'connected_gene': 'CMYA5', 'score': 0.77}, {'connected_gene': 'GC05M079620', 'score': 0.21}, {'connected_gene': 'PAPD4', 'score': 0.19}]
chr5 GH05I079759 79759558 79759707 0.58 [{'connected_gene': 'CMYA5', 'score': 10.75}, {'connected_gene': 'ENSG00000250258', 'score': 10.46}, {'connected_gene': 'GC05P079745', 'score': 0.39}, {'connected_gene': 'LOC102724557', 'score': 0.26}]
chr5 GH05I079754 79754115 79756079 0.81 [{'connected_gene': 'CMYA5', 'score': 10.75}, {'connected_gene': 'ENSG00000250258', 'score': 10.44}, {'connected_gene': 'GC05P079745', 'score': 0.44}, {'connected_gene': 'LOC102724557', 'score': 0.25}]
chr5 GH05I079727 79727067 79728815 0.31 [{'connected_gene': 'CMYA5', 'score': 10.84}, {'connected_gene': 'ENSG00000250258', 'score': 10.51}, {'connected_gene': 'GC05M079729', 'score': 0.44}]
chr5 GH05I079688 79688952 79691861 1.85 [{'connected_gene': 'CMYA5', 'score': 557.85}, {'connected_gene': 'GC05M079729', 'score': 0.26}]
chr5 GH05I079713 79713515 79714192 0.2 [{'connected_gene': 'CMYA5', 'score': 12.41}, {'connected_gene': 'GC05M079729', 'score': 0.37}]
chr5 GH05I079711 79711066 79711650 0.2 [{'connected_gene': 'CMYA5', 'score': 12.41}, {'connected_gene': 'GC05M079729', 'score': 0.34}]
chr5 GH05I079695 79695517 79696539 0.4 [{'connected_gene': 'CMYA5', 'score': 0.44}, {'connected_gene': 'GC05M079729', 'score': 0.28}]
chr5 GH05I079712 79711801 79712409 0.2 [{'connected_gene': 'CMYA5', 'score': 12.41}, {'connected_gene': 'GC05M079729', 'score': 0.34}]
chr5 GH05I079546 79546840 79548676 1.17 [{'connected_gene': 'LOC105379047', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 5.52}, {'connected_gene': 'PAPD4', 'score': 5.43}, {'connected_gene': 'CMYA5', 'score': 2.64}, {'connected_gene': 'ENSG00000277818', 'score': 0.37}]
chr5 GH05I079801 79801001 79801400 0.72 [{'connected_gene': 'LOC102724557', 'score': 550.77}, {'connected_gene': 'ENSG00000250258', 'score': 18.58}, {'connected_gene': 'MTX3', 'score': 16.54}, {'connected_gene': 'PAPD4', 'score': 12.63}, {'connected_gene': 'RPS3AP20', 'score': 12.42}, {'connected_gene': 'JMY', 'score': 10.79}, {'connected_gene': 'CMYA5', 'score': 10.21}, {'connected_gene': 'GC05P079745', 'score': 0.22}]
chr5 GH05I079790 79790502 79791308 0.2 [{'connected_gene': 'LOC102724557', 'score': 0.39}, {'connected_gene': 'ENSG00000250258', 'score': 0.31}, {'connected_gene': 'GC05P079745', 'score': 0.25}, {'connected_gene': 'CMYA5', 'score': 0.15}]
chr5 GH05I079785 79785828 79786476 0.46 [{'connected_gene': 'LOC102724557', 'score': 0.37}, {'connected_gene': 'ENSG00000250258', 'score': 0.29}, {'connected_gene': 'GC05P079745', 'score': 0.26}, {'connected_gene': 'CMYA5', 'score': 0.15}]
chr5 GH05I079786 79786883 79787999 0.46 [{'connected_gene': 'LOC102724557', 'score': 0.39}, {'connected_gene': 'ENSG00000250258', 'score': 0.31}, {'connected_gene': 'GC05P079745', 'score': 0.26}, {'connected_gene': 'CMYA5', 'score': 0.15}]
chr5 GH05I079562 79562518 79562647 0.46 [{'connected_gene': 'ENSG00000277818', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 10.58}, {'connected_gene': 'CMYA5', 'score': 10.09}, {'connected_gene': 'ENSG00000250258', 'score': 9.81}, {'connected_gene': 'THBS4', 'score': 9.25}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.23}, {'connected_gene': 'LOC105379047', 'score': 0.37}]
chr5 GH05I079706 79706737 79707445 0.31 [{'connected_gene': 'ENSG00000250258', 'score': 10.55}, {'connected_gene': 'THBS4', 'score': 10.09}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.92}, {'connected_gene': 'CMYA5', 'score': 0.37}, {'connected_gene': 'GC05M079729', 'score': 0.31}]
chr5 GH05I079707 79707595 79708485 0.38 [{'connected_gene': 'ENSG00000250258', 'score': 10.55}, {'connected_gene': 'THBS4', 'score': 9.72}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.71}, {'connected_gene': 'CMYA5', 'score': 0.37}, {'connected_gene': 'GC05M079729', 'score': 0.31}]
chr5 GH05I079560 79560749 79561954 1.15 [{'connected_gene': 'ENSG00000277818', 'score': 550.77}, {'connected_gene': 'CMYA5', 'score': 14.85}, {'connected_gene': 'HOMER1', 'score': 10.6}, {'connected_gene': 'ENSG00000250258', 'score': 9.81}, {'connected_gene': 'THBS4', 'score': 9.46}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.45}, {'connected_gene': 'PAPD4', 'score': 4.18}, {'connected_gene': 'LOC105379047', 'score': 0.39}]
chr5 GH05I079746 79746631 79747356 0.2 [{'connected_gene': 'GC05P079745', 'score': 550.77}, {'connected_gene': 'CMYA5', 'score': 10.41}, {'connected_gene': 'LOC102724557', 'score': 0.23}]
chr5 GH05I079750 79750797 79752089 0.59 [{'connected_gene': 'ENSG00000250258', 'score': 10.33}, {'connected_gene': 'CMYA5', 'score': 10.21}, {'connected_gene': 'GC05P079745', 'score': 0.44}, {'connected_gene': 'LOC102724557', 'score': 0.25}]
chr5 GH05I079740 79740552 79741626 0.2 [{'connected_gene': 'GC05P079745', 'score': 0.77}, {'connected_gene': 'GC05M079729', 'score': 0.44}, {'connected_gene': 'CMYA5', 'score': 0.23}]
chr5 GH05I079726 79726235 79727027 0.2 [{'connected_gene': 'ENSG00000250258', 'score': 11.21}, {'connected_gene': 'CMYA5', 'score': 10.96}, {'connected_gene': 'GC05M079729', 'score': 0.44}]
chr5 GH05I079743 79743756 79746536 0.31 [{'connected_gene': 'GC05P079745', 'score': 550.77}, {'connected_gene': 'ENSG00000250258', 'score': 10.84}, {'connected_gene': 'CMYA5', 'score': 10.41}, {'connected_gene': 'GC05M079729', 'score': 0.39}]
chr5 GH05I079728 79728894 79735609 0.2 [{'connected_gene': 'GC05M079729', 'score': 550.77}, {'connected_gene': 'CMYA5', 'score': 10.83}, {'connected_gene': 'ENSG00000250258', 'score': 10.52}]
chr5 GH05I079737 79737001 79737200 0.4 [{'connected_gene': 'GC05M079729', 'score': 0.77}, {'connected_gene': 'GC05P079745', 'score': 0.44}, {'connected_gene': 'CMYA5', 'score': 0.25}]
chr5 GH05I079742 79742106 79743592 0.79 [{'connected_gene': 'GC05P079745', 'score': 0.77}, {'connected_gene': 'GC05M079729', 'score': 0.44}, {'connected_gene': 'CMYA5', 'score': 0.23}]
chr5 GH05I079621 79621198 79621347 0.38 [{'connected_gene': 'GC05M079620', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 0.44}, {'connected_gene': 'CMYA5', 'score': 0.2}]
chr5 GH05I079770 79770963 79771895 0.96 [{'connected_gene': 'ENSG00000250258', 'score': 11.54}, {'connected_gene': 'GC05P079745', 'score': 0.31}, {'connected_gene': 'LOC102724557', 'score': 0.31}, {'connected_gene': 'CMYA5', 'score': 0.18}]
chr5 GH05I079774 79774618 79774767 0.76 [{'connected_gene': 'ENSG00000250258', 'score': 11.36}, {'connected_gene': 'GC05P079745', 'score': 0.31}, {'connected_gene': 'LOC102724557', 'score': 0.31}, {'connected_gene': 'CMYA5', 'score': 0.18}]
chr5 GH05I079795 79795110 79796479 0.6 [{'connected_gene': 'ENSG00000250258', 'score': 17.87}, {'connected_gene': 'LOC102724557', 'score': 0.44}, {'connected_gene': 'GC05P079745', 'score': 0.23}, {'connected_gene': 'CMYA5', 'score': 0.14}]
chr5 GH05I079793 79793059 79794297 0.38 [{'connected_gene': 'ENSG00000250258', 'score': 12.99}, {'connected_gene': 'LOC102724557', 'score': 0.44}, {'connected_gene': 'GC05P079745', 'score': 0.25}, {'connected_gene': 'CMYA5', 'score': 0.15}]
chr5 GH05I079791 79791680 79792586 0.43 [{'connected_gene': 'ENSG00000250258', 'score': 15.35}, {'connected_gene': 'LOC102724557', 'score': 0.44}, {'connected_gene': 'GC05P079745', 'score': 0.25}, {'connected_gene': 'CMYA5', 'score': 0.15}]