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
ENST00000370598 [[69345258, 69345892], [69347282, 69347454], [69348552, 69349324], [69640450, 69640561], [69646410, 69646572], [69653721, 69653886], [69665915, 69666080], [69666536, 69666701], [69684654, 69684756], [69685125, 69685232], [69703659, 69703854], [69723929, 69723998], [69728282, 69728391], [69758076, 69758226], [69759162, 69759238], [69772825, 69772928], [69785886, 69785930], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70099403]] [[69348567, 69349324], [69640450, 69640561], [69646410, 69646572], [69653721, 69653886], [69665915, 69666080], [69666536, 69666701], [69684654, 69684756], [69685125, 69685232], [69703659, 69703854], [69723929, 69723998], [69728282, 69728391], [69758076, 69758226], [69759162, 69759238], [69772825, 69772928], [69785886, 69785930], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70098783]]
ENST00000238918 [[69942297, 69942521], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70099397]] [[69942423, 69942521], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70098783]]
ENST00000603207 [[69942925, 69943052], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034834]] [[69943020, 69943052], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034834]]
ENST00000604969 [[69942925, 69943308], [69944923, 69945027], [69949015, 69949118]] [[69944926, 69945027], [69949015, 69949118]]
ENST00000546190 [[70041759, 70041848], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70099109]] [[70042820, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70098783]]
NM_001704 [[69345631, 69345892], [69347282, 69347454], [69348552, 69349324], [69640450, 69640561], [69646410, 69646572], [69653721, 69653886], [69665915, 69666080], [69666536, 69666701], [69684654, 69684756], [69685125, 69685232], [69703659, 69703854], [69723929, 69723998], [69728282, 69728391], [69758076, 69758226], [69759162, 69759238], [69772825, 69772928], [69785886, 69785930], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70099403]] [[69348567, 69349324], [69640450, 69640561], [69646410, 69646572], [69653721, 69653886], [69665915, 69666080], [69666536, 69666701], [69684654, 69684756], [69685125, 69685232], [69703659, 69703854], [69723929, 69723998], [69728282, 69728391], [69758076, 69758226], [69759162, 69759238], [69772825, 69772928], [69785886, 69785930], [69943181, 69943308], [69944923, 69945027], [69949015, 69949118], [70034763, 70034914], [70037711, 70037781], [70040397, 70040464], [70042814, 70042900], [70048807, 70048906], [70049224, 70049396], [70064124, 70064220], [70065712, 70065752], [70070760, 70071404], [70082297, 70082333], [70092722, 70092827], [70098594, 70098783]]
Promoter
Chrom Start End Description
chr6 69344939 69344981 CAGE_peak_5_at_BAI3_5end
chr6 69345166 69345259 CAGE_peak_1_at_BAI3_5end
chr6 69345272 69345284 CAGE_peak_3_at_BAI3_5end
chr6 69345285 69345308 CAGE_peak_2_at_BAI3_5end
chr6 69345310 69345317 CAGE_peak_9_at_BAI3_5end
chr6 69345368 69345379 CAGE_peak_7_at_BAI3_5end
chr6 69345807 69345828 CAGE_peak_4_at_BAI3_5end
chr6 69345833 69345845 CAGE_peak_8_at_BAI3_5end
chr6 69345847 69345866 CAGE_peak_6_at_BAI3_5end
chr6 69942384 69942394 CAGE_peak_16_at_BAI3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I068639 68639586 68640800 1.12 [{'connected_gene': 'ADGRB3', 'score': 11.24}, {'connected_gene': 'LOC101928307', 'score': 10.48}, {'connected_gene': 'GC06M068665', 'score': 0.31}]
chr6 GH06I068633 68633759 68636400 2.11 [{'connected_gene': 'ADGRB3', 'score': 567.57}, {'connected_gene': 'LOC101928307', 'score': 563.71}]
chr6 GH06I068761 68761402 68761842 0.75 [{'connected_gene': 'ADGRB3', 'score': 25.11}, {'connected_gene': 'GC06P068946', 'score': 0.34}, {'connected_gene': 'GC06P069165', 'score': 0.05}]
chr6 GH06I068717 68717969 68718961 0.64 [{'connected_gene': 'ADGRB3', 'score': 7.29}, {'connected_gene': 'GC06P068946', 'score': 0.34}, {'connected_gene': 'GC06M068665', 'score': 0.23}]
chr6 GH06I069093 69093490 69093881 0.24 [{'connected_gene': 'ADGRB3', 'score': 3.94}, {'connected_gene': 'GC06P069165', 'score': 0.19}, {'connected_gene': 'GC06P068946', 'score': 0.05}]
chr6 GH06I068847 68847847 68848154 0.22 [{'connected_gene': 'ADGRB3', 'score': 7.55}, {'connected_gene': 'GC06P068946', 'score': 0.14}, {'connected_gene': 'GC06P069165', 'score': 0.06}]
chr6 GH06I068920 68920627 68920937 0.35 [{'connected_gene': 'ADGRB3', 'score': 7.96}, {'connected_gene': 'GC06P068946', 'score': 0.1}, {'connected_gene': 'GC06P069165', 'score': 0.07}]
chr6 GH06I068653 68653659 68655900 0.69 [{'connected_gene': 'ADGRB3', 'score': 6.43}, {'connected_gene': 'GC06M068665', 'score': 0.39}]
chr6 GH06I068642 68642528 68643975 0.31 [{'connected_gene': 'ADGRB3', 'score': 0.44}, {'connected_gene': 'GC06M068665', 'score': 0.34}]
chr6 GH06I068753 68753725 68754046 0.24 [{'connected_gene': 'LOC101928307', 'score': 13.46}, {'connected_gene': 'ADGRB3', 'score': 4.35}, {'connected_gene': 'GC06P068946', 'score': 0.39}, {'connected_gene': 'GC06P069165', 'score': 0.05}]
chr6 GH06I068777 68777700 68778074 0.49 [{'connected_gene': 'LOC101928307', 'score': 8.47}, {'connected_gene': 'ADGRB3', 'score': 2.24}, {'connected_gene': 'GC06P068946', 'score': 0.28}, {'connected_gene': 'GC06P069165', 'score': 0.05}]
chr6 GH06I068655 68655907 68657676 0.62 [{'connected_gene': 'LOC101928307', 'score': 13.2}, {'connected_gene': 'GC06M068665', 'score': 0.44}, {'connected_gene': 'ADGRB3', 'score': 0.34}]
chr6 GH06I068651 68651572 68652430 1 [{'connected_gene': 'LOC101928307', 'score': 5.09}, {'connected_gene': 'GC06M068665', 'score': 0.39}, {'connected_gene': 'ADGRB3', 'score': 0.37}]
chr6 GH06I069389 69389070 69389510 0.4 [{'connected_gene': 'PIR49916', 'score': 0.37}, {'connected_gene': 'GC06P069165', 'score': 0.07}, {'connected_gene': 'ADGRB3', 'score': 0.03}]
chr6 GH06I069215 69215731 69217667 0.51 [{'connected_gene': 'GC06P069165', 'score': 0.23}, {'connected_gene': 'PIR49916', 'score': 0.08}, {'connected_gene': 'ADGRB3', 'score': 0.03}]
chr6 GH06I069219 69219879 69221267 0.31 [{'connected_gene': 'GC06P069165', 'score': 0.23}, {'connected_gene': 'PIR49916', 'score': 0.09}, {'connected_gene': 'ADGRB3', 'score': 0.03}]
chr6 GH06I068967 68967638 68968386 0.89 [{'connected_gene': 'GC06P069165', 'score': 0.08}, {'connected_gene': 'GC06P068946', 'score': 0.07}, {'connected_gene': 'ADGRB3', 'score': 0.06}]
chr6 GH06I069090 69090209 69090358 0.52 [{'connected_gene': 'GC06P069165', 'score': 0.18}, {'connected_gene': 'GC06P068946', 'score': 0.05}, {'connected_gene': 'ADGRB3', 'score': 0.05}]
chr6 GH06I069195 69195520 69195538 0.22 [{'connected_gene': 'GC06P069165', 'score': 0.31}, {'connected_gene': 'PIR49916', 'score': 0.08}, {'connected_gene': 'ADGRB3', 'score': 0.03}]
chr6 GH06I069233 69233009 69233118 0.95 [{'connected_gene': 'GC06P069165', 'score': 0.2}, {'connected_gene': 'PIR49916', 'score': 0.1}, {'connected_gene': 'ADGRB3', 'score': 0.03}]