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
ENST00000367435 [[193091146, 193091461], [193094241, 193094347], [193099303, 193099373], [193104520, 193104583], [193104666, 193104719], [193107214, 193107303], [193110979, 193111196], [193116996, 193117095], [193119433, 193119512], [193121509, 193121574], [193172924, 193172982], [193181194, 193181230], [193181519, 193181607], [193202122, 193202284], [193205385, 193205486], [193218859, 193219001], [193219805, 193223031]] [[193091330, 193091461], [193094241, 193094347], [193099303, 193099373], [193104520, 193104583], [193104666, 193104719], [193107214, 193107303], [193110979, 193111196], [193116996, 193117095], [193119433, 193119512], [193121509, 193121574], [193172924, 193172982], [193181194, 193181230], [193181519, 193181607], [193202122, 193202284], [193205385, 193205486], [193218859, 193219001], [193219805, 193219842]]
ENST00000482484 [[193091599, 193091691], [193094241, 193094347], [193096977, 193097268], [193099303, 193099373], [193104520, 193104583], [193104666, 193104719], [193107214, 193107303]] None
ENST00000477868 [[193202155, 193202284], [193218859, 193219001], [193219805, 193220298]] None
NM_024529 [[193091087, 193091461], [193094241, 193094347], [193099303, 193099373], [193104520, 193104583], [193104666, 193104719], [193107214, 193107303], [193110979, 193111196], [193116996, 193117095], [193119433, 193119512], [193121509, 193121574], [193172924, 193172982], [193181194, 193181230], [193181519, 193181607], [193202122, 193202284], [193205385, 193205486], [193218859, 193219001], [193219805, 193223945]] [[193091330, 193091461], [193094241, 193094347], [193099303, 193099373], [193104520, 193104583], [193104666, 193104719], [193107214, 193107303], [193110979, 193111196], [193116996, 193117095], [193119433, 193119512], [193121509, 193121574], [193172924, 193172982], [193181194, 193181230], [193181519, 193181607], [193202122, 193202284], [193205385, 193205486], [193218859, 193219001], [193219805, 193219842]]
Promoter
Chrom Start End Description
chr1 193090923 193090934 CAGE_peak_8_at_CDC73_5end
chr1 193090961 193090970 CAGE_peak_6_at_CDC73_5end
chr1 193091080 193091222 CAGE_peak_1_at_CDC73_5end
chr1 193091236 193091275 CAGE_peak_2_at_CDC73_5end
chr1 193091281 193091306 CAGE_peak_3_at_CDC73_5end
chr1 193091590 193091600 CAGE_peak_5_at_CDC73_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I193109 193109897 193116680 1.22 [{'connected_gene': 'B3GALT2', 'score': 9.59}, {'connected_gene': 'CDC73', 'score': 0.44}, {'connected_gene': 'GLRX2', 'score': 0.44}]
chr1 GH01I193183 193183131 193190482 1.97 [{'connected_gene': 'B3GALT2', 'score': 560.54}, {'connected_gene': 'CDC73', 'score': 10.72}, {'connected_gene': 'MIR1278', 'score': 10.57}, {'connected_gene': 'UCHL5', 'score': 4.22}, {'connected_gene': 'ENSG00000276735', 'score': 0.23}]
chr1 GH01I193210 193210097 193213078 1.05 [{'connected_gene': 'B3GALT2', 'score': 0.34}, {'connected_gene': 'ENSG00000276735', 'score': 0.31}, {'connected_gene': 'CDC73', 'score': 0.17}]
chr1 GH01I193120 193120570 193124089 2.36 [{'connected_gene': 'CDC73', 'score': 550.77}, {'connected_gene': 'B3GALT2', 'score': 9.54}, {'connected_gene': 'LOC101929160', 'score': 0.44}]
chr1 GH01I193069 193069848 193071628 0.98 [{'connected_gene': 'CDC73', 'score': 11.58}, {'connected_gene': 'GLRX2', 'score': 11.47}, {'connected_gene': 'MIR1278', 'score': 10.4}, {'connected_gene': 'UCHL5', 'score': 0.39}, {'connected_gene': 'TROVE2', 'score': 0.39}, {'connected_gene': 'ENSG00000272579', 'score': 0.34}]
chr1 GH01I193067 193067425 193068913 0.82 [{'connected_gene': 'CDC73', 'score': 11.19}, {'connected_gene': 'MIR1278', 'score': 10.59}, {'connected_gene': 'B3GALT2', 'score': 7.31}, {'connected_gene': 'UCHL5', 'score': 5.24}, {'connected_gene': 'TROVE2', 'score': 0.44}, {'connected_gene': 'ENSG00000272579', 'score': 0.34}]
chr1 GH01I192984 192984173 192984484 0.5 [{'connected_gene': 'RGS2', 'score': 24.56}, {'connected_gene': 'CDC73', 'score': 7.98}, {'connected_gene': 'TROVE2', 'score': 1.85}, {'connected_gene': 'ZNF101P2', 'score': 0.39}, {'connected_gene': 'GC01P192950', 'score': 0.29}]
chr1 GH01I192813 192813903 192813960 0.22 [{'connected_gene': 'RGS2', 'score': 23.96}, {'connected_gene': 'CDC73', 'score': 6.86}, {'connected_gene': 'TROVE2', 'score': 1.68}, {'connected_gene': 'LOC105371668', 'score': 0.37}]
chr1 GH01I192814 192814833 192815189 0.46 [{'connected_gene': 'RGS2', 'score': 22.88}, {'connected_gene': 'CDC73', 'score': 6.92}, {'connected_gene': 'TROVE2', 'score': 1.59}, {'connected_gene': 'LOC105371668', 'score': 0.37}]
chr1 GH01I192805 192805951 192811795 2.52 [{'connected_gene': 'RGS2', 'score': 567.86}, {'connected_gene': 'ENSG00000231767', 'score': 10.08}, {'connected_gene': 'CDC73', 'score': 8.09}, {'connected_gene': 'RGS1', 'score': 5.3}, {'connected_gene': 'TROVE2', 'score': 2.28}, {'connected_gene': 'LOC100130137', 'score': 0.44}]
chr1 GH01I192877 192877401 192879687 0.98 [{'connected_gene': 'RGS2', 'score': 37.34}, {'connected_gene': 'RGS1', 'score': 10.11}, {'connected_gene': 'CDC73', 'score': 8.13}, {'connected_gene': 'TROVE2', 'score': 1.71}, {'connected_gene': 'RN7SKP126', 'score': 0.77}, {'connected_gene': 'GC01P192837', 'score': 0.26}, {'connected_gene': 'LINC01032', 'score': 0.2}]
chr1 GH01I192906 192906305 192909055 0.83 [{'connected_gene': 'RGS2', 'score': 17.76}, {'connected_gene': 'RGS1', 'score': 10.07}, {'connected_gene': 'CDC73', 'score': 5.02}, {'connected_gene': 'TROVE2', 'score': 2.31}, {'connected_gene': 'RN7SKP126', 'score': 0.29}, {'connected_gene': 'LINC01032', 'score': 0.26}, {'connected_gene': 'GC01P192837', 'score': 0.2}]
chr1 GH01I192945 192945507 192945642 0.28 [{'connected_gene': 'RGS1', 'score': 8.74}, {'connected_gene': 'CDC73', 'score': 3.55}, {'connected_gene': 'RGS2', 'score': 3.27}, {'connected_gene': 'TROVE2', 'score': 2.15}, {'connected_gene': 'LINC01032', 'score': 0.77}, {'connected_gene': 'RN7SKP126', 'score': 0.2}]
chr1 GH01I192580 192580483 192580765 1.21 [{'connected_gene': 'RGS1', 'score': 14.64}, {'connected_gene': 'LOC647150', 'score': 13.07}, {'connected_gene': 'TROVE2', 'score': 11.17}, {'connected_gene': 'CDC73', 'score': 10.03}, {'connected_gene': 'RGS2', 'score': 1.28}, {'connected_gene': 'GC01P192596', 'score': 0.37}, {'connected_gene': 'LOC105371664', 'score': 0.25}]
chr1 GH01I192902 192902845 192906224 1.01 [{'connected_gene': 'RGS1', 'score': 12.3}, {'connected_gene': 'RGS2', 'score': 12.24}, {'connected_gene': 'CDC73', 'score': 1.55}, {'connected_gene': 'TROVE2', 'score': 1.25}, {'connected_gene': 'RN7SKP126', 'score': 0.31}, {'connected_gene': 'LINC01032', 'score': 0.26}, {'connected_gene': 'GC01P192837', 'score': 0.2}]
chr1 GH01I192788 192788154 192788600 0.96 [{'connected_gene': 'RGS1', 'score': 8.01}, {'connected_gene': 'RGS2', 'score': 6.04}, {'connected_gene': 'CDC73', 'score': 1.66}, {'connected_gene': 'TROVE2', 'score': 1.65}, {'connected_gene': 'LOC105371665', 'score': 0.77}, {'connected_gene': 'MIR4426', 'score': 0.19}]
chr1 GH01I192789 192789966 192790181 0.48 [{'connected_gene': 'RGS1', 'score': 8.48}, {'connected_gene': 'RGS2', 'score': 1.61}, {'connected_gene': 'CDC73', 'score': 1.33}, {'connected_gene': 'TROVE2', 'score': 1.17}, {'connected_gene': 'LOC105371665', 'score': 0.77}, {'connected_gene': 'MIR4426', 'score': 0.19}]
chr1 GH01I193229 193229291 193229440 0.2 [{'connected_gene': 'ENSG00000276735', 'score': 0.44}, {'connected_gene': 'B3GALT2', 'score': 0.26}, {'connected_gene': 'CDC73', 'score': 0.14}]
chr1 GH01I192951 192951338 192953145 1.16 [{'connected_gene': 'GC01P192950', 'score': 550.77}, {'connected_gene': 'RGS2', 'score': 19.35}, {'connected_gene': 'RGS1', 'score': 6.2}, {'connected_gene': 'CDC73', 'score': 5.84}, {'connected_gene': 'TROVE2', 'score': 2.57}, {'connected_gene': 'ZNF101P2', 'score': 0.26}]