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
ENST00000583529 [[8213558, 8213661], [8214145, 8214181], [8215308, 8215706]] [[8215357, 8215706]]
ENST00000455564 [[8213597, 8213661], [8215308, 8217349]] None
ENST00000361926 [[8213600, 8213661], [8215308, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8225829]] [[8215357, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8224311]]
ENST00000579439 [[8214139, 8214181], [8215308, 8215958], [8216239, 8216261]] [[8215357, 8215958], [8216239, 8216261]]
ENST00000421050 [[8215306, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8225828]] [[8215357, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8224311]]
ENST00000581809 [[8216358, 8216572], [8216818, 8216975], [8217063, 8217360]] [[8216358, 8216572], [8216818, 8216880]]
ENST00000578286 [[8218186, 8218282], [8218383, 8218595], [8218731, 8218892]] None
ENST00000582060 [[8222083, 8222228], [8222373, 8222476]] None
NM_173728 [[8213555, 8213661], [8215308, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8225834]] [[8215357, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8224311]]
NM_025014 [[8214139, 8214181], [8215308, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8225834]] [[8215357, 8215958], [8216239, 8216572], [8216818, 8216873], [8218223, 8218282], [8218383, 8218595], [8218731, 8218892], [8219072, 8219225], [8219336, 8219466], [8221704, 8221779], [8221887, 8221980], [8222067, 8222228], [8222324, 8222477], [8222629, 8222712], [8222816, 8222921], [8224159, 8224311]]
Promoter
Chrom Start End Description
chr17 8213539 8213566 CAGE_peak_1_at_ARHGEF15_5end
chr17 8213567 8213579 CAGE_peak_3_at_ARHGEF15_5end
chr17 8213590 8213603 CAGE_peak_4_at_ARHGEF15_5end
chr17 8214130 8214149 CAGE_peak_2_at_ARHGEF15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008292 8292201 8293917 0.92 [{'connected_gene': 'PFAS', 'score': 7.33}, {'connected_gene': 'ARHGEF15', 'score': 5.49}, {'connected_gene': 'GC17M008518', 'score': 0.77}, {'connected_gene': 'SLC25A35', 'score': 0.77}, {'connected_gene': 'PIR39549', 'score': 0.77}]
chr17 GH17I008300 8300535 8301095 1.06 [{'connected_gene': 'PER1', 'score': 11.51}, {'connected_gene': 'TP53', 'score': 9.98}, {'connected_gene': 'PFAS', 'score': 6.03}, {'connected_gene': 'SLC25A35', 'score': 5.89}, {'connected_gene': 'ENSG00000271029', 'score': 0.77}, {'connected_gene': 'ARHGEF15', 'score': 0.44}]
chr17 GH17I008287 8287673 8290275 1.99 [{'connected_gene': 'RANGRF', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 9.56}, {'connected_gene': 'ARHGEF15', 'score': 4.74}, {'connected_gene': 'GC17M008518', 'score': 0.77}, {'connected_gene': 'PIR39549', 'score': 0.77}, {'connected_gene': 'SLC25A35', 'score': 0.44}]
chr17 GH17I007850 7850578 7852872 1.32 [{'connected_gene': 'SENP3', 'score': 10.61}, {'connected_gene': 'CHD3', 'score': 10.14}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.66}, {'connected_gene': 'NAA38', 'score': 7.6}, {'connected_gene': 'CYB5D1', 'score': 7.39}, {'connected_gene': 'BORCS6', 'score': 5.91}, {'connected_gene': 'ARHGEF15', 'score': 5.69}, {'connected_gene': 'KDM6B', 'score': 4.95}, {'connected_gene': 'TMEM88', 'score': 0.77}, {'connected_gene': 'PIR44061', 'score': 0.77}]
chr17 GH17I008311 8311601 8311800 0.46 [{'connected_gene': 'ARHGEF15', 'score': 550.77}, {'connected_gene': 'ENSG00000226871', 'score': 0.44}]
chr17 GH17I008310 8310059 8310720 1.3 [{'connected_gene': 'ARHGEF15', 'score': 550.77}, {'connected_gene': 'ENSG00000226871', 'score': 5.53}]
chr17 GH17I008312 8310773 8310832 0.73 [{'connected_gene': 'ARHGEF15', 'score': 550.77}, {'connected_gene': 'ENSG00000226871', 'score': 0.44}]

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