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
ENST00000517894 [[143530790, 143531465], [143545340, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143626370]] [[143545559, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143625778]]
ENST00000521208 [[143531039, 143531465], [143545340, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143626367]] [[143545559, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143614655, 143614823]]
ENST00000323289 [[143545376, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143626346]] [[143545559, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143625778]]
ENST00000518820 [[143560480, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143621381]] None
ENST00000518812 [[143624861, 143625069], [143625580, 143626045]] None
NM_001702 [[143545376, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143626368]] [[143545559, 143546343], [143556834, 143556996], [143557945, 143558056], [143558474, 143558639], [143558745, 143558910], [143559547, 143559721], [143560683, 143560848], [143561053, 143561155], [143562614, 143562721], [143562877, 143563072], [143565337, 143565406], [143566016, 143566125], [143569724, 143569868], [143570395, 143570471], [143570696, 143570799], [143572132, 143572176], [143592292, 143592434], [143599498, 143599602], [143602183, 143602286], [143603325, 143603476], [143604001, 143604071], [143605598, 143605665], [143607902, 143607988], [143614655, 143614827], [143618347, 143618443], [143620734, 143620774], [143623301, 143624008], [143624763, 143624799], [143624961, 143625069], [143625580, 143625778]]
Promoter
Chrom Start End Description
chr8 143530804 143530825 CAGE_peak_3_at_BAI1_5end
chr8 143531003 143531016 CAGE_peak_2_at_BAI1_5end
chr8 143531017 143531037 CAGE_peak_1_at_BAI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I142469 142469640 142472723 1.23 [{'connected_gene': 'JRK', 'score': 12.37}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'TSNARE1', 'score': 9.84}, {'connected_gene': 'ADGRB1', 'score': 0.34}, {'connected_gene': 'MROH4P', 'score': 0.14}]
chr8 GH08I142544 142544688 142545605 0.74 [{'connected_gene': 'JRK', 'score': 8.38}, {'connected_gene': 'MROH4P', 'score': 0.29}, {'connected_gene': 'ADGRB1', 'score': 0.15}]
chr8 GH08I142451 142451037 142451361 0.83 [{'connected_gene': 'ADGRB1', 'score': 555.12}, {'connected_gene': 'LYNX1', 'score': 10.23}, {'connected_gene': 'TSNARE1', 'score': 1.76}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142950 142950128 142953114 1.19 [{'connected_gene': 'ADGRB1', 'score': 11.68}, {'connected_gene': 'ENSG00000261710', 'score': 9.71}, {'connected_gene': 'LYNX1', 'score': 7.66}, {'connected_gene': 'LOC105375794', 'score': 0.31}, {'connected_gene': 'CDC42P3', 'score': 0.26}]
chr8 GH08I142935 142935931 142937490 0.7 [{'connected_gene': 'ADGRB1', 'score': 11.7}, {'connected_gene': 'ENSG00000261710', 'score': 9.71}, {'connected_gene': 'LYNX1', 'score': 8.71}, {'connected_gene': 'LOC105375794', 'score': 0.39}, {'connected_gene': 'CDC42P3', 'score': 0.22}]
chr8 GH08I142272 142272287 142272457 0.56 [{'connected_gene': 'ADGRB1', 'score': 1.7}, {'connected_gene': 'TSNARE1', 'score': 1.66}, {'connected_gene': 'PIR44902', 'score': 0.77}, {'connected_gene': 'RN7SL260P', 'score': 0.34}, {'connected_gene': 'GC08M142249', 'score': 0.34}]
chr8 GH08I142447 142447560 142447938 0.96 [{'connected_gene': 'ADGRB1', 'score': 550.77}, {'connected_gene': 'TSNARE1', 'score': 3.45}, {'connected_gene': 'ENSG00000261693', 'score': 0.26}]
chr8 GH08I142234 142234388 142236407 0.71 [{'connected_gene': 'ADGRB1', 'score': 6.65}, {'connected_gene': 'RN7SL260P', 'score': 0.39}, {'connected_gene': 'GC08M142249', 'score': 0.39}, {'connected_gene': 'LINC00051', 'score': 0.28}, {'connected_gene': 'TSNARE1', 'score': 0.1}]
chr8 GH08I142461 142457364 142457521 0.2 [{'connected_gene': 'ADGRB1', 'score': 0.44}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142462 142462229 142462910 0.2 [{'connected_gene': 'ADGRB1', 'score': 0.39}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142460 142459030 142459229 0.31 [{'connected_gene': 'ADGRB1', 'score': 0.44}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142459 142458671 142458922 0.31 [{'connected_gene': 'ADGRB1', 'score': 0.44}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142509 142509298 142514085 0.98 [{'connected_gene': 'ADGRB1', 'score': 0.21}, {'connected_gene': 'MROH4P', 'score': 0.2}]
chr8 GH08I142450 142450655 142450790 0.46 [{'connected_gene': 'ADGRB1', 'score': 550.77}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142458 142458399 142458540 0.2 [{'connected_gene': 'ADGRB1', 'score': 0.44}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142457 142457560 142457912 0.2 [{'connected_gene': 'ADGRB1', 'score': 0.44}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142454 142450515 142450648 0.46 [{'connected_gene': 'ADGRB1', 'score': 550.77}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142506 142506136 142507644 0.2 [{'connected_gene': 'ADGRB1', 'score': 0.22}, {'connected_gene': 'MROH4P', 'score': 0.19}]
chr8 GH08I142473 142473473 142477603 1.15 [{'connected_gene': 'ADGRB1', 'score': 0.31}, {'connected_gene': 'MROH4P', 'score': 0.15}]
chr8 GH08I142466 142466056 142468999 0.43 [{'connected_gene': 'ADGRB1', 'score': 0.37}, {'connected_gene': 'MROH4P', 'score': 0.14}]
chr8 GH08I142463 142463914 142463973 0.5 [{'connected_gene': 'ADGRB1', 'score': 550.39}, {'connected_gene': 'MROH4P', 'score': 0.14}]
chr8 GH08I142494 142494030 142495431 0.43 [{'connected_gene': 'ADGRB1', 'score': 0.25}, {'connected_gene': 'MROH4P', 'score': 0.18}]
chr8 GH08I142526 142526597 142528221 0.31 [{'connected_gene': 'THEM6', 'score': 5.53}, {'connected_gene': 'MROH4P', 'score': 0.23}, {'connected_gene': 'ADGRB1', 'score': 0.18}]
chr8 GH08I142452 142452580 142453260 1.73 [{'connected_gene': 'TSNARE1', 'score': 17.79}, {'connected_gene': 'JRK', 'score': 12.37}, {'connected_gene': 'ZNF696', 'score': 11.41}, {'connected_gene': 'LYNX1', 'score': 2.02}, {'connected_gene': 'ADGRB1', 'score': 1.9}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142325 142325086 142327574 0.65 [{'connected_gene': 'TSNARE1', 'score': 24.15}, {'connected_gene': 'ADGRB1', 'score': 10.32}, {'connected_gene': 'ENSG00000261693', 'score': 7.94}, {'connected_gene': 'GC08P142321', 'score': 0.77}]
chr8 GH08I142382 142382010 142384159 1.11 [{'connected_gene': 'TSNARE1', 'score': 17.23}, {'connected_gene': 'ADGRB1', 'score': 4.6}, {'connected_gene': 'GC08P142321', 'score': 0.21}]
chr8 GH08I142453 142453546 142453695 0.74 [{'connected_gene': 'TSNARE1', 'score': 3.19}, {'connected_gene': 'CYP11B2', 'score': 1.49}, {'connected_gene': 'ADGRB1', 'score': 0.77}, {'connected_gene': 'MROH4P', 'score': 0.13}]
chr8 GH08I142189 142189835 142190026 0.3 [{'connected_gene': 'LOC105375792', 'score': 550.77}, {'connected_gene': 'ADGRB1', 'score': 5.76}, {'connected_gene': 'LINC00051', 'score': 0.44}]
chr8 GH08I142545 142545640 142545829 0.75 [{'connected_gene': 'MROH4P', 'score': 0.29}, {'connected_gene': 'ADGRB1', 'score': 0.15}]
chr8 GH08I142528 142528433 142530398 0.49 [{'connected_gene': 'MROH4P', 'score': 0.25}, {'connected_gene': 'ADGRB1', 'score': 0.18}]
chr8 GH08I142530 142530888 142532117 0.52 [{'connected_gene': 'MROH4P', 'score': 0.25}, {'connected_gene': 'ADGRB1', 'score': 0.18}]
chr8 GH08I142533 142533528 142534719 0.46 [{'connected_gene': 'MROH4P', 'score': 0.26}, {'connected_gene': 'ADGRB1', 'score': 0.18}]
chr8 GH08I142322 142322710 142323145 0.27 [{'connected_gene': 'GC08P142321', 'score': 550.77}, {'connected_gene': 'ADGRB1', 'score': 13.45}, {'connected_gene': 'TSNARE1', 'score': 12.65}]
chr8 GH08I142416 142416860 142417009 0.2 [{'connected_gene': 'ENSG00000261693', 'score': 12.58}, {'connected_gene': 'ADGRB1', 'score': 0.29}]

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