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
ENST00000522677 [[67474409, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525484]] [[67476931, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
ENST00000517885 [[67476906, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488368], [67509759, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525529]] [[67476931, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488368], [67509759, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
ENST00000524176 [[67476931, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525142]] [[67476931, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
ENST00000522419 [[67477367, 67477742], [67478918, 67479023], [67479110, 67479193]] None
ENST00000518079 [[67509744, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67524748, 67524856]] None
ENST00000523304 [[67524379, 67526482]] None
NM_001080416 [[67474409, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525484]] [[67476931, 67477060], [67478298, 67478478], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
NM_001144755 [[67474409, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525484]] [[67476931, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492601], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
NM_001294282 [[67474409, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492598], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525484]] [[67476931, 67477060], [67478918, 67479023], [67479110, 67479227], [67484716, 67484831], [67485598, 67485741], [67488241, 67488610], [67492367, 67492598], [67504674, 67504779], [67505354, 67505429], [67507817, 67507992], [67509564, 67509785], [67511284, 67511377], [67513932, 67514004], [67514652, 67514758], [67525053, 67525073]]
Promoter
Chrom Start End Description
chr8 67525443 67525459 CAGE_peak_2_at_MYBL1_5end
chr8 67525467 67525472 CAGE_peak_4_at_MYBL1_5end
chr8 67525473 67525518 CAGE_peak_1_at_MYBL1_5end
chr8 67525524 67525543 CAGE_peak_3_at_MYBL1_5end
chr8 67526033 67526042 CAGE_peak_17_at_MYBL1_5end
chr8 67526476 67526487 CAGE_peak_18_at_MYBL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I066663 66663137 66669258 2.28 [{'connected_gene': 'C8orf44', 'score': 555.33}, {'connected_gene': 'C8orf44-SGK3', 'score': 550.77}, {'connected_gene': 'VCPIP1', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 21.09}, {'connected_gene': 'MYBL1', 'score': 11.59}, {'connected_gene': 'C8orf46', 'score': 4.53}, {'connected_gene': 'ENSG00000201365', 'score': 0.39}]
chr8 GH08I066661 66661859 66663020 0.98 [{'connected_gene': 'MYBL1', 'score': 11.6}, {'connected_gene': 'C8orf44', 'score': 4.99}, {'connected_gene': 'ADHFE1', 'score': 4.75}, {'connected_gene': 'VCPIP1', 'score': 0.77}, {'connected_gene': 'ENSG00000201365', 'score': 0.44}]
chr8 GH08I066589 66589253 66590109 0.31 [{'connected_gene': 'MYBL1', 'score': 11.49}, {'connected_gene': 'C8orf44', 'score': 4.71}, {'connected_gene': 'GC08M066613', 'score': 0.34}, {'connected_gene': 'RNU6-1324P', 'score': 0.17}]
chr8 GH08I066511 66511526 66514790 1.39 [{'connected_gene': 'MYBL1', 'score': 10.95}, {'connected_gene': 'C8orf46', 'score': 4.78}, {'connected_gene': 'MCMDC2', 'score': 3.53}, {'connected_gene': 'RNU6-1324P', 'score': 0.39}, {'connected_gene': 'GC08M066613', 'score': 0.15}]
chr8 GH08I066506 66506560 66508692 1.25 [{'connected_gene': 'MYBL1', 'score': 10.6}, {'connected_gene': 'ADHFE1', 'score': 5.4}, {'connected_gene': 'RNU6-1324P', 'score': 0.44}, {'connected_gene': 'C8orf46', 'score': 0.25}, {'connected_gene': 'GC08M066613', 'score': 0.14}]
chr8 GH08I066510 66509886 66511341 0.51 [{'connected_gene': 'MYBL1', 'score': 10.95}, {'connected_gene': 'RNU6-1324P', 'score': 0.44}, {'connected_gene': 'C8orf46', 'score': 0.23}, {'connected_gene': 'GC08M066613', 'score': 0.15}]
chr8 GH08I066509 66509268 66509740 0.2 [{'connected_gene': 'MYBL1', 'score': 10.6}, {'connected_gene': 'RNU6-1324P', 'score': 0.44}, {'connected_gene': 'C8orf46', 'score': 0.25}, {'connected_gene': 'GC08M066613', 'score': 0.15}]
chr8 GH08I066541 66541739 66542800 1.07 [{'connected_gene': 'MYBL1', 'score': 11.67}, {'connected_gene': 'RNU6-1324P', 'score': 11.3}, {'connected_gene': 'GC08M066613', 'score': 0.19}]
chr8 GH08I066565 66565166 66566363 0.2 [{'connected_gene': 'MYBL1', 'score': 10.71}, {'connected_gene': 'RNU6-1324P', 'score': 10.26}, {'connected_gene': 'GC08M066613', 'score': 0.25}]
chr8 GH08I066546 66546155 66550296 0.9 [{'connected_gene': 'MYBL1', 'score': 11.68}, {'connected_gene': 'RNU6-1324P', 'score': 11.28}, {'connected_gene': 'GC08M066613', 'score': 0.21}]
chr8 GH08I066587 66587004 66587153 0.2 [{'connected_gene': 'MYBL1', 'score': 11.46}, {'connected_gene': 'GC08M066613', 'score': 0.31}, {'connected_gene': 'RNU6-1324P', 'score': 0.17}]
chr8 GH08I066539 66539585 66541056 0.38 [{'connected_gene': 'MYBL1', 'score': 11.67}, {'connected_gene': 'RNU6-1324P', 'score': 11.31}, {'connected_gene': 'GC08M066613', 'score': 0.19}]
chr8 GH08I066605 66605952 66614801 2.53 [{'connected_gene': 'MYBL1', 'score': 558.84}, {'connected_gene': 'ARFGEF1', 'score': 16.66}, {'connected_gene': 'C8orf44', 'score': 14.44}, {'connected_gene': 'ADHFE1', 'score': 11.98}, {'connected_gene': 'RRS1', 'score': 10.42}, {'connected_gene': 'RRS1-AS1', 'score': 10.42}, {'connected_gene': 'C8orf46', 'score': 4.71}, {'connected_gene': 'VCPIP1', 'score': 2.9}, {'connected_gene': 'GC08M066612', 'score': 0.77}, {'connected_gene': 'GC08M066613', 'score': 0.77}, {'connected_gene': 'LOC105375884', 'score': 0.77}, {'connected_gene': 'RNU6-1324P', 'score': 0.14}]
chr8 GH08I066493 66493417 66495033 1.54 [{'connected_gene': 'C8orf46', 'score': 556.4}, {'connected_gene': 'MYBL1', 'score': 10.74}, {'connected_gene': 'RNU6-1324P', 'score': 0.44}, {'connected_gene': 'LOC100131770', 'score': 0.39}]
chr8 GH08I066445 66445544 66446586 0.46 [{'connected_gene': 'C8orf46', 'score': 25.4}, {'connected_gene': 'ADHFE1', 'score': 14.46}, {'connected_gene': 'MYBL1', 'score': 10.59}, {'connected_gene': 'LOC102724687', 'score': 0.39}, {'connected_gene': 'GC08P066013', 'score': 0.04}]
chr8 GH08I066466 66466499 66469433 0.49 [{'connected_gene': 'C8orf46', 'score': 48.28}, {'connected_gene': 'ADHFE1', 'score': 17.38}, {'connected_gene': 'RNU6-1324P', 'score': 12.09}, {'connected_gene': 'MYBL1', 'score': 10.77}, {'connected_gene': 'LOC100131770', 'score': 0.39}]
chr8 GH08I066531 66531369 66537459 1.55 [{'connected_gene': 'RNU6-1324P', 'score': 12.51}, {'connected_gene': 'MYBL1', 'score': 6.69}, {'connected_gene': 'ADHFE1', 'score': 5.99}, {'connected_gene': 'VCPIP1', 'score': 3.27}, {'connected_gene': 'MCMDC2', 'score': 2.66}, {'connected_gene': 'GC08M066613', 'score': 0.18}]
chr8 GH08I066559 66559413 66562233 0.96 [{'connected_gene': 'RNU6-1324P', 'score': 11.38}, {'connected_gene': 'ADHFE1', 'score': 5.32}, {'connected_gene': 'GC08M066613', 'score': 0.23}, {'connected_gene': 'MYBL1', 'score': 0.23}]
chr8 GH08I066516 66516071 66528371 1.66 [{'connected_gene': 'LOC100288001', 'score': 12.49}, {'connected_gene': 'RNU6-1324P', 'score': 12.21}, {'connected_gene': 'ARMC1', 'score': 11.12}, {'connected_gene': 'MYBL1', 'score': 11.02}, {'connected_gene': 'CSPP1', 'score': 9.76}, {'connected_gene': 'C8orf46', 'score': 0.21}, {'connected_gene': 'GC08M066613', 'score': 0.16}]
chr8 GH08I066628 66628746 66628895 0.2 [{'connected_gene': 'GC08M066630', 'score': 550.77}, {'connected_gene': 'MYBL1', 'score': 0.39}, {'connected_gene': 'GC08M066612', 'score': 0.39}, {'connected_gene': 'VCPIP1', 'score': 0.28}]