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
ENST00000233099 [[37208039, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37229448, 37229715], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310579], [37311411, 37311485]] [[37208632, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37229448, 37229715], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310557]]
ENST00000354531 [[37208152, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310579], [37311411, 37311485]] [[37208632, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310557]]
ENST00000425467 [[37195525, 37195744], [37215788, 37216002]] [[37195610, 37195744], [37215788, 37216002]]
ENST00000471051 [[37235310, 37235991], [37240983, 37241138]] None
ENST00000467978 [[37268166, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283627]] None
ENST00000478810 [[37299354, 37299424], [37302627, 37303307]] None
NM_019024 [[37208141, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37229448, 37229715], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310579], [37311411, 37311488]] [[37208632, 37208937], [37215788, 37216002], [37217790, 37217942], [37227728, 37227956], [37229448, 37229715], [37230684, 37230829], [37232774, 37232902], [37234192, 37234447], [37235753, 37235991], [37240983, 37241163], [37246951, 37247020], [37247797, 37247979], [37255065, 37255317], [37255823, 37256063], [37259771, 37259916], [37264997, 37265167], [37267471, 37267661], [37268275, 37268435], [37276795, 37276986], [37280644, 37280750], [37283582, 37283758], [37284459, 37284623], [37285593, 37285703], [37286030, 37286130], [37287723, 37287876], [37289081, 37289193], [37291882, 37292133], [37292897, 37293053], [37295823, 37296073], [37297372, 37297530], [37299252, 37299424], [37302627, 37302777], [37304053, 37304162], [37306262, 37306474], [37310431, 37310557]]
Promoter
Chrom Start End Description
chr2 37303785 37303790 CAGE_peak_3_at_HEATR5B_5end
chr2 37311414 37311443 CAGE_peak_2_at_HEATR5B_5end
chr2 37311445 37311534 CAGE_peak_1_at_HEATR5B_5end
chr2 37311728 37311735 CAGE_peak_5_at_HEATR5B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I036555 36555130 36571533 1.49 [{'connected_gene': 'FEZ2', 'score': 29.63}, {'connected_gene': 'ENSG00000272054', 'score': 20.45}, {'connected_gene': 'HEATR5B', 'score': 10.91}, {'connected_gene': 'CEBPZ', 'score': 10.23}, {'connected_gene': 'CRIM1', 'score': 1.81}, {'connected_gene': 'GC02M036589', 'score': 0.31}, {'connected_gene': 'GC02P036523', 'score': 0.28}]
chr2 GH02I037000 37000024 37001619 0.31 [{'connected_gene': 'STRN', 'score': 19.5}, {'connected_gene': 'GC02M036982', 'score': 0.37}, {'connected_gene': 'HEATR5B', 'score': 0.18}]
chr2 GH02I037019 37019680 37021782 0.66 [{'connected_gene': 'STRN', 'score': 20.25}, {'connected_gene': 'GC02M036982', 'score': 0.28}, {'connected_gene': 'HEATR5B', 'score': 0.21}]
chr2 GH02I036972 36972140 36972143 0.49 [{'connected_gene': 'STRN', 'score': 0.44}, {'connected_gene': 'GC02M036982', 'score': 0.39}, {'connected_gene': 'HEATR5B', 'score': 0.14}]
chr2 GH02I036961 36961576 36968848 2.29 [{'connected_gene': 'STRN', 'score': 562.56}, {'connected_gene': 'ENSG00000272054', 'score': 12.37}, {'connected_gene': 'GPATCH11', 'score': 5.52}, {'connected_gene': 'GC02P036908', 'score': 0.22}, {'connected_gene': 'HEATR5B', 'score': 0.13}]
chr2 GH02I037012 37012601 37013998 0.91 [{'connected_gene': 'STRN', 'score': 16.37}, {'connected_gene': 'GPATCH11', 'score': 5.13}, {'connected_gene': 'GC02M036982', 'score': 0.31}, {'connected_gene': 'HEATR5B', 'score': 0.19}]
chr2 GH02I037060 37060163 37061007 0.2 [{'connected_gene': 'HEATR5B', 'score': 17.42}, {'connected_gene': 'GPATCH11', 'score': 12.61}, {'connected_gene': 'STRN', 'score': 10.48}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037110 37110898 37111027 0.31 [{'connected_gene': 'HEATR5B', 'score': 12.98}, {'connected_gene': 'GPATCH11', 'score': 12.98}, {'connected_gene': 'ENSG00000224891', 'score': 0.28}, {'connected_gene': 'EIF2AK2', 'score': 0.25}]
chr2 GH02I037083 37083091 37085468 2.03 [{'connected_gene': 'HEATR5B', 'score': 565.13}, {'connected_gene': 'GPATCH11', 'score': 550.77}, {'connected_gene': 'ENSG00000272054', 'score': 20.54}, {'connected_gene': 'CEBPZ', 'score': 10.31}, {'connected_gene': 'GC02M036982', 'score': 0.15}]
chr2 GH02I037085 37085698 37086087 0.54 [{'connected_gene': 'HEATR5B', 'score': 555.76}, {'connected_gene': 'GPATCH11', 'score': 550.77}, {'connected_gene': 'ENSG00000224891', 'score': 0.21}]
chr2 GH02I037072 37072264 37073062 0.2 [{'connected_gene': 'HEATR5B', 'score': 5.13}, {'connected_gene': 'GC02M036982', 'score': 0.17}]
chr2 GH02I036448 36448783 36463851 1.7 [{'connected_gene': 'CRIM1', 'score': 15.89}, {'connected_gene': 'LOC100288911', 'score': 10.4}, {'connected_gene': 'HEATR5B', 'score': 6.22}, {'connected_gene': 'ENSG00000273090', 'score': 0.22}, {'connected_gene': 'GC02P036388', 'score': 0.2}]
chr2 GH02I037098 37098017 37099724 0.43 [{'connected_gene': 'GPATCH11', 'score': 11.7}, {'connected_gene': 'EIF2AK2', 'score': 10.72}, {'connected_gene': 'HEATR5B', 'score': 5.15}, {'connected_gene': 'CEBPZOS', 'score': 4.53}, {'connected_gene': 'ENSG00000224891', 'score': 0.25}]
chr2 GH02I037062 37062845 37063799 0.2 [{'connected_gene': 'GPATCH11', 'score': 21.77}, {'connected_gene': 'HEATR5B', 'score': 11.9}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037079 37079369 37081960 0.83 [{'connected_gene': 'GPATCH11', 'score': 12.5}, {'connected_gene': 'CEBPZOS', 'score': 6.31}, {'connected_gene': 'HEATR5B', 'score': 5.99}, {'connected_gene': 'GC02M036982', 'score': 0.15}]
chr2 GH02I037270 37270349 37270512 0.24 [{'connected_gene': 'PRKD3', 'score': 17.51}, {'connected_gene': 'CEBPZ', 'score': 11.61}, {'connected_gene': 'NDUFAF7', 'score': 11.61}, {'connected_gene': 'LOC101929542', 'score': 10.79}, {'connected_gene': 'HEATR5B', 'score': 1.38}, {'connected_gene': 'PIR41480', 'score': 0.34}, {'connected_gene': 'GC02M037305', 'score': 0.28}]
chr2 GH02I038070 38070412 38078033 2.37 [{'connected_gene': 'CYP1B1', 'score': 561.74}, {'connected_gene': 'CYP1B1-AS1', 'score': 555.8}, {'connected_gene': 'ENSG00000272054', 'score': 40.2}, {'connected_gene': 'SRSF7', 'score': 36.48}, {'connected_gene': 'DHX57', 'score': 18.91}, {'connected_gene': 'ASS1P2', 'score': 12.95}, {'connected_gene': 'CEBPZ', 'score': 11.55}, {'connected_gene': 'HEATR5B', 'score': 11.55}, {'connected_gene': 'RMDN2', 'score': 7.76}]
chr2 GH02I037582 37582331 37591137 1.56 [{'connected_gene': 'CDC42EP3', 'score': 16.91}, {'connected_gene': 'ENSG00000272054', 'score': 14.89}, {'connected_gene': 'HEATR5B', 'score': 13.19}, {'connected_gene': 'LOC105374464', 'score': 11.71}, {'connected_gene': 'PRKD3', 'score': 4.3}, {'connected_gene': 'EIF2AK2', 'score': 4.08}, {'connected_gene': 'CYP1B1', 'score': 3.53}, {'connected_gene': 'GC02M037562', 'score': 0.34}, {'connected_gene': 'GC02P037671', 'score': 0.17}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037125 37125151 37126044 0.2 [{'connected_gene': 'CEBPZ', 'score': 15.47}, {'connected_gene': 'NDUFAF7', 'score': 11.15}, {'connected_gene': 'HEATR5B', 'score': 5.04}, {'connected_gene': 'ENSG00000224891', 'score': 0.34}, {'connected_gene': 'EIF2AK2', 'score': 0.29}, {'connected_gene': 'GPATCH11', 'score': 0.26}]
chr2 GH02I037068 37068432 37069111 0.2 [{'connected_gene': 'CEBPZ', 'score': 10.9}, {'connected_gene': 'NDUFAF7', 'score': 10.9}, {'connected_gene': 'HEATR5B', 'score': 4.97}, {'connected_gene': 'GC02M036982', 'score': 0.18}]
chr2 GH02I037230 37230000 37233216 2.05 [{'connected_gene': 'CEBPZ', 'score': 560.97}, {'connected_gene': 'NDUFAF7', 'score': 555.54}, {'connected_gene': 'ENSG00000272054', 'score': 20.76}, {'connected_gene': 'CEBPZOS', 'score': 19.65}, {'connected_gene': 'HEATR5B', 'score': 10.99}]
chr2 GH02I037089 37089677 37092335 0.96 [{'connected_gene': 'CEBPZ', 'score': 15.01}, {'connected_gene': 'NDUFAF7', 'score': 10.59}, {'connected_gene': 'CEBPZOS', 'score': 6.88}, {'connected_gene': 'GPATCH11', 'score': 6.52}, {'connected_gene': 'STRN', 'score': 5.74}, {'connected_gene': 'HEATR5B', 'score': 5.42}, {'connected_gene': 'ENSG00000224891', 'score': 0.22}]
chr2 GH02I037349 37349132 37350287 1.39 [{'connected_gene': 'CEBPZOS', 'score': 14.61}, {'connected_gene': 'PRKD3', 'score': 13.32}, {'connected_gene': 'LOC101929542', 'score': 11.94}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'HEATR5B', 'score': 3.41}, {'connected_gene': 'STRN', 'score': 2.11}, {'connected_gene': 'QPCT', 'score': 2.07}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2 GH02I036534 36534697 36535257 0.83 [{'connected_gene': 'ENSG00000272054', 'score': 17.98}, {'connected_gene': 'FEZ2', 'score': 17.73}, {'connected_gene': 'HEATR5B', 'score': 11.39}, {'connected_gene': 'CEBPZ', 'score': 10.96}, {'connected_gene': 'GC02P036523', 'score': 0.39}, {'connected_gene': 'GC02M036589', 'score': 0.22}, {'connected_gene': 'CRIM1', 'score': 0.1}]
chr2 GH02I036614 36614124 36618800 1.05 [{'connected_gene': 'ENSG00000272054', 'score': 35.33}, {'connected_gene': 'FEZ2', 'score': 13.94}, {'connected_gene': 'HEATR5B', 'score': 12.05}, {'connected_gene': 'CEBPZ', 'score': 10.66}, {'connected_gene': 'PRKD3', 'score': 10.39}, {'connected_gene': 'CRIM1', 'score': 10.1}, {'connected_gene': 'GC02M036589', 'score': 0.34}]
chr2 GH02I037004 37004870 37005611 0.73 [{'connected_gene': 'ENSG00000272054', 'score': 20.5}, {'connected_gene': 'STRN', 'score': 18.02}, {'connected_gene': 'HEATR5B', 'score': 11.06}, {'connected_gene': 'CEBPZ', 'score': 10.28}, {'connected_gene': 'GC02M036982', 'score': 0.34}]
chr2 GH02I037560 37560192 37563991 1.71 [{'connected_gene': 'GC02M037562', 'score': 550.77}, {'connected_gene': 'ENSG00000272054', 'score': 22.6}, {'connected_gene': 'CDC42EP3', 'score': 14.49}, {'connected_gene': 'HEATR5B', 'score': 12.05}, {'connected_gene': 'LOC105374464', 'score': 11.36}, {'connected_gene': 'CEBPZ', 'score': 10.69}, {'connected_gene': 'EIF2AK2', 'score': 2.89}, {'connected_gene': 'GC02P037427', 'score': 0.12}]
chr2 GH02I036378 36378957 36382854 1.34 [{'connected_gene': 'ENSG00000272054', 'score': 20.01}, {'connected_gene': 'CEBPZ', 'score': 11.55}, {'connected_gene': 'HEATR5B', 'score': 11.55}, {'connected_gene': 'LOC100288911', 'score': 5.64}, {'connected_gene': 'GC02P036388', 'score': 0.44}, {'connected_gene': 'CRIM1', 'score': 0.31}, {'connected_gene': 'GC02P035894', 'score': 0.04}]

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