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
ENST00000396231 [[43924623, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44204874, 44205011], [44208047, 44208070]] [[43924732, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151696]]
ENST00000262726 [[43924623, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44168771, 44168983], [44178059, 44178205], [44204874, 44205011], [44208047, 44208157]] [[43924732, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44168771, 44168983], [44178059, 44178198]]
ENST00000468552 [[43947725, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068150]] None
ENST00000358439 [[44073870, 44074043], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44178059, 44178205], [44208047, 44208117]] [[44074024, 44074043], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44178059, 44178092]]
ENST00000404038 [[44079543, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44168771, 44168983], [44178059, 44178205], [44204874, 44205011], [44208047, 44208217]] None
ENST00000356087 [[44112550, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44178059, 44178205], [44204874, 44205011], [44208047, 44208185]] [[44112688, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44178059, 44178092]]
ENST00000476600 [[44161184, 44161273], [44193124, 44193231], [44204874, 44205011], [44208047, 44208133]] None
ENST00000461800 [[43924623, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43965966, 43966023]] None
ENST00000483324 [[43924657, 43924855], [43926694, 43926844], [43929250, 43929385]] None
ENST00000477145 [[43924659, 43924855], [43926694, 43926844], [43927895, 43927941]] None
ENST00000485142 [[44178089, 44178205], [44193124, 44193231], [44204874, 44205011], [44208047, 44208154]] None
NM_022785 [[43924623, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44168771, 44168983], [44178059, 44178205], [44204874, 44205011], [44208047, 44208217]] [[43924732, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44168771, 44168983], [44178059, 44178198]]
NM_198856 [[43924623, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151712], [44161184, 44161273], [44204874, 44205011], [44208047, 44208217]] [[43924732, 43924855], [43926694, 43926844], [43930567, 43930752], [43933256, 43933425], [43936006, 43936237], [43950748, 43950976], [43972176, 43972368], [43976343, 43976539], [43985953, 43986109], [43995948, 43996143], [44004361, 44004480], [44011705, 44011802], [44022326, 44022559], [44027984, 44028118], [44030981, 44031096], [44062983, 44063152], [44064751, 44064925], [44067852, 44068013], [44068125, 44068185], [44073875, 44074043], [44079626, 44079735], [44083350, 44083461], [44107354, 44107503], [44112727, 44112852], [44127578, 44127691], [44131736, 44131873], [44151645, 44151696]]
Promoter
Chrom Start End Description
chr22 43966036 43966052 CAGE_peak_4_at_EFCAB6_5end
chr22 44208092 44208107 CAGE_peak_3_at_EFCAB6_5end
chr22 44208110 44208135 CAGE_peak_2_at_EFCAB6_5end
chr22 44208137 44208219 CAGE_peak_1_at_EFCAB6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I043901 43901532 43903237 0.52 [{'connected_gene': 'PNPLA3', 'score': 36.85}, {'connected_gene': 'SULT4A1', 'score': 10.9}, {'connected_gene': 'EFCAB6', 'score': 10.71}, {'connected_gene': 'SHISAL1', 'score': 9.75}, {'connected_gene': 'PNPLA5', 'score': 0.39}]
chr22 GH22I043897 43897624 43898407 0.49 [{'connected_gene': 'EFCAB6', 'score': 20.57}, {'connected_gene': 'PNPLA3', 'score': 12.27}, {'connected_gene': 'SULT4A1', 'score': 11.36}, {'connected_gene': 'MPPED1', 'score': 10.11}, {'connected_gene': 'PNPLA5', 'score': 0.44}]
chr22 GH22I043825 43825193 43831262 1.05 [{'connected_gene': 'EFCAB6', 'score': 9.24}, {'connected_gene': 'SULT4A1', 'score': 8.11}, {'connected_gene': 'GC22P043826', 'score': 0.77}, {'connected_gene': 'PIR35779', 'score': 0.77}, {'connected_gene': 'LOC105373057', 'score': 0.44}]
chr22 GH22I043848 43848781 43849010 0.56 [{'connected_gene': 'EFCAB6', 'score': 11.41}, {'connected_gene': 'GC22M043840', 'score': 0.77}, {'connected_gene': 'SULT4A1', 'score': 0.39}]
chr22 GH22I043867 43867921 43868110 0.81 [{'connected_gene': 'EFCAB6', 'score': 19.21}, {'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'PNPLA3', 'score': 10.94}, {'connected_gene': 'SAMM50', 'score': 10.34}, {'connected_gene': 'RPL35AP36', 'score': 10.34}, {'connected_gene': 'SHISAL1', 'score': 9.46}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043811 43811401 43813392 1.94 [{'connected_gene': 'EFCAB6', 'score': 559.45}, {'connected_gene': 'ENSG00000261251', 'score': 550.77}, {'connected_gene': 'PNPLA5', 'score': 6.08}, {'connected_gene': 'SULT4A1', 'score': 5.54}]
chr22 GH22I043862 43862400 43862670 1.66 [{'connected_gene': 'SULT4A1', 'score': 556.7}, {'connected_gene': 'EFCAB6', 'score': 5.94}, {'connected_gene': 'PNPLA5', 'score': 0.31}]
chr22 GH22I043706 43706281 43706490 0.38 [{'connected_gene': 'SULT4A1', 'score': 10.21}, {'connected_gene': 'GC22M043712', 'score': 0.44}, {'connected_gene': 'PIR41496', 'score': 0.21}, {'connected_gene': 'EFCAB6', 'score': 0.14}]
chr22 GH22I043789 43789086 43790190 0.76 [{'connected_gene': 'SULT4A1', 'score': 10.48}, {'connected_gene': 'GC22P043785', 'score': 0.77}, {'connected_gene': 'HMGN2P9', 'score': 0.39}, {'connected_gene': 'EFCAB6', 'score': 0.34}]
chr22 GH22I043868 43868211 43869537 0.72 [{'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'EFCAB6', 'score': 11.04}, {'connected_gene': 'PNPLA3', 'score': 10.44}, {'connected_gene': 'SHISAL1', 'score': 9.15}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043669 43669730 43672742 0.31 [{'connected_gene': 'PIR41496', 'score': 0.31}, {'connected_gene': 'GC22M043712', 'score': 0.26}, {'connected_gene': 'EFCAB6', 'score': 0.11}]
chr22 GH22I043616 43616801 43616950 0.6 [{'connected_gene': 'GC22P043617', 'score': 550.77}, {'connected_gene': 'GC22M043568', 'score': 0.25}, {'connected_gene': 'EFCAB6', 'score': 0.08}]
chr22 GH22I043726 43726421 43726570 0.56 [{'connected_gene': 'GC22M043712', 'score': 0.39}, {'connected_gene': 'GC22M043714', 'score': 0.34}, {'connected_gene': 'EFCAB6', 'score': 0.17}]
chr22 GH22I043643 43643026 43643859 0.31 [{'connected_gene': 'PIR41496', 'score': 550.77}, {'connected_gene': 'YWHAQP2', 'score': 550.77}, {'connected_gene': 'GC22P043617', 'score': 0.31}, {'connected_gene': 'EFCAB6', 'score': 0.1}]

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