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
ENST00000361566 [[39679868, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681251], [39681442, 39681525], [39684079, 39684560]] [[39679994, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681251], [39681442, 39681525], [39684079, 39684499]]
ENST00000468880 [[39679965, 39680520], [39680630, 39680792], [39681094, 39681245]] None
ENST00000593096 [[39680126, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681251], [39681442, 39681525], [39681620, 39681697]] [[39680126, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681226]]
ENST00000471565 [[39680239, 39680520], [39680630, 39681003]] None
ENST00000479031 [[39680744, 39680792], [39681094, 39681473]] None
ENST00000455635 [[39680770, 39680792], [39681094, 39681251], [39681442, 39681525], [39684172, 39684551]] [[39680770, 39680792], [39681094, 39681251], [39681442, 39681525], [39684172, 39684499]]
ENST00000462611 [[39681229, 39681251], [39681442, 39681924]] None
NM_002276 [[39679868, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681251], [39681442, 39681525], [39684079, 39684641]] [[39679994, 39680249], [39680394, 39680520], [39680630, 39680792], [39681094, 39681251], [39681442, 39681525], [39684079, 39684499]]
Promoter
Chrom Start End Description
chr17 39680672 39680701 CAGE_peak_4_at_KRT19_5end
chr17 39680781 39680798 CAGE_peak_2_at_KRT19_5end
chr17 39681578 39681594 CAGE_peak_5_at_KRT19_5end
chr17 39684550 39684567 CAGE_peak_1_at_KRT19_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041532 41532302 41533966 0.83 [{'connected_gene': 'KRT36', 'score': 11.1}, {'connected_gene': 'KRT14', 'score': 10.88}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.69}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRT19', 'score': 9.26}, {'connected_gene': 'LINC00974', 'score': 0.34}]
chr17 GH17I040948 40948885 40960541 1.66 [{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17 GH17I041546 41546713 41550636 1.44 [{'connected_gene': 'SMARCE1', 'score': 26.43}, {'connected_gene': 'ENSG00000267758', 'score': 21.72}, {'connected_gene': 'KLHL10', 'score': 13.29}, {'connected_gene': 'KRT14', 'score': 11.69}, {'connected_gene': 'STAT5A', 'score': 10.72}, {'connected_gene': 'ACLY', 'score': 10.23}, {'connected_gene': 'CAVIN1', 'score': 10.21}, {'connected_gene': 'NAGLU', 'score': 9.79}, {'connected_gene': 'KRT15', 'score': 6.36}, {'connected_gene': 'LINC00974', 'score': 5.76}, {'connected_gene': 'GC17M041544', 'score': 0.44}, {'connected_gene': 'KRT19', 'score': 0.34}]
chr17 GH17I042283 42282935 42284094 0.77 [{'connected_gene': 'FKBP10', 'score': 5.04}, {'connected_gene': 'KRT19', 'score': 4.28}, {'connected_gene': 'STAT5A', 'score': 0.77}, {'connected_gene': 'STAT5B', 'score': 0.44}]
chr17 GH17I041518 41518469 41532039 2.8 [{'connected_gene': 'KRT19', 'score': 562.19}, {'connected_gene': 'KRT15', 'score': 556.16}, {'connected_gene': 'ENSG00000267758', 'score': 25.12}, {'connected_gene': 'SMARCE1', 'score': 21.17}, {'connected_gene': 'ACLY', 'score': 11.64}, {'connected_gene': 'DHX58', 'score': 11.19}, {'connected_gene': 'KRT36', 'score': 11.12}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'KRT14', 'score': 10.86}, {'connected_gene': 'STAT5A', 'score': 10.08}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.7}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRTAP9-2', 'score': 2.53}, {'connected_gene': 'KRTAP2-1', 'score': 2.23}, {'connected_gene': 'KRTAP2-2', 'score': 1.8}, {'connected_gene': 'KRTAP9-9', 'score': 1.75}, {'connected_gene': 'KRTAP9-1', 'score': 1.75}, {'connected_gene': 'KRTAP4-11', 'score': 1.59}, {'connected_gene': 'JUP', 'score': 1.55}]
chr17 GH17I041540 41540086 41541634 0.92 [{'connected_gene': 'KRT19', 'score': 7.12}, {'connected_gene': 'LINC00974', 'score': 0.39}]
chr17 GH17I041542 41542529 41542658 0.51 [{'connected_gene': 'KRT19', 'score': 0.39}, {'connected_gene': 'LINC00974', 'score': 0.39}]
chr17 GH17I041620 41620949 41627446 1.63 [{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17 GH17I041578 41578874 41589513 1.95 [{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17 GH17I041506 41506481 41506658 1.09 [{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17 GH17I041791 41791636 41796772 1.7 [{'connected_gene': 'JUP', 'score': 93.77}, {'connected_gene': 'NT5C3B', 'score': 14.29}, {'connected_gene': 'KLHL11', 'score': 11.21}, {'connected_gene': 'KRT15', 'score': 6.89}, {'connected_gene': 'ENSG00000267632', 'score': 5.1}, {'connected_gene': 'TUBG2', 'score': 4.53}, {'connected_gene': 'ACLY', 'score': 4.32}, {'connected_gene': 'KRT19', 'score': 3.99}, {'connected_gene': 'KRT16', 'score': 3.84}, {'connected_gene': 'KRT17', 'score': 3.45}, {'connected_gene': 'KRT9', 'score': 2.29}, {'connected_gene': 'KRT14', 'score': 1.77}, {'connected_gene': 'KRT36', 'score': 1.34}, {'connected_gene': 'PIR32942', 'score': 0.44}, {'connected_gene': 'PIR33798', 'score': 0.37}]
chr17 GH17I041798 41798764 41802238 1.65 [{'connected_gene': 'JUP', 'score': 39.38}, {'connected_gene': 'NT5C3B', 'score': 25.67}, {'connected_gene': 'ENSG00000267758', 'score': 16.39}, {'connected_gene': 'KLHL11', 'score': 11.68}, {'connected_gene': 'KLHL10', 'score': 11.12}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'STAT5A', 'score': 10.1}, {'connected_gene': 'LOC108783654', 'score': 10.0}, {'connected_gene': 'CNP', 'score': 9.85}, {'connected_gene': 'TTC25', 'score': 4.51}, {'connected_gene': 'KRT19', 'score': 3.0}, {'connected_gene': 'KRT17', 'score': 2.85}, {'connected_gene': 'KRT15', 'score': 1.67}, {'connected_gene': 'KRT16', 'score': 1.58}, {'connected_gene': 'KRT14', 'score': 1.37}, {'connected_gene': 'PIR33798', 'score': 0.39}, {'connected_gene': 'PIR32942', 'score': 0.39}, {'connected_gene': 'P3H4', 'score': 0.39}]
chr17 GH17I040908 40908603 40917347 1.68 [{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17 GH17I041544 41544276 41545342 0.8 [{'connected_gene': 'LINC00974', 'score': 0.44}, {'connected_gene': 'GC17M041544', 'score': 0.39}, {'connected_gene': 'KRT19', 'score': 0.37}]
chr17 GH17I041519 41518249 41518398 0.58 [{'connected_gene': 'MIR6510', 'score': 550.77}, {'connected_gene': 'KRT19', 'score': 8.88}, {'connected_gene': 'KRT15', 'score': 0.77}]
chr17 GH17I041534 41534567 41539918 1.26 [{'connected_gene': 'ENSG00000267758', 'score': 13.96}, {'connected_gene': 'SMARCE1', 'score': 12.9}, {'connected_gene': 'KRT36', 'score': 10.58}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'KRT35', 'score': 10.53}, {'connected_gene': 'GHDC', 'score': 10.37}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KRT31', 'score': 9.85}, {'connected_gene': 'LOC100505782', 'score': 9.85}, {'connected_gene': 'KRT19', 'score': 6.56}, {'connected_gene': 'KRTAP2-1', 'score': 6.27}, {'connected_gene': 'KRTAP2-2', 'score': 4.82}, {'connected_gene': 'KRTAP9-1', 'score': 4.79}, {'connected_gene': 'KRTAP9-2', 'score': 4.34}, {'connected_gene': 'KRTAP9-9', 'score': 4.24}, {'connected_gene': 'KRT37', 'score': 1.9}, {'connected_gene': 'LINC00974', 'score': 0.37}]
chr17 GH17I041621 41620689 41620838 0.38 [{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'KRT17', 'score': 0.77}, {'connected_gene': 'KRT16', 'score': 0.77}]
chr17 GH17I041622 41620349 41620538 0.38 [{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'KRT17', 'score': 0.77}, {'connected_gene': 'KRT16', 'score': 0.77}]
chr17 GH17I041618 41618489 41619648 0.56 [{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'ENSG00000259623', 'score': 12.34}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'HSD17B1P1', 'score': 9.91}, {'connected_gene': 'KRT16', 'score': 7.11}, {'connected_gene': 'KRT17', 'score': 0.44}]
chr17 GH17I041649 41649756 41659535 1.64 [{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]

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