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
ENST00000167586 [[39738530, 39738784], [39739345, 39739392], [39739486, 39739707], [39739802, 39739928], [39740011, 39740173], [39740508, 39740665], [39741226, 39741309], [39742561, 39743173]] [[39738686, 39738784], [39739345, 39739392], [39739486, 39739707], [39739802, 39739928], [39740011, 39740173], [39740508, 39740665], [39741226, 39741309], [39742561, 39743086]]
ENST00000441550 [[39738560, 39739392], [39739486, 39739707]] None
ENST00000476662 [[39739500, 39739707], [39739802, 39739928], [39740011, 39740173], [39740508, 39740723]] None
NM_000526 [[39738530, 39738784], [39739345, 39739392], [39739486, 39739707], [39739802, 39739928], [39740011, 39740173], [39740508, 39740665], [39741226, 39741309], [39742561, 39743147]] [[39738686, 39738784], [39739345, 39739392], [39739486, 39739707], [39739802, 39739928], [39740011, 39740173], [39740508, 39740665], [39741226, 39741309], [39742561, 39743086]]
Promoter
Chrom Start End Description
chr17 39739641 39739684 CAGE_peak_5_at_KRT14_5end
chr17 39740112 39740148 CAGE_peak_4_at_KRT14_5end
chr17 39740615 39740628 CAGE_peak_7_at_KRT14_5end
chr17 39740629 39740632 CAGE_peak_9_at_KRT14_5end
chr17 39740633 39740663 CAGE_peak_3_at_KRT14_5end
chr17 39742930 39742950 CAGE_peak_2_at_KRT14_5end
chr17 39743139 39743155 CAGE_peak_1_at_KRT14_5end
chr17 39743195 39743199 CAGE_peak_8_at_KRT14_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 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 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 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 GH17I041612 41612506 41613526 1.09 [{'connected_gene': 'KRT16', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 0.31}]
chr17 GH17I041615 41615549 41615698 0.54 [{'connected_gene': 'KRT16', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 0.31}]
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 GH17I041631 41631018 41632265 0.43 [{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17 GH17I041629 41629992 41630826 0.59 [{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.09}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17 GH17I041634 41634540 41636124 1.05 [{'connected_gene': 'KRT14', 'score': 11.18}, {'connected_gene': 'KRT42P', 'score': 0.77}, {'connected_gene': 'KRT17', 'score': 0.39}]
chr17 GH17I041572 41572049 41572108 0.76 [{'connected_gene': 'KRT9', 'score': 550.77}, {'connected_gene': 'KRT16', 'score': 6.03}, {'connected_gene': 'KRT14', '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 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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