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
ENST00000284382 [[100940599, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084855, 101084925]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
ENST00000538112 [[100942715, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084328, 101084476]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
ENST00000394113 [[100942715, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101043914, 101044053], [101061871, 101061961], [101069017, 101069280], [101084420, 101084618]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
ENST00000560944 [[100942715, 100943070], [101085107, 101085200]] None
ENST00000558884 [[101019660, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084420, 101084498]] [[101019660, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
ENST00000559023 [[101040452, 101040709], [101041881, 101042055], [101061871, 101061961], [101069017, 101069470]] None
ENST00000559639 [[101042008, 101042055], [101043914, 101044053], [101061871, 101061961], [101084328, 101084484]] None
ENST00000560348 [[101016041, 101016383], [101019632, 101019701]] None
NM_001290342 [[100940599, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084328, 101084491]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
NM_001290341 [[100940599, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101043914, 101044053], [101061871, 101061961], [101069017, 101069280], [101084420, 101084618]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101043914, 101043946]]
NM_001290343 [[100940599, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084851, 101084925]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
NM_178842 [[100940599, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136], [101041881, 101042055], [101061871, 101061961], [101069017, 101069280], [101084855, 101084925]] [[100942917, 100943070], [100996097, 100996251], [101009582, 101009689], [101013128, 101013257], [101016290, 101016383], [101019632, 101019683], [101020193, 101020251], [101024754, 101024873], [101031021, 101031136]]
Promoter
Chrom Start End Description
chr15 101069102 101069112 CAGE_peak_2_at_CERS3_5end
chr15 101069113 101069169 CAGE_peak_1_at_CERS3_5end
chr15 101069186 101069200 CAGE_peak_4_at_CERS3_5end
chr15 101069325 101069330 CAGE_peak_7_at_CERS3_5end
chr15 101069375 101069384 CAGE_peak_5_at_CERS3_5end
chr15 101084446 101084488 CAGE_peak_3_at_CERS3_5end
chr15 101084547 101084553 CAGE_peak_9_at_CERS3_5end
chr15 101084881 101084893 CAGE_peak_8_at_CERS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I100537 100537456 100537605 0.43 [{'connected_gene': 'PRKXP1', 'score': 5.17}, {'connected_gene': 'CERS3', 'score': 0.44}, {'connected_gene': 'CERS3-AS1', 'score': 0.1}]
chr15 GH15I100525 100525670 100526446 0.57 [{'connected_gene': 'SPATA41', 'score': 7.75}, {'connected_gene': 'CERS3-AS1', 'score': 6.67}, {'connected_gene': 'CERS3', 'score': 0.37}]
chr15 GH15I100769 100769539 100773510 0.38 [{'connected_gene': 'ALDH1A3', 'score': 10.29}, {'connected_gene': 'CERS3', 'score': 4.92}, {'connected_gene': 'GC15M100763', 'score': 0.44}, {'connected_gene': 'ENSG00000279588', 'score': 0.39}, {'connected_gene': 'GC15P100752', 'score': 0.37}, {'connected_gene': 'LOC105371024', 'score': 0.22}]
chr15 GH15I100520 100520001 100521400 0.46 [{'connected_gene': 'CERS3', 'score': 11.93}, {'connected_gene': 'CERS3-AS1', 'score': 0.11}]
chr15 GH15I100438 100438601 100438845 0.74 [{'connected_gene': 'CERS3', 'score': 10.52}, {'connected_gene': 'CERS3-AS1', 'score': 9.1}]
chr15 GH15I100544 100544487 100544546 0.5 [{'connected_gene': 'CERS3', 'score': 550.77}, {'connected_gene': 'CERS3-AS1', 'score': 0.09}]
chr15 GH15I100546 100544269 100544328 0.5 [{'connected_gene': 'CERS3', 'score': 550.77}, {'connected_gene': 'CERS3-AS1', 'score': 0.09}]
chr15 GH15I100545 100544673 100544732 0.5 [{'connected_gene': 'CERS3', 'score': 550.77}, {'connected_gene': 'CERS3-AS1', 'score': 0.09}]
chr15 GH15I100528 100528907 100528966 0.5 [{'connected_gene': 'CERS3', 'score': 550.37}, {'connected_gene': 'CERS3-AS1', 'score': 0.1}]
chr15 GH15I100516 100516717 100518200 0.92 [{'connected_gene': 'CERS3', 'score': 16.28}, {'connected_gene': 'CERS3-AS1', 'score': 0.11}]
chr15 GH15I100500 100500217 100500848 0.31 [{'connected_gene': 'CERS3', 'score': 10.82}, {'connected_gene': 'ENSG00000270127', 'score': 5.24}, {'connected_gene': 'CERS3-AS1', 'score': 0.13}]
chr15 GH15I100439 100439676 100439825 0.2 [{'connected_gene': 'CERS3-AS1', 'score': 0.2}, {'connected_gene': 'CERS3', 'score': 0.14}]
chr15 GH15I100434 100434716 100434865 0.31 [{'connected_gene': 'CERS3-AS1', 'score': 9.12}, {'connected_gene': 'CERS3', 'score': 0.14}]
chr15 GH15I100374 100374078 100374322 0.33 [{'connected_gene': 'CERS3-AS1', 'score': 550.77}, {'connected_gene': 'ADAMTS17', 'score': 2.14}, {'connected_gene': 'CERS3', 'score': 0.09}]
chr15 GH15I100569 100569050 100574630 0.62 [{'connected_gene': 'ENSG00000270127', 'score': 76.88}, {'connected_gene': 'LINS1', 'score': 24.92}, {'connected_gene': 'CERS3', 'score': 17.48}, {'connected_gene': 'PRKXP1', 'score': 11.74}, {'connected_gene': 'ASB7', 'score': 10.81}, {'connected_gene': 'PIR58933', 'score': 0.44}]

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