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
ENST00000371429 [[54231132, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54304533]] [[54233642, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54303934]]
ENST00000540001 [[54231135, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54262420, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54304225]] [[54252891, 54252931], [54254805, 54254869], [54262420, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54303934]]
ENST00000537333 [[54233309, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54303877, 54303940]] [[54233642, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269661]]
ENST00000234725 [[54233562, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54303877, 54303969]] [[54233642, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293781]]
ENST00000480952 [[54284642, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54303877, 54304136]] None
NM_018087 [[54231132, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54304225]] [[54233642, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54301172, 54301293], [54303877, 54303934]]
NM_001168551 [[54231132, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293726], [54298162, 54298264], [54301172, 54301293], [54303877, 54304225]] [[54233642, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293726], [54298162, 54298264], [54301172, 54301293], [54303877, 54303934]]
NR_033142 [[54231132, 54233706], [54238001, 54238162], [54252830, 54252931], [54254805, 54254869], [54258901, 54258952], [54262361, 54262477], [54262571, 54262817], [54266365, 54266521], [54269600, 54269682], [54272097, 54272190], [54273328, 54273464], [54275367, 54275419], [54284643, 54284752], [54291470, 54291609], [54293671, 54293846], [54298162, 54298264], [54303877, 54304225]] None
Promoter
Chrom Start End Description
chr1 54303934 54303945 CAGE_peak_4_at_TMEM48_5end
chr1 54303949 54303979 CAGE_peak_1_at_TMEM48_5end
chr1 54304114 54304130 CAGE_peak_5_at_TMEM48_5end
chr1 54304142 54304204 CAGE_peak_2_at_TMEM48_5end
chr1 54304212 54304255 CAGE_peak_3_at_TMEM48_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I054715 54715067 54717241 2.1 [{'connected_gene': 'TTC4', 'score': 581.73}, {'connected_gene': 'LRRC42', 'score': 11.1}, {'connected_gene': 'TTC22', 'score': 10.96}, {'connected_gene': 'ENSG00000237453', 'score': 10.93}, {'connected_gene': 'HSPB11', 'score': 10.64}, {'connected_gene': 'NDC1', 'score': 9.69}, {'connected_gene': 'MROH7', 'score': 9.58}, {'connected_gene': 'PIR47125', 'score': 0.26}, {'connected_gene': 'MROH7-TTC4', 'score': 0.19}]
chr1 GH01I053046 53046789 53048747 1.07 [{'connected_gene': 'SLC1A7', 'score': 7.45}, {'connected_gene': 'ECHDC2', 'score': 6.84}, {'connected_gene': 'NDC1', 'score': 5.21}, {'connected_gene': 'SCP2', 'score': 4.94}, {'connected_gene': 'HSPB11', 'score': 4.21}, {'connected_gene': 'GC01P053051', 'score': 0.77}, {'connected_gene': 'GC01P053008', 'score': 0.28}]
chr1 GH01I054341 54341452 54343681 0.77 [{'connected_gene': 'SSBP3-AS1', 'score': 23.06}, {'connected_gene': 'NDC1', 'score': 9.9}, {'connected_gene': 'GC01M054384', 'score': 0.26}, {'connected_gene': 'ENSG00000225632', 'score': 0.22}, {'connected_gene': 'SSBP3', 'score': 0.19}]
chr1 GH01I054271 54271249 54281833 1.65 [{'connected_gene': 'SSBP3-AS1', 'score': 27.5}, {'connected_gene': 'ENSG00000256407', 'score': 18.27}, {'connected_gene': 'SSBP3', 'score': 15.21}, {'connected_gene': 'TMEM59', 'score': 15.09}, {'connected_gene': 'HSPB11', 'score': 13.05}, {'connected_gene': 'CYB5RL', 'score': 10.47}, {'connected_gene': 'NDC1', 'score': 10.44}, {'connected_gene': 'TCEANC2', 'score': 10.0}, {'connected_gene': 'ENSG00000237453', 'score': 9.97}, {'connected_gene': 'TTC22', 'score': 9.97}, {'connected_gene': 'ENSG00000225632', 'score': 0.44}, {'connected_gene': 'GC01P054263', 'score': 0.39}]
chr1 GH01I054198 54198820 54201714 2.03 [{'connected_gene': 'CYB5RL', 'score': 563.93}, {'connected_gene': 'ENSG00000256407', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 550.37}, {'connected_gene': 'MAGOH', 'score': 33.72}, {'connected_gene': 'NDC1', 'score': 13.04}, {'connected_gene': 'LRRC42', 'score': 10.06}, {'connected_gene': 'PIR51493', 'score': 0.37}]
chr1 GH01I054615 54615228 54616108 0.54 [{'connected_gene': 'NDC1', 'score': 13.01}, {'connected_gene': 'SSBP3-AS1', 'score': 12.25}, {'connected_gene': 'MROH7', 'score': 12.14}, {'connected_gene': 'PARS2', 'score': 10.5}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'FAM151A', 'score': 0.44}, {'connected_gene': 'ACOT11', 'score': 0.19}]
chr1 GH01I053835 53835064 53839200 2.12 [{'connected_gene': 'NDC1', 'score': 563.15}, {'connected_gene': 'MAGOH', 'score': 45.35}, {'connected_gene': 'SSBP3-AS1', 'score': 36.53}, {'connected_gene': 'HSPB11', 'score': 33.21}, {'connected_gene': 'LRRC42', 'score': 21.47}, {'connected_gene': 'ECHDC2', 'score': 18.27}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'ENSG00000279049', 'score': 9.9}, {'connected_gene': 'ENSG00000230953', 'score': 9.82}, {'connected_gene': 'TTC4', 'score': 9.72}, {'connected_gene': 'TMEM59', 'score': 9.67}, {'connected_gene': 'TCEANC2', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.09}, {'connected_gene': 'TTC22', 'score': 9.09}, {'connected_gene': 'YIPF1', 'score': 6.06}, {'connected_gene': 'LRP8', 'score': 4.73}, {'connected_gene': 'ENSG00000201003', 'score': 0.2}, {'connected_gene': 'GC01M053772', 'score': 0.2}]
chr1 GH01I054474 54474289 54478124 1.52 [{'connected_gene': 'NDC1', 'score': 24.03}, {'connected_gene': 'LRRC42', 'score': 19.87}, {'connected_gene': 'SSBP3-AS1', 'score': 19.04}, {'connected_gene': 'SSBP3', 'score': 2.77}, {'connected_gene': 'TCEANC2', 'score': 1.26}, {'connected_gene': 'LOC105378735', 'score': 0.28}, {'connected_gene': 'ENSG00000232245', 'score': 0.22}]
chr1 GH01I053942 53942619 53948005 2.08 [{'connected_gene': 'HSPB11', 'score': 573.55}, {'connected_gene': 'LRRC42', 'score': 570.11}, {'connected_gene': 'MAGOH', 'score': 48.5}, {'connected_gene': 'SSBP3-AS1', 'score': 43.34}, {'connected_gene': 'NDC1', 'score': 31.84}, {'connected_gene': 'CYB5RL', 'score': 10.95}, {'connected_gene': 'PARS2', 'score': 10.42}, {'connected_gene': 'TTC4', 'score': 9.92}, {'connected_gene': 'TCEANC2', 'score': 9.28}, {'connected_gene': 'GC01P053939', 'score': 0.44}]
chr1 GH01I053918 53918492 53919545 0.75 [{'connected_gene': 'HSPB11', 'score': 22.51}, {'connected_gene': 'LRRC42', 'score': 12.45}, {'connected_gene': 'DIO1', 'score': 12.38}, {'connected_gene': 'YIPF1', 'score': 12.38}, {'connected_gene': 'RPL37P7', 'score': 10.71}, {'connected_gene': 'NDC1', 'score': 10.71}, {'connected_gene': 'LDLRAD1', 'score': 10.02}, {'connected_gene': 'RNU7-95P', 'score': 8.74}, {'connected_gene': 'GC01P053910', 'score': 0.44}, {'connected_gene': 'GC01P053939', 'score': 0.34}]
chr1 GH01I053132 53132129 53136578 1.16 [{'connected_gene': 'MAGOH', 'score': 28.93}, {'connected_gene': 'NDC1', 'score': 22.67}, {'connected_gene': 'ENSG00000230953', 'score': 20.77}, {'connected_gene': 'PODN', 'score': 19.44}, {'connected_gene': 'SLC1A7', 'score': 15.93}, {'connected_gene': 'LRRC42', 'score': 11.01}, {'connected_gene': 'ZCCHC11', 'score': 10.3}, {'connected_gene': 'RPS13P2', 'score': 10.3}, {'connected_gene': 'ECHDC2', 'score': 9.97}, {'connected_gene': 'PLA2G12AP1', 'score': 4.1}, {'connected_gene': 'GC01P053132', 'score': 0.77}]
chr1 GH01I053502 53502728 53502857 0.8 [{'connected_gene': 'MAGOH', 'score': 13.05}, {'connected_gene': 'GPX7', 'score': 12.41}, {'connected_gene': 'LRRC42', 'score': 11.11}, {'connected_gene': 'NDC1', 'score': 9.72}, {'connected_gene': 'DMRTB1', 'score': 0.26}, {'connected_gene': 'PIR60882', 'score': 0.19}]
chr1 GH01I053237 53237598 53239598 2.32 [{'connected_gene': 'MAGOH', 'score': 574.79}, {'connected_gene': 'LOC100507564', 'score': 550.77}, {'connected_gene': 'C1orf123', 'score': 28.65}, {'connected_gene': 'NDC1', 'score': 22.26}, {'connected_gene': 'CYB5RL', 'score': 21.53}, {'connected_gene': 'ZCCHC11', 'score': 20.71}, {'connected_gene': 'ENSG00000230953', 'score': 20.41}, {'connected_gene': 'SSBP3-AS1', 'score': 13.69}, {'connected_gene': 'ENSG00000236723', 'score': 11.51}, {'connected_gene': 'LRP8', 'score': 10.66}, {'connected_gene': 'LINC01771', 'score': 10.66}, {'connected_gene': 'LRRC42', 'score': 10.02}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'ENSG00000256407', 'score': 9.8}, {'connected_gene': 'PIR31553', 'score': 0.37}]
chr1 GH01I054763 54763486 54765366 2.04 [{'connected_gene': 'PARS2', 'score': 561.49}, {'connected_gene': 'NDC1', 'score': 12.4}, {'connected_gene': 'LRRC42', 'score': 10.59}, {'connected_gene': 'SSBP3-AS1', 'score': 10.4}, {'connected_gene': 'TTC4', 'score': 5.33}, {'connected_gene': 'PIR47125', 'score': 0.44}]
chr1 GH01I053765 53765278 53767582 0.82 [{'connected_gene': 'GLIS1', 'score': 10.2}, {'connected_gene': 'NDC1', 'score': 9.91}, {'connected_gene': 'RPL37P7', 'score': 9.9}, {'connected_gene': 'LRRC42', 'score': 9.58}, {'connected_gene': 'HSPB11', 'score': 9.58}, {'connected_gene': 'YIPF1', 'score': 4.92}, {'connected_gene': 'ENSG00000201003', 'score': 0.77}, {'connected_gene': 'GC01M053772', 'score': 0.77}]
chr1 GH01I053807 53807742 53808471 0.63 [{'connected_gene': 'GLIS1', 'score': 10.5}, {'connected_gene': 'NDC1', 'score': 0.29}, {'connected_gene': 'ENSG00000201003', 'score': 0.28}, {'connected_gene': 'GC01M053772', 'score': 0.28}]
chr1 GH01I053106 53106829 53113646 1.37 [{'connected_gene': 'PODN', 'score': 11.26}, {'connected_gene': 'NDC1', 'score': 10.42}, {'connected_gene': 'ENSG00000235563', 'score': 9.51}, {'connected_gene': 'SLC1A7', 'score': 6.33}, {'connected_gene': 'GC01M053112', 'score': 0.44}, {'connected_gene': 'ENSG00000232993', 'score': 0.34}]
chr1 GH01I053060 53060844 53061928 0.46 [{'connected_gene': 'PODN', 'score': 550.77}, {'connected_gene': 'SCP2', 'score': 6.58}, {'connected_gene': 'NDC1', 'score': 4.71}, {'connected_gene': 'GC01P053051', 'score': 0.44}]
chr1 GH01I054051 54051327 54054981 2.12 [{'connected_gene': 'TCEANC2', 'score': 579.34}, {'connected_gene': 'MIR4781', 'score': 550.77}, {'connected_gene': 'TMEM59', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 67.4}, {'connected_gene': 'NDC1', 'score': 49.19}, {'connected_gene': 'SSBP3-AS1', 'score': 43.88}, {'connected_gene': 'HSPB11', 'score': 33.76}, {'connected_gene': 'LRRC42', 'score': 29.83}, {'connected_gene': 'PARS2', 'score': 19.95}, {'connected_gene': 'CYB5RL', 'score': 19.87}, {'connected_gene': 'ENSG00000256407', 'score': 12.85}, {'connected_gene': 'ENSG00000279049', 'score': 11.42}, {'connected_gene': 'C1orf123', 'score': 11.16}, {'connected_gene': 'LDLRAD1', 'score': 10.5}, {'connected_gene': 'PODN', 'score': 10.39}, {'connected_gene': 'RPL37P7', 'score': 9.71}, {'connected_gene': 'ENSG00000280378', 'score': 0.37}]
chr1 GH01I053811 53811233 53812073 0.75 [{'connected_gene': 'RNU7-95P', 'score': 9.79}, {'connected_gene': 'NDC1', 'score': 0.31}, {'connected_gene': 'ENSG00000201003', 'score': 0.26}, {'connected_gene': 'GC01M053772', 'score': 0.26}]
chr1 GH01I053820 53820565 53820728 0.26 [{'connected_gene': 'RPL37P7', 'score': 12.13}, {'connected_gene': 'LRRC42', 'score': 10.23}, {'connected_gene': 'HSPB11', 'score': 10.23}, {'connected_gene': 'NDC1', 'score': 0.37}, {'connected_gene': 'ENSG00000201003', 'score': 0.25}, {'connected_gene': 'GC01M053772', 'score': 0.25}]
chr1 GH01I053126 53126956 53128422 0.38 [{'connected_gene': 'GC01M053129', 'score': 550.77}, {'connected_gene': 'PIR62066', 'score': 550.77}, {'connected_gene': 'PIR50446', 'score': 550.77}, {'connected_gene': 'PIR53839', 'score': 550.77}, {'connected_gene': 'GC01M053130', 'score': 550.77}, {'connected_gene': 'SLC1A7', 'score': 12.67}, {'connected_gene': 'NDC1', 'score': 10.42}, {'connected_gene': 'HNRNPA3P12', 'score': 4.75}]
chr1 GH01I054134 54134877 54138671 0.87 [{'connected_gene': 'ENSG00000280425', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 20.39}, {'connected_gene': 'MAGOH', 'score': 16.07}, {'connected_gene': 'NDC1', 'score': 13.47}, {'connected_gene': 'LRRC42', 'score': 11.07}, {'connected_gene': 'ENSG00000256407', 'score': 10.9}, {'connected_gene': 'TCEANC2', 'score': 10.12}, {'connected_gene': 'TMEM59', 'score': 10.12}, {'connected_gene': 'ENSG00000237453', 'score': 9.34}, {'connected_gene': 'TTC22', 'score': 9.34}, {'connected_gene': 'CDCP2', 'score': 0.37}, {'connected_gene': 'ENSG00000279049', 'score': 0.28}]
chr1 GH01I054417 54417201 54417400 0.65 [{'connected_gene': 'ENSG00000232245', 'score': 550.77}, {'connected_gene': 'NDC1', 'score': 13.44}, {'connected_gene': 'LRRC42', 'score': 11.03}, {'connected_gene': 'SSBP3-AS1', 'score': 10.38}, {'connected_gene': 'LOC105378735', 'score': 0.15}]
chr1 GH01I053910 53910048 53910197 0.69 [{'connected_gene': 'GC01P053910', 'score': 550.77}, {'connected_gene': 'YIPF1', 'score': 13.23}, {'connected_gene': 'LRRC42', 'score': 11.67}, {'connected_gene': 'HSPB11', 'score': 11.67}, {'connected_gene': 'RPL37P7', 'score': 10.95}, {'connected_gene': 'NDC1', 'score': 10.94}, {'connected_gene': 'LDLRAD1', 'score': 10.3}, {'connected_gene': 'TCEANC2', 'score': 9.84}, {'connected_gene': 'TMEM59', 'score': 9.84}, {'connected_gene': 'RNU7-95P', 'score': 8.6}, {'connected_gene': 'DIO1', 'score': 0.37}]
chr1 GH01I053971 53971471 53972549 0.2 [{'connected_gene': 'GC01M053970', 'score': 550.77}, {'connected_gene': 'LRRC42', 'score': 12.8}, {'connected_gene': 'HSPB11', 'score': 12.8}, {'connected_gene': 'LDLRAD1', 'score': 11.83}, {'connected_gene': 'NDC1', 'score': 11.06}, {'connected_gene': 'RPL37P7', 'score': 11.06}, {'connected_gene': 'DIO1', 'score': 11.01}, {'connected_gene': 'YIPF1', 'score': 11.01}, {'connected_gene': 'TCEANC2', 'score': 8.59}, {'connected_gene': 'HNRNPA3P12', 'score': 0.77}]

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