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
ENST00000371370 [[54411749, 54412222], [54413460, 54413494], [54417658, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433841]] [[54417672, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433612]]
ENST00000371368 [[54411757, 54411783], [54412121, 54412222], [54413534, 54413654], [54417658, 54418145], [54423821, 54423925]] [[54417672, 54418145], [54423821, 54423925]]
ENST00000319223 [[54412025, 54412222], [54417658, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433841]] [[54417672, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433612]]
ENST00000444987 [[54412030, 54412222], [54413534, 54413654], [54417658, 54418145], [54423821, 54423953], [54426028, 54426141]] [[54417672, 54418145], [54423821, 54423953], [54426028, 54426141]]
ENST00000477905 [[54427625, 54428082], [54431968, 54432053], [54433337, 54433406]] None
NM_052940 [[54411998, 54412222], [54417658, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433841]] [[54417672, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433612]]
NM_001256409 [[54411998, 54412222], [54413460, 54413494], [54417658, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433841]] [[54417672, 54418145], [54423821, 54423953], [54426028, 54426147], [54427706, 54427795], [54427968, 54428082], [54431968, 54432053], [54433337, 54433612]]
Promoter
Chrom Start End Description
chr1 54411715 54411760 CAGE_peak_3_at_LRRC42_5end
chr1 54411995 54412063 CAGE_peak_1_at_LRRC42_5end
chr1 54412072 54412133 CAGE_peak_2_at_LRRC42_5end
chr1 54417667 54417685 CAGE_peak_9_at_LRRC42_5end
chr1 54417689 54417696 CAGE_peak_12_at_LRRC42_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I053324 53324026 53328642 2.25 [{'connected_gene': 'LRP8', 'score': 556.28}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 23.78}, {'connected_gene': 'PRPF38A', 'score': 11.76}, {'connected_gene': 'RPS13P2', 'score': 11.24}, {'connected_gene': 'LRRC42', 'score': 10.9}, {'connected_gene': 'SSBP3-AS1', 'score': 10.84}, {'connected_gene': 'GPX7', 'score': 10.45}, {'connected_gene': 'C1orf123', 'score': 4.86}, {'connected_gene': 'GC01M053305', 'score': 0.37}]
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 GH01I053434 53434182 53436135 0.4 [{'connected_gene': 'DMRTB1', 'score': 15.61}, {'connected_gene': 'RNU7-95P', 'score': 10.41}, {'connected_gene': 'SLC25A3P1', 'score': 7.36}, {'connected_gene': 'LRRC42', 'score': 5.16}, {'connected_gene': 'LOC105378733', 'score': 0.77}, {'connected_gene': 'ENSG00000230138', 'score': 0.2}]
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 GH01I052955 52955130 52956138 0.94 [{'connected_gene': 'MAGOH', 'score': 21.05}, {'connected_gene': 'ZCCHC11', 'score': 14.9}, {'connected_gene': 'LRRC42', 'score': 11.65}, {'connected_gene': 'HSPB11', 'score': 10.64}, {'connected_gene': 'PODN', 'score': 10.51}, {'connected_gene': 'PRPF38A', 'score': 10.09}, {'connected_gene': 'ENSG00000272100', 'score': 10.07}, {'connected_gene': 'ENSG00000237279', 'score': 0.39}, {'connected_gene': 'SCP2', 'score': 0.31}, {'connected_gene': 'LOC100133211', 'score': 0.28}]
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 GH01I054047 54047201 54047400 0.64 [{'connected_gene': 'LDLRAD1', 'score': 11.19}, {'connected_gene': 'LRRC42', 'score': 10.26}, {'connected_gene': 'HSPB11', 'score': 10.26}, {'connected_gene': 'TMEM59', 'score': 0.44}, {'connected_gene': 'ENSG00000280378', 'score': 0.39}]
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 GH01I054081 54081600 54081897 1.05 [{'connected_gene': 'TCEANC2', 'score': 39.63}, {'connected_gene': 'TMEM59', 'score': 11.88}, {'connected_gene': 'CDCP2', 'score': 11.15}, {'connected_gene': 'LDLRAD1', 'score': 10.25}, {'connected_gene': 'LRRC42', 'score': 9.75}, {'connected_gene': 'HSPB11', 'score': 9.75}, {'connected_gene': 'SSBP3-AS1', 'score': 9.64}, {'connected_gene': 'GC01P054077', 'score': 0.77}, {'connected_gene': 'LOC100507586', 'score': 0.44}]
chr1 GH01I054027 54027488 54029820 0.67 [{'connected_gene': 'TCEANC2', 'score': 30.48}, {'connected_gene': 'TMEM59', 'score': 11.32}, {'connected_gene': 'LRRC42', 'score': 10.78}, {'connected_gene': 'HSPB11', 'score': 10.78}, {'connected_gene': 'GC01P054026', 'score': 0.77}, {'connected_gene': 'ENSG00000280378', 'score': 0.44}]
chr1 GH01I053981 53981801 53983417 1.06 [{'connected_gene': 'TCEANC2', 'score': 18.24}, {'connected_gene': 'LRRC42', 'score': 11.76}, {'connected_gene': 'HSPB11', 'score': 11.76}, {'connected_gene': 'LDLRAD1', 'score': 11.7}, {'connected_gene': 'DIO1', 'score': 11.06}, {'connected_gene': 'YIPF1', 'score': 11.06}, {'connected_gene': 'TMEM59', 'score': 10.5}, {'connected_gene': 'HNRNPA3P12', 'score': 0.44}, {'connected_gene': 'GC01P054015', 'score': 0.29}]
chr1 GH01I053955 53955940 53958400 1.01 [{'connected_gene': 'TCEANC2', 'score': 9.26}, {'connected_gene': 'PIR61748', 'score': 0.77}, {'connected_gene': 'GC01M053954', 'score': 0.77}, {'connected_gene': 'LRRC42', 'score': 0.39}, {'connected_gene': 'GC01M053970', 'score': 0.39}]
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 GH01I053860 53860988 53861137 0.69 [{'connected_gene': 'LRRC42', 'score': 11.94}, {'connected_gene': 'HSPB11', 'score': 11.94}, {'connected_gene': 'YIPF1', 'score': 11.58}, {'connected_gene': 'DIO1', 'score': 11.56}, {'connected_gene': 'RPL37P7', 'score': 0.37}, {'connected_gene': 'GC01P053890', 'score': 0.31}]
chr1 GH01I053949 53949148 53949297 0.62 [{'connected_gene': 'LRRC42', 'score': 0.77}, {'connected_gene': 'PIR61748', 'score': 0.77}, {'connected_gene': 'HSPB11', 'score': 0.77}, {'connected_gene': 'GC01M053954', 'score': 0.77}]
chr1 GH01I053889 53889000 53890988 2.05 [{'connected_gene': 'DIO1', 'score': 565.53}, {'connected_gene': 'YIPF1', 'score': 555.86}, {'connected_gene': 'GC01P053890', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 24.54}, {'connected_gene': 'SSBP3-AS1', 'score': 20.84}, {'connected_gene': 'ENSG00000279049', 'score': 11.25}, {'connected_gene': 'LRRC42', 'score': 11.09}, {'connected_gene': 'HSPB11', 'score': 10.83}, {'connected_gene': 'CYB5RL', 'score': 10.46}, {'connected_gene': 'ENSG00000230953', 'score': 10.31}]
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 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 GH01I054882 54882271 54890116 2.29 [{'connected_gene': 'ENSG00000233203', 'score': 564.79}, {'connected_gene': 'DHCR24', 'score': 562.33}, {'connected_gene': 'ENSG00000242396', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 23.2}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TMEM61', 'score': 10.71}, {'connected_gene': 'TTC22', 'score': 10.62}, {'connected_gene': 'PARS2', 'score': 10.52}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'ENSG00000237453', 'score': 10.04}, {'connected_gene': 'TTC4', 'score': 9.99}, {'connected_gene': 'LEXM', 'score': 5.27}, {'connected_gene': 'PIR36544', 'score': 0.39}]
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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