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
ENST00000371378 [[54382246, 54382789], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405770], [54411227, 54411245]] [[54382462, 54382789], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405755]]
ENST00000194214 [[54387233, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405770], [54411227, 54411602]] [[54387323, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405755]]
ENST00000371377 [[54389205, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405770], [54411227, 54411283]] [[54389555, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405755]]
ENST00000489675 [[54387234, 54387440], [54389576, 54389620], [54394044, 54394673]] None
ENST00000371376 [[54395169, 54395818], [54405657, 54405773]] [[54395691, 54395818], [54405657, 54405755]]
ENST00000488884 [[54405355, 54405770], [54411227, 54411275]] None
NR_133633 [[54387233, 54387440], [54389576, 54389620], [54394044, 54394113], [54395518, 54395616], [54395711, 54395818], [54405657, 54405770], [54411227, 54411496]] None
NM_016126 [[54387233, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405770], [54411227, 54411496]] [[54387323, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405755]]
NR_133632 [[54387233, 54387440], [54389576, 54389620], [54405657, 54405770], [54411227, 54411496]] None
NM_001316935 [[54387233, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405770], [54411909, 54411981]] [[54387323, 54387440], [54389576, 54389620], [54394044, 54394113], [54395711, 54395818], [54405657, 54405755]]
Promoter
Chrom Start End Description
chr1 54405829 54405874 CAGE_peak_7_at_HSPB11_5end
chr1 54405880 54405889 CAGE_peak_11_at_HSPB11_5end
chr1 54411240 54411253 CAGE_peak_4_at_HSPB11_5end
chr1 54411255 54411290 CAGE_peak_2_at_HSPB11_5end
chr1 54411299 54411309 CAGE_peak_5_at_HSPB11_5end
chr1 54411332 54411393 CAGE_peak_1_at_HSPB11_5end
chr1 54411941 54411992 CAGE_peak_3_at_HSPB11_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 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 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 GH01I054284 54284801 54292283 1.34 [{'connected_gene': 'HSPB11', 'score': 13.05}, {'connected_gene': 'SSBP3-AS1', 'score': 10.92}, {'connected_gene': 'ENSG00000256407', 'score': 10.01}, {'connected_gene': 'TCEANC2', 'score': 9.74}, {'connected_gene': 'TMEM59', 'score': 9.74}, {'connected_gene': 'ENSG00000225632', 'score': 0.77}, {'connected_gene': 'GC01P054263', 'score': 0.31}, {'connected_gene': 'GC01M054384', 'score': 0.15}, {'connected_gene': 'SSBP3', 'score': 0.13}]
chr1 GH01I054577 54577248 54578400 1.09 [{'connected_gene': 'HSPB11', 'score': 13.47}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'SSBP3-AS1', 'score': 10.74}, {'connected_gene': 'ACOT11', 'score': 0.28}, {'connected_gene': 'FAM151A', 'score': 0.25}]
chr1 GH01I054781 54781198 54781943 0.46 [{'connected_gene': 'HSPB11', 'score': 13.02}, {'connected_gene': 'ENSG00000256407', 'score': 9.87}, {'connected_gene': 'GC01P054790', 'score': 0.44}, {'connected_gene': 'PIR50014', 'score': 0.44}, {'connected_gene': 'PIR33324', 'score': 0.44}, {'connected_gene': 'GC01P054773', 'score': 0.44}, {'connected_gene': 'TTC22', 'score': 0.34}]
chr1 GH01I054375 54375162 54380957 1.39 [{'connected_gene': 'HSPB11', 'score': 13.04}, {'connected_gene': 'SSBP3', 'score': 11.5}, {'connected_gene': 'ENSG00000225632', 'score': 11.39}, {'connected_gene': 'TALDO1P1', 'score': 10.59}, {'connected_gene': 'SSBP3-AS1', 'score': 10.4}, {'connected_gene': 'TCEANC2', 'score': 10.06}, {'connected_gene': 'TMEM59', 'score': 10.06}, {'connected_gene': 'MROH7', 'score': 10.04}, {'connected_gene': 'ENSG00000256407', 'score': 9.94}, {'connected_gene': 'GC01M054384', 'score': 0.44}]
chr1 GH01I054309 54309601 54315464 1.45 [{'connected_gene': 'HSPB11', 'score': 13.05}, {'connected_gene': 'ENSG00000225632', 'score': 11.49}, {'connected_gene': 'SSBP3', 'score': 11.06}, {'connected_gene': 'SSBP3-AS1', 'score': 10.92}, {'connected_gene': 'CDCP2', 'score': 10.33}, {'connected_gene': 'TCEANC2', 'score': 10.24}, {'connected_gene': 'TMEM59', 'score': 10.24}, {'connected_gene': 'ENSG00000256407', 'score': 9.98}, {'connected_gene': 'TTC22', 'score': 9.83}, {'connected_gene': 'ENSG00000237453', 'score': 9.83}, {'connected_gene': 'GC01M054384', 'score': 0.19}]
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 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 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 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 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 GH01I053014 53014202 53016201 2.03 [{'connected_gene': 'SCP2', 'score': 555.6}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'PRPF38A', 'score': 11.22}, {'connected_gene': 'GC01P053008', 'score': 0.44}, {'connected_gene': 'GC01P053051', 'score': 0.28}]
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 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 GH01I053938 53938416 53938477 0.2 [{'connected_gene': 'GC01P053939', 'score': 550.77}, {'connected_gene': 'HSPB11', 'score': 0.44}, {'connected_gene': 'GC01P053910', 'score': 0.31}]
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}]
chr1 GH01I053572 53572179 53573807 0.69 [{'connected_gene': 'PIR60882', 'score': 550.77}, {'connected_gene': 'RNU7-95P', 'score': 10.65}, {'connected_gene': 'HSPB11', 'score': 10.48}, {'connected_gene': 'DMRTB1', 'score': 0.14}, {'connected_gene': 'GLIS1', 'score': 0.1}]

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