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
ENST00000245923 [[45988546, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000319]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
ENST00000430715 [[45988551, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996525]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996430]]
ENST00000344680 [[45988551, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000313]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
ENST00000587597 [[45988551, 45989047], [45989312, 45989371], [45991728, 45991775], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000313]] [[45991769, 45991775], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
ENST00000591286 [[45988551, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45997375, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000313]] [[45997406, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
ENST00000590526 [[45988551, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998472], [46000049, 46000313]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996628]]
ENST00000588036 [[45988895, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45996417, 45996496]] None
ENST00000593187 [[45988906, 45989047], [45989312, 45989371], [45991728, 45991827]] None
ENST00000590746 [[45988939, 45989047], [45989312, 45989371], [45996417, 45996478]] None
ENST00000593129 [[45988953, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992361]] None
ENST00000591789 [[45989192, 45989371], [45991728, 45992231]] None
ENST00000589628 [[45992017, 45992244], [45992603, 45992811]] None
ENST00000592064 [[45997143, 45997678], [45997783, 45998163]] None
ENST00000589384 [[45997812, 45998263], [45998352, 45998397], [45999848, 45999941]] None
NM_206901 [[45988545, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996503]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996430]]
NM_005619 [[45988545, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000313]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45996417, 45996636], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
NM_206900 [[45988545, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000313]] [[45988965, 45989047], [45989312, 45989371], [45991728, 45991775], [45991894, 45991964], [45992105, 45992244], [45992603, 45992811], [45997423, 45997678], [45997783, 45998263], [45998352, 45998397], [46000049, 46000083]]
Promoter
Chrom Start End Description
chr19 45996465 45996523 CAGE_peak_1_at_RTN2_5end
chr19 46000221 46000235 CAGE_peak_5_at_RTN2_5end
chr19 46000251 46000311 CAGE_peak_2_at_RTN2_5end
chr19 46000553 46000584 CAGE_peak_3_at_RTN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I045571 45571215 45572080 0.31 [{'connected_gene': 'VASP', 'score': 12.04}, {'connected_gene': 'EML2', 'score': 11.99}, {'connected_gene': 'RN7SL836P', 'score': 11.98}, {'connected_gene': 'GIPR', 'score': 11.95}, {'connected_gene': 'RTN2', 'score': 11.74}, {'connected_gene': 'PPM1N', 'score': 11.72}, {'connected_gene': 'MIR330', 'score': 11.64}, {'connected_gene': 'MIR642A', 'score': 11.41}, {'connected_gene': 'ERCC1', 'score': 11.31}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'OPA3', 'score': 9.57}, {'connected_gene': 'GC19P045560', 'score': 0.39}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19 GH19I045465 45465091 45465350 0.51 [{'connected_gene': 'VASP', 'score': 14.33}, {'connected_gene': 'PPM1N', 'score': 11.67}, {'connected_gene': 'RTN2', 'score': 11.62}, {'connected_gene': 'RELB', 'score': 6.64}, {'connected_gene': 'FOSB', 'score': 4.52}, {'connected_gene': 'CLASRP', 'score': 2.67}, {'connected_gene': 'GIPR', 'score': 1.51}, {'connected_gene': 'ERCC1', 'score': 0.39}, {'connected_gene': 'MIR6088', 'score': 0.31}]
chr19 GH19I045567 45567979 45570401 1.29 [{'connected_gene': 'CCDC61', 'score': 17.54}, {'connected_gene': 'SYMPK', 'score': 14.06}, {'connected_gene': 'OPA3', 'score': 13.02}, {'connected_gene': 'CLASRP', 'score': 12.14}, {'connected_gene': 'BLOC1S3', 'score': 12.08}, {'connected_gene': 'VASP', 'score': 12.05}, {'connected_gene': 'ENSG00000269148', 'score': 11.72}, {'connected_gene': 'FBXO46', 'score': 11.6}, {'connected_gene': 'RTN2', 'score': 11.58}, {'connected_gene': 'PPM1N', 'score': 11.57}, {'connected_gene': 'MIR330', 'score': 11.45}, {'connected_gene': 'EML2', 'score': 11.44}, {'connected_gene': 'MIR642A', 'score': 11.4}, {'connected_gene': 'ERCC1', 'score': 10.86}, {'connected_gene': 'QPCTL', 'score': 10.64}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19 GH19I045500 45496019 45496343 0.86 [{'connected_gene': 'RTN2', 'score': 553.68}, {'connected_gene': 'NOVA2', 'score': 3.05}, {'connected_gene': 'DMPK', 'score': 1.18}, {'connected_gene': 'PPM1N', 'score': 0.44}]
chr19 GH19I045492 45492131 45494252 2.19 [{'connected_gene': 'RTN2', 'score': 557.37}, {'connected_gene': 'PPM1N', 'score': 29.58}, {'connected_gene': 'CLASRP', 'score': 13.16}, {'connected_gene': 'CCDC61', 'score': 12.57}, {'connected_gene': 'ZNF180', 'score': 12.44}, {'connected_gene': 'NKPD1', 'score': 2.27}, {'connected_gene': 'NANOS2', 'score': 2.03}, {'connected_gene': 'EXOC3L2', 'score': 1.7}]
chr19 GH19I045497 45497983 45498132 0.38 [{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 0.44}, {'connected_gene': 'GC19P045503', 'score': 0.44}]
chr19 GH19I045496 45496400 45497674 1.98 [{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 29.36}]
chr19 GH19I045499 45498163 45498450 0.54 [{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'GC19P045503', 'score': 0.77}, {'connected_gene': 'PPM1N', 'score': 0.44}]
chr19 GH19I045498 45498463 45500073 1.28 [{'connected_gene': 'PPM1N', 'score': 557.03}, {'connected_gene': 'ENSG00000268810', 'score': 14.45}, {'connected_gene': 'SYMPK', 'score': 13.47}, {'connected_gene': 'IRF2BP1', 'score': 12.22}, {'connected_gene': 'ZNF180', 'score': 12.15}, {'connected_gene': 'ENSG00000267114', 'score': 10.77}, {'connected_gene': 'QPCTL', 'score': 10.63}, {'connected_gene': 'GC19P045503', 'score': 0.77}, {'connected_gene': 'RTN2', 'score': 0.77}]
chr19 GH19I045484 45484883 45486492 1.38 [{'connected_gene': 'PPM1N', 'score': 5.32}, {'connected_gene': 'ERCC1', 'score': 0.44}, {'connected_gene': 'RTN2', 'score': 0.39}]
chr19 GH19I045320 45320298 45324998 1.88 [{'connected_gene': 'CKM', 'score': 560.87}, {'connected_gene': 'KLC3', 'score': 9.39}, {'connected_gene': 'MARK4', 'score': 9.32}, {'connected_gene': 'ERCC2', 'score': 8.82}, {'connected_gene': 'DMPK', 'score': 7.88}, {'connected_gene': 'RTN2', 'score': 5.53}, {'connected_gene': 'PPM1N', 'score': 4.81}, {'connected_gene': 'CD3EAP', 'score': 4.68}, {'connected_gene': 'GC19M045307', 'score': 0.39}]
chr19 GH19I045446 45446081 45452954 2.29 [{'connected_gene': 'CD3EAP', 'score': 13.41}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'ERCC1', 'score': 10.66}, {'connected_gene': 'GIPR', 'score': 6.62}, {'connected_gene': 'RTN2', 'score': 5.49}, {'connected_gene': 'RELB', 'score': 5.08}, {'connected_gene': 'FOSB', 'score': 4.11}, {'connected_gene': 'CLASRP', 'score': 2.63}, {'connected_gene': 'PPM1N', 'score': 2.61}, {'connected_gene': 'TRAPPC6A', 'score': 1.57}, {'connected_gene': 'BLOC1S3', 'score': 1.32}, {'connected_gene': 'MIR6088', 'score': 0.39}]
chr19 GH19I045401 45401488 45407656 2.56 [{'connected_gene': 'CD3EAP', 'score': 580.45}, {'connected_gene': 'PPP1R13L', 'score': 554.58}, {'connected_gene': 'CCDC61', 'score': 79.13}, {'connected_gene': 'ZNF180', 'score': 71.0}, {'connected_gene': 'CLASRP', 'score': 61.45}, {'connected_gene': 'FBXO46', 'score': 58.33}, {'connected_gene': 'ENSG00000269148', 'score': 58.06}, {'connected_gene': 'IRF2BP1', 'score': 21.26}, {'connected_gene': 'ERCC1', 'score': 20.6}, {'connected_gene': 'ENSG00000268810', 'score': 20.45}, {'connected_gene': 'EML2', 'score': 12.8}, {'connected_gene': 'SYMPK', 'score': 12.03}, {'connected_gene': 'PPM1N', 'score': 11.98}, {'connected_gene': 'RTN2', 'score': 11.96}, {'connected_gene': 'VASP', 'score': 11.69}, {'connected_gene': 'ERCC2', 'score': 11.67}, {'connected_gene': 'DMWD', 'score': 11.34}, {'connected_gene': 'QPCTL', 'score': 11.32}, {'connected_gene': 'MIR330', 'score': 10.49}, {'connected_gene': 'ENSG00000259605', 'score': 10.33}, {'connected_gene': 'ENSG00000267114', 'score': 10.24}, {'connected_gene': 'APOE', 'score': 4.71}, {'connected_gene': 'KLC3', 'score': 4.5}]
chr19 GH19I045466 45466964 45471228 2.27 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'FOSB', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 28.95}, {'connected_gene': 'CLASRP', 'score': 27.63}, {'connected_gene': 'CCDC61', 'score': 25.38}, {'connected_gene': 'CD3EAP', 'score': 20.86}, {'connected_gene': 'FBXO46', 'score': 20.52}, {'connected_gene': 'ENSG00000269148', 'score': 14.79}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'BLOC1S3', 'score': 12.14}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'IGFL4', 'score': 10.6}, {'connected_gene': 'IRF2BP1', 'score': 10.09}, {'connected_gene': 'ERCC1', 'score': 7.97}, {'connected_gene': 'PPM1N', 'score': 5.78}]
chr19 GH19I045501 45501601 45502800 1.03 [{'connected_gene': 'GC19P045503', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 5.38}, {'connected_gene': 'RTN2', 'score': 0.44}]
chr19 GH19I045442 45442121 45445799 1.88 [{'connected_gene': 'ENSG00000268810', 'score': 24.01}, {'connected_gene': 'CD3EAP', 'score': 22.9}, {'connected_gene': 'RELB', 'score': 18.34}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'PPP1R13L', 'score': 13.71}, {'connected_gene': 'ERCC1', 'score': 13.32}, {'connected_gene': 'PPM1N', 'score': 13.29}, {'connected_gene': 'RTN2', 'score': 13.26}, {'connected_gene': 'CLASRP', 'score': 12.57}, {'connected_gene': 'FOSB', 'score': 10.15}, {'connected_gene': 'VASP', 'score': 6.86}, {'connected_gene': 'GIPR', 'score': 2.29}, {'connected_gene': 'BLOC1S3', 'score': 2.15}, {'connected_gene': 'MIR6088', 'score': 0.44}]
chr19 GH19I045471 45471563 45471712 0.63 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.89}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19 GH19I045474 45471803 45471952 0.69 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.89}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19 GH19I045472 45472201 45476847 1.12 [{'connected_gene': 'GC19P045474', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.95}, {'connected_gene': 'VASP', 'score': 11.9}, {'connected_gene': 'ERCC2', 'score': 11.05}, {'connected_gene': 'EML2', 'score': 10.97}, {'connected_gene': 'MIR330', 'score': 10.85}, {'connected_gene': 'ERCC1', 'score': 9.93}, {'connected_gene': 'PPM1N', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.96}, {'connected_gene': 'GC19P045469', 'score': 0.77}, {'connected_gene': 'FOSB', 'score': 0.44}]
chr19 GH19I045473 45471383 45471552 0.4 [{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 20.23}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'ERCC1', 'score': 7.12}, {'connected_gene': 'FOSB', 'score': 0.77}, {'connected_gene': 'GC19P045474', 'score': 0.77}]

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