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
ENST00000262746 [[45976707, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987280, 45987609]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
ENST00000319248 [[45976718, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987500, 45987628]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
ENST00000372079 [[45976722, 45977086], [45980178, 45980309], [45980544, 45980567], [45984661, 45984726], [45987500, 45987526]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980567], [45984661, 45984715]]
ENST00000447184 [[45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987529, 45987610]] [[45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
ENST00000424390 [[45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45988449, 45988719]] [[45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
ENST00000483583 [[45981325, 45981479], [45984609, 45984726], [45987280, 45987539]] None
NM_002574 [[45976706, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987280, 45987610]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
NM_181696 [[45976706, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987306, 45987610]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
NM_181697 [[45976706, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45987500, 45987610]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
NM_001202431 [[45976706, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984726], [45988449, 45988562]] [[45977000, 45977086], [45980178, 45980309], [45980544, 45980667], [45981325, 45981479], [45984609, 45984715]]
Promoter
Chrom Start End Description
chr1 45987548 45987566 CAGE_peak_1_at_PRDX1_5end
chr1 45988484 45988500 CAGE_peak_4_at_PRDX1_5end
chr1 45988520 45988529 CAGE_peak_5_at_PRDX1_5end
chr1 45988542 45988573 CAGE_peak_2_at_PRDX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I045392 45392718 45395280 1.16 [{'connected_gene': 'PRDX1', 'score': 15.69}, {'connected_gene': 'MMACHC', 'score': 4.7}, {'connected_gene': 'TOE1', 'score': 2.76}, {'connected_gene': 'IPP', 'score': 2.7}, {'connected_gene': 'TESK2', 'score': 1.8}, {'connected_gene': 'PPIAP36', 'score': 0.34}, {'connected_gene': 'PIR46302', 'score': 0.23}]
chr1 GH01I045348 45348134 45350026 0.76 [{'connected_gene': 'PRDX1', 'score': 15.86}, {'connected_gene': 'MMACHC', 'score': 15.25}, {'connected_gene': 'TESK2', 'score': 11.27}, {'connected_gene': 'PIR46302', 'score': 0.44}, {'connected_gene': 'PPIAP36', 'score': 0.2}]
chr1 GH01I045520 45520000 45523699 2.15 [{'connected_gene': 'PRDX1', 'score': 576.06}, {'connected_gene': 'CCDC163', 'score': 98.48}, {'connected_gene': 'TOE1', 'score': 76.85}, {'connected_gene': 'LRRC41', 'score': 65.93}, {'connected_gene': 'MUTYH', 'score': 54.01}, {'connected_gene': 'GPBP1L1', 'score': 49.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'RPL7AP16', 'score': 26.87}, {'connected_gene': 'NASP', 'score': 21.87}, {'connected_gene': 'ZSWIM5', 'score': 20.79}, {'connected_gene': 'HECTD3', 'score': 19.99}, {'connected_gene': 'PTCH2', 'score': 14.15}, {'connected_gene': 'AKR1A1', 'score': 13.34}, {'connected_gene': 'RPS15AP10', 'score': 12.09}, {'connected_gene': 'NSUN4', 'score': 10.24}, {'connected_gene': 'CCDC17', 'score': 10.19}, {'connected_gene': 'MMACHC', 'score': 4.66}, {'connected_gene': 'PIR60929', 'score': 0.44}]
chr1 GH01I045359 45359802 45361889 0.9 [{'connected_gene': 'PRDX1', 'score': 15.87}, {'connected_gene': 'PIR46302', 'score': 0.37}, {'connected_gene': 'PPIAP36', 'score': 0.23}, {'connected_gene': 'TESK2', 'score': 0.12}]
chr1 GH01I045409 45409370 45413212 1.27 [{'connected_gene': 'PRDX1', 'score': 25.81}, {'connected_gene': 'TESK2', 'score': 13.05}, {'connected_gene': 'HMGB1P48', 'score': 9.24}, {'connected_gene': 'MMACHC', 'score': 5.61}, {'connected_gene': 'CCDC163', 'score': 5.41}, {'connected_gene': 'IPP', 'score': 4.43}, {'connected_gene': 'PPIAP36', 'score': 0.77}, {'connected_gene': 'PIR46302', 'score': 0.2}]
chr1 GH01I045519 45519005 45519568 0.54 [{'connected_gene': 'PRDX1', 'score': 26.06}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.14}, {'connected_gene': 'PIR60929', 'score': 0.77}]
chr1 GH01I045319 45319465 45322923 0.82 [{'connected_gene': 'PRDX1', 'score': 10.12}, {'connected_gene': 'HMGB1P48', 'score': 10.12}, {'connected_gene': 'CCDC163', 'score': 8.58}, {'connected_gene': 'C1orf228', 'score': 7.54}, {'connected_gene': 'MMACHC', 'score': 4.35}, {'connected_gene': 'HPDL', 'score': 0.44}, {'connected_gene': 'ZSWIM5', 'score': 0.39}]
chr1 GH01I045526 45526249 45526398 0.65 [{'connected_gene': 'PRDX1', 'score': 0.77}, {'connected_gene': 'HMGB1P48', 'score': 0.77}]
chr1 GH01I045607 45607294 45609908 0.63 [{'connected_gene': 'MAST2', 'score': 21.16}, {'connected_gene': 'GPBP1L1', 'score': 11.69}, {'connected_gene': 'TMEM69', 'score': 11.69}, {'connected_gene': 'HMGB1P48', 'score': 10.39}, {'connected_gene': 'PRDX1', 'score': 10.37}, {'connected_gene': 'ENSG00000281825', 'score': 0.77}, {'connected_gene': 'CCDC17', 'score': 0.37}, {'connected_gene': 'NASP', 'score': 0.34}]
chr1 GH01I045541 45541401 45546300 1.49 [{'connected_gene': 'CCDC163', 'score': 24.28}, {'connected_gene': 'PRDX1', 'score': 22.94}, {'connected_gene': 'IPP', 'score': 8.38}, {'connected_gene': 'AKR1A1', 'score': 7.42}, {'connected_gene': 'MMACHC', 'score': 4.69}, {'connected_gene': 'TESK2', 'score': 4.0}, {'connected_gene': 'GPBP1L1', 'score': 2.06}, {'connected_gene': 'TOE1', 'score': 1.52}, {'connected_gene': 'GC01P045551', 'score': 0.44}, {'connected_gene': 'HMGB1P48', 'score': 0.39}]
chr1 GH01I045443 45443249 45444764 0.94 [{'connected_gene': 'CCDC163', 'score': 55.4}, {'connected_gene': 'PRDX1', 'score': 16.54}, {'connected_gene': 'TESK2', 'score': 11.48}, {'connected_gene': 'PPIAP36', 'score': 0.31}]
chr1 GH01I045557 45557273 45558198 0.71 [{'connected_gene': 'CCDC163', 'score': 54.65}, {'connected_gene': 'PRDX1', 'score': 18.62}, {'connected_gene': 'AKR1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000281133', 'score': 0.34}]
chr1 GH01I045498 45498336 45501625 1.59 [{'connected_gene': 'CCDC163', 'score': 648.91}, {'connected_gene': 'MMACHC', 'score': 555.75}, {'connected_gene': 'PIR33787', 'score': 550.77}, {'connected_gene': 'PRDX1', 'score': 36.85}, {'connected_gene': 'MUTYH', 'score': 33.34}, {'connected_gene': 'LRRC41', 'score': 28.18}, {'connected_gene': 'TOE1', 'score': 20.93}, {'connected_gene': 'NASP', 'score': 13.04}, {'connected_gene': 'GPBP1L1', 'score': 12.03}, {'connected_gene': 'AKR1A1', 'score': 11.88}, {'connected_gene': 'HMGB1P48', 'score': 11.4}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'HECTD3', 'score': 9.68}]
chr1 GH01I045517 45517045 45517552 0.43 [{'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045334 45334309 45342237 2.3 [{'connected_gene': 'TOE1', 'score': 585.62}, {'connected_gene': 'MUTYH', 'score': 560.72}, {'connected_gene': 'GPBP1L1', 'score': 34.03}, {'connected_gene': 'LRRC41', 'score': 26.44}, {'connected_gene': 'RPL7AP16', 'score': 22.34}, {'connected_gene': 'HECTD3', 'score': 19.06}, {'connected_gene': 'PRDX1', 'score': 16.66}, {'connected_gene': 'MMACHC', 'score': 15.57}, {'connected_gene': 'CCDC163', 'score': 13.19}, {'connected_gene': 'TESK2', 'score': 11.26}, {'connected_gene': 'UROD', 'score': 4.71}, {'connected_gene': 'HPDL', 'score': 0.39}]
chr1 GH01I046441 46441929 46443387 1.55 [{'connected_gene': 'LRRC41', 'score': 23.82}, {'connected_gene': 'GPBP1L1', 'score': 14.89}, {'connected_gene': 'RPL7AP16', 'score': 14.63}, {'connected_gene': 'NSUN4', 'score': 14.39}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'TEX38', 'score': 10.9}, {'connected_gene': 'MOB3C', 'score': 10.72}, {'connected_gene': 'EFCAB14-AS1', 'score': 9.86}, {'connected_gene': 'PRDX1', 'score': 4.07}, {'connected_gene': 'LINC01398', 'score': 0.44}, {'connected_gene': 'FAAHP1', 'score': 0.39}]
chr1 GH01I045489 45489789 45492029 2.06 [{'connected_gene': 'TESK2', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.58}, {'connected_gene': 'NSUN4', 'score': 28.55}, {'connected_gene': 'PRDX1', 'score': 25.58}, {'connected_gene': 'LRRC41', 'score': 22.72}, {'connected_gene': 'TOE1', 'score': 14.16}, {'connected_gene': 'IPP', 'score': 12.89}, {'connected_gene': 'GPBP1L1', 'score': 11.61}, {'connected_gene': 'KIF2C', 'score': 10.27}, {'connected_gene': 'ZSWIM5', 'score': 6.46}, {'connected_gene': 'MMACHC', 'score': 4.86}, {'connected_gene': 'PPIAP36', 'score': 0.18}]
chr1 GH01I045550 45550046 45552962 2.09 [{'connected_gene': 'AKR1A1', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 26.95}, {'connected_gene': 'TOE1', 'score': 25.37}, {'connected_gene': 'PRDX1', 'score': 23.12}, {'connected_gene': 'LRRC41', 'score': 21.79}, {'connected_gene': 'CCDC163', 'score': 20.52}, {'connected_gene': 'HECTD3', 'score': 18.29}, {'connected_gene': 'RPL7AP16', 'score': 13.08}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'GC01P045551', 'score': 0.77}, {'connected_gene': 'ENSG00000281133', 'score': 0.31}]
chr1 GH01I045512 45512669 45512878 0.87 [{'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'MMACHC', 'score': 0.39}, {'connected_gene': 'PRDX1', 'score': 0.39}, {'connected_gene': 'CCDC163', 'score': 0.39}]
chr1 GH01I046170 46170824 46175832 2.08 [{'connected_gene': 'TSPAN1', 'score': 550.77}, {'connected_gene': 'NASP', 'score': 36.84}, {'connected_gene': 'LRRC41', 'score': 33.0}, {'connected_gene': 'TOE1', 'score': 29.17}, {'connected_gene': 'NSUN4', 'score': 25.09}, {'connected_gene': 'MUTYH', 'score': 22.48}, {'connected_gene': 'TEX38', 'score': 11.85}, {'connected_gene': 'LURAP1', 'score': 11.0}, {'connected_gene': 'RPL7AP16', 'score': 10.65}, {'connected_gene': 'RPS15AP10', 'score': 10.46}, {'connected_gene': 'CCDC163', 'score': 9.56}, {'connected_gene': 'PRDX1', 'score': 4.34}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.77}, {'connected_gene': 'LOC105378695', 'score': 0.77}, {'connected_gene': 'LOC110117498', 'score': 0.77}, {'connected_gene': 'PIK3R3', 'score': 0.77}, {'connected_gene': 'LOC101929626', 'score': 0.28}]
chr1 GH01I045513 45513169 45514253 0.54 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 65.7}, {'connected_gene': 'AKR1A1', 'score': 12.53}, {'connected_gene': 'MMACHC', 'score': 4.82}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045514 45514589 45516738 0.56 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.76}, {'connected_gene': 'GPBP1L1', 'score': 10.71}, {'connected_gene': 'MMACHC', 'score': 4.79}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I045516 45516849 45516998 0.46 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PRDX1', 'score': 0.44}]

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