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
ENST00000338450 [[111365082, 111365324], [111371575, 111372522]] [[111365320, 111365324], [111371575, 111372279]]
ENST00000333219 [[111365624, 111366632], [111371575, 111373421]] [[111366496, 111366632], [111371575, 111372279]]
ENST00000375775 [[111365806, 111365933], [111371575, 111372522]] [[111371646, 111372279]]
ENST00000375774 [[111367328, 111368355], [111371575, 111373418]] [[111367790, 111368355], [111371575, 111372279]]
ENST00000464141 [[111367783, 111367875], [111371575, 111371823]] None
NM_198217 [[111364969, 111365324], [111371575, 111373421]] [[111365320, 111365324], [111371575, 111372279]]
NM_198218 [[111365609, 111365933], [111371575, 111373421]] [[111371646, 111372279]]
NM_198219 [[111365609, 111366632], [111371575, 111373421]] [[111366496, 111366632], [111371575, 111372279]]
NM_005537 [[111367358, 111368355], [111371575, 111373421]] [[111367790, 111368355], [111371575, 111372279]]
NM_001267728 [[111367783, 111367875], [111371575, 111373421]] [[111367790, 111367875], [111371575, 111372279]]
Promoter
Chrom Start End Description
chr13 111365602 111365615 CAGE_peak_3_at_ING1_5end
chr13 111365988 111366070 CAGE_peak_1_at_ING1_5end
chr13 111368182 111368201 CAGE_peak_2_at_ING1_5end
chr13 111368228 111368238 CAGE_peak_4_at_ING1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I111188 111188890 111190174 1 [{'connected_gene': 'ARHGEF7', 'score': 7.2}, {'connected_gene': 'ING1', 'score': 2.85}, {'connected_gene': 'SALL4P4', 'score': 0.44}, {'connected_gene': 'GC13P111283', 'score': 0.16}]
chr13 GH13I111164 111164341 111169027 1.1 [{'connected_gene': 'ARHGEF7', 'score': 19.97}, {'connected_gene': 'ARHGEF7-AS2', 'score': 11.08}, {'connected_gene': 'CARS2', 'score': 4.86}, {'connected_gene': 'ING1', 'score': 3.07}, {'connected_gene': 'ANKRD10', 'score': 1.71}, {'connected_gene': 'LOC101060553', 'score': 0.39}, {'connected_gene': 'SALL4P4', 'score': 0.37}]
chr13 GH13I110657 110657291 110659000 1.09 [{'connected_gene': 'CARS2', 'score': 39.94}, {'connected_gene': 'NAXD', 'score': 33.79}, {'connected_gene': 'ING1', 'score': 11.96}, {'connected_gene': 'ANKRD10', 'score': 10.72}, {'connected_gene': 'COL4A2-AS2', 'score': 10.56}, {'connected_gene': 'COL4A2', 'score': 10.53}, {'connected_gene': 'GC13P110640', 'score': 0.37}, {'connected_gene': 'GC13P110711', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.18}]
chr13 GH13I110650 110650403 110654774 0.38 [{'connected_gene': 'CARS2', 'score': 39.99}, {'connected_gene': 'NAXD', 'score': 32.89}, {'connected_gene': 'ING1', 'score': 11.8}, {'connected_gene': 'ANKRD10', 'score': 10.36}, {'connected_gene': 'GC13P110640', 'score': 0.39}, {'connected_gene': 'GC13P110711', 'score': 0.22}, {'connected_gene': 'GC13P110574', 'score': 0.18}]
chr13 GH13I110644 110644454 110645267 0.88 [{'connected_gene': 'CARS2', 'score': 36.4}, {'connected_gene': 'NAXD', 'score': 20.84}, {'connected_gene': 'ING1', 'score': 11.54}, {'connected_gene': 'ANKRD10', 'score': 10.65}, {'connected_gene': 'GC13P110640', 'score': 0.44}, {'connected_gene': 'GC13P110711', 'score': 0.2}, {'connected_gene': 'GC13P110574', 'score': 0.19}]
chr13 GH13I110798 110798136 110800869 0.76 [{'connected_gene': 'CARS2', 'score': 11.0}, {'connected_gene': 'ING1', 'score': 11.0}, {'connected_gene': 'NAXD', 'score': 10.34}, {'connected_gene': 'LINC00431', 'score': 5.77}, {'connected_gene': 'LINC00567', 'score': 0.39}, {'connected_gene': 'RPL21P107', 'score': 0.28}]
chr13 GH13I110675 110675638 110677595 1.12 [{'connected_gene': 'CARS2', 'score': 30.78}, {'connected_gene': 'ING1', 'score': 11.76}, {'connected_gene': 'NAXD', 'score': 9.65}, {'connected_gene': 'GC13P110711', 'score': 0.28}, {'connected_gene': 'GC13P110640', 'score': 0.28}, {'connected_gene': 'GC13P110574', 'score': 0.15}]
chr13 GH13I110755 110755994 110756776 0.6 [{'connected_gene': 'CARS2', 'score': 11.36}, {'connected_gene': 'ING1', 'score': 11.36}, {'connected_gene': 'GC13M110763', 'score': 0.44}, {'connected_gene': 'PIR46428', 'score': 0.26}]
chr13 GH13I110723 110723110 110723384 0.2 [{'connected_gene': 'CARS2', 'score': 14.41}, {'connected_gene': 'PIR46428', 'score': 0.44}, {'connected_gene': 'ING1', 'score': 0.39}, {'connected_gene': 'GC13M110763', 'score': 0.28}]
chr13 GH13I110717 110717730 110718388 0.62 [{'connected_gene': 'CARS2', 'score': 8.59}, {'connected_gene': 'PIR46428', 'score': 0.77}, {'connected_gene': 'ING1', 'score': 0.44}, {'connected_gene': 'GC13M110763', 'score': 0.25}]
chr13 GH13I110710 110710963 110717401 2.31 [{'connected_gene': 'CARS2', 'score': 587.67}, {'connected_gene': 'PIR46428', 'score': 550.77}, {'connected_gene': 'LOC105376684', 'score': 550.77}, {'connected_gene': 'ING1', 'score': 550.77}, {'connected_gene': 'ANKRD10-IT1', 'score': 20.0}, {'connected_gene': 'NAXD', 'score': 10.73}, {'connected_gene': 'ANKRD10', 'score': 10.6}, {'connected_gene': 'GC13P110711', 'score': 0.77}]
chr13 GH13I110688 110688806 110689795 0.31 [{'connected_gene': 'NAXD', 'score': 13.8}, {'connected_gene': 'CARS2', 'score': 13.02}, {'connected_gene': 'ING1', 'score': 13.02}, {'connected_gene': 'ANKRD10', 'score': 10.87}, {'connected_gene': 'GC13P110711', 'score': 0.34}, {'connected_gene': 'GC13P110640', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.14}]
chr13 GH13I110660 110660560 110660739 0.22 [{'connected_gene': 'NAXD', 'score': 18.74}, {'connected_gene': 'CARS2', 'score': 11.96}, {'connected_gene': 'ING1', 'score': 11.96}, {'connected_gene': 'COL4A2-AS2', 'score': 10.56}, {'connected_gene': 'COL4A2', 'score': 10.53}, {'connected_gene': 'ANKRD10', 'score': 9.86}, {'connected_gene': 'GC13P110640', 'score': 0.34}, {'connected_gene': 'GC13P110711', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.17}]
chr13 GH13I110571 110571629 110572455 0.2 [{'connected_gene': 'NAXD', 'score': 10.61}, {'connected_gene': 'ANKRD10', 'score': 9.58}, {'connected_gene': 'ING1', 'score': 5.11}, {'connected_gene': 'GC13P110574', 'score': 0.77}, {'connected_gene': 'RAB20', 'score': 0.39}]
chr13 GH13I110953 110953479 110956603 1.64 [{'connected_gene': 'RAB20', 'score': 9.55}, {'connected_gene': 'ANKRD10', 'score': 3.48}, {'connected_gene': 'ING1', 'score': 1.89}, {'connected_gene': 'LINC00431', 'score': 0.39}, {'connected_gene': 'PARP1P1', 'score': 0.37}, {'connected_gene': 'LOC105370364', 'score': 0.37}]
chr13 GH13I110470 110470904 110472678 1.6 [{'connected_gene': 'RAB20', 'score': 13.35}, {'connected_gene': 'ANKRD10', 'score': 3.89}, {'connected_gene': 'ING1', 'score': 2.45}, {'connected_gene': 'COL4A2-AS2', 'score': 0.44}, {'connected_gene': 'COL4A2-AS1', 'score': 0.28}, {'connected_gene': 'COL4A2', 'score': 0.1}]
chr13 GH13I110519 110519516 110522908 1.44 [{'connected_gene': 'RAB20', 'score': 41.36}, {'connected_gene': 'COL4A2-AS2', 'score': 11.74}, {'connected_gene': 'COL4A2', 'score': 11.6}, {'connected_gene': 'NAXD', 'score': 9.84}, {'connected_gene': 'ANKRD10', 'score': 2.61}, {'connected_gene': 'ING1', 'score': 1.35}, {'connected_gene': 'GC13P110514', 'score': 0.44}]
chr13 GH13I110535 110535537 110539028 1.34 [{'connected_gene': 'RAB20', 'score': 70.5}, {'connected_gene': 'COL4A2-AS2', 'score': 11.41}, {'connected_gene': 'COL4A2', 'score': 11.29}, {'connected_gene': 'ANKRD10', 'score': 11.07}, {'connected_gene': 'NAXD', 'score': 9.82}, {'connected_gene': 'ING1', 'score': 1.21}, {'connected_gene': 'GC13P110514', 'score': 0.34}]
chr13 GH13I110523 110523858 110532400 1.56 [{'connected_gene': 'RAB20', 'score': 52.87}, {'connected_gene': 'COL4A2-AS2', 'score': 11.73}, {'connected_gene': 'COL4A2', 'score': 11.6}, {'connected_gene': 'ANKRD10', 'score': 11.42}, {'connected_gene': 'NAXD', 'score': 10.22}, {'connected_gene': 'ING1', 'score': 1.71}, {'connected_gene': 'GC13P110514', 'score': 0.39}]
chr13 GH13I110558 110558890 110563808 2.41 [{'connected_gene': 'RAB20', 'score': 581.56}, {'connected_gene': 'COL4A2-AS2', 'score': 11.02}, {'connected_gene': 'COL4A2', 'score': 10.94}, {'connected_gene': 'ANKRD10', 'score': 2.62}, {'connected_gene': 'ING1', 'score': 1.66}, {'connected_gene': 'GC13P110514', 'score': 0.25}]
chr13 GH13I110873 110873791 110875463 1.36 [{'connected_gene': 'ANKRD10', 'score': 18.85}, {'connected_gene': 'CARS2', 'score': 9.98}, {'connected_gene': 'ING1', 'score': 9.98}, {'connected_gene': 'NAXD', 'score': 9.88}, {'connected_gene': 'RAB20', 'score': 7.44}, {'connected_gene': 'ANKRD10-IT1', 'score': 7.03}, {'connected_gene': 'LINC00346', 'score': 5.54}, {'connected_gene': 'GC13M110864', 'score': 0.77}, {'connected_gene': 'GC13P110892', 'score': 0.37}]
chr13 GH13I110876 110876714 110876863 0.38 [{'connected_gene': 'ANKRD10', 'score': 11.37}, {'connected_gene': 'CARS2', 'score': 9.98}, {'connected_gene': 'ING1', 'score': 9.98}, {'connected_gene': 'GC13M110864', 'score': 0.44}, {'connected_gene': 'GC13P110892', 'score': 0.37}]
chr13 GH13I110911 110911442 110917976 2.5 [{'connected_gene': 'ANKRD10', 'score': 563.16}, {'connected_gene': 'ENSG00000277767', 'score': 550.77}, {'connected_gene': 'ANKRD10-IT1', 'score': 12.11}, {'connected_gene': 'RAB20', 'score': 10.43}, {'connected_gene': 'NAXD', 'score': 4.62}, {'connected_gene': 'ING1', 'score': 2.38}, {'connected_gene': 'ARHGEF7', 'score': 1.25}]
chr13 GH13I110370 110370201 110375461 1.33 [{'connected_gene': 'COL4A1', 'score': 11.35}, {'connected_gene': 'COL4A2', 'score': 11.35}, {'connected_gene': 'ING1', 'score': 2.05}, {'connected_gene': 'GC13P110400', 'score': 0.31}, {'connected_gene': 'MIR8073', 'score': 0.29}]
chr13 GH13I110971 110971634 110971753 0.57 [{'connected_gene': 'LOC105370364', 'score': 550.77}, {'connected_gene': 'TEX29', 'score': 48.08}, {'connected_gene': 'ING1', 'score': 14.53}, {'connected_gene': 'LINC00431', 'score': 0.44}, {'connected_gene': 'GC13P110984', 'score': 0.39}]
chr13 GH13I110719 110719006 110719839 0.38 [{'connected_gene': 'ANKRD10-IT1', 'score': 11.39}, {'connected_gene': 'ANKRD10', 'score': 10.34}, {'connected_gene': 'PIR46428', 'score': 0.77}, {'connected_gene': 'ING1', 'score': 0.44}, {'connected_gene': 'GC13M110763', 'score': 0.26}]
chr13 GH13I110463 110463934 110464786 1.21 [{'connected_gene': 'COL4A2-AS2', 'score': 550.77}, {'connected_gene': 'RAB20', 'score': 9.28}, {'connected_gene': 'ANKRD10', 'score': 2.39}, {'connected_gene': 'ING1', 'score': 1.17}, {'connected_gene': 'COL4A2-AS1', 'score': 0.26}, {'connected_gene': 'COL4A2', 'score': 0.1}]
chr13 GH13I110640 110640555 110641792 0.76 [{'connected_gene': 'GC13P110640', 'score': 550.77}, {'connected_gene': 'NAXD', 'score': 40.06}, {'connected_gene': 'CARS2', 'score': 12.1}, {'connected_gene': 'ING1', 'score': 12.1}, {'connected_gene': 'ANKRD10', 'score': 10.65}, {'connected_gene': 'COL4A2-AS2', 'score': 10.59}, {'connected_gene': 'COL4A2', 'score': 10.54}, {'connected_gene': 'GC13P110574', 'score': 0.2}, {'connected_gene': 'GC13P110711', 'score': 0.19}]
chr13 GH13I110574 110574974 110577821 1.56 [{'connected_gene': 'GC13P110574', 'score': 550.77}, {'connected_gene': 'ANKRD10', 'score': 12.31}, {'connected_gene': 'NAXD', 'score': 11.33}, {'connected_gene': 'RAB20', 'score': 9.26}, {'connected_gene': 'ING1', 'score': 1.71}]
chr13 GH13I110891 110891686 110891829 0.33 [{'connected_gene': 'GC13P110892', 'score': 550.77}, {'connected_gene': 'ANKRD10', 'score': 12.67}, {'connected_gene': 'LINC00346', 'score': 11.66}, {'connected_gene': 'NAXD', 'score': 9.93}, {'connected_gene': 'ING1', 'score': 3.24}, {'connected_gene': 'GC13M110864', 'score': 0.34}]