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
ENST00000369825 [[105148797, 105148923], [105151947, 105152040], [105152127, 105152223], [105153955, 105154151], [105155502, 105155780]] [[105151950, 105152040], [105152127, 105152214]]
ENST00000369811 [[105148806, 105148923], [105151947, 105152040], [105152127, 105152223], [105155502, 105155831]] [[105151950, 105152040], [105152127, 105152214]]
ENST00000369815 [[105148806, 105148923], [105151947, 105152040], [105152127, 105152223], [105155502, 105155789], [105156165, 105156198]] [[105151950, 105152040], [105152127, 105152214]]
ENST00000337003 [[105148806, 105148923], [105151947, 105152040], [105152127, 105152223], [105153955, 105154151], [105156165, 105156223]] [[105151950, 105152040], [105152127, 105152214]]
ENST00000309579 [[105148806, 105148923], [105151947, 105152040], [105152127, 105152223], [105156165, 105156223]] [[105151950, 105152040], [105152127, 105152214]]
Promoter
Chrom Start End Description
chr10 105156198 105156248 CAGE_peak_1_at_USMG5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103771 103771403 103773437 1.57 [{'connected_gene': 'ATP5MD', 'score': 4.91}, {'connected_gene': 'GSTO2', 'score': 4.4}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.31}, {'connected_gene': 'SH3PXD2A', 'score': 0.18}]
chr10 GH10I103395 103394288 103394347 1.01 [{'connected_gene': 'ATP5MD', 'score': 550.77}, {'connected_gene': 'MIR1307', 'score': 550.77}, {'connected_gene': 'CALHM2', 'score': 11.47}, {'connected_gene': 'GC10P103388', 'score': 0.44}]
chr10 GH10I103349 103349963 103351835 1.98 [{'connected_gene': 'PCGF6', 'score': 561.14}, {'connected_gene': 'PDCD11', 'score': 24.51}, {'connected_gene': 'ENSG00000260461', 'score': 20.94}, {'connected_gene': 'SLK', 'score': 12.1}, {'connected_gene': 'MIR1307', 'score': 11.49}, {'connected_gene': 'ATP5MD', 'score': 11.47}, {'connected_gene': 'RNU11-3P', 'score': 10.74}, {'connected_gene': 'NEURL1-AS1', 'score': 9.94}, {'connected_gene': 'CALHM2', 'score': 6.56}, {'connected_gene': 'GC10M103313', 'score': 0.28}]
chr10 GH10I103244 103244601 103244933 0.96 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}, {'connected_gene': 'ST13P13', 'score': 0.31}]
chr10 GH10I103245 103245935 103245994 0.5 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103246 103246002 103246199 0.2 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103434 103434236 103434431 0.31 [{'connected_gene': 'CALHM1', 'score': 12.43}, {'connected_gene': 'NEURL1', 'score': 11.2}, {'connected_gene': 'ATP5MD', 'score': 10.38}, {'connected_gene': 'PDCD11', 'score': 10.38}, {'connected_gene': 'MIR1307', 'score': 10.38}, {'connected_gene': 'NEURL1-AS1', 'score': 10.33}, {'connected_gene': 'CALHM2', 'score': 10.24}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103432 103432128 103432481 0.43 [{'connected_gene': 'CALHM1', 'score': 12.15}, {'connected_gene': 'NEURL1', 'score': 11.59}, {'connected_gene': 'ATP5MD', 'score': 11.06}, {'connected_gene': 'PDCD11', 'score': 11.06}, {'connected_gene': 'MIR1307', 'score': 11.06}, {'connected_gene': 'NEURL1-AS1', 'score': 10.67}, {'connected_gene': 'RNU11-3P', 'score': 9.68}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103433 103433984 103434133 0.2 [{'connected_gene': 'CALHM1', 'score': 12.54}, {'connected_gene': 'NEURL1', 'score': 11.48}, {'connected_gene': 'ATP5MD', 'score': 11.04}, {'connected_gene': 'PDCD11', 'score': 11.04}, {'connected_gene': 'MIR1307', 'score': 11.04}, {'connected_gene': 'NEURL1-AS1', 'score': 10.33}, {'connected_gene': 'RNU11-3P', 'score': 9.72}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103394 103394884 103398147 2.03 [{'connected_gene': 'PDCD11', 'score': 581.49}, {'connected_gene': 'ATP5MD', 'score': 550.77}, {'connected_gene': 'TAF5', 'score': 17.11}, {'connected_gene': 'PCGF6', 'score': 14.47}, {'connected_gene': 'CALHM2', 'score': 7.1}, {'connected_gene': 'AS3MT', 'score': 4.62}]
chr10 GH10I103398 103398367 103398426 0.5 [{'connected_gene': 'PDCD11', 'score': 550.77}, {'connected_gene': 'ATP5MD', 'score': 550.77}, {'connected_gene': 'GC10M103406', 'score': 0.44}]
chr10 GH10I103416 103416744 103416893 0.38 [{'connected_gene': 'ENSG00000234699', 'score': 12.07}, {'connected_gene': 'CALHM2', 'score': 12.07}, {'connected_gene': 'NEURL1', 'score': 11.9}, {'connected_gene': 'ATP5MD', 'score': 11.75}, {'connected_gene': 'PDCD11', 'score': 11.75}, {'connected_gene': 'MIR1307', 'score': 11.75}, {'connected_gene': 'CALHM1', 'score': 11.5}, {'connected_gene': 'NEURL1-AS1', 'score': 11.01}, {'connected_gene': 'GC10M103406', 'score': 0.44}, {'connected_gene': 'ENSG00000273485', 'score': 0.29}]
chr10 GH10I103417 103416924 103417113 0.54 [{'connected_gene': 'ENSG00000234699', 'score': 12.07}, {'connected_gene': 'CALHM2', 'score': 12.07}, {'connected_gene': 'NEURL1', 'score': 11.9}, {'connected_gene': 'ATP5MD', 'score': 11.75}, {'connected_gene': 'PDCD11', 'score': 11.75}, {'connected_gene': 'MIR1307', 'score': 11.75}, {'connected_gene': 'CALHM1', 'score': 11.5}, {'connected_gene': 'NEURL1-AS1', 'score': 11.01}, {'connected_gene': 'GC10M103406', 'score': 0.39}, {'connected_gene': 'ENSG00000273485', 'score': 0.29}]