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
ENST00000376387 [[100153670, 100154031], [100169867, 100169935], [100172289, 100172383], [100181720, 100181848], [100188861, 100188991], [100189992, 100190117], [100191699, 100191811], [100192967, 100193047], [100193812, 100193921], [100196116, 100196249], [100199238, 100199358], [100201418, 100201476], [100204420, 100204580], [100206557, 100206709], [100207789, 100207901], [100211616, 100211788], [100214944, 100216260]] [[100153860, 100154031], [100169867, 100169935], [100172289, 100172383], [100181720, 100181848], [100188861, 100188991], [100189992, 100190117], [100191699, 100191811], [100192967, 100193047], [100193812, 100193921], [100196116, 100196249], [100199238, 100199358], [100201418, 100201476], [100204420, 100204580], [100206557, 100206709], [100207789, 100207901], [100211616, 100211788], [100214944, 100215012]]
ENST00000463709 [[100166468, 100166570], [100169867, 100169935], [100171801, 100171882], [100172289, 100172383], [100181720, 100181848], [100188861, 100188991], [100189992, 100190116]] None
ENST00000466555 [[100192764, 100193047], [100193812, 100193990]] None
NM_004800 [[100153627, 100154031], [100169867, 100169935], [100172289, 100172383], [100181720, 100181848], [100188861, 100188991], [100189992, 100190117], [100191699, 100191811], [100192967, 100193047], [100193812, 100193921], [100196116, 100196249], [100199238, 100199358], [100201418, 100201476], [100204420, 100204580], [100206557, 100206709], [100207789, 100207901], [100211616, 100211788], [100214944, 100216302]] [[100153860, 100154031], [100169867, 100169935], [100172289, 100172383], [100181720, 100181848], [100188861, 100188991], [100189992, 100190117], [100191699, 100191811], [100192967, 100193047], [100193812, 100193921], [100196116, 100196249], [100199238, 100199358], [100201418, 100201476], [100204420, 100204580], [100206557, 100206709], [100207789, 100207901], [100211616, 100211788], [100214944, 100215012]]
Promoter
Chrom Start End Description
chr13 100153651 100153664 CAGE_peak_5_at_TM9SF2_5end
chr13 100153665 100153688 CAGE_peak_4_at_TM9SF2_5end
chr13 100153689 100153710 CAGE_peak_3_at_TM9SF2_5end
chr13 100153718 100153734 CAGE_peak_2_at_TM9SF2_5end
chr13 100153737 100153785 CAGE_peak_1_at_TM9SF2_5end
chr13 100153789 100153796 CAGE_peak_6_at_TM9SF2_5end
chr13 100166452 100166468 CAGE_peak_16_at_TM9SF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I099499 99499931 99503521 2.49 [{'connected_gene': 'TM9SF2', 'score': 555.28}, {'connected_gene': 'LINC00449', 'score': 550.77}, {'connected_gene': 'STK24-AS1', 'score': 11.08}, {'connected_gene': 'GPR183', 'score': 7.95}, {'connected_gene': 'ENSG00000280710', 'score': 0.77}, {'connected_gene': 'GC13P099488', 'score': 0.39}, {'connected_gene': 'RNY3P6', 'score': 0.29}, {'connected_gene': 'GC13M099538', 'score': 0.29}]
chr13 GH13I099442 99442407 99442556 0.62 [{'connected_gene': 'TM9SF2', 'score': 13.12}, {'connected_gene': 'LINC00449', 'score': 12.53}, {'connected_gene': 'CCR12P', 'score': 0.29}, {'connected_gene': 'GC13P099473', 'score': 0.29}]
chr13 GH13I099467 99467927 99468056 0.2 [{'connected_gene': 'TM9SF2', 'score': 13.52}, {'connected_gene': 'LINC00449', 'score': 12.79}, {'connected_gene': 'GC13P099473', 'score': 0.44}, {'connected_gene': 'CCR12P', 'score': 0.22}]
chr13 GH13I099545 99545191 99546116 0.38 [{'connected_gene': 'TM9SF2', 'score': 4.55}, {'connected_gene': 'RNY3P6', 'score': 0.44}, {'connected_gene': 'GC13M099538', 'score': 0.44}, {'connected_gene': 'GC13M099563', 'score': 0.34}]
chr13 GH13I099554 99554351 99555952 0.46 [{'connected_gene': 'TM9SF2', 'score': 5.47}, {'connected_gene': 'GC13M099563', 'score': 0.39}, {'connected_gene': 'RNY3P6', 'score': 0.37}, {'connected_gene': 'GC13M099538', 'score': 0.37}]
chr13 GH13I099504 99504401 99504600 0.2 [{'connected_gene': 'TM9SF2', 'score': 0.77}, {'connected_gene': 'GC13P099488', 'score': 0.37}, {'connected_gene': 'RNY3P6', 'score': 0.29}, {'connected_gene': 'GC13M099538', 'score': 0.29}]
chr13 GH13I099464 99464201 99465333 0.69 [{'connected_gene': 'TM9SF2', 'score': 5.21}, {'connected_gene': 'GC13P099473', 'score': 0.44}, {'connected_gene': 'CCR12P', 'score': 0.22}]
chr13 GH13I099484 99484201 99485000 0.94 [{'connected_gene': 'TM9SF2', 'score': 9.12}, {'connected_gene': 'GC13P099488', 'score': 0.77}, {'connected_gene': 'GC13P099473', 'score': 0.39}]
chr13 GH13I099419 99419537 99421121 1.47 [{'connected_gene': 'MIR623', 'score': 11.93}, {'connected_gene': 'GPR18', 'score': 11.8}, {'connected_gene': 'GPR183', 'score': 6.67}, {'connected_gene': 'TM9SF2', 'score': 5.28}, {'connected_gene': 'CCR12P', 'score': 0.39}, {'connected_gene': 'GC13P099473', 'score': 0.23}]
chr13 GH13I099436 99436601 99437495 1.38 [{'connected_gene': 'GPR18', 'score': 15.87}, {'connected_gene': 'TM9SF2', 'score': 11.72}, {'connected_gene': 'LINC00449', 'score': 11.72}, {'connected_gene': 'MIR623', 'score': 11.55}, {'connected_gene': 'STK24', 'score': 10.85}, {'connected_gene': 'CCR12P', 'score': 0.31}, {'connected_gene': 'GC13P099473', 'score': 0.28}]
chr13 GH13I099431 99431311 99436344 1.7 [{'connected_gene': 'GPR18', 'score': 16.2}, {'connected_gene': 'TM9SF2', 'score': 11.72}, {'connected_gene': 'LINC00449', 'score': 11.72}, {'connected_gene': 'MIR623', 'score': 11.55}, {'connected_gene': 'GPR183', 'score': 10.06}, {'connected_gene': 'CCR12P', 'score': 0.34}, {'connected_gene': 'GC13P099473', 'score': 0.26}]
chr13 GH13I099505 99505401 99508409 1.12 [{'connected_gene': 'GPR18', 'score': 10.38}, {'connected_gene': 'TM9SF2', 'score': 7.63}, {'connected_gene': 'DOCK9-AS2', 'score': 4.58}, {'connected_gene': 'GC13P099488', 'score': 0.37}, {'connected_gene': 'RNY3P6', 'score': 0.31}, {'connected_gene': 'GC13M099538', 'score': 0.31}]
chr13 GH13I099423 99423770 99426784 1.39 [{'connected_gene': 'GPR183', 'score': 8.33}, {'connected_gene': 'TM9SF2', 'score': 5.15}, {'connected_gene': 'GPR18', 'score': 4.93}, {'connected_gene': 'CCR12P', 'score': 0.37}, {'connected_gene': 'GC13P099473', 'score': 0.25}]
chr13 GH13I099541 99541624 99544023 0.99 [{'connected_gene': 'CLYBL', 'score': 11.87}, {'connected_gene': 'TM9SF2', 'score': 4.64}, {'connected_gene': 'RNY3P6', 'score': 0.44}, {'connected_gene': 'GC13M099538', 'score': 0.44}, {'connected_gene': 'GC13M099563', 'score': 0.31}]
chr13 GH13I099605 99605224 99607576 2.01 [{'connected_gene': 'CLYBL', 'score': 556.47}, {'connected_gene': 'LOC105370332', 'score': 550.77}, {'connected_gene': 'GPR18', 'score': 9.34}, {'connected_gene': 'TM9SF2', 'score': 4.57}, {'connected_gene': 'GC13M099598', 'score': 0.44}]
chr13 GH13I099495 99495350 99499675 1.74 [{'connected_gene': 'LINC01232', 'score': 550.77}, {'connected_gene': 'ENSG00000280710', 'score': 550.77}, {'connected_gene': 'TM9SF2', 'score': 11.85}, {'connected_gene': 'GC13P099488', 'score': 0.44}]
chr13 GH13I099600 99600387 99600556 0.52 [{'connected_gene': 'GC13M099598', 'score': 550.77}, {'connected_gene': 'CLYBL', 'score': 6.07}, {'connected_gene': 'TM9SF2', 'score': 4.52}, {'connected_gene': 'LOC105370332', 'score': 0.44}]