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
ENST00000394049 [[38810916, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821173, 38821408]] [[38821174, 38821351]]
ENST00000394052 [[38812481, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821393]] [[38812653, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821351]]
ENST00000581564 [[38813460, 38814002], [38816238, 38816459], [38818167, 38818296], [38821173, 38821397]] [[38821174, 38821351]]
ENST00000580719 [[38816409, 38816459], [38818167, 38818347], [38821173, 38821433]] [[38821174, 38821351]]
NM_152349 [[38811871, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821416]] [[38812653, 38812882], [38813603, 38813739], [38813925, 38814002], [38816238, 38816459], [38818167, 38818296], [38821255, 38821351]]
Promoter
Chrom Start End Description
chr17 38821373 38821440 CAGE_peak_1_at_KRT222_5end,CAGE_peak_2_at_SMARCE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I040478 40478436 40502480 2.24 [{'connected_gene': 'TNS4', 'score': 557.7}, {'connected_gene': 'SNORD124', 'score': 36.8}, {'connected_gene': 'SMARCE1', 'score': 21.15}, {'connected_gene': 'MED24', 'score': 20.14}, {'connected_gene': 'IGFBP4', 'score': 15.8}, {'connected_gene': 'KRT10', 'score': 12.49}, {'connected_gene': 'RPL23AP75', 'score': 11.48}, {'connected_gene': 'TOP2A', 'score': 10.93}, {'connected_gene': 'RAPGEFL1', 'score': 7.1}, {'connected_gene': 'CDC6', 'score': 4.77}, {'connected_gene': 'ORMDL3', 'score': 4.69}, {'connected_gene': 'WIPF2', 'score': 4.15}, {'connected_gene': 'THRA', 'score': 3.32}, {'connected_gene': 'KRT222', 'score': 2.7}, {'connected_gene': 'KRT24', 'score': 2.15}, {'connected_gene': 'MSL1', 'score': 1.92}, {'connected_gene': 'GJD3', 'score': 1.29}, {'connected_gene': 'GC17P040488', 'score': 0.77}]
chr17 GH17I040857 40857129 40857400 0.99 [{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17 GH17I040660 40660849 40661219 0.22 [{'connected_gene': 'SMARCE1', 'score': 23.71}, {'connected_gene': 'KRT24', 'score': 22.1}, {'connected_gene': 'KRT222', 'score': 0.77}, {'connected_gene': 'ENSG00000264058', 'score': 0.77}]
chr17 GH17I040628 40628645 40630612 0.2 [{'connected_gene': 'SMARCE1', 'score': 21.64}, {'connected_gene': 'KRT222', 'score': 10.24}, {'connected_gene': 'PIR34828', 'score': 0.77}, {'connected_gene': 'GC17P040641', 'score': 0.39}, {'connected_gene': 'ENSG00000264058', 'score': 0.28}]
chr17 GH17I040601 40601570 40609705 1.55 [{'connected_gene': 'SMARCE1', 'score': 37.86}, {'connected_gene': 'CCR7', 'score': 19.79}, {'connected_gene': 'KRT222', 'score': 10.31}, {'connected_gene': 'RAPGEFL1', 'score': 6.02}, {'connected_gene': 'RARA', 'score': 1.93}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'KRTAP3-2', 'score': 1.16}, {'connected_gene': 'WIPF2', 'score': 1.14}, {'connected_gene': 'ENSG00000279775', 'score': 0.44}, {'connected_gene': 'GC17M040594', 'score': 0.39}]
chr17 GH17I039753 39753044 39760144 1.8 [{'connected_gene': 'GSDMB', 'score': 24.55}, {'connected_gene': 'ORMDL3', 'score': 20.45}, {'connected_gene': 'THRA', 'score': 15.86}, {'connected_gene': 'IKZF3', 'score': 14.78}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'SNORD124', 'score': 10.06}, {'connected_gene': 'MED24', 'score': 4.67}, {'connected_gene': 'STARD3', 'score': 3.92}, {'connected_gene': 'FBXL20', 'score': 3.46}, {'connected_gene': 'CDK12', 'score': 2.41}, {'connected_gene': 'WIPF2', 'score': 2.04}, {'connected_gene': 'CASC3', 'score': 1.46}, {'connected_gene': 'GC17M039760', 'score': 0.44}, {'connected_gene': 'GRB7', 'score': 0.37}]
chr17 GH17I040803 40803649 40803798 0.89 [{'connected_gene': 'KRT27', 'score': 10.83}, {'connected_gene': 'KRT26', 'score': 9.99}, {'connected_gene': 'KRT222', 'score': 9.11}, {'connected_gene': 'SMARCE1', 'score': 9.1}, {'connected_gene': 'LOC105371776', 'score': 0.77}, {'connected_gene': 'GC17M040770', 'score': 0.77}]
chr17 GH17I040138 40138723 40141954 2.13 [{'connected_gene': 'CASC3', 'score': 557.34}, {'connected_gene': 'GC17M040140', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 134.31}, {'connected_gene': 'SNORD124', 'score': 91.71}, {'connected_gene': 'SMARCE1', 'score': 89.67}, {'connected_gene': 'CDK12', 'score': 78.87}, {'connected_gene': 'MED24', 'score': 62.65}, {'connected_gene': 'MSL1', 'score': 23.36}, {'connected_gene': 'STARD3', 'score': 20.38}, {'connected_gene': 'IGFBP4', 'score': 19.14}, {'connected_gene': 'RPL19', 'score': 18.87}, {'connected_gene': 'THRA', 'score': 15.98}, {'connected_gene': 'ENSG00000264968', 'score': 10.31}, {'connected_gene': 'KRT222', 'score': 10.28}, {'connected_gene': 'RARA', 'score': 9.85}, {'connected_gene': 'FBXL20', 'score': 9.71}, {'connected_gene': 'ENSG00000266208', 'score': 7.04}, {'connected_gene': 'GC17P040124', 'score': 0.37}, {'connected_gene': 'MIR6866', 'score': 0.34}]
chr17 GH17I040707 40707518 40708949 0.67 [{'connected_gene': 'KRT24', 'score': 36.16}, {'connected_gene': 'KRT27', 'score': 10.24}, {'connected_gene': 'KRT222', 'score': 10.2}, {'connected_gene': 'SMARCE1', 'score': 10.16}, {'connected_gene': 'KRT37', 'score': 9.14}, {'connected_gene': 'KRT223P', 'score': 0.39}]
chr17 GH17I040726 40726970 40728820 0.72 [{'connected_gene': 'KRT24', 'score': 11.96}, {'connected_gene': 'TMEM99', 'score': 10.93}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRT222', 'score': 9.51}, {'connected_gene': 'SMARCE1', 'score': 9.49}, {'connected_gene': 'KRT37', 'score': 9.03}, {'connected_gene': 'KRT223P', 'score': 0.44}, {'connected_gene': 'KRT25', 'score': 0.31}]
chr17 GH17I040846 40846920 40847005 0.58 [{'connected_gene': 'TMEM99', 'score': 34.99}, {'connected_gene': 'KRT10', 'score': 16.52}, {'connected_gene': 'KRT28', 'score': 10.62}, {'connected_gene': 'KRT27', 'score': 9.96}, {'connected_gene': 'KRT26', 'score': 9.59}, {'connected_gene': 'ENSG00000234477', 'score': 9.5}, {'connected_gene': 'KRT222', 'score': 8.91}, {'connected_gene': 'SMARCE1', 'score': 8.91}, {'connected_gene': 'KRTAP2-1', 'score': 1.71}, {'connected_gene': 'LOC105371777', 'score': 0.77}, {'connected_gene': 'PIR55120', 'score': 0.39}]
chr17 GH17I040217 40217716 40220601 2.34 [{'connected_gene': 'WIPF2', 'score': 552.71}, {'connected_gene': 'MED1', 'score': 45.8}, {'connected_gene': 'CDK12', 'score': 41.29}, {'connected_gene': 'SMARCE1', 'score': 39.19}, {'connected_gene': 'RAPGEFL1', 'score': 19.61}, {'connected_gene': 'PGAP3', 'score': 13.71}, {'connected_gene': 'MSL1', 'score': 12.22}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'IGFBP4', 'score': 10.11}, {'connected_gene': 'ENSG00000266208', 'score': 9.33}, {'connected_gene': 'KRT222', 'score': 8.63}, {'connected_gene': 'THRA', 'score': 4.17}, {'connected_gene': 'NR1D1', 'score': 1.52}, {'connected_gene': 'RARA', 'score': 1.36}, {'connected_gene': 'MIR6867', 'score': 0.31}, {'connected_gene': 'GC17P040124', 'score': 0.16}]
chr17 GH17I040633 40632389 40632538 0.2 [{'connected_gene': 'KRT222', 'score': 10.25}, {'connected_gene': 'SMARCE1', 'score': 4.87}, {'connected_gene': 'PIR34828', 'score': 0.44}, {'connected_gene': 'GC17P040641', 'score': 0.44}, {'connected_gene': 'ENSG00000264058', 'score': 0.29}]
chr17 GH17I040664 40664801 40665000 0.59 [{'connected_gene': 'KRT222', 'score': 550.77}, {'connected_gene': 'ENSG00000264058', 'score': 550.77}, {'connected_gene': 'PIR54879', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 0.37}]
chr17 GH17I040632 40632968 40634131 0.2 [{'connected_gene': 'KRT222', 'score': 10.25}, {'connected_gene': 'PIR34828', 'score': 0.44}, {'connected_gene': 'GC17P040641', 'score': 0.44}, {'connected_gene': 'SMARCE1', 'score': 0.39}, {'connected_gene': 'ENSG00000264058', 'score': 0.29}]
chr17 GH17I040665 40665154 40665213 0.87 [{'connected_gene': 'KRT222', 'score': 550.77}, {'connected_gene': 'ENSG00000264058', 'score': 550.77}, {'connected_gene': 'PIR54879', 'score': 550.77}]
chr17 GH17I040626 40626760 40628544 0.43 [{'connected_gene': 'PIR34828', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 10.6}, {'connected_gene': 'KRT222', 'score': 10.54}, {'connected_gene': 'GC17P040641', 'score': 0.39}]
chr17 GH17I040600 40600292 40600759 0.2 [{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 28.89}, {'connected_gene': 'CCR7', 'score': 16.13}, {'connected_gene': 'KRT222', 'score': 10.3}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17 GH17I040595 40595775 40600078 1.62 [{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 42.57}, {'connected_gene': 'CCR7', 'score': 18.01}, {'connected_gene': 'SNORD124', 'score': 10.43}, {'connected_gene': 'KRT222', 'score': 9.86}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'RARA', 'score': 4.1}, {'connected_gene': 'WIPF2', 'score': 2.15}, {'connected_gene': 'KRTAP3-2', 'score': 1.55}, {'connected_gene': 'CASC3', 'score': 1.42}, {'connected_gene': 'KRTAP2-1', 'score': 1.25}, {'connected_gene': 'KRTAP2-2', 'score': 1.21}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17 GH17I040470 40470419 40477221 1.38 [{'connected_gene': 'GC17P040474', 'score': 550.77}, {'connected_gene': 'ENSG00000279806', 'score': 550.77}, {'connected_gene': 'GC17M040474', 'score': 550.77}, {'connected_gene': 'GC17P040473', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 32.78}, {'connected_gene': 'SNORD124', 'score': 23.32}, {'connected_gene': 'THRA', 'score': 15.85}, {'connected_gene': 'STARD3', 'score': 12.22}, {'connected_gene': 'IGFBP4', 'score': 11.04}, {'connected_gene': 'MED24', 'score': 10.42}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'CDC6', 'score': 5.2}, {'connected_gene': 'TNS4', 'score': 0.31}]
chr17 GH17I041618 41618489 41619648 0.56 [{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'ENSG00000259623', 'score': 12.34}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'HSD17B1P1', 'score': 9.91}, {'connected_gene': 'KRT16', 'score': 7.11}, {'connected_gene': 'KRT17', 'score': 0.44}]
chr17 GH17I040809 40809645 40811306 0.9 [{'connected_gene': 'GC17P040810', 'score': 550.77}, {'connected_gene': 'KRT222', 'score': 9.32}, {'connected_gene': 'SMARCE1', 'score': 9.3}, {'connected_gene': 'TMEM99', 'score': 7.39}, {'connected_gene': 'MED24', 'score': 6.21}, {'connected_gene': 'LOC105371776', 'score': 0.44}]