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
ENST00000307768 [[9932237, 9932495], [9934598, 9936033]] [[9932406, 9932495], [9934598, 9935061]]
ENST00000489724 [[9932316, 9932495], [9934492, 9934655]] None
NM_032492 [[9932270, 9932495], [9934598, 9936033]] [[9932406, 9932495], [9934598, 9935061]]
Promoter
Chrom Start End Description
chr3 9932252 9932263 CAGE_peak_3_at_JAGN1_5end
chr3 9932272 9932313 CAGE_peak_1_at_JAGN1_5end
chr3 9932317 9932344 CAGE_peak_2_at_JAGN1_5end
chr3 9932348 9932359 CAGE_peak_4_at_JAGN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I010247 10247728 10250724 2.26 [{'connected_gene': 'TATDN2', 'score': 550.77}, {'connected_gene': 'PIR57492', 'score': 550.77}, {'connected_gene': 'PIR45247', 'score': 550.77}, {'connected_gene': 'PIR49172', 'score': 550.77}, {'connected_gene': 'PIR36484', 'score': 550.77}, {'connected_gene': 'ENSG00000272410', 'score': 550.77}, {'connected_gene': 'PIR32642', 'score': 550.77}, {'connected_gene': 'GHRLOS', 'score': 21.04}, {'connected_gene': 'GHRL', 'score': 11.88}, {'connected_gene': 'IRAK2', 'score': 11.83}, {'connected_gene': 'FANCD2OS', 'score': 11.58}, {'connected_gene': 'VHL', 'score': 11.5}, {'connected_gene': 'SEC13', 'score': 10.7}, {'connected_gene': 'IL17RE', 'score': 10.17}, {'connected_gene': 'JAGN1', 'score': 10.15}, {'connected_gene': 'TADA3', 'score': 9.97}, {'connected_gene': 'ARPC4', 'score': 9.97}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.97}, {'connected_gene': 'PRRT3', 'score': 9.84}, {'connected_gene': 'RPUSD3', 'score': 9.72}]
chr3 GH03I009861 9861190 9866062 1.62 [{'connected_gene': 'IL17RC', 'score': 37.28}, {'connected_gene': 'JAGN1', 'score': 33.62}, {'connected_gene': 'CIDEC', 'score': 25.99}, {'connected_gene': 'TADA3', 'score': 14.1}, {'connected_gene': 'IL17RE', 'score': 13.67}, {'connected_gene': 'FANCD2', 'score': 13.55}, {'connected_gene': 'ARPC4', 'score': 12.18}, {'connected_gene': 'RNU6-882P', 'score': 11.98}, {'connected_gene': 'THUMPD3', 'score': 11.85}, {'connected_gene': 'TTLL3', 'score': 11.12}, {'connected_gene': 'BRPF1', 'score': 11.06}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.72}, {'connected_gene': 'CAMK1', 'score': 10.51}, {'connected_gene': 'CPNE9', 'score': 10.32}, {'connected_gene': 'FANCD2OS', 'score': 10.28}, {'connected_gene': 'CRELD1', 'score': 6.65}, {'connected_gene': 'RPUSD3', 'score': 1.77}, {'connected_gene': 'OGG1', 'score': 1.31}, {'connected_gene': 'MARK2P1', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.23}]
chr3 GH03I009893 9893775 9894986 0.84 [{'connected_gene': 'IL17RC', 'score': 23.46}, {'connected_gene': 'JAGN1', 'score': 19.95}, {'connected_gene': 'GC03P009922', 'score': 0.77}, {'connected_gene': 'GC03M009835', 'score': 0.34}]
chr3 GH03I009888 9888677 9888826 0.7 [{'connected_gene': 'JAGN1', 'score': 550.77}, {'connected_gene': 'CIDEC', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.31}]
chr3 GH03I009889 9889617 9892018 2.28 [{'connected_gene': 'JAGN1', 'score': 576.7}, {'connected_gene': 'BRPF1', 'score': 50.39}, {'connected_gene': 'RAD18', 'score': 45.77}, {'connected_gene': 'SETD5', 'score': 35.53}, {'connected_gene': 'FANCD2', 'score': 23.37}, {'connected_gene': 'TTLL3', 'score': 22.61}, {'connected_gene': 'GHRLOS', 'score': 20.89}, {'connected_gene': 'BRK1', 'score': 12.84}, {'connected_gene': 'PRRT3', 'score': 10.44}, {'connected_gene': 'LINC00852', 'score': 10.43}, {'connected_gene': 'SEC13', 'score': 10.31}, {'connected_gene': 'IL17RC', 'score': 8.3}, {'connected_gene': 'GC03P009922', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.31}]
chr3 GH03I009870 9870602 9871728 0.87 [{'connected_gene': 'JAGN1', 'score': 16.51}, {'connected_gene': 'IL17RE', 'score': 12.79}, {'connected_gene': 'RPUSD3', 'score': 12.16}, {'connected_gene': 'IL17RC', 'score': 12.07}, {'connected_gene': 'RNU6-882P', 'score': 12.07}, {'connected_gene': 'TTLL3', 'score': 10.92}, {'connected_gene': 'FANCD2', 'score': 10.91}, {'connected_gene': 'ARPC4', 'score': 10.44}, {'connected_gene': 'TADA3', 'score': 10.44}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.44}, {'connected_gene': 'BRPF1', 'score': 10.14}, {'connected_gene': 'PRRT3', 'score': 10.04}, {'connected_gene': 'CRELD1', 'score': 6.41}, {'connected_gene': 'CIDEC', 'score': 0.44}, {'connected_gene': 'MARK2P1', 'score': 0.37}, {'connected_gene': 'GC03M009835', 'score': 0.25}]
chr3 GH03I009648 9648707 9650873 2.07 [{'connected_gene': 'MTMR14', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 29.68}, {'connected_gene': 'SETD5', 'score': 17.08}, {'connected_gene': 'RAD18', 'score': 14.75}, {'connected_gene': 'JAGN1', 'score': 13.73}, {'connected_gene': 'THUMPD3', 'score': 12.05}, {'connected_gene': 'GHRLOS', 'score': 11.11}, {'connected_gene': 'RPUSD3', 'score': 10.81}, {'connected_gene': 'FANCD2', 'score': 10.64}, {'connected_gene': 'SEC13', 'score': 10.46}, {'connected_gene': 'CPNE9', 'score': 0.23}]
chr3 GH03I010318 10318755 10321786 2.11 [{'connected_gene': 'SEC13', 'score': 561.82}, {'connected_gene': 'GHRLOS', 'score': 23.07}, {'connected_gene': 'SETD5', 'score': 19.38}, {'connected_gene': 'BRPF1', 'score': 18.39}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.04}, {'connected_gene': 'JAGN1', 'score': 9.76}, {'connected_gene': 'PIR35584', 'score': 0.39}, {'connected_gene': 'GC03P010614', 'score': 0.29}]
chr3 GH03I009883 9883307 9885475 1.58 [{'connected_gene': 'CIDEC', 'score': 36.21}, {'connected_gene': 'IL17RC', 'score': 34.04}, {'connected_gene': 'JAGN1', 'score': 24.82}, {'connected_gene': 'TADA3', 'score': 3.43}, {'connected_gene': 'IL17RE', 'score': 2.52}, {'connected_gene': 'RPUSD3', 'score': 1.82}, {'connected_gene': 'ARPC4', 'score': 1.39}, {'connected_gene': 'GC03M009835', 'score': 0.29}]
chr3 GH03I009880 9880241 9880300 0.99 [{'connected_gene': 'CIDEC', 'score': 550.77}, {'connected_gene': 'JAGN1', 'score': 0.39}, {'connected_gene': 'GC03M009835', 'score': 0.28}]
chr3 GH03I010014 10014537 10016599 0.82 [{'connected_gene': 'BRK1', 'score': 13.97}, {'connected_gene': 'IL17RC', 'score': 11.22}, {'connected_gene': 'RNU6-882P', 'score': 11.22}, {'connected_gene': 'IL17RE', 'score': 11.2}, {'connected_gene': 'RNU6-670P', 'score': 11.14}, {'connected_gene': 'PRRT3', 'score': 10.96}, {'connected_gene': 'JAGN1', 'score': 10.86}, {'connected_gene': 'GHRL', 'score': 10.72}, {'connected_gene': 'FANCD2OS', 'score': 10.68}, {'connected_gene': 'RPUSD3', 'score': 10.43}, {'connected_gene': 'IRAK2', 'score': 10.38}, {'connected_gene': 'TTLL3', 'score': 9.74}, {'connected_gene': 'MARK2P2', 'score': 0.77}, {'connected_gene': 'CIDECP', 'score': 0.39}]
chr3 GH03I010017 10017516 10018706 0.46 [{'connected_gene': 'BRK1', 'score': 12.26}, {'connected_gene': 'CRELD1', 'score': 11.6}, {'connected_gene': 'RNU6-882P', 'score': 11.22}, {'connected_gene': 'IL17RC', 'score': 11.21}, {'connected_gene': 'IL17RE', 'score': 11.19}, {'connected_gene': 'PRRT3', 'score': 10.96}, {'connected_gene': 'GHRL', 'score': 10.72}, {'connected_gene': 'FANCD2OS', 'score': 10.68}, {'connected_gene': 'JAGN1', 'score': 10.33}, {'connected_gene': 'IRAK2', 'score': 10.23}, {'connected_gene': 'TTLL3', 'score': 9.74}, {'connected_gene': 'MARK2P2', 'score': 0.44}, {'connected_gene': 'CIDECP', 'score': 0.44}]
chr3 GH03I010114 10114828 10117218 2.06 [{'connected_gene': 'BRK1', 'score': 578.66}, {'connected_gene': 'BRPF1', 'score': 23.26}, {'connected_gene': 'TTLL3', 'score': 21.25}, {'connected_gene': 'SETD5', 'score': 16.45}, {'connected_gene': 'SEC13', 'score': 11.25}, {'connected_gene': 'FANCD2', 'score': 10.86}, {'connected_gene': 'GHRLOS', 'score': 10.46}, {'connected_gene': 'LINC00852', 'score': 10.28}, {'connected_gene': 'JAGN1', 'score': 10.28}, {'connected_gene': 'GC03P010136', 'score': 0.34}]
chr3 GH03I009969 9969155 9971726 0.69 [{'connected_gene': 'BRK1', 'score': 15.74}, {'connected_gene': 'FANCD2OS', 'score': 15.04}, {'connected_gene': 'IL17RC', 'score': 11.15}, {'connected_gene': 'RNU6-882P', 'score': 11.15}, {'connected_gene': 'IL17RE', 'score': 11.12}, {'connected_gene': 'CIDECP', 'score': 10.75}, {'connected_gene': 'FANCD2', 'score': 10.75}, {'connected_gene': 'VHL', 'score': 10.58}, {'connected_gene': 'RPUSD3', 'score': 10.54}, {'connected_gene': 'JAGN1', 'score': 10.42}, {'connected_gene': 'RNU6-670P', 'score': 10.4}, {'connected_gene': 'TTLL3', 'score': 10.03}, {'connected_gene': 'IRAK2', 'score': 9.97}, {'connected_gene': 'TADA3', 'score': 9.68}, {'connected_gene': 'ARPC4', 'score': 9.68}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.68}, {'connected_gene': 'PIR52243', 'score': 0.44}, {'connected_gene': 'PIR57234', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.26}]
chr3 GH03I009394 9394089 9403893 2.34 [{'connected_gene': 'SETD5', 'score': 635.98}, {'connected_gene': 'THUMPD3-AS1', 'score': 577.65}, {'connected_gene': 'GC03P009403', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 126.97}, {'connected_gene': 'RAD18', 'score': 89.41}, {'connected_gene': 'GHRLOS', 'score': 40.99}, {'connected_gene': 'TTLL3', 'score': 40.01}, {'connected_gene': 'FANCD2', 'score': 39.59}, {'connected_gene': 'JAGN1', 'score': 31.13}, {'connected_gene': 'SEC13', 'score': 29.09}, {'connected_gene': 'SRGAP3', 'score': 21.03}, {'connected_gene': 'THUMPD3', 'score': 20.58}, {'connected_gene': 'LINC00852', 'score': 18.9}, {'connected_gene': 'TATDN2', 'score': 12.94}, {'connected_gene': 'EMC3-AS1', 'score': 12.79}, {'connected_gene': 'BRK1', 'score': 11.02}, {'connected_gene': 'ENSG00000269886', 'score': 10.92}, {'connected_gene': 'RPUSD3', 'score': 10.77}, {'connected_gene': 'OGG1', 'score': 10.51}]
chr3 GH03I010188 10188774 10200915 1.86 [{'connected_gene': 'BRPF1', 'score': 82.83}, {'connected_gene': 'SETD5', 'score': 73.25}, {'connected_gene': 'IRAK2', 'score': 60.93}, {'connected_gene': 'GHRLOS', 'score': 48.14}, {'connected_gene': 'LINC00852', 'score': 30.38}, {'connected_gene': 'TATDN2', 'score': 26.94}, {'connected_gene': 'FANCD2', 'score': 22.57}, {'connected_gene': 'GHRL', 'score': 19.15}, {'connected_gene': 'TTLL3', 'score': 18.85}, {'connected_gene': 'SEC13', 'score': 18.54}, {'connected_gene': 'VHL', 'score': 18.5}, {'connected_gene': 'JAGN1', 'score': 13.72}, {'connected_gene': 'EMC3-AS1', 'score': 12.84}, {'connected_gene': 'CYCSP10', 'score': 12.78}, {'connected_gene': 'ENSG00000206567', 'score': 11.58}, {'connected_gene': 'THUMPD3', 'score': 11.34}, {'connected_gene': 'FANCD2OS', 'score': 11.3}, {'connected_gene': 'PRRT3', 'score': 11.19}, {'connected_gene': 'BRK1', 'score': 10.76}, {'connected_gene': 'ENSG00000269894', 'score': 10.57}, {'connected_gene': 'OGG1', 'score': 10.5}, {'connected_gene': 'RPUSD3', 'score': 10.16}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.12}, {'connected_gene': 'CAMK1', 'score': 5.94}, {'connected_gene': 'ARPC4', 'score': 1.57}, {'connected_gene': 'GC03M010202', 'score': 0.39}]
chr3 GH03I010024 10024894 10027610 2.12 [{'connected_gene': 'FANCD2', 'score': 569.99}, {'connected_gene': 'CIDECP', 'score': 556.57}, {'connected_gene': 'BRPF1', 'score': 32.62}, {'connected_gene': 'SETD5', 'score': 25.68}, {'connected_gene': 'GHRLOS', 'score': 21.79}, {'connected_gene': 'SEC13', 'score': 20.44}, {'connected_gene': 'BRK1', 'score': 16.76}, {'connected_gene': 'FANCD2OS', 'score': 13.67}, {'connected_gene': 'CRELD1', 'score': 12.45}, {'connected_gene': 'CYCSP10', 'score': 12.22}, {'connected_gene': 'TTLL3', 'score': 11.3}, {'connected_gene': 'JAGN1', 'score': 10.32}, {'connected_gene': 'MARK2P2', 'score': 0.39}]
chr3 GH03I009896 9896101 9904314 1.96 [{'connected_gene': 'IL17RE', 'score': 557.0}, {'connected_gene': 'GC03P009922', 'score': 550.77}, {'connected_gene': 'GC03P009923', 'score': 550.77}, {'connected_gene': 'IL17RC', 'score': 26.19}, {'connected_gene': 'JAGN1', 'score': 19.2}, {'connected_gene': 'FANCD2', 'score': 13.58}, {'connected_gene': 'CRELD1', 'score': 12.07}, {'connected_gene': 'PRRT3-AS1', 'score': 12.03}, {'connected_gene': 'RPUSD3', 'score': 11.25}, {'connected_gene': 'PRRT3', 'score': 11.1}, {'connected_gene': 'BRPF1', 'score': 11.05}, {'connected_gene': 'TTLL3', 'score': 10.45}, {'connected_gene': 'TADA3', 'score': 10.32}, {'connected_gene': 'ARPC4', 'score': 10.32}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.32}, {'connected_gene': 'GC03M009835', 'score': 0.37}]
chr3 GH03I010085 10085877 10086026 0.52 [{'connected_gene': 'FANCD2OS', 'score': 12.74}, {'connected_gene': 'VHL', 'score': 11.09}, {'connected_gene': 'RNU6-670P', 'score': 10.96}, {'connected_gene': 'FANCD2', 'score': 10.93}, {'connected_gene': 'IRAK2', 'score': 10.85}, {'connected_gene': 'PRRT3', 'score': 10.05}, {'connected_gene': 'IL17RE', 'score': 9.84}, {'connected_gene': 'JAGN1', 'score': 9.84}, {'connected_gene': 'ARPC4', 'score': 9.47}, {'connected_gene': 'TADA3', 'score': 9.47}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.47}, {'connected_gene': 'GC03M010064', 'score': 0.44}]
chr3 GH03I010023 10023203 10024713 0.59 [{'connected_gene': 'FANCD2OS', 'score': 17.56}, {'connected_gene': 'BRK1', 'score': 16.61}, {'connected_gene': 'RNU6-882P', 'score': 11.21}, {'connected_gene': 'IL17RC', 'score': 11.21}, {'connected_gene': 'IL17RE', 'score': 11.19}, {'connected_gene': 'PRRT3', 'score': 10.95}, {'connected_gene': 'GHRL', 'score': 10.73}, {'connected_gene': 'JAGN1', 'score': 10.32}, {'connected_gene': 'IRAK2', 'score': 10.23}, {'connected_gene': 'TTLL3', 'score': 9.74}, {'connected_gene': 'CIDECP', 'score': 0.77}, {'connected_gene': 'MARK2P2', 'score': 0.39}]
chr3 GH03I009791 9791198 9796007 2.08 [{'connected_gene': 'TADA3', 'score': 563.05}, {'connected_gene': 'ARPC4', 'score': 550.77}, {'connected_gene': 'ARPC4-TTLL3', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 46.31}, {'connected_gene': 'RAD18', 'score': 38.0}, {'connected_gene': 'SETD5', 'score': 37.02}, {'connected_gene': 'TTLL3', 'score': 19.95}, {'connected_gene': 'JAGN1', 'score': 13.82}, {'connected_gene': 'BRK1', 'score': 11.05}, {'connected_gene': 'SEC13', 'score': 10.46}, {'connected_gene': 'GHRLOS', 'score': 10.19}, {'connected_gene': 'RPUSD3', 'score': 5.32}, {'connected_gene': 'CRELD1', 'score': 4.49}]
chr3 GH03I010008 10008675 10011786 1.43 [{'connected_gene': 'ENSG00000206567', 'score': 550.77}, {'connected_gene': 'EMC3', 'score': 550.77}, {'connected_gene': 'JAGN1', 'score': 24.53}, {'connected_gene': 'SETD5', 'score': 17.04}, {'connected_gene': 'BRPF1', 'score': 14.67}, {'connected_gene': 'BRK1', 'score': 14.41}, {'connected_gene': 'RNU6-670P', 'score': 11.12}, {'connected_gene': 'FANCD2', 'score': 11.04}, {'connected_gene': 'IL17RE', 'score': 10.88}, {'connected_gene': 'PRRT3', 'score': 10.81}, {'connected_gene': 'SEC13', 'score': 10.49}, {'connected_gene': 'IRAK2', 'score': 10.37}, {'connected_gene': 'RPUSD3', 'score': 10.14}, {'connected_gene': 'CRELD1', 'score': 7.13}, {'connected_gene': 'FANCD2OS', 'score': 6.93}, {'connected_gene': 'PIR31706', 'score': 0.77}]
chr3 GH03I009975 9975795 9980631 1.47 [{'connected_gene': 'PIR57234', 'score': 550.77}, {'connected_gene': 'FANCD2', 'score': 22.17}, {'connected_gene': 'TTLL3', 'score': 21.73}, {'connected_gene': 'BRPF1', 'score': 19.79}, {'connected_gene': 'THUMPD3-AS1', 'score': 19.48}, {'connected_gene': 'BRK1', 'score': 16.36}, {'connected_gene': 'SETD5', 'score': 15.45}, {'connected_gene': 'PRRT3', 'score': 11.75}, {'connected_gene': 'CIDECP', 'score': 11.48}, {'connected_gene': 'ENSG00000269894', 'score': 11.31}, {'connected_gene': 'IL17RE', 'score': 11.1}, {'connected_gene': 'RPUSD3', 'score': 10.94}, {'connected_gene': 'VHL', 'score': 10.83}, {'connected_gene': 'JAGN1', 'score': 10.55}, {'connected_gene': 'LINC00852', 'score': 10.24}, {'connected_gene': 'TADA3', 'score': 10.12}, {'connected_gene': 'ARPC4', 'score': 10.12}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.12}, {'connected_gene': 'GHRL', 'score': 10.11}, {'connected_gene': 'IRAK2', 'score': 9.9}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.29}]