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
ENST00000530758 [[10157275, 10157503], [10167309, 10167392], [10167952, 10168874]] [[10157385, 10157503], [10167309, 10167392], [10167952, 10167979]]
ENST00000256463 [[10157375, 10157503], [10167309, 10167392], [10167952, 10167973], [10167977, 10168601]] [[10157385, 10157503], [10167309, 10167392], [10167952, 10167973], [10167977, 10168073]]
NM_018462 [[10157332, 10157503], [10167309, 10167392], [10167952, 10168874]] [[10157385, 10157503], [10167309, 10167392], [10167952, 10167979]]
Promoter
Chrom Start End Description
chr3 10157350 10157377 CAGE_peak_1_at_BRK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I009768 9768194 9771286 1.94 [{'connected_gene': 'CAMK1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 12.82}, {'connected_gene': 'PRRT3', 'score': 11.21}, {'connected_gene': 'TTLL3', 'score': 9.62}, {'connected_gene': 'RPUSD3', 'score': 6.55}, {'connected_gene': 'OGG1', 'score': 0.37}]
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 GH03I010141 10141121 10144089 2.07 [{'connected_gene': 'VHL', 'score': 557.73}, {'connected_gene': 'GC03P010141', 'score': 550.77}, {'connected_gene': 'GC03P010143', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 29.76}, {'connected_gene': 'FANCD2', 'score': 25.22}, {'connected_gene': 'CRELD1', 'score': 22.8}, {'connected_gene': 'GHRLOS', 'score': 13.22}, {'connected_gene': 'THUMPD3', 'score': 11.85}, {'connected_gene': 'SETD5', 'score': 11.06}, {'connected_gene': 'SEC13', 'score': 11.02}, {'connected_gene': 'TTLL3', 'score': 10.52}, {'connected_gene': 'BRK1', 'score': 6.21}, {'connected_gene': 'GC03P010140', 'score': 0.77}, {'connected_gene': 'IRAK2', 'score': 0.34}]
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 GH03I009954 9954979 9956566 0.85 [{'connected_gene': 'BRK1', 'score': 16.29}, {'connected_gene': 'FANCD2', 'score': 12.19}, {'connected_gene': 'ENSG00000269982', 'score': 0.77}, {'connected_gene': 'PRRT3', 'score': 0.77}]
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 GH03I009985 9985889 9988375 2.1 [{'connected_gene': 'EMC3-AS1', 'score': 550.77}, {'connected_gene': 'EMC3', 'score': 550.34}, {'connected_gene': 'FANCD2', 'score': 22.03}, {'connected_gene': 'BRPF1', 'score': 19.85}, {'connected_gene': 'BRK1', 'score': 15.69}, {'connected_gene': 'GHRLOS', 'score': 13.16}, {'connected_gene': 'RNU6-670P', 'score': 12.35}, {'connected_gene': 'FANCD2OS', 'score': 11.73}, {'connected_gene': 'PRRT3', 'score': 11.48}, {'connected_gene': 'SETD5', 'score': 11.07}, {'connected_gene': 'RPUSD3', 'score': 11.06}, {'connected_gene': 'SEC13', 'score': 10.98}, {'connected_gene': 'GHRL', 'score': 10.5}, {'connected_gene': 'TTLL3', 'score': 10.31}, {'connected_gene': 'CRELD1', 'score': 7.35}, {'connected_gene': 'FANCD2P1', 'score': 0.44}]
chr3 GH03I010470 10470578 10471457 1.17 [{'connected_gene': 'BRPF1', 'score': 15.01}, {'connected_gene': 'BRK1', 'score': 10.63}, {'connected_gene': 'GC03P010586', 'score': 0.28}, {'connected_gene': 'GC03M010552', 'score': 0.18}, {'connected_gene': 'ATP2B2', 'score': 0.07}]
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 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 GH03I009995 9994601 9994800 0.31 [{'connected_gene': 'FANCD2P1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 15.69}, {'connected_gene': 'CIDECP', 'score': 12.29}, {'connected_gene': 'FANCD2', 'score': 12.29}, {'connected_gene': 'RNU6-670P', 'score': 11.9}, {'connected_gene': 'ENSG00000206567', 'score': 4.85}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'CYCSP10', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.37}]
chr3 GH03I009994 9994033 9994496 0.51 [{'connected_gene': 'FANCD2P1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 14.58}, {'connected_gene': 'CIDECP', 'score': 12.29}, {'connected_gene': 'FANCD2', 'score': 12.29}, {'connected_gene': 'RNU6-670P', 'score': 11.9}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'CYCSP10', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.37}]
chr3 GH03I009213 9213997 9215944 0.84 [{'connected_gene': 'SRGAP3-AS3', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 4.98}, {'connected_gene': 'SRGAP3-AS2', 'score': 0.34}, {'connected_gene': 'SRGAP3', 'score': 0.11}]
chr3 GH03I010169 10169822 10171895 0.56 [{'connected_gene': 'GHRLOS', 'score': 8.41}, {'connected_gene': 'BRK1', 'score': 4.97}, {'connected_gene': 'IRAK2', 'score': 0.44}, {'connected_gene': 'GC03M010202', 'score': 0.28}]
chr3 GH03I010134 10134517 10134666 0.79 [{'connected_gene': 'GC03P010136', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 0.37}]
chr3 GH03I010135 10134429 10134446 0.72 [{'connected_gene': 'GC03P010136', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 0.37}]
chr3 GH03I010137 10137357 10137466 0.69 [{'connected_gene': 'GC03P010136', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 12.07}, {'connected_gene': 'GC03P010140', 'score': 0.77}]
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}]

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