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
ENST00000469143 [[74943119, 74943334], [75003600, 75003687], [75005679, 75005739]] None
ENST00000453189 [[74998527, 74999136], [75001419, 75001518], [75003102, 75003156]] None
ENST00000372950 [[75002581, 75003277], [75003600, 75003687], [75005679, 75005934], [75006445, 75006586], [75006767, 75008620]] [[75003157, 75003277], [75003600, 75003687], [75005679, 75005934], [75006445, 75006586], [75006767, 75006947]]
ENST00000512551 [[75007099, 75007262], [75007566, 75008026]] None
NM_015190 [[75001711, 75003277], [75003600, 75003687], [75005679, 75005934], [75006445, 75006586], [75006767, 75007089]] [[75003157, 75003277], [75003600, 75003687], [75005679, 75005934], [75006445, 75006586], [75006767, 75006947]]
Promoter
Chrom Start End Description
chr10 75006966 75006977 CAGE_peak_2_at_DNAJC9_5end
chr10 75006999 75007077 CAGE_peak_1_at_DNAJC9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I072689 72689219 72693994 2.49 [{'connected_gene': 'MCU', 'score': 552.75}, {'connected_gene': 'DNAJB12', 'score': 33.96}, {'connected_gene': 'ENSG00000272791', 'score': 21.1}, {'connected_gene': 'ECD', 'score': 20.88}, {'connected_gene': 'ENSG00000268584', 'score': 20.73}, {'connected_gene': 'DNAJC9', 'score': 11.67}, {'connected_gene': 'MICU1', 'score': 11.62}, {'connected_gene': 'ENSG00000227540', 'score': 11.34}, {'connected_gene': 'ENSG00000272630', 'score': 10.92}, {'connected_gene': 'CHST3', 'score': 10.1}, {'connected_gene': 'EIF4A2P2', 'score': 9.95}, {'connected_gene': 'ENSG00000201881', 'score': 0.28}, {'connected_gene': 'GC10M072655', 'score': 0.28}]
chr10 GH10I072258 72258318 72265284 1.82 [{'connected_gene': 'DNAJB12', 'score': 38.3}, {'connected_gene': 'ECD', 'score': 23.28}, {'connected_gene': 'RPL17P50', 'score': 20.91}, {'connected_gene': 'PSAP', 'score': 5.74}, {'connected_gene': 'ASCC1', 'score': 5.58}, {'connected_gene': 'NUDT13', 'score': 5.0}, {'connected_gene': 'DNAJC9', 'score': 4.04}, {'connected_gene': 'DDIT4', 'score': 3.61}, {'connected_gene': 'VSIR', 'score': 1.75}, {'connected_gene': 'GC10M072248', 'score': 0.39}]
chr10 GH10I072363 72363309 72365784 1.4 [{'connected_gene': 'DNAJB12', 'score': 30.55}, {'connected_gene': 'ECD', 'score': 29.4}, {'connected_gene': 'RPL17P50', 'score': 12.76}, {'connected_gene': 'DNAJC9', 'score': 4.63}, {'connected_gene': 'CFAP70', 'score': 4.62}, {'connected_gene': 'GC10P072369', 'score': 0.77}, {'connected_gene': 'GC10M072358', 'score': 0.44}]
chr10 GH10I072314 72314357 72326092 1.9 [{'connected_gene': 'DNAJB12', 'score': 66.38}, {'connected_gene': 'ECD', 'score': 57.55}, {'connected_gene': 'DDIT4', 'score': 21.83}, {'connected_gene': 'RPL17P50', 'score': 21.75}, {'connected_gene': 'ENSG00000227540', 'score': 20.62}, {'connected_gene': 'PSAP', 'score': 12.77}, {'connected_gene': 'FAM149B1', 'score': 12.54}, {'connected_gene': 'DNAJC9', 'score': 11.67}, {'connected_gene': 'ENSG00000272630', 'score': 10.9}, {'connected_gene': 'NUDT13', 'score': 4.66}, {'connected_gene': 'MICU1', 'score': 1.26}, {'connected_gene': 'DDIT4-AS1', 'score': 0.26}]
chr10 GH10I072326 72326602 72337892 1.84 [{'connected_gene': 'DNAJB12', 'score': 39.58}, {'connected_gene': 'ECD', 'score': 22.9}, {'connected_gene': 'ENSG00000227540', 'score': 21.6}, {'connected_gene': 'DNAJC9', 'score': 14.05}, {'connected_gene': 'RPL17P50', 'score': 12.75}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'DDIT4', 'score': 4.84}, {'connected_gene': 'PSAP', 'score': 4.42}, {'connected_gene': 'P4HA1', 'score': 3.83}, {'connected_gene': 'SPOCK2', 'score': 2.52}, {'connected_gene': 'DDIT4-AS1', 'score': 0.22}]
chr10 GH10I072352 72352747 72355732 2.34 [{'connected_gene': 'DNAJB12', 'score': 607.96}, {'connected_gene': 'ECD', 'score': 52.56}, {'connected_gene': 'EIF4A2P2', 'score': 23.4}, {'connected_gene': 'ENSG00000227540', 'score': 21.6}, {'connected_gene': 'DNAJC9', 'score': 13.34}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'CHST3', 'score': 10.13}, {'connected_gene': 'RPL17P50', 'score': 9.69}, {'connected_gene': 'P4HA1', 'score': 3.91}, {'connected_gene': 'DDIT4-AS1', 'score': 0.18}]
chr10 GH10I072270 72270498 72279035 2.36 [{'connected_gene': 'DDIT4', 'score': 550.77}, {'connected_gene': 'DDIT4-AS1', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 80.39}, {'connected_gene': 'ECD', 'score': 76.47}, {'connected_gene': 'ENSG00000227540', 'score': 36.27}, {'connected_gene': 'FAM149B1', 'score': 32.45}, {'connected_gene': 'RPL17P50', 'score': 23.61}, {'connected_gene': 'DNAJC9', 'score': 21.96}, {'connected_gene': 'ASCC1', 'score': 16.06}, {'connected_gene': 'ENSG00000272630', 'score': 11.74}, {'connected_gene': 'ENSG00000200170', 'score': 11.45}, {'connected_gene': 'ANAPC16', 'score': 11.44}, {'connected_gene': 'ENSG00000272599', 'score': 11.19}, {'connected_gene': 'CHST3', 'score': 10.14}, {'connected_gene': 'EIF4A2P2', 'score': 9.95}, {'connected_gene': 'NUDT13', 'score': 4.71}]
chr10 GH10I072344 72344241 72345152 0.79 [{'connected_gene': 'DDIT4', 'score': 11.84}, {'connected_gene': 'RNU6-805P', 'score': 10.39}, {'connected_gene': 'DNAJC9', 'score': 4.32}, {'connected_gene': 'DNAJB12', 'score': 0.39}, {'connected_gene': 'DDIT4-AS1', 'score': 0.2}]
chr10 GH10I072265 72265401 72266352 1.21 [{'connected_gene': 'ASCC1', 'score': 6.1}, {'connected_gene': 'DNAJC9', 'score': 4.04}, {'connected_gene': 'DDIT4', 'score': 0.44}, {'connected_gene': 'GC10M072248', 'score': 0.37}]
chr10 GH10I073243 73243499 73249007 2.29 [{'connected_gene': 'DNAJC9-AS1', 'score': 550.77}, {'connected_gene': 'DNAJC9', 'score': 550.77}, {'connected_gene': 'SEC24C', 'score': 43.98}, {'connected_gene': 'NDST2', 'score': 40.51}, {'connected_gene': 'ZSWIM8', 'score': 37.83}, {'connected_gene': 'NUDT13', 'score': 33.9}, {'connected_gene': 'DNAJB12', 'score': 31.99}, {'connected_gene': 'GLUD1P3', 'score': 31.46}, {'connected_gene': 'ZSWIM8-AS1', 'score': 30.56}, {'connected_gene': 'ENSG00000272140', 'score': 26.02}, {'connected_gene': 'AP3M1', 'score': 24.76}, {'connected_gene': 'DUSP8P5', 'score': 22.39}, {'connected_gene': 'BMS1P4', 'score': 21.58}, {'connected_gene': 'CFAP70', 'score': 20.38}, {'connected_gene': 'RPL17P50', 'score': 12.79}, {'connected_gene': 'ECD', 'score': 11.32}, {'connected_gene': 'ENSG00000233144', 'score': 9.9}, {'connected_gene': 'ENSG00000242288', 'score': 9.68}, {'connected_gene': 'MRPS16', 'score': 0.44}, {'connected_gene': 'PIR34636', 'score': 0.44}, {'connected_gene': 'FAM149B1', 'score': 0.18}]
chr10 GH10I073964 73964099 73970299 2.07 [{'connected_gene': 'GLUD1P3', 'score': 16.84}, {'connected_gene': 'RPL17P50', 'score': 15.5}, {'connected_gene': 'DUSP8P5', 'score': 15.11}, {'connected_gene': 'DNAJC9', 'score': 14.97}, {'connected_gene': 'ADK', 'score': 13.78}, {'connected_gene': 'AP3M1', 'score': 13.12}, {'connected_gene': 'VCL', 'score': 12.91}, {'connected_gene': 'ENSG00000272140', 'score': 12.56}, {'connected_gene': 'PLAU', 'score': 12.33}, {'connected_gene': 'ECD', 'score': 11.75}, {'connected_gene': 'C10orf55', 'score': 11.73}, {'connected_gene': 'KAT6B', 'score': 11.45}, {'connected_gene': 'SEC24C', 'score': 11.11}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'CAMK2G', 'score': 11.04}, {'connected_gene': 'ENSG00000229990', 'score': 10.51}, {'connected_gene': 'ENSG00000242288', 'score': 9.95}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ANXA7', 'score': 5.21}, {'connected_gene': 'LOC105378360', 'score': 4.62}, {'connected_gene': 'CFAP70', 'score': 4.48}, {'connected_gene': 'GC10M073941', 'score': 0.31}]
chr10 GH10I073109 73109863 73112251 2.09 [{'connected_gene': 'NUDT13', 'score': 585.27}, {'connected_gene': 'ZSWIM8', 'score': 29.77}, {'connected_gene': 'NDST2', 'score': 27.51}, {'connected_gene': 'DNAJB12', 'score': 27.05}, {'connected_gene': 'SEC24C', 'score': 27.01}, {'connected_gene': 'ZSWIM8-AS1', 'score': 26.23}, {'connected_gene': 'CFAP70', 'score': 15.48}, {'connected_gene': 'DNAJC9', 'score': 15.06}, {'connected_gene': 'ECD', 'score': 15.0}, {'connected_gene': 'ENSG00000272140', 'score': 13.41}, {'connected_gene': 'VCL', 'score': 11.88}, {'connected_gene': 'GLUD1P3', 'score': 11.78}, {'connected_gene': 'AGAP5', 'score': 11.3}, {'connected_gene': 'DUSP8P5', 'score': 11.22}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'PLAU', 'score': 10.33}, {'connected_gene': 'ENSG00000268584', 'score': 9.78}, {'connected_gene': 'RPL26P6', 'score': 9.72}, {'connected_gene': 'ENSG00000242288', 'score': 9.69}, {'connected_gene': 'GC10M073125', 'score': 0.39}]
chr10 GH10I073183 73183484 73184642 0.56 [{'connected_gene': 'NUDT13', 'score': 39.82}, {'connected_gene': 'ENSG00000237768', 'score': 10.33}, {'connected_gene': 'ENSG00000199201', 'score': 0.44}, {'connected_gene': 'GC10M073193', 'score': 0.44}, {'connected_gene': 'ECD', 'score': 0.37}, {'connected_gene': 'FAM149B1', 'score': 0.37}, {'connected_gene': 'LOC105378358', 'score': 0.23}, {'connected_gene': 'DNAJC9', 'score': 0.21}]
chr10 GH10I074145 74145234 74145601 0.8 [{'connected_gene': 'KAT6B', 'score': 27.47}, {'connected_gene': 'EIF4A2P2', 'score': 19.35}, {'connected_gene': 'ENSG00000224195', 'score': 11.07}, {'connected_gene': 'GLUD1P3', 'score': 10.96}, {'connected_gene': 'DUSP8P5', 'score': 10.91}, {'connected_gene': 'CAMK2G', 'score': 10.41}, {'connected_gene': 'AGAP5', 'score': 10.12}, {'connected_gene': 'ADK', 'score': 10.11}, {'connected_gene': 'DNAJC9', 'score': 10.0}, {'connected_gene': 'AP3M1', 'score': 0.44}, {'connected_gene': 'GC10P074123', 'score': 0.34}]
chr10 GH10I072845 72845815 72846991 0.79 [{'connected_gene': 'DNAJC9', 'score': 14.99}, {'connected_gene': 'MCU', 'score': 11.31}, {'connected_gene': 'OIT3', 'score': 10.99}, {'connected_gene': 'RNU6-805P', 'score': 10.51}, {'connected_gene': 'ENSG00000226163', 'score': 9.92}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ZSWIM8', 'score': 4.41}, {'connected_gene': 'ENSG00000272627', 'score': 0.18}]
chr10 GH10I074028 74028866 74030052 1 [{'connected_gene': 'DNAJC9', 'score': 14.97}, {'connected_gene': 'VCL', 'score': 12.6}, {'connected_gene': 'C10orf55', 'score': 10.85}, {'connected_gene': 'CAMK2G', 'score': 10.48}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ENSG00000225761', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.31}]
chr10 GH10I074023 74023272 74024536 0.84 [{'connected_gene': 'DNAJC9', 'score': 18.43}, {'connected_gene': 'ENSG00000272630', 'score': 14.21}, {'connected_gene': 'VCL', 'score': 12.27}, {'connected_gene': 'ENSG00000227540', 'score': 12.21}, {'connected_gene': 'FAM149B1', 'score': 12.0}, {'connected_gene': 'C10orf55', 'score': 10.86}, {'connected_gene': 'KAT6B', 'score': 10.71}, {'connected_gene': 'CAMK2G', 'score': 10.49}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'ADK', 'score': 8.49}, {'connected_gene': 'ENSG00000225761', 'score': 0.37}, {'connected_gene': 'GC10P074056', 'score': 0.29}]
chr10 GH10I072350 72350766 72352167 0.46 [{'connected_gene': 'DNAJC9', 'score': 4.63}, {'connected_gene': 'DNAJB12', 'score': 0.77}, {'connected_gene': 'DDIT4-AS1', 'score': 0.18}]
chr10 GH10I072348 72348346 72350362 0.49 [{'connected_gene': 'DNAJC9', 'score': 4.63}, {'connected_gene': 'DNAJB12', 'score': 0.44}, {'connected_gene': 'DDIT4-AS1', 'score': 0.19}]
chr10 GH10I074206 74206280 74209907 0.94 [{'connected_gene': 'ADK', 'score': 27.52}, {'connected_gene': 'AP3M1', 'score': 11.87}, {'connected_gene': 'DNAJC9', 'score': 11.56}, {'connected_gene': 'ZSWIM8-AS1', 'score': 11.29}, {'connected_gene': 'C10orf55', 'score': 9.62}, {'connected_gene': 'ENSG00000272140', 'score': 4.22}, {'connected_gene': 'GC10P074285', 'score': 0.18}]
chr10 GH10I074033 74033200 74035600 1.15 [{'connected_gene': 'ADK', 'score': 33.25}, {'connected_gene': 'DNAJC9', 'score': 10.99}, {'connected_gene': 'VCL', 'score': 4.75}, {'connected_gene': 'GC10P074056', 'score': 0.34}, {'connected_gene': 'ENSG00000225761', 'score': 0.31}]
chr10 GH10I072695 72694583 72694732 0.6 [{'connected_gene': 'MICU1', 'score': 11.62}, {'connected_gene': 'DNAJC9', 'score': 10.01}, {'connected_gene': 'MCU', 'score': 0.77}, {'connected_gene': 'GC10P072699', 'score': 0.77}]
chr10 GH10I073250 73250585 73254082 2.28 [{'connected_gene': 'ENSG00000227540', 'score': 550.77}, {'connected_gene': 'MRPS16', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 49.77}, {'connected_gene': 'NDST2', 'score': 46.18}, {'connected_gene': 'ZSWIM8', 'score': 43.85}, {'connected_gene': 'SEC24C', 'score': 43.78}, {'connected_gene': 'AP3M1', 'score': 43.14}, {'connected_gene': 'ECD', 'score': 35.15}, {'connected_gene': 'NUDT13', 'score': 33.89}, {'connected_gene': 'ENSG00000272140', 'score': 33.07}, {'connected_gene': 'GLUD1P3', 'score': 32.49}, {'connected_gene': 'DUSP8P5', 'score': 30.82}, {'connected_gene': 'BMS1P4', 'score': 29.15}, {'connected_gene': 'ZSWIM8-AS1', 'score': 28.03}, {'connected_gene': 'ENSG00000242288', 'score': 21.85}, {'connected_gene': 'CFAP70', 'score': 20.27}, {'connected_gene': 'AGAP5', 'score': 11.31}, {'connected_gene': 'ENSG00000268584', 'score': 9.8}, {'connected_gene': 'DNAJC9-AS1', 'score': 0.77}, {'connected_gene': 'DNAJC9', 'score': 0.77}]
chr10 GH10I073229 73229801 73230200 0.31 [{'connected_gene': 'ENSG00000227540', 'score': 11.92}, {'connected_gene': 'MRPS16', 'score': 11.13}, {'connected_gene': 'NUDT13', 'score': 10.13}, {'connected_gene': 'RNU6-883P', 'score': 9.29}, {'connected_gene': 'USP54', 'score': 9.28}, {'connected_gene': 'LOC105378358', 'score': 0.77}, {'connected_gene': 'DNAJC9', 'score': 0.37}, {'connected_gene': 'EIF4A2P2', 'score': 0.29}, {'connected_gene': 'FAM149B1', 'score': 0.21}]
chr10 GH10I072241 72241402 72258199 2 [{'connected_gene': 'GC10M072248', 'score': 550.77}, {'connected_gene': 'ECD', 'score': 93.21}, {'connected_gene': 'DNAJB12', 'score': 81.67}, {'connected_gene': 'RPL17P50', 'score': 28.14}, {'connected_gene': 'ENSG00000272599', 'score': 21.14}, {'connected_gene': 'ASCC1', 'score': 17.73}, {'connected_gene': 'DDIT4', 'score': 15.03}, {'connected_gene': 'CHST3', 'score': 12.95}, {'connected_gene': 'DNAJC9', 'score': 12.46}, {'connected_gene': 'ENSG00000200170', 'score': 12.29}, {'connected_gene': 'ANAPC16', 'score': 12.28}, {'connected_gene': 'ENSG00000272630', 'score': 11.15}, {'connected_gene': 'RPL15P14', 'score': 7.09}, {'connected_gene': 'NUDT13', 'score': 5.65}, {'connected_gene': 'SLC29A3', 'score': 5.61}, {'connected_gene': 'PSAP', 'score': 5.28}, {'connected_gene': 'MICU1', 'score': 4.1}, {'connected_gene': 'VSIR', 'score': 1.81}]

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