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
ENST00000476605 [[74127097, 74128113], [74135540, 74135630], [74139221, 74139341], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74310956]] [[74139309, 74139341], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74310956]]
ENST00000401998 [[74127097, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235049], [74235619, 74235621], [74236927, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385837]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235049], [74235619, 74235621], [74236927, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
ENST00000361114 [[74127097, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385863]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
ENST00000398761 [[74127097, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235049], [74235619, 74235621], [74236927, 74237014], [74267912, 74268027], [74288510, 74288516], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385899]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235049], [74235619, 74235621], [74236927, 74237014], [74267912, 74268027], [74288510, 74288516], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
ENST00000418483 [[74127671, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283711]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283617]]
ENST00000398763 [[74127868, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74237250, 74237361], [74267912, 74268027], [74283559, 74283694]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74237250, 74237308]]
ENST00000489666 [[74183005, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283733]] [[74183005, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283617]]
ENST00000603011 [[74236927, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326517], [74385767, 74385836]] [[74236927, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326449]]
ENST00000604238 [[74292819, 74292920], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385869]] [[74292819, 74292920], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
ENST00000605385 [[74227506, 74227703], [74232780, 74233062]] None
ENST00000603173 [[74235024, 74235055], [74236931, 74237014], [74267912, 74268027], [74291217, 74291448], [74292752, 74292856]] None
ENST00000604529 [[74236931, 74237014], [74267912, 74268383]] None
ENST00000604025 [[74322468, 74322821], [74326390, 74326552], [74385767, 74385832]] None
NM_001195519 [[74127083, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283744]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74283559, 74283617]]
NM_006077 [[74127083, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74269155, 74269161], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385949]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74269155, 74269161], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
NM_001195518 [[74127083, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821], [74326390, 74326552], [74385767, 74385949]] [[74127952, 74128113], [74135540, 74135630], [74167686, 74167795], [74182991, 74183129], [74234857, 74235055], [74236931, 74237014], [74267912, 74268027], [74293503, 74293547], [74310936, 74311099], [74322652, 74322821]]
Promoter
Chrom Start End Description
chr10 74283726 74283749 CAGE_peak_3_at_MICU1_5end
chr10 74385811 74385859 CAGE_peak_1_at_MICU1_5end
chr10 74385876 74385891 CAGE_peak_2_at_MICU1_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 GH10I072611 72611802 72612600 0.83 [{'connected_gene': 'MCU', 'score': 10.84}, {'connected_gene': 'MICU1', 'score': 0.39}, {'connected_gene': 'RN7SL840P', 'score': 0.31}]
chr10 GH10I071844 71844912 71852977 2.55 [{'connected_gene': 'PSAP', 'score': 562.41}, {'connected_gene': 'VSIR', 'score': 12.85}, {'connected_gene': 'C10orf105', 'score': 10.32}, {'connected_gene': 'ANAPC16', 'score': 4.56}, {'connected_gene': 'MICU1', 'score': 4.46}, {'connected_gene': 'DDIT4', 'score': 1.3}, {'connected_gene': 'RNU7-38P', 'score': 0.77}]
chr10 GH10I072567 72567023 72568200 1.07 [{'connected_gene': 'DNAJB12', 'score': 12.43}, {'connected_gene': 'MCU', 'score': 10.79}, {'connected_gene': 'DDIT4', 'score': 2.61}, {'connected_gene': 'ENSG00000230609', 'score': 0.44}, {'connected_gene': 'RN7SL840P', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.22}]
chr10 GH10I072562 72562602 72565183 1.12 [{'connected_gene': 'DNAJB12', 'score': 11.88}, {'connected_gene': 'MCU', 'score': 10.55}, {'connected_gene': 'CFAP70', 'score': 7.34}, {'connected_gene': 'DDIT4', 'score': 3.47}, {'connected_gene': 'ENSG00000230609', 'score': 0.77}, {'connected_gene': 'RN7SL840P', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.21}]
chr10 GH10I072449 72449465 72450843 0.54 [{'connected_gene': 'DNAJB12', 'score': 12.3}, {'connected_gene': 'ENSG00000226163', 'score': 10.62}, {'connected_gene': 'MCU', 'score': 9.98}, {'connected_gene': 'CFAP70', 'score': 5.51}, {'connected_gene': 'ENSG00000282915', 'score': 0.34}, {'connected_gene': 'RNU6-805P', 'score': 0.22}, {'connected_gene': 'MICU1', 'score': 0.1}]
chr10 GH10I072593 72593601 72594400 0.66 [{'connected_gene': 'DNAJB12', 'score': 11.55}, {'connected_gene': 'OIT3', 'score': 9.99}, {'connected_gene': 'ENSG00000226163', 'score': 9.91}, {'connected_gene': 'RN7SL840P', 'score': 0.39}, {'connected_gene': 'MICU1', 'score': 0.29}]
chr10 GH10I072557 72557156 72558438 0.2 [{'connected_gene': 'DNAJB12', 'score': 12.39}, {'connected_gene': 'CFAP70', 'score': 6.08}, {'connected_gene': 'ENSG00000230609', 'score': 0.77}, {'connected_gene': 'ENSG00000226163', 'score': 0.22}, {'connected_gene': 'MICU1', 'score': 0.2}]
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 GH10I072425 72425323 72425472 0.2 [{'connected_gene': 'DNAJB12', 'score': 13.66}, {'connected_gene': 'RNU6-805P', 'score': 0.29}, {'connected_gene': 'ENSG00000282915', 'score': 0.25}, {'connected_gene': 'MICU1', 'score': 0.08}]
chr10 GH10I072421 72421810 72422412 0.38 [{'connected_gene': 'DNAJB12', 'score': 7.97}, {'connected_gene': 'RNU6-805P', 'score': 0.29}, {'connected_gene': 'ENSG00000282915', 'score': 0.23}, {'connected_gene': 'MICU1', 'score': 0.08}]
chr10 GH10I072511 72511001 72512200 0.61 [{'connected_gene': 'DNAJB12', 'score': 14.57}, {'connected_gene': 'MICU1', 'score': 12.56}, {'connected_gene': 'MCU', 'score': 10.7}, {'connected_gene': 'OIT3', 'score': 9.73}, {'connected_gene': 'CFAP70', 'score': 6.53}, {'connected_gene': 'DDIT4', 'score': 1.81}, {'connected_gene': 'ENSG00000226163', 'score': 0.44}, {'connected_gene': 'ENSG00000230609', 'score': 0.25}]
chr10 GH10I072702 72702801 72703800 0.82 [{'connected_gene': 'DNAJB12', 'score': 15.27}, {'connected_gene': 'MICU1', 'score': 10.77}, {'connected_gene': 'ENSG00000237768', 'score': 10.52}, {'connected_gene': 'ENSG00000226163', 'score': 10.07}, {'connected_gene': 'OIT3', 'score': 9.54}, {'connected_gene': 'GC10P072699', 'score': 0.77}, {'connected_gene': 'MCU', 'score': 0.39}, {'connected_gene': 'GC10P072715', 'score': 0.39}]
chr10 GH10I072672 72672595 72674059 0.38 [{'connected_gene': 'DNAJB12', 'score': 28.12}, {'connected_gene': 'MICU1', 'score': 11.12}, {'connected_gene': 'RNU6-805P', 'score': 10.42}, {'connected_gene': 'ECD', 'score': 9.99}, {'connected_gene': 'ENSG00000226163', 'score': 9.78}, {'connected_gene': 'MCU', 'score': 0.37}, {'connected_gene': 'ENSG00000201881', 'score': 0.37}, {'connected_gene': 'GC10M072655', 'score': 0.37}]
chr10 GH10I072375 72375303 72375452 0.31 [{'connected_gene': 'OIT3', 'score': 10.62}, {'connected_gene': 'ENSG00000226163', 'score': 10.27}, {'connected_gene': 'GC10P072369', 'score': 0.44}, {'connected_gene': 'GC10P072392', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.07}]
chr10 GH10I072552 72552521 72553680 0.74 [{'connected_gene': 'CFAP70', 'score': 6.09}, {'connected_gene': 'ENSG00000230609', 'score': 0.44}, {'connected_gene': 'ENSG00000226163', 'score': 0.23}, {'connected_gene': 'MICU1', 'score': 0.19}]
chr10 GH10I072456 72456001 72456800 0.56 [{'connected_gene': 'RNU6-805P', 'score': 11.19}, {'connected_gene': 'DNAJB12', 'score': 11.13}, {'connected_gene': 'ENSG00000226163', 'score': 10.53}, {'connected_gene': 'ENSG00000282915', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.1}]
chr10 GH10I072414 72414846 72415035 0.64 [{'connected_gene': 'RNU6-805P', 'score': 12.12}, {'connected_gene': 'ENSG00000226163', 'score': 10.57}, {'connected_gene': 'ENSG00000282915', 'score': 0.22}, {'connected_gene': 'MICU1', 'score': 0.08}]
chr10 GH10I072694 72694798 72695635 0.64 [{'connected_gene': 'MICU1', 'score': 11.62}, {'connected_gene': 'MCU', 'score': 0.77}, {'connected_gene': 'GC10P072699', 'score': 0.77}]
chr10 GH10I072522 72522489 72526485 1.35 [{'connected_gene': 'MICU1', 'score': 550.15}, {'connected_gene': 'DNAJB12', 'score': 13.42}, {'connected_gene': 'ENSG00000226163', 'score': 11.11}, {'connected_gene': 'MCU', 'score': 11.09}, {'connected_gene': 'CFAP70', 'score': 6.1}, {'connected_gene': 'ENSG00000230609', 'score': 0.28}]
chr10 GH10I072624 72624332 72626960 2.07 [{'connected_gene': 'MICU1', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 83.74}, {'connected_gene': 'ECD', 'score': 58.66}, {'connected_gene': 'RPL17P50', 'score': 21.55}, {'connected_gene': 'CFAP70', 'score': 7.34}, {'connected_gene': 'RN7SL840P', 'score': 0.26}]
chr10 GH10I072675 72675851 72677958 1.37 [{'connected_gene': 'MICU1', 'score': 11.1}, {'connected_gene': 'DNAJB12', 'score': 10.82}, {'connected_gene': 'RNU6-805P', 'score': 10.42}, {'connected_gene': 'ENSG00000226163', 'score': 9.79}, {'connected_gene': 'MCU', 'score': 6.11}, {'connected_gene': 'ASCC1', 'score': 1.48}, {'connected_gene': 'ENSG00000201881', 'score': 0.34}, {'connected_gene': 'GC10M072655', 'score': 0.34}]
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 GH10I072679 72679050 72680893 0.69 [{'connected_gene': 'MICU1', 'score': 11.1}, {'connected_gene': 'RNU6-805P', 'score': 10.42}, {'connected_gene': 'ENSG00000226163', 'score': 9.79}, {'connected_gene': 'MCU', 'score': 0.39}, {'connected_gene': 'GC10M072655', 'score': 0.31}, {'connected_gene': 'ENSG00000201881', 'score': 0.31}]
chr10 GH10I072483 72483201 72484000 0.66 [{'connected_gene': 'SNX19P4', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 12.27}, {'connected_gene': 'RNU6-805P', 'score': 10.2}, {'connected_gene': 'ENSG00000226163', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.11}]
chr10 GH10I072484 72484401 72484800 0.31 [{'connected_gene': 'SNX19P4', 'score': 550.77}, {'connected_gene': 'RNU6-805P', 'score': 10.2}, {'connected_gene': 'ENSG00000226163', 'score': 0.37}, {'connected_gene': 'MICU1', 'score': 0.11}]
chr10 GH10I072502 72502402 72504040 1.04 [{'connected_gene': 'ENSG00000226163', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 12.05}, {'connected_gene': 'CFAP70', 'score': 5.85}, {'connected_gene': 'ENSG00000230609', 'score': 0.22}, {'connected_gene': 'MICU1', 'score': 0.13}]
chr10 GH10I072370 72370150 72370974 0.43 [{'connected_gene': 'GC10P072369', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 4.75}, {'connected_gene': 'GC10P072392', 'score': 0.34}, {'connected_gene': 'MICU1', 'score': 0.07}]
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}]
chr10 GH10I072509 72509201 72509401 0.49 [{'connected_gene': 'ENSG00000226163', 'score': 0.44}, {'connected_gene': 'ENSG00000230609', 'score': 0.23}, {'connected_gene': 'MICU1', 'score': 0.13}]
chr10 GH10I072538 72538401 72538600 0.31 [{'connected_gene': 'ENSG00000230609', 'score': 0.34}, {'connected_gene': 'ENSG00000226163', 'score': 0.28}, {'connected_gene': 'MICU1', 'score': 0.17}]
chr10 GH10I072367 72367110 72367673 0.4 [{'connected_gene': 'GC10P072369', 'score': 550.77}, {'connected_gene': 'GC10M072358', 'score': 0.44}, {'connected_gene': 'MICU1', 'score': 0.07}]

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