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
ENST00000373053 [[74451888, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] [[74451909, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
ENST00000603649 [[74451900, 74452059], [74474868, 74474984], [74475611, 74475660], [74496242, 74496329], [74594116, 74594178]] [[74451909, 74452059], [74474868, 74474984], [74475611, 74475621]]
ENST00000604372 [[74451900, 74452059], [74475611, 74475660], [74520308, 74520430], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631191]] [[74451909, 74452059], [74475611, 74475626]]
ENST00000604679 [[74451900, 74452059], [74468040, 74468114], [74474868, 74474984], [74475611, 74475660], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631303]] [[74451909, 74452059], [74468040, 74468114], [74474868, 74474950]]
ENST00000357157 [[74451900, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74621436, 74621534], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] [[74451909, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74621436, 74621534], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
ENST00000536019 [[74452376, 74452824], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647450]] [[74452821, 74452824], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
ENST00000605597 [[74452376, 74452824], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647450]] [[74452516, 74452783]]
ENST00000604152 [[74472061, 74472157], [74594116, 74594190], [74618934, 74619105], [74620180, 74620285], [74628460, 74628570]] [[74472116, 74472157], [74594116, 74594190], [74618934, 74619105], [74620180, 74620285], [74628460, 74628570]]
ENST00000483185 [[74619752, 74620285], [74628460, 74628564]] None
ENST00000603118 [[74628447, 74628621], [74631134, 74631338], [74644023, 74644189]] None
ENST00000605416 [[74628601, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647449]] None
NM_138357 [[74451888, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] [[74451909, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
NM_001270679 [[74451888, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74621436, 74621534], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] [[74451909, 74452059], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74621436, 74621534], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
NR_073062 [[74451888, 74452059], [74474868, 74474984], [74475611, 74475660], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] None
NM_001270680 [[74452376, 74452824], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74647452]] [[74452821, 74452824], [74594116, 74594186], [74618934, 74619105], [74620180, 74620285], [74628460, 74628621], [74631134, 74631338], [74644023, 74644140], [74645502, 74645580]]
Promoter
Chrom Start End Description
chr10 74451883 74451912 CAGE_peak_1_at_MCU_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 GH10I072735 72735379 72741400 0.96 [{'connected_gene': 'MCU', 'score': 11.86}, {'connected_gene': 'DNAJB12', 'score': 11.57}, {'connected_gene': 'RNU6-805P', 'score': 10.42}, {'connected_gene': 'ENSG00000226163', 'score': 9.57}, {'connected_gene': 'ENSG00000280166', 'score': 0.44}, {'connected_gene': 'ENSG00000279502', 'score': 0.37}]
chr10 GH10I072812 72812173 72813454 0.84 [{'connected_gene': 'MCU', 'score': 10.57}, {'connected_gene': 'OIT3', 'score': 10.18}, {'connected_gene': 'RNU6-805P', 'score': 9.94}, {'connected_gene': 'ENSG00000226163', 'score': 9.32}, {'connected_gene': 'ENSG00000272627', 'score': 0.25}]
chr10 GH10I072801 72801801 72803764 0.98 [{'connected_gene': 'MCU', 'score': 10.79}, {'connected_gene': 'ENSG00000226163', 'score': 9.38}, {'connected_gene': 'CFAP70', 'score': 9.18}, {'connected_gene': 'ENSG00000272627', 'score': 0.28}, {'connected_gene': 'OIT3', 'score': 0.16}]
chr10 GH10I072741 72741563 72741712 0.2 [{'connected_gene': 'MCU', 'score': 11.86}, {'connected_gene': 'RNU6-805P', 'score': 10.42}, {'connected_gene': 'ENSG00000279502', 'score': 0.39}, {'connected_gene': 'ENSG00000280166', 'score': 0.39}]
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 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 GH10I072814 72814173 72815141 0.31 [{'connected_gene': 'DNAJB12', 'score': 11.87}, {'connected_gene': 'MCU', 'score': 10.79}, {'connected_gene': 'OIT3', 'score': 10.19}, {'connected_gene': 'ENSG00000226163', 'score': 9.23}, {'connected_gene': 'ENSG00000272627', 'score': 0.25}]
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 GH10I072688 72688997 72689091 0.2 [{'connected_gene': 'DNAJB12', 'score': 12.85}, {'connected_gene': 'ENSG00000226163', 'score': 9.48}, {'connected_gene': 'MCU', 'score': 0.77}, {'connected_gene': 'GC10M072655', 'score': 0.29}, {'connected_gene': 'ENSG00000201881', 'score': 0.29}]
chr10 GH10I072665 72665658 72666950 0.52 [{'connected_gene': 'DNAJB12', 'score': 11.62}, {'connected_gene': 'ENSG00000226163', 'score': 9.75}, {'connected_gene': 'GC10M072655', 'score': 0.39}, {'connected_gene': 'ENSG00000201881', 'score': 0.39}, {'connected_gene': 'MCU', 'score': 0.31}]
chr10 GH10I072661 72661185 72662109 0.2 [{'connected_gene': 'DNAJB12', 'score': 11.94}, {'connected_gene': 'ENSG00000226163', 'score': 10.28}, {'connected_gene': 'GC10M072655', 'score': 0.44}, {'connected_gene': 'ENSG00000201881', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.29}]
chr10 GH10I072753 72753583 72754870 0.9 [{'connected_gene': 'DNAJB12', 'score': 12.71}, {'connected_gene': 'ENSG00000279502', 'score': 0.77}, {'connected_gene': 'ENSG00000280166', 'score': 0.34}, {'connected_gene': 'MCU', 'score': 0.21}]
chr10 GH10I072885 72885063 72888592 1.06 [{'connected_gene': 'DNAJB12', 'score': 17.73}, {'connected_gene': 'GLUD1P3', 'score': 16.92}, {'connected_gene': 'DUSP8P5', 'score': 15.71}, {'connected_gene': 'ENSG00000272140', 'score': 15.02}, {'connected_gene': 'RPL17P50', 'score': 13.71}, {'connected_gene': 'ECD', 'score': 12.82}, {'connected_gene': 'AGAP5', 'score': 12.55}, {'connected_gene': 'ENSG00000224195', 'score': 12.07}, {'connected_gene': 'ENSG00000242288', 'score': 11.97}, {'connected_gene': 'BMS1P4', 'score': 11.53}, {'connected_gene': 'SEC24C', 'score': 11.24}, {'connected_gene': 'ANAPC16', 'score': 5.72}, {'connected_gene': 'OIT3', 'score': 0.44}, {'connected_gene': 'ENSG00000272627', 'score': 0.13}, {'connected_gene': 'MCU', 'score': 0.08}]
chr10 GH10I072839 72839244 72840758 0.69 [{'connected_gene': 'DNAJB12', 'score': 11.86}, {'connected_gene': 'OIT3', 'score': 0.23}, {'connected_gene': 'ENSG00000272627', 'score': 0.19}, {'connected_gene': 'MCU', 'score': 0.11}]
chr10 GH10I072800 72800400 72800801 1.15 [{'connected_gene': 'DNAJB12', 'score': 12.42}, {'connected_gene': 'ENSG00000272627', 'score': 0.29}, {'connected_gene': 'OIT3', 'score': 0.16}, {'connected_gene': 'MCU', 'score': 0.14}]
chr10 GH10I072782 72782137 72785714 1.09 [{'connected_gene': 'DNAJB12', 'score': 12.41}, {'connected_gene': 'OIT3', 'score': 9.75}, {'connected_gene': 'ENSG00000226163', 'score': 9.71}, {'connected_gene': 'ENSG00000272627', 'score': 0.37}, {'connected_gene': 'MCU', 'score': 0.16}]
chr10 GH10I072802 72800001 72800200 0.31 [{'connected_gene': 'DNAJB12', 'score': 11.61}, {'connected_gene': 'ENSG00000272627', 'score': 0.29}, {'connected_gene': 'OIT3', 'score': 0.16}, {'connected_gene': 'MCU', 'score': 0.14}]
chr10 GH10I072684 72684086 72688620 1.09 [{'connected_gene': 'DNAJB12', 'score': 11.63}, {'connected_gene': 'ENSG00000226163', 'score': 9.48}, {'connected_gene': 'CFAP70', 'score': 3.87}, {'connected_gene': 'MCU', 'score': 0.44}, {'connected_gene': 'GC10M072655', 'score': 0.29}, {'connected_gene': 'ENSG00000201881', 'score': 0.29}]
chr10 GH10I072712 72712002 72713536 0.82 [{'connected_gene': 'DNAJB12', 'score': 13.96}, {'connected_gene': 'CFAP70', 'score': 6.12}, {'connected_gene': 'NUDT13', 'score': 3.87}, {'connected_gene': 'GC10P072715', 'score': 0.77}, {'connected_gene': 'GC10P072699', 'score': 0.39}, {'connected_gene': 'MCU', 'score': 0.34}]
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 GH10I072708 72708217 72710200 0.8 [{'connected_gene': 'NUDT13', 'score': 3.89}, {'connected_gene': 'GC10P072715', 'score': 0.44}, {'connected_gene': 'GC10P072699', 'score': 0.39}, {'connected_gene': 'MCU', 'score': 0.37}]
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 GH10I072847 72847927 72848069 0.46 [{'connected_gene': 'OIT3', 'score': 10.99}, {'connected_gene': 'RNU6-805P', 'score': 10.51}, {'connected_gene': 'ENSG00000226163', 'score': 9.92}, {'connected_gene': 'ENSG00000272627', 'score': 0.18}, {'connected_gene': 'MCU', 'score': 0.1}]
chr10 GH10I072834 72834343 72834492 0.59 [{'connected_gene': 'RNU6-805P', 'score': 10.48}, {'connected_gene': 'OIT3', 'score': 10.13}, {'connected_gene': 'ENSG00000272627', 'score': 0.2}, {'connected_gene': 'MCU', 'score': 0.11}]
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 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 GH10I072719 72719823 72720559 0.46 [{'connected_gene': 'MIR4676', 'score': 550.77}, {'connected_gene': 'NUDT13', 'score': 3.87}, {'connected_gene': 'GC10P072715', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.31}]
chr10 GH10I072720 72720883 72721406 0.52 [{'connected_gene': 'MIR4676', 'score': 550.77}, {'connected_gene': 'ENSG00000226163', 'score': 9.64}, {'connected_gene': 'CFAP70', 'score': 6.11}, {'connected_gene': 'ENSG00000280166', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.31}]
chr10 GH10I072734 72734910 72735132 0.2 [{'connected_gene': 'ENSG00000226163', 'score': 9.57}, {'connected_gene': 'ENSG00000280166', 'score': 0.77}, {'connected_gene': 'ENSG00000279502', 'score': 0.34}, {'connected_gene': 'MCU', 'score': 0.26}]
chr10 GH10I072763 72763623 72765129 0.57 [{'connected_gene': 'ENSG00000226163', 'score': 9.63}, {'connected_gene': 'ENSG00000272627', 'score': 0.77}, {'connected_gene': 'ENSG00000279502', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.19}]
chr10 GH10I072727 72727913 72731276 0.69 [{'connected_gene': 'ENSG00000280166', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 12.44}, {'connected_gene': 'ENSG00000226163', 'score': 10.32}, {'connected_gene': 'OIT3', 'score': 9.89}, {'connected_gene': 'CFAP70', 'score': 6.1}, {'connected_gene': 'MIR4676', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.28}]
chr10 GH10I072756 72756017 72758334 0.59 [{'connected_gene': 'ENSG00000279502', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 13.14}, {'connected_gene': 'ENSG00000226163', 'score': 9.63}, {'connected_gene': 'CFAP70', 'score': 7.96}, {'connected_gene': 'ENSG00000272627', 'score': 0.44}, {'connected_gene': 'MCU', 'score': 0.2}]
chr10 GH10I072794 72794263 72794601 0.88 [{'connected_gene': 'ENSG00000272627', 'score': 0.31}, {'connected_gene': 'OIT3', 'score': 0.15}, {'connected_gene': 'MCU', 'score': 0.15}]
chr10 GH10I072791 72791911 72793841 0.58 [{'connected_gene': 'ENSG00000226163', 'score': 9.66}, {'connected_gene': 'OIT3', 'score': 9.61}, {'connected_gene': 'DNAJB12', 'score': 7.32}, {'connected_gene': 'ENSG00000272627', 'score': 0.31}, {'connected_gene': 'MCU', 'score': 0.15}]

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