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
ENST00000274867 [[39760141, 39760241], [39824022, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39872644]] [[39824078, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39869813]]
ENST00000398904 [[39760793, 39760919], [39824022, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39872644]] [[39824078, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39869813]]
ENST00000538976 [[39760793, 39760919], [39824022, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867855, 39867984], [39869077, 39869248], [39869588, 39872648]] [[39824078, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867855, 39867984], [39869077, 39869248], [39869588, 39869813]]
ENST00000491083 [[39841121, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846549]] None
ENST00000405961 [[39816341, 39816712], [39824022, 39824246], [39828703, 39828937]] [[39824078, 39824246], [39828703, 39828934]]
ENST00000475489 [[39824022, 39824246], [39828703, 39829251]] None
ENST00000494405 [[39824022, 39824246], [39828703, 39828793], [39828898, 39829104], [39832208, 39832283], [39832755, 39832850], [39835285, 39835297]] None
ENST00000496787 [[39855180, 39855368], [39856454, 39856539], [39859116, 39859137]] None
NM_001201427 [[39760158, 39760241], [39824022, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39872653]] [[39824078, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867852, 39867984], [39869077, 39869248], [39869588, 39869813]]
NM_015345 [[39760772, 39760919], [39824022, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867855, 39867984], [39869077, 39869248], [39869588, 39872653]] [[39824078, 39824246], [39828703, 39828793], [39832208, 39832283], [39832755, 39832850], [39835285, 39835619], [39836598, 39836709], [39838115, 39838219], [39839281, 39839348], [39841013, 39841131], [39843105, 39843244], [39845978, 39846037], [39846179, 39846364], [39846953, 39847253], [39851737, 39851845], [39855261, 39855368], [39856454, 39856539], [39859116, 39859223], [39859409, 39859498], [39864587, 39864756], [39864950, 39865058], [39866652, 39866713], [39867855, 39867984], [39869077, 39869248], [39869588, 39869813]]
Promoter
Chrom Start End Description
chr6 39760129 39760177 CAGE_peak_1_at_DAAM2_5end
chr6 39760747 39760766 CAGE_peak_2_at_DAAM2_5end
chr6 39760769 39760781 CAGE_peak_5_at_DAAM2_5end
chr6 39760783 39760796 CAGE_peak_6_at_DAAM2_5end
chr6 39760804 39760814 CAGE_peak_8_at_DAAM2_5end
chr6 39760817 39760833 CAGE_peak_4_at_DAAM2_5end
chr6 39841077 39841089 CAGE_peak_3_at_DAAM2_5end
chr6 39870297 39870302 CAGE_peak_7_at_DAAM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I039852 39852512 39854338 0.38 [{'connected_gene': 'KCNK17', 'score': 4.51}, {'connected_gene': 'ENSG00000281969', 'score': 0.29}, {'connected_gene': 'LOC100505635', 'score': 0.25}, {'connected_gene': 'DAAM2', 'score': 0.21}]
chr6 GH06I039220 39220579 39222925 1.06 [{'connected_gene': 'KCNK5', 'score': 5.12}, {'connected_gene': 'GLO1', 'score': 4.71}, {'connected_gene': 'DAAM2', 'score': 4.27}, {'connected_gene': 'PIR34969', 'score': 0.18}, {'connected_gene': 'GC06M039593', 'score': 0.09}]
chr6 GH06I039843 39843107 39844309 1.04 [{'connected_gene': 'MOCS1', 'score': 10.3}, {'connected_gene': 'KCNK17', 'score': 4.41}, {'connected_gene': 'DAAM2', 'score': 1.73}, {'connected_gene': 'ENSG00000281969', 'score': 0.34}, {'connected_gene': 'LOC100505635', 'score': 0.22}]
chr6 GH06I039862 39862782 39865908 0.64 [{'connected_gene': 'MOCS1', 'score': 15.65}, {'connected_gene': 'RPL23P6', 'score': 15.11}, {'connected_gene': 'LOC100505635', 'score': 0.28}, {'connected_gene': 'ENSG00000281969', 'score': 0.25}, {'connected_gene': 'DAAM2', 'score': 0.19}]
chr6 GH06I039981 39981303 39981340 0.81 [{'connected_gene': 'MOCS1', 'score': 9.56}, {'connected_gene': 'DAAM2', 'score': 1.2}, {'connected_gene': 'TUBBP9', 'score': 0.39}, {'connected_gene': 'RPL23P6', 'score': 0.34}]
chr6 GH06I039876 39876210 39878297 0.31 [{'connected_gene': 'MOCS1', 'score': 15.92}, {'connected_gene': 'LOC100505635', 'score': 12.1}, {'connected_gene': 'DAAM2', 'score': 10.46}, {'connected_gene': 'ENSG00000281969', 'score': 0.22}]
chr6 GH06I039846 39846932 39848900 0.4 [{'connected_gene': 'MOCS1', 'score': 5.12}, {'connected_gene': 'ENSG00000281969', 'score': 0.31}, {'connected_gene': 'LOC100505635', 'score': 0.23}, {'connected_gene': 'DAAM2', 'score': 0.22}]
chr6 GH06I039845 39845277 39846129 0.49 [{'connected_gene': 'MOCS1', 'score': 5.11}, {'connected_gene': 'ENSG00000281969', 'score': 0.31}, {'connected_gene': 'LOC100505635', 'score': 0.23}, {'connected_gene': 'DAAM2', 'score': 0.23}]
chr6 GH06I039859 39859770 39862573 0.38 [{'connected_gene': 'MOCS1', 'score': 14.81}, {'connected_gene': 'LOC100505635', 'score': 0.28}, {'connected_gene': 'ENSG00000281969', 'score': 0.26}, {'connected_gene': 'DAAM2', 'score': 0.2}]
chr6 GH06I039869 39869890 39874097 0.31 [{'connected_gene': 'MOCS1', 'score': 15.9}, {'connected_gene': 'LOC100505635', 'score': 12.07}, {'connected_gene': 'DAAM2', 'score': 10.65}, {'connected_gene': 'ENSG00000281969', 'score': 0.23}]
chr6 GH06I039854 39854919 39856576 0.4 [{'connected_gene': 'MOCS1', 'score': 4.85}, {'connected_gene': 'ENSG00000281969', 'score': 0.28}, {'connected_gene': 'LOC100505635', 'score': 0.26}, {'connected_gene': 'DAAM2', 'score': 0.21}]
chr6 GH06I039082 39082320 39084252 0.52 [{'connected_gene': 'GLP1R', 'score': 22.9}, {'connected_gene': 'SAYSD1', 'score': 22.52}, {'connected_gene': 'DAAM2', 'score': 4.8}, {'connected_gene': 'LOC105375046', 'score': 0.77}, {'connected_gene': 'PIR34726', 'score': 0.34}, {'connected_gene': 'GC06M039564', 'score': 0.34}]
chr6 GH06I039879 39879908 39889725 1.51 [{'connected_gene': 'DAAM2', 'score': 16.83}, {'connected_gene': 'MOCS1', 'score': 16.53}, {'connected_gene': 'LOC100505635', 'score': 5.73}, {'connected_gene': 'ENSG00000281969', 'score': 0.2}]
chr6 GH06I039776 39776517 39779113 0.49 [{'connected_gene': 'DAAM2', 'score': 0.39}, {'connected_gene': 'KIF6', 'score': 0.23}]
chr6 GH06I039791 39791395 39794413 1.89 [{'connected_gene': 'DAAM2', 'score': 555.59}, {'connected_gene': 'KIF6', 'score': 4.41}, {'connected_gene': 'ENSG00000281969', 'score': 0.31}]
chr6 GH06I039764 39764958 39767022 0.43 [{'connected_gene': 'DAAM2', 'score': 12.38}, {'connected_gene': 'KIF6', 'score': 0.26}]
chr6 GH06I039769 39769132 39769331 0.44 [{'connected_gene': 'DAAM2', 'score': 21.68}, {'connected_gene': 'KIF6', 'score': 3.99}]
chr6 GH06I039678 39678168 39679837 0.2 [{'connected_gene': 'DAAM2', 'score': 10.29}, {'connected_gene': 'GC06P042415', 'score': 0.29}, {'connected_gene': 'KIF6', 'score': 0.25}]
chr6 GH06I039753 39753186 39754194 0.43 [{'connected_gene': 'DAAM2', 'score': 11.1}, {'connected_gene': 'KIF6', 'score': 0.31}]
chr6 GH06I039790 39790514 39791175 0.31 [{'connected_gene': 'DAAM2', 'score': 550.77}, {'connected_gene': 'KIF6', 'score': 4.73}]
chr6 GH06I039687 39687089 39687242 0.42 [{'connected_gene': 'DAAM2', 'score': 9.69}, {'connected_gene': 'KIF6', 'score': 3.81}, {'connected_gene': 'GC06P042415', 'score': 0.28}]
chr6 GH06I039825 39825549 39826171 0.2 [{'connected_gene': 'DAAM2', 'score': 11.55}, {'connected_gene': 'ENSG00000281969', 'score': 0.44}, {'connected_gene': 'LOC100505635', 'score': 0.19}]
chr6 GH06I039832 39832001 39833399 0.31 [{'connected_gene': 'DAAM2', 'score': 10.95}, {'connected_gene': 'ENSG00000281969', 'score': 0.39}, {'connected_gene': 'LOC100505635', 'score': 0.2}]
chr6 GH06I039836 39834848 39835117 0.2 [{'connected_gene': 'DAAM2', 'score': 11.07}, {'connected_gene': 'ENSG00000281969', 'score': 0.37}, {'connected_gene': 'LOC100505635', 'score': 0.2}]
chr6 GH06I039835 39835601 39836979 0.6 [{'connected_gene': 'DAAM2', 'score': 11.1}, {'connected_gene': 'ENSG00000281969', 'score': 0.37}, {'connected_gene': 'LOC100505635', 'score': 0.21}]
chr6 GH06I039828 39828798 39831660 0.2 [{'connected_gene': 'DAAM2', 'score': 10.96}, {'connected_gene': 'ENSG00000281969', 'score': 0.39}, {'connected_gene': 'LOC100505635', 'score': 0.2}]
chr6 GH06I039826 39826843 39828618 0.31 [{'connected_gene': 'DAAM2', 'score': 11.53}, {'connected_gene': 'ENSG00000281969', 'score': 0.44}, {'connected_gene': 'LOC100505635', 'score': 0.19}]
chr6 GH06I039820 39820798 39825096 1.03 [{'connected_gene': 'DAAM2', 'score': 11.55}, {'connected_gene': 'ENSG00000281969', 'score': 0.77}, {'connected_gene': 'LOC100505635', 'score': 0.18}]
chr6 GH06I039837 39837672 39842422 0.46 [{'connected_gene': 'DAAM2', 'score': 11.08}, {'connected_gene': 'ENSG00000281969', 'score': 0.34}, {'connected_gene': 'LOC100505635', 'score': 0.21}]
chr6 GH06I039377 39377605 39377774 0.66 [{'connected_gene': 'DAAM2', 'score': 10.23}, {'connected_gene': 'LOC100124373', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.31}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039815 39815187 39816092 0.2 [{'connected_gene': 'DAAM2', 'score': 11.57}, {'connected_gene': 'ENSG00000281969', 'score': 0.77}]
chr6 GH06I039812 39812253 39814537 0.99 [{'connected_gene': 'DAAM2', 'score': 17.47}, {'connected_gene': 'ENSG00000281969', 'score': 0.44}]
chr6 GH06I039810 39810634 39811994 1.08 [{'connected_gene': 'DAAM2', 'score': 555.63}, {'connected_gene': 'ENSG00000281969', 'score': 0.44}]
chr6 GH06I039796 39796656 39797119 0.2 [{'connected_gene': 'DAAM2', 'score': 0.77}, {'connected_gene': 'ENSG00000281969', 'score': 0.34}]
chr6 GH06I039798 39798089 39799533 0.31 [{'connected_gene': 'DAAM2', 'score': 0.44}, {'connected_gene': 'ENSG00000281969', 'score': 0.37}]
chr6 GH06I039402 39402015 39403040 0.2 [{'connected_gene': 'KIF6', 'score': 9.59}, {'connected_gene': 'DAAM2', 'score': 9.48}, {'connected_gene': 'GC06M039593', 'score': 0.77}, {'connected_gene': 'LOC100124373', 'score': 0.25}]
chr6 GH06I039706 39706164 39722092 0.64 [{'connected_gene': 'KIF6', 'score': 23.1}, {'connected_gene': 'DAAM2', 'score': 4.37}, {'connected_gene': 'GC06P042415', 'score': 0.2}]
chr6 GH06I039662 39662868 39668693 0.46 [{'connected_gene': 'KIF6', 'score': 22.71}, {'connected_gene': 'DAAM2', 'score': 10.18}, {'connected_gene': 'GC06P042415', 'score': 0.37}]
chr6 GH06I039890 39890084 39894213 0.59 [{'connected_gene': 'LOC100505635', 'score': 6.58}, {'connected_gene': 'MOCS1', 'score': 5.68}, {'connected_gene': 'TDRG1', 'score': 4.63}, {'connected_gene': 'ENSG00000281969', 'score': 0.19}, {'connected_gene': 'DAAM2', 'score': 0.15}]
chr6 GH06I039896 39896347 39903896 0.57 [{'connected_gene': 'LOC100505635', 'score': 556.07}, {'connected_gene': 'MOCS1', 'score': 8.44}, {'connected_gene': 'GC06P042408', 'score': 0.39}, {'connected_gene': 'DAAM2', 'score': 0.14}]
chr6 GH06I039805 39805791 39807025 0.2 [{'connected_gene': 'LOC100505635', 'score': 10.84}, {'connected_gene': 'ENSG00000281969', 'score': 0.39}, {'connected_gene': 'DAAM2', 'score': 0.39}]
chr6 GH06I039801 39801665 39801814 0.76 [{'connected_gene': 'LOC100505635', 'score': 10.84}, {'connected_gene': 'DAAM2', 'score': 0.44}, {'connected_gene': 'ENSG00000281969', 'score': 0.37}]
chr6 GH06I039874 39874120 39874940 0.2 [{'connected_gene': 'LOC100505635', 'score': 12.07}, {'connected_gene': 'DAAM2', 'score': 10.06}, {'connected_gene': 'ENSG00000281969', 'score': 0.22}]
chr6 GH06I039808 39808073 39809804 0.38 [{'connected_gene': 'LOC100505635', 'score': 10.84}, {'connected_gene': 'DAAM2', 'score': 4.6}, {'connected_gene': 'ENSG00000281969', 'score': 0.44}]
chr6 GH06I039803 39803926 39804174 0.4 [{'connected_gene': 'LOC100505635', 'score': 10.84}, {'connected_gene': 'ENSG00000281969', 'score': 0.39}, {'connected_gene': 'DAAM2', 'score': 0.39}]
chr6 GH06I039804 39804825 39804974 0.58 [{'connected_gene': 'LOC100505635', 'score': 10.84}, {'connected_gene': 'ENSG00000281969', 'score': 0.39}, {'connected_gene': 'DAAM2', 'score': 0.39}]
chr6 GH06I039834 39834096 39834269 0.2 [{'connected_gene': 'ENSG00000281969', 'score': 0.37}, {'connected_gene': 'DAAM2', 'score': 0.26}, {'connected_gene': 'LOC100505635', 'score': 0.2}]
chr6 GH06I039818 39818228 39820192 0.91 [{'connected_gene': 'ENSG00000281969', 'score': 550.77}, {'connected_gene': 'DAAM2', 'score': 11.24}, {'connected_gene': 'LOC100505635', 'score': 0.18}]
chr6 GH06I039816 39816137 39817906 0.31 [{'connected_gene': 'ENSG00000281969', 'score': 550.77}, {'connected_gene': 'DAAM2', 'score': 16.7}]
chr6 GH06I039850 39850201 39850400 0.51 [{'connected_gene': 'ENSG00000281969', 'score': 0.29}, {'connected_gene': 'LOC100505635', 'score': 0.25}, {'connected_gene': 'DAAM2', 'score': 0.22}]
chr6 GH06I039857 39857728 39859326 0.31 [{'connected_gene': 'ENSG00000281969', 'score': 0.28}, {'connected_gene': 'LOC100505635', 'score': 0.26}, {'connected_gene': 'DAAM2', 'score': 0.2}]

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