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
ENST00000307839 [[23958035, 23958664], [23959340, 23959522], [23959930, 23960067], [23960686, 23962468]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
ENST00000422218 [[23958081, 23958259], [23959340, 23959522], [23959930, 23960067], [23960686, 23960777]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960777]]
ENST00000434031 [[23958469, 23958586], [23959340, 23959522], [23959930, 23960067], [23960686, 23960900]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960900]]
ENST00000413699 [[23958621, 23958730], [23959340, 23959522], [23959930, 23960067], [23960686, 23962311]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
ENST00000456530 [[23958629, 23958664], [23959340, 23959522], [23959930, 23960067], [23960686, 23960737], [23963088, 23965183]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960737], [23963088, 23963166]]
ENST00000412097 [[23958637, 23958664], [23959340, 23959522], [23959930, 23960074], [23960693, 23960902]] [[23959350, 23959522], [23959930, 23960074], [23960693, 23960902]]
ENST00000415719 [[23958638, 23958664], [23959023, 23959156], [23959340, 23959522], [23959930, 23960067], [23960686, 23961038]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
ENST00000490223 [[23958638, 23960067], [23960686, 23961042]] None
ENST00000465786 [[23958638, 23958664], [23959340, 23961043]] None
ENST00000435882 [[23958638, 23958786], [23959340, 23959522], [23959930, 23960067], [23960686, 23961282]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
ENST00000354811 [[23959195, 23959522], [23959930, 23960067], [23960686, 23961042]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
ENST00000436146 [[23959337, 23959538], [23959930, 23960067], [23960686, 23962338]] [[23959350, 23959530]]
NM_002948 [[23958294, 23958664], [23959340, 23959522], [23959930, 23960067], [23960686, 23962347]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
NM_001253379 [[23958294, 23958664], [23959327, 23959522], [23959930, 23960067], [23960686, 23962347]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
NM_001253384 [[23958294, 23958664], [23959340, 23959522], [23959930, 23960067], [23960686, 23960737], [23963088, 23965187]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960737], [23963088, 23963166]]
NM_001253383 [[23958617, 23958730], [23959340, 23959522], [23959930, 23960067], [23960686, 23962347]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
NM_001253382 [[23958652, 23958786], [23959340, 23959522], [23959930, 23960067], [23960686, 23962347]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
NM_001253380 [[23959195, 23959522], [23959930, 23960067], [23960686, 23962347]] [[23959350, 23959522], [23959930, 23960067], [23960686, 23960992]]
Promoter
Chrom Start End Description
chr3 23958612 23958630 CAGE_peak_1_at_RPL15_5end
chr3 23958632 23958651 CAGE_peak_2_at_RPL15_5end
chr3 23958661 23958672 CAGE_peak_3_at_RPL15_5end
chr3 23959185 23959240 CAGE_peak_4_at_RPL15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I024237 24237512 24239304 1.32 [{'connected_gene': 'NR1D2', 'score': 12.34}, {'connected_gene': 'RPL15', 'score': 9.75}, {'connected_gene': 'LOC101927854', 'score': 0.17}, {'connected_gene': 'GC03M024338', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I023968 23968550 23968659 0.6 [{'connected_gene': 'NR1D2', 'score': 12.18}, {'connected_gene': 'NKIRAS1', 'score': 12.18}, {'connected_gene': 'RPL15', 'score': 11.46}, {'connected_gene': 'NPM1P23', 'score': 0.13}]
chr3 GH03I023999 23999200 23999401 0.78 [{'connected_gene': 'NR1D2', 'score': 11.23}, {'connected_gene': 'NKIRAS1', 'score': 11.23}, {'connected_gene': 'RPL15', 'score': 10.49}, {'connected_gene': 'NPM1P23', 'score': 0.15}]
chr3 GH03I023945 23944118 23944119 0.54 [{'connected_gene': 'NR1D2', 'score': 550.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'RPL15', 'score': 0.31}]
chrX GH0XI154443 154443064 154445388 1.81 [{'connected_gene': 'FAM50A', 'score': 572.48}, {'connected_gene': 'GC0XP154443', 'score': 550.77}, {'connected_gene': 'GC0XP154446', 'score': 550.77}, {'connected_gene': 'GC0XM154442', 'score': 550.77}, {'connected_gene': 'GC0XM154443', 'score': 550.77}, {'connected_gene': 'GC0XM154444', 'score': 550.77}, {'connected_gene': 'LAGE3', 'score': 13.67}, {'connected_gene': 'UBL4A', 'score': 13.66}, {'connected_gene': 'RPL10', 'score': 12.81}, {'connected_gene': 'GDI1', 'score': 0.44}, {'connected_gene': 'MIR6858', 'score': 0.44}]
chr3 GH03I023746 23746423 23747239 0.98 [{'connected_gene': 'UBE2E1', 'score': 5.07}, {'connected_gene': 'RPL15', 'score': 5.05}, {'connected_gene': 'GC03M023675', 'score': 0.22}]
chr3 GH03I024489 24489750 24497440 2.49 [{'connected_gene': 'THRB-AS1', 'score': 555.04}, {'connected_gene': 'THRB', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 9.97}, {'connected_gene': 'ENSG00000272554', 'score': 0.44}, {'connected_gene': 'THRB-IT1', 'score': 0.29}]
chr3 GH03I023963 23963004 23964448 0.7 [{'connected_gene': 'RPL15', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 0.37}, {'connected_gene': 'NKIRAS1', 'score': 0.37}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023952 23952750 23952899 0.65 [{'connected_gene': 'RPL15', 'score': 11.71}, {'connected_gene': 'NR1D2', 'score': 0.44}, {'connected_gene': 'NKIRAS1', 'score': 0.44}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023949 23949414 23950898 0.82 [{'connected_gene': 'RPL15', 'score': 11.73}, {'connected_gene': 'NR1D2', 'score': 0.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023958 23958027 23960257 1 [{'connected_gene': 'RPL15', 'score': 11.51}, {'connected_gene': 'NR1D2', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.39}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023923 23923950 23924139 0.78 [{'connected_gene': 'RPL15', 'score': 0.44}, {'connected_gene': 'NR1D2', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.34}]
chr3 GH03I023731 23731110 23731259 0.87 [{'connected_gene': 'RPL15', 'score': 9.81}, {'connected_gene': 'GC03M023675', 'score': 0.26}, {'connected_gene': 'UBE2E1', 'score': 0.19}]
chr3 GH03I023710 23710142 23711288 0.77 [{'connected_gene': 'RPL15', 'score': 13.05}, {'connected_gene': 'GC03M023675', 'score': 0.34}, {'connected_gene': 'UBE2E1', 'score': 0.15}]
chr3 GH03I023888 23888730 23888859 0.6 [{'connected_gene': 'RPL15', 'score': 13.4}, {'connected_gene': 'NKIRAS1', 'score': 13.31}, {'connected_gene': 'NR1D2', 'score': 11.03}, {'connected_gene': 'UBE2E1-AS1', 'score': 10.39}, {'connected_gene': 'UBE2E1', 'score': 10.39}, {'connected_gene': 'PIR33503', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.44}]
chr3 GH03I023826 23826201 23826600 0.63 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.34}]
chr3 GH03I023825 23825201 23825600 0.43 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.37}]
chr3 GH03I023873 23873970 23875091 0.69 [{'connected_gene': 'RPL15', 'score': 11.54}, {'connected_gene': 'NKIRAS1', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 11.17}, {'connected_gene': 'ARL4AP4', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.2}]
chr3 GH03I023864 23864754 23866819 0.91 [{'connected_gene': 'RPL15', 'score': 11.8}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.12}, {'connected_gene': 'UBE2E1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 11.06}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.39}]
chr3 GH03I023858 23858816 23860473 0.43 [{'connected_gene': 'RPL15', 'score': 11.79}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'NR1D2', 'score': 11.04}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'GC03P023854', 'score': 0.44}]
chr3 GH03I023914 23914801 23915000 0.38 [{'connected_gene': 'RPL15', 'score': 550.77}, {'connected_gene': 'PIR33503', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.29}]
chrX GH0XI154387 154387330 154387903 0.2 [{'connected_gene': 'RPL10', 'score': 0.77}, {'connected_gene': 'EMD', 'score': 0.44}]
chrX GH0XI154388 154388800 154391201 0.7 [{'connected_gene': 'RPL10', 'score': 550.77}, {'connected_gene': 'ENSG00000280195', 'score': 0.44}]
chrX GH0XI154384 154384202 154385999 0.77 [{'connected_gene': 'PLXNA3', 'score': 25.18}, {'connected_gene': 'RPL10', 'score': 0.77}, {'connected_gene': 'EMD', 'score': 0.44}]
chr3 GH03I023915 23915171 23919257 2.14 [{'connected_gene': 'NKIRAS1', 'score': 563.1}, {'connected_gene': 'RPL15', 'score': 550.77}, {'connected_gene': 'NR1D2', 'score': 13.1}]
chr3 GH03I023991 23991141 23992979 1.02 [{'connected_gene': 'NKIRAS1', 'score': 11.24}, {'connected_gene': 'RPL15', 'score': 11.17}, {'connected_gene': 'NPM1P23', 'score': 0.14}]
chrX GH0XI154396 154396385 154402574 2.29 [{'connected_gene': 'SNORA70', 'score': 590.53}, {'connected_gene': 'ENSG00000280195', 'score': 550.77}, {'connected_gene': 'GC0XP154401', 'score': 550.77}, {'connected_gene': 'GC0XP154402', 'score': 550.77}, {'connected_gene': 'RPL10', 'score': 550.44}, {'connected_gene': 'PLXNA3', 'score': 59.02}, {'connected_gene': 'HCFC1', 'score': 50.57}, {'connected_gene': 'DKC1', 'score': 43.23}, {'connected_gene': 'SNORA56', 'score': 34.62}, {'connected_gene': 'EMD', 'score': 25.31}, {'connected_gene': 'SLC10A3', 'score': 25.22}, {'connected_gene': 'DNASE1L1', 'score': 20.84}, {'connected_gene': 'TMEM187', 'score': 19.15}, {'connected_gene': 'FAM50A', 'score': 14.77}, {'connected_gene': 'FLNA', 'score': 12.4}, {'connected_gene': 'TAZ', 'score': 12.19}]
chrX GH0XI154376 154376295 154381994 2.2 [{'connected_gene': 'EMD', 'score': 563.64}, {'connected_gene': 'PLXNA3', 'score': 29.83}, {'connected_gene': 'DKC1', 'score': 24.98}, {'connected_gene': 'HCFC1', 'score': 20.95}, {'connected_gene': 'SNORA70', 'score': 15.43}, {'connected_gene': 'SLC10A3', 'score': 13.18}, {'connected_gene': 'SNORA56', 'score': 12.77}, {'connected_gene': 'TMEM187', 'score': 11.4}, {'connected_gene': 'RPL10', 'score': 10.5}, {'connected_gene': 'CH17-340M24.3', 'score': 4.0}, {'connected_gene': 'F8A1', 'score': 3.66}, {'connected_gene': 'FLNA', 'score': 0.77}]
chrX GH0XI154408 154408310 154410284 1.87 [{'connected_gene': 'DNASE1L1', 'score': 567.59}, {'connected_gene': 'FAM3A', 'score': 5.52}, {'connected_gene': 'TAZ', 'score': 0.77}, {'connected_gene': 'SNORA70', 'score': 0.44}, {'connected_gene': 'RPL10', 'score': 0.37}]
chrX GH0XI154407 154407215 154407274 0.61 [{'connected_gene': 'DNASE1L1', 'score': 550.77}, {'connected_gene': 'TAZ', 'score': 0.77}, {'connected_gene': 'SNORA70', 'score': 0.44}, {'connected_gene': 'RPL10', 'score': 0.37}]
chr3 GH03I023829 23829298 23830399 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 12.33}, {'connected_gene': 'UBE2E1', 'score': 12.33}, {'connected_gene': 'NR1D2', 'score': 11.42}, {'connected_gene': 'NKIRAS1', 'score': 11.42}, {'connected_gene': 'RPL15', 'score': 11.16}, {'connected_gene': 'GC03P023841', 'score': 0.39}]
chr3 GH03I023856 23856286 23858273 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'RPL15', 'score': 11.17}, {'connected_gene': 'NKIRAS1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 10.85}, {'connected_gene': 'GC03P023854', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.77}]
chr3 GH03I023805 23805357 23812256 2.05 [{'connected_gene': 'UBE2E1-AS1', 'score': 550.77}, {'connected_gene': 'UBE2E1', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 23.15}, {'connected_gene': 'NKIRAS1', 'score': 10.52}, {'connected_gene': 'NR1D2', 'score': 10.12}, {'connected_gene': 'GC03P023841', 'score': 0.29}]
chr3 GH03I023880 23880823 23881220 0.31 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.19}, {'connected_gene': 'PIR33503', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.18}]
chr3 GH03I023876 23876732 23878291 0.84 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'UBE2E1-AS1', 'score': 12.43}, {'connected_gene': 'UBE2E1', 'score': 12.43}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.18}, {'connected_gene': 'GC03M023860', 'score': 0.37}]
chr3 GH03I023904 23904996 23905324 0.22 [{'connected_gene': 'PIR33503', 'score': 0.39}, {'connected_gene': 'RPL15', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.26}]
chr3 GH03I023894 23894103 23894454 0.47 [{'connected_gene': 'PIR33503', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.23}]

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