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
ENST00000503687 [[66093944, 66094195], [66103239, 66103418], [66103842, 66103916], [66236869, 66237065], [66238677, 66238797], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66261762, 66261879], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66276174]] [[66094051, 66094195], [66103239, 66103418], [66103842, 66103916], [66236869, 66237065], [66238677, 66238783]]
ENST00000275532 [[66093867, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66108038]] [[66094051, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104219]]
ENST00000443322 [[66093929, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104215], [66105380, 66105552]] [[66094051, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104215], [66105380, 66105381]]
ENST00000449064 [[66093944, 66094195], [66103239, 66103418], [66103842, 66103916]] [[66094051, 66094195], [66103239, 66103418], [66103842, 66103916]]
ENST00000510829 [[66205642, 66205779], [66236869, 66237065], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66276446]] [[66236886, 66237065], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66274271]]
ENST00000380828 [[66205642, 66205779], [66236869, 66237065], [66238677, 66238779], [66238914, 66238932], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66276446]] [[66236886, 66237065], [66238677, 66238779], [66238914, 66238932], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66274271]]
ENST00000451741 [[66205719, 66205779], [66233817, 66234012], [66236869, 66237065], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66274425]] [[66236886, 66237065], [66240213, 66240380], [66248661, 66248828], [66260497, 66260579], [66262360, 66262493], [66264309, 66264401], [66270126, 66270383], [66273872, 66274271]]
NM_001167961 [[66093867, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104215], [66105380, 66108216]] [[66094051, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104215], [66105380, 66105381]]
NM_153033 [[66093867, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66108216]] [[66094051, 66094195], [66098261, 66098431], [66103239, 66103418], [66103842, 66104219]]
Promoter
Chrom Start End Description
chr7 66093851 66093880 CAGE_peak_5_at_KCTD7_5end,CAGE_peak_8_at_RABGEF1_5end
chr7 66093884 66093905 CAGE_peak_6_at_KCTD7_5end,CAGE_peak_9_at_RABGEF1_5end
chr7 66093908 66093974 CAGE_peak_4_at_KCTD7_5end,CAGE_peak_5_at_RABGEF1_5end
chr7 66094011 66094053 CAGE_peak_3_at_KCTD7_5end,CAGE_peak_4_at_RABGEF1_5end
chr7 66205671 66205698 CAGE_peak_2_at_KCTD7_5end,CAGE_peak_3_at_RABGEF1_5end
chr7 66205712 66205726 CAGE_peak_1_at_KCTD7_5end,CAGE_peak_1_at_RABGEF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I066325 66325163 66325392 0.29 [{'connected_gene': 'RABGEF1', 'score': 7.79}, {'connected_gene': 'KCTD7', 'score': 7.44}, {'connected_gene': 'TPST1', 'score': 1.26}, {'connected_gene': 'RNU6-313P', 'score': 0.37}, {'connected_gene': 'GC07P066346', 'score': 0.37}, {'connected_gene': 'GC07P066239', 'score': 0.17}]
chr7 GH07I066295 66295544 66297716 1.15 [{'connected_gene': 'RABGEF1', 'score': 7.95}, {'connected_gene': 'KCTD7', 'score': 6.83}, {'connected_gene': 'RNU6-313P', 'score': 0.25}, {'connected_gene': 'GC07P066346', 'score': 0.25}, {'connected_gene': 'GC07P066239', 'score': 0.22}, {'connected_gene': 'TPST1', 'score': 0.16}]
chr7 GH07I066781 66781579 66784872 0.83 [{'connected_gene': 'RABGEF1', 'score': 25.85}, {'connected_gene': 'KCTD7', 'score': 11.23}, {'connected_gene': 'ENSG00000229180', 'score': 10.43}, {'connected_gene': 'GC07M066788', 'score': 0.44}, {'connected_gene': 'ENSG00000271064', 'score': 0.29}]
chr7 GH07I066769 66769001 66769200 0.31 [{'connected_gene': 'RABGEF1', 'score': 11.81}, {'connected_gene': 'KCTD7', 'score': 11.75}, {'connected_gene': 'GC07M066788', 'score': 0.37}, {'connected_gene': 'ENSG00000271064', 'score': 0.34}, {'connected_gene': 'GC07P066740', 'score': 0.31}]
chr7 GH07I066767 66767601 66767800 0.2 [{'connected_gene': 'RABGEF1', 'score': 11.81}, {'connected_gene': 'KCTD7', 'score': 11.76}, {'connected_gene': 'ENSG00000271064', 'score': 0.37}, {'connected_gene': 'GC07M066788', 'score': 0.34}, {'connected_gene': 'GC07P066740', 'score': 0.31}]
chr7 GH07I066739 66739267 66743437 2.33 [{'connected_gene': 'RABGEF1', 'score': 582.03}, {'connected_gene': 'GC07P066740', 'score': 550.77}, {'connected_gene': 'ENSG00000272831', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 60.22}, {'connected_gene': 'KCTD7', 'score': 4.82}, {'connected_gene': 'TMEM248', 'score': 1.31}, {'connected_gene': 'ENSG00000271064', 'score': 0.44}]
chr7 GH07I066687 66687536 66687588 0.6 [{'connected_gene': 'KCTD7', 'score': 3.16}, {'connected_gene': 'RABGEF1', 'score': 2.83}, {'connected_gene': 'GC07M066672', 'score': 0.77}, {'connected_gene': 'GC07P066740', 'score': 0.23}]
chr7 GH07I066625 66625550 66632156 2.46 [{'connected_gene': 'KCTD7', 'score': 562.5}, {'connected_gene': 'LOC100996437', 'score': 57.15}, {'connected_gene': 'RABGEF1', 'score': 32.21}, {'connected_gene': 'VKORC1L1', 'score': 28.36}, {'connected_gene': 'GS1-124K5.4', 'score': 21.05}, {'connected_gene': 'ENSG00000273448', 'score': 16.15}, {'connected_gene': 'SPDYE21P', 'score': 14.32}, {'connected_gene': 'ENSG00000229180', 'score': 12.29}, {'connected_gene': 'ENSG00000244657', 'score': 9.74}, {'connected_gene': 'CCT6P1', 'score': 4.16}, {'connected_gene': 'PIR62631', 'score': 0.39}]
chr7 GH07I066779 66779689 66780658 0.52 [{'connected_gene': 'VKORC1L1', 'score': 29.14}, {'connected_gene': 'RABGEF1', 'score': 25.68}, {'connected_gene': 'GS1-124K5.4', 'score': 14.73}, {'connected_gene': 'KCTD7', 'score': 11.23}, {'connected_gene': 'LOC644794', 'score': 5.21}, {'connected_gene': 'GC07M066788', 'score': 0.44}, {'connected_gene': 'ENSG00000271064', 'score': 0.29}]
chr7 GH07I066250 66250145 66252090 1.33 [{'connected_gene': 'LOC100996437', 'score': 33.9}, {'connected_gene': 'TPST1', 'score': 11.74}, {'connected_gene': 'RABGEF1', 'score': 9.21}, {'connected_gene': 'KCTD7', 'score': 4.58}, {'connected_gene': 'CCT6P1', 'score': 4.08}, {'connected_gene': 'VKORC1L1', 'score': 3.76}, {'connected_gene': 'GC07P066239', 'score': 0.39}, {'connected_gene': 'RNU6-313P', 'score': 0.16}, {'connected_gene': 'GC07P066346', 'score': 0.16}]
chr7 GH07I066413 66413014 66414400 1.39 [{'connected_gene': 'LOC100996437', 'score': 33.7}, {'connected_gene': 'RABGEF1', 'score': 22.48}, {'connected_gene': 'CCT6P1', 'score': 6.72}, {'connected_gene': 'KCTD7', 'score': 4.32}, {'connected_gene': 'GTF2IP9', 'score': 0.77}, {'connected_gene': 'SKP1P1', 'score': 0.39}, {'connected_gene': 'LINC00174', 'score': 0.18}, {'connected_gene': 'TPST1', 'score': 0.08}]
chr7 GH07I066297 66297775 66298073 0.65 [{'connected_gene': 'LOC100996437', 'score': 38.14}, {'connected_gene': 'RABGEF1', 'score': 16.17}, {'connected_gene': 'KCTD7', 'score': 7.28}, {'connected_gene': 'RNU6-313P', 'score': 0.25}, {'connected_gene': 'GC07P066346', 'score': 0.25}, {'connected_gene': 'GC07P066239', 'score': 0.22}, {'connected_gene': 'TPST1', 'score': 0.16}]
chr7 GH07I066653 66653033 66656876 2.06 [{'connected_gene': 'LOC100996437', 'score': 589.6}, {'connected_gene': 'RABGEF1', 'score': 28.7}, {'connected_gene': 'VKORC1L1', 'score': 28.34}, {'connected_gene': 'GS1-124K5.4', 'score': 20.95}, {'connected_gene': 'CRCP', 'score': 17.46}, {'connected_gene': 'KCTD7', 'score': 15.52}, {'connected_gene': 'ENSG00000229180', 'score': 5.94}, {'connected_gene': 'TYW1', 'score': 5.19}, {'connected_gene': 'GC07M066657', 'score': 0.44}]
chr7 GH07I066757 66757802 66760199 1.18 [{'connected_gene': 'LOC100996437', 'score': 59.88}, {'connected_gene': 'RABGEF1', 'score': 34.15}, {'connected_gene': 'GS1-124K5.4', 'score': 20.16}, {'connected_gene': 'CRCP', 'score': 16.92}, {'connected_gene': 'KCTD7', 'score': 7.69}, {'connected_gene': 'ENSG00000271064', 'score': 0.44}, {'connected_gene': 'GC07P066740', 'score': 0.37}, {'connected_gene': 'GC07M066788', 'score': 0.31}]
chr7 GH07I066139 66139546 66143781 0.91 [{'connected_gene': 'LOC100996437', 'score': 32.74}, {'connected_gene': 'VKORC1L1', 'score': 29.44}, {'connected_gene': 'TPST1', 'score': 20.04}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'KCTD7', 'score': 10.65}, {'connected_gene': 'PIR31229', 'score': 0.77}, {'connected_gene': 'GC07P066141', 'score': 0.77}, {'connected_gene': 'ENSG00000234185', 'score': 0.34}, {'connected_gene': 'CRCP', 'score': 0.31}, {'connected_gene': 'ENSG00000249319', 'score': 0.23}]
chr7 GH07I066634 66634310 66637152 1.1 [{'connected_gene': 'LOC100996437', 'score': 54.8}, {'connected_gene': 'VKORC1L1', 'score': 28.34}, {'connected_gene': 'RABGEF1', 'score': 26.98}, {'connected_gene': 'PIR62631', 'score': 0.44}, {'connected_gene': 'KCTD7', 'score': 0.44}]
chr7 GH07I066618 66618373 66620567 0.68 [{'connected_gene': 'LOC100996437', 'score': 53.61}, {'connected_gene': 'GS1-124K5.4', 'score': 20.47}, {'connected_gene': 'RABGEF1', 'score': 15.8}, {'connected_gene': 'TPST1', 'score': 10.08}, {'connected_gene': 'KCTD7', 'score': 0.44}, {'connected_gene': 'RPL35P5', 'score': 0.39}]
chr7 GH07I066281 66281254 66284553 1.48 [{'connected_gene': 'LOC100996437', 'score': 39.79}, {'connected_gene': 'GS1-124K5.4', 'score': 21.74}, {'connected_gene': 'CRCP', 'score': 17.84}, {'connected_gene': 'TPST1', 'score': 11.49}, {'connected_gene': 'RABGEF1', 'score': 10.22}, {'connected_gene': 'KCTD7', 'score': 6.09}, {'connected_gene': 'GC07P066239', 'score': 0.26}, {'connected_gene': 'RNU6-313P', 'score': 0.21}, {'connected_gene': 'GC07P066346', 'score': 0.21}]
chr7 GH07I066589 66589801 66593657 1.26 [{'connected_gene': 'ENSG00000229180', 'score': 554.46}, {'connected_gene': 'GS1-124K5.11', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 57.1}, {'connected_gene': 'VKORC1L1', 'score': 28.98}, {'connected_gene': 'CRCP', 'score': 19.83}, {'connected_gene': 'RABGEF1', 'score': 15.75}, {'connected_gene': 'KCTD7', 'score': 12.68}, {'connected_gene': 'RPL35P5', 'score': 10.61}, {'connected_gene': 'CCT6P1', 'score': 5.36}, {'connected_gene': 'ENSG00000177418', 'score': 0.29}]
chr7 GH07I066640 66640425 66641885 0.87 [{'connected_gene': 'PIR62631', 'score': 550.77}, {'connected_gene': 'RABGEF1', 'score': 26.99}, {'connected_gene': 'LOC100996437', 'score': 4.39}, {'connected_gene': 'KCTD7', 'score': 0.39}]
chr7 GH07I066642 66642235 66642857 0.2 [{'connected_gene': 'PIR62631', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 55.99}, {'connected_gene': 'RABGEF1', 'score': 10.73}, {'connected_gene': 'TPST1', 'score': 9.62}, {'connected_gene': 'GC07P066646', 'score': 0.77}, {'connected_gene': 'KCTD7', 'score': 0.39}]