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
ENST00000470972 [[108006902, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108151389], [108151467, 108159627]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108151337]]
ENST00000374723 [[108006902, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108152184, 108159627]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108152184, 108152193]]
ENST00000374720 [[108006902, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108159627]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108151337]]
ENST00000374724 [[108006902, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108201452]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108200576]]
ENST00000343170 [[108117756, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108200782]] [[108118616, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108200576]]
ENST00000607692 [[108056946, 108057079], [108061500, 108061590], [108062023, 108062218], [108072004, 108072147], [108097843, 108097868]] None
ENST00000607701 [[108118197, 108118662], [108119431, 108119524]] None
ENST00000436716 [[108148968, 108149022], [108157777, 108158299]] None
NM_001330731 [[108006885, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108200796]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108200561, 108200576]]
NM_001286730 [[108006893, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108152184, 108159628]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108152184, 108152193]]
NM_080546 [[108006893, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108159628]] [[108007149, 108007185], [108061500, 108061590], [108072004, 108072147], [108097843, 108097980], [108110638, 108110732], [108118492, 108118662], [108120624, 108120714], [108123471, 108123611], [108125101, 108125288], [108126835, 108127001], [108127763, 108127920], [108128626, 108128710], [108136878, 108137016], [108145403, 108145640], [108147702, 108147783], [108151313, 108151337]]
Promoter
Chrom Start End Description
chr9 108006880 108006943 CAGE_peak_1_at_SLC44A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I105441 105441707 105442232 0.4 [{'connected_gene': 'FSD1L', 'score': 550.77}, {'connected_gene': 'SLC44A1', 'score': 0.08}]
chr9 GH09I105363 105363460 105364743 0.2 [{'connected_gene': 'FSD1L', 'score': 0.18}, {'connected_gene': 'SLC44A1', 'score': 0.13}]
chr9 GH09I105373 105373327 105374478 0.2 [{'connected_gene': 'FSD1L', 'score': 0.2}, {'connected_gene': 'SLC44A1', 'score': 0.13}]
chr9 GH09I105415 105415201 105415689 0.92 [{'connected_gene': 'FSD1L', 'score': 0.31}, {'connected_gene': 'SLC44A1', 'score': 0.09}]
chr9 GH09I105431 105431371 105433540 0.87 [{'connected_gene': 'FSD1L', 'score': 0.44}, {'connected_gene': 'SLC44A1', 'score': 0.09}]
chr9 GH09I105401 105401632 105402195 0.43 [{'connected_gene': 'FSD1L', 'score': 0.26}, {'connected_gene': 'SLC44A1', 'score': 0.1}]
chr9 GH09I105391 105391968 105393404 0.2 [{'connected_gene': 'FSD1L', 'score': 0.25}, {'connected_gene': 'SLC44A1', 'score': 0.11}]
chr9 GH09I105359 105359510 105361494 0.59 [{'connected_gene': 'FSD1L', 'score': 0.18}, {'connected_gene': 'SLC44A1', 'score': 0.13}]
chr9 GH09I105345 105345658 105347388 0.56 [{'connected_gene': 'FSD1L', 'score': 0.15}, {'connected_gene': 'SLC44A1', 'score': 0.15}]
chr9 GH09I105413 105413640 105413789 0.56 [{'connected_gene': 'FSD1L', 'score': 0.31}, {'connected_gene': 'SLC44A1', 'score': 0.1}]
chr9 GH09I105349 105349293 105351113 0.2 [{'connected_gene': 'FSD1L', 'score': 0.16}, {'connected_gene': 'SLC44A1', 'score': 0.14}]
chr9 GH09I105389 105389920 105390069 0.51 [{'connected_gene': 'FSD1L', 'score': 0.23}, {'connected_gene': 'SLC44A1', 'score': 0.11}]
chr9 GH09I105384 105384980 105386046 1.09 [{'connected_gene': 'FSD1L', 'score': 0.22}, {'connected_gene': 'SLC44A1', 'score': 0.11}]
chr9 GH09I105369 105369248 105371747 0.52 [{'connected_gene': 'FSD1L', 'score': 0.19}, {'connected_gene': 'SLC44A1', 'score': 0.13}]
chr9 GH09I105437 105437780 105440301 0.74 [{'connected_gene': 'TMEM38B', 'score': 4.27}, {'connected_gene': 'FSD1L', 'score': 0.77}, {'connected_gene': 'SLC44A1', 'score': 0.08}]
chr9 GH09I105317 105317169 105321050 1 [{'connected_gene': 'TMEM38B', 'score': 4.54}, {'connected_gene': 'SLC44A1', 'score': 0.19}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105321 105321830 105322865 0.2 [{'connected_gene': 'SLC44A1', 'score': 0.18}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105341 105341659 105342600 0.83 [{'connected_gene': 'SLC44A1', 'score': 0.15}, {'connected_gene': 'FSD1L', 'score': 0.15}]
chr9 GH09I105339 105339738 105341041 0.46 [{'connected_gene': 'SLC44A1', 'score': 0.15}, {'connected_gene': 'FSD1L', 'score': 0.15}]
chr9 GH09I105351 105351724 105351870 0.35 [{'connected_gene': 'SLC44A1', 'score': 6.48}, {'connected_gene': 'FSD1L', 'score': 1.5}]
chr9 GH09I105305 105305832 105307457 0.46 [{'connected_gene': 'SLC44A1', 'score': 5.77}, {'connected_gene': 'FSD1L', 'score': 0.12}]
chr9 GH09I105253 105253884 105255235 0.2 [{'connected_gene': 'SLC44A1', 'score': 5.56}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105405 105405040 105406200 1.16 [{'connected_gene': 'SLC44A1', 'score': 4.87}, {'connected_gene': 'FSD1L', 'score': 0.28}]
chr9 GH09I105269 105269137 105272048 0.2 [{'connected_gene': 'SLC44A1', 'score': 19.61}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105336 105336086 105338704 0.2 [{'connected_gene': 'SLC44A1', 'score': 0.16}, {'connected_gene': 'FSD1L', 'score': 0.15}]
chr9 GH09I105282 105282822 105284419 0.54 [{'connected_gene': 'SLC44A1', 'score': 0.28}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105264 105264401 105264800 0.72 [{'connected_gene': 'SLC44A1', 'score': 0.37}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105312 105312919 105313756 0.38 [{'connected_gene': 'SLC44A1', 'score': 0.2}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105250 105250886 105252834 1.04 [{'connected_gene': 'SLC44A1', 'score': 0.44}, {'connected_gene': 'FSD1L', 'score': 0.08}]
chr9 GH09I105301 105301788 105304680 0.38 [{'connected_gene': 'SLC44A1', 'score': 6.18}, {'connected_gene': 'FSD1L', 'score': 0.12}]
chr9 GH09I105286 105286983 105288327 0.38 [{'connected_gene': 'SLC44A1', 'score': 5.8}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105308 105308548 105310384 0.86 [{'connected_gene': 'SLC44A1', 'score': 5.54}, {'connected_gene': 'FSD1L', 'score': 0.12}]
chr9 GH09I105287 105286095 105286719 0.2 [{'connected_gene': 'SLC44A1', 'score': 5.29}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105329 105329805 105332827 1.01 [{'connected_gene': 'SLC44A1', 'score': 0.17}, {'connected_gene': 'FSD1L', 'score': 0.14}]
chr9 GH09I105310 105310750 105311129 0.2 [{'connected_gene': 'SLC44A1', 'score': 0.2}, {'connected_gene': 'FSD1L', 'score': 0.12}]
chr9 GH09I105290 105289420 105289569 0.69 [{'connected_gene': 'SLC44A1', 'score': 12.39}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105262 105262220 105263577 0.57 [{'connected_gene': 'SLC44A1', 'score': 4.55}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105259 105259446 105261998 0.52 [{'connected_gene': 'SLC44A1', 'score': 5.93}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105402 105402916 105404893 0.38 [{'connected_gene': 'SLC44A1', 'score': 4.74}, {'connected_gene': 'FSD1L', 'score': 0.28}]
chr9 GH09I105255 105255387 105256730 0.2 [{'connected_gene': 'SLC44A1', 'score': 5.36}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105311 105311152 105312198 0.4 [{'connected_gene': 'SLC44A1', 'score': 0.2}, {'connected_gene': 'FSD1L', 'score': 0.12}]
chr9 GH09I105273 105273201 105278259 0.38 [{'connected_gene': 'SLC44A1', 'score': 7.39}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105332 105332851 105334192 0.4 [{'connected_gene': 'SLC44A1', 'score': 0.17}, {'connected_gene': 'FSD1L', 'score': 0.14}]
chr9 GH09I105257 105257601 105258000 0.4 [{'connected_gene': 'SLC44A1', 'score': 0.39}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105267 105267417 105268735 0.2 [{'connected_gene': 'SLC44A1', 'score': 13.83}, {'connected_gene': 'FSD1L', 'score': 0.09}]
chr9 GH09I105313 105313763 105315378 0.2 [{'connected_gene': 'SLC44A1', 'score': 0.2}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105278 105278529 105279307 0.63 [{'connected_gene': 'SLC44A1', 'score': 6.35}, {'connected_gene': 'NIPSNAP3A', 'score': 4.4}, {'connected_gene': 'FSD1L', 'score': 0.1}]
chr9 GH09I105242 105242386 105247081 2.34 [{'connected_gene': 'SLC44A1', 'score': 556.56}, {'connected_gene': 'FKTN', 'score': 20.76}, {'connected_gene': 'RALGAPA1P1', 'score': 15.21}, {'connected_gene': 'FSD1L', 'score': 0.08}]
chr9 GH09I105289 105289805 105293585 1.58 [{'connected_gene': 'SLC44A1', 'score': 18.62}, {'connected_gene': 'ABCA1', 'score': 9.11}, {'connected_gene': 'TMEM38B', 'score': 4.14}, {'connected_gene': 'FSD1L', 'score': 1.38}]
chr9 GH09I105293 105293920 105300930 1.55 [{'connected_gene': 'SLC44A1', 'score': 18.07}, {'connected_gene': 'ABCA1', 'score': 13.29}, {'connected_gene': 'TMEM38B', 'score': 6.85}, {'connected_gene': 'FSD1L', 'score': 1.84}]
chr9 GH09I105055 105055997 105056328 0.76 [{'connected_gene': 'SLC44A1', 'score': 1.4}, {'connected_gene': 'LOC105376197', 'score': 0.28}, {'connected_gene': 'ENSG00000230013', 'score': 0.21}]
chr9 GH09I105323 105323115 105325905 0.31 [{'connected_gene': 'FKTN', 'score': 13.97}, {'connected_gene': 'RALGAPA1P1', 'score': 12.91}, {'connected_gene': 'SLC44A1', 'score': 0.18}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105280 105280107 105282564 0.93 [{'connected_gene': 'ABCA1', 'score': 8.46}, {'connected_gene': 'SLC44A1', 'score': 6.33}, {'connected_gene': 'TMEM38B', 'score': 3.74}, {'connected_gene': 'FSD1L', 'score': 1.44}]
chr9 GH09I105043 105043360 105043495 0.22 [{'connected_gene': 'ABCA1', 'score': 4.1}, {'connected_gene': 'SLC44A1', 'score': 2.28}, {'connected_gene': 'LOC105376197', 'score': 0.25}, {'connected_gene': 'ENSG00000230013', 'score': 0.23}]
chr9 GH09I104971 104971922 104971940 0.22 [{'connected_gene': 'OR13C3', 'score': 6.16}, {'connected_gene': 'SLC44A1', 'score': 3.75}, {'connected_gene': 'OR13C8', 'score': 2.37}, {'connected_gene': 'GC09P104984', 'score': 0.39}, {'connected_gene': 'ABCA1', 'score': 0.26}]
chr9 GH09I104967 104967740 104969696 1.47 [{'connected_gene': 'LOC105376196', 'score': 23.65}, {'connected_gene': 'ABCA1', 'score': 23.13}, {'connected_gene': 'FSD1L', 'score': 1.94}, {'connected_gene': 'SLC44A1', 'score': 1.25}, {'connected_gene': 'GC09P104984', 'score': 0.37}]
chr9 GH09I104906 104906060 104908018 1.39 [{'connected_gene': 'LOC102724761', 'score': 550.77}, {'connected_gene': 'ABCA1', 'score': 12.83}, {'connected_gene': 'LOC105376196', 'score': 12.83}, {'connected_gene': 'OR13C3', 'score': 6.48}, {'connected_gene': 'SLC44A1', 'score': 1.18}]
chr9 GH09I105216 105216923 105217050 0.33 [{'connected_gene': 'GC09P105218', 'score': 550.77}, {'connected_gene': 'SLC44A1', 'score': 9.01}, {'connected_gene': 'TAL2', 'score': 1.62}, {'connected_gene': 'FSD1L', 'score': 1.38}, {'connected_gene': 'RN7SKP191', 'score': 0.13}]
chr9 GH09I105221 105221217 105221239 0.24 [{'connected_gene': 'GC09P105218', 'score': 0.77}, {'connected_gene': 'SLC44A1', 'score': 0.34}]

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