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
ENST00000397977 [[19674650, 19675177], [19675785, 19675853], [19677083, 19677187], [19677889, 19678029], [19679949, 19680031], [19680811, 19680952], [19681383, 19681555], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19700358, 19700438], [19701586, 19701749], [19703214, 19703308], [19709159, 19709589]] [[19675048, 19675177], [19675785, 19675853], [19677083, 19677187], [19677889, 19678029], [19679949, 19680031], [19680811, 19680952], [19681383, 19681555], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19700358, 19700438], [19701586, 19701749], [19703214, 19703308], [19709159, 19709316]]
ENST00000518424 [[19674901, 19675177], [19675785, 19675984], [19677083, 19677164]] [[19675048, 19675177], [19675785, 19675857]]
ENST00000522114 [[19674947, 19675177], [19675704, 19675853], [19677083, 19677187], [19677889, 19678029]] [[19675048, 19675177], [19675704, 19675773]]
ENST00000520985 [[19674949, 19675177], [19675785, 19676383]] None
ENST00000521758 [[19674960, 19675177], [19675785, 19675853], [19677083, 19677187], [19679949, 19680031]] None
ENST00000523869 [[19675091, 19675177], [19675785, 19675853], [19677889, 19678029], [19679949, 19680031], [19680811, 19680963]] [[19675091, 19675177], [19675785, 19675853], [19677889, 19677899]]
ENST00000522081 [[19678459, 19680031], [19680811, 19680952], [19681383, 19682003]] None
ENST00000523846 [[19680898, 19680952], [19681383, 19681492], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621]] [[19680898, 19680952], [19681383, 19681492], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621]]
ENST00000522806 [[19681405, 19681555], [19683936, 19683999]] None
ENST00000523143 [[19682174, 19682483], [19683936, 19684070], [19687916, 19688037]] None
ENST00000521357 [[19682348, 19682483], [19687916, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19700358, 19700438], [19701586, 19701748]] [[19682348, 19682483], [19687916, 19687930]]
ENST00000518799 [[19688029, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19703214, 19703285]] [[19688029, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19703214, 19703285]]
ENST00000519493 [[19689611, 19689621], [19690679, 19690832], [19694562, 19695028]] None
ENST00000520670 [[19694563, 19694671], [19700358, 19700438], [19709159, 19709594]] [[19694563, 19694671], [19700358, 19700438], [19709159, 19709282]]
ENST00000521008 [[19694591, 19694671], [19699337, 19699466], [19700358, 19700438], [19701586, 19701749], [19703214, 19703308], [19709159, 19709185]] [[19694591, 19694671], [19699337, 19699345]]
ENST00000523772 [[19700409, 19700438], [19701586, 19701749], [19703214, 19703308], [19706672, 19706750], [19709159, 19709572]] [[19700409, 19700438], [19701586, 19701749], [19703214, 19703308], [19706672, 19706750], [19709159, 19709316]]
ENST00000520827 [[19701638, 19701749], [19703207, 19703308], [19709159, 19709578]] [[19701638, 19701749], [19703207, 19703221]]
ENST00000607660 [[19702933, 19703425]] None
ENST00000517546 [[19706273, 19706750], [19709159, 19709546]] None
NM_018142 [[19674917, 19675177], [19675785, 19675853], [19677083, 19677187], [19677889, 19678029], [19679949, 19680031], [19680811, 19680952], [19681383, 19681555], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19700358, 19700438], [19701586, 19701749], [19703214, 19703308], [19709159, 19709589]] [[19675048, 19675177], [19675785, 19675853], [19677083, 19677187], [19677889, 19678029], [19679949, 19680031], [19680811, 19680952], [19681383, 19681555], [19682313, 19682483], [19683936, 19684070], [19687916, 19688070], [19689538, 19689621], [19690679, 19690832], [19694562, 19694671], [19700358, 19700438], [19701586, 19701749], [19703214, 19703308], [19709159, 19709316]]
Promoter
Chrom Start End Description
chr8 19674657 19674670 CAGE_peak_5_at_INTS10_5end
chr8 19674896 19674918 CAGE_peak_2_at_INTS10_5end
chr8 19674920 19674963 CAGE_peak_1_at_INTS10_5end
chr8 19674967 19674979 CAGE_peak_3_at_INTS10_5end
chr8 19674983 19674994 CAGE_peak_7_at_INTS10_5end
chr8 19675010 19675021 CAGE_peak_4_at_INTS10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I020133 20133810 20133939 0.57 [{'connected_gene': 'SLC18A1', 'score': 10.9}, {'connected_gene': 'LOC105379311', 'score': 10.4}, {'connected_gene': 'INTS10', 'score': 9.89}, {'connected_gene': 'CSGALNACT1', 'score': 9.82}, {'connected_gene': 'LOC105379312', 'score': 0.44}, {'connected_gene': 'GC08M020154', 'score': 0.34}]
chr8 GH08I019290 19290621 19292673 0.96 [{'connected_gene': 'SH2D4A', 'score': 25.52}, {'connected_gene': 'INTS10', 'score': 9.66}, {'connected_gene': 'GC08P019298', 'score': 0.44}, {'connected_gene': 'ENSG00000279919', 'score': 0.39}]
chr8 GH08I019372 19372190 19372339 0.56 [{'connected_gene': 'CSGALNACT1', 'score': 11.14}, {'connected_gene': 'SH2D4A', 'score': 10.37}, {'connected_gene': 'INTS10', 'score': 10.14}, {'connected_gene': 'GC08M019353', 'score': 0.37}, {'connected_gene': 'PIR49052', 'score': 0.37}, {'connected_gene': 'LOC102724881', 'score': 0.29}]
chr8 GH08I019408 19408010 19410213 1.23 [{'connected_gene': 'CSGALNACT1', 'score': 34.04}, {'connected_gene': 'INTS10', 'score': 10.29}, {'connected_gene': 'SH2D4A', 'score': 9.99}, {'connected_gene': 'LOC102724881', 'score': 0.44}, {'connected_gene': 'LOC105379308', 'score': 0.11}]
chr8 GH08I019717 19717811 19721311 1.1 [{'connected_gene': 'CSGALNACT1', 'score': 38.38}, {'connected_gene': 'INTS10', 'score': 10.02}, {'connected_gene': 'SH2D4A', 'score': 5.45}, {'connected_gene': 'ENSG00000253270', 'score': 0.26}]
chr8 GH08I019602 19602000 19602601 1.72 [{'connected_gene': 'CSGALNACT1', 'score': 560.84}, {'connected_gene': 'INTS10', 'score': 9.7}, {'connected_gene': 'GC08M019610', 'score': 0.44}, {'connected_gene': 'LOC105379308', 'score': 0.23}]
chr8 GH08I019607 19607219 19608968 0.82 [{'connected_gene': 'CSGALNACT1', 'score': 10.87}, {'connected_gene': 'INTS10', 'score': 10.14}, {'connected_gene': 'GC08M019610', 'score': 0.77}, {'connected_gene': 'LOC105379308', 'score': 0.22}]
chr8 GH08I019455 19455661 19462696 1.25 [{'connected_gene': 'CSGALNACT1', 'score': 43.15}, {'connected_gene': 'INTS10', 'score': 10.33}, {'connected_gene': 'LOC102724881', 'score': 0.22}, {'connected_gene': 'LOC105379308', 'score': 0.16}]
chr8 GH08I019412 19412208 19412299 0.31 [{'connected_gene': 'CSGALNACT1', 'score': 10.94}, {'connected_gene': 'INTS10', 'score': 10.77}, {'connected_gene': 'LOC102724881', 'score': 0.44}, {'connected_gene': 'LOC105379308', 'score': 0.12}]
chr8 GH08I019413 19413326 19416124 0.97 [{'connected_gene': 'CSGALNACT1', 'score': 33.32}, {'connected_gene': 'INTS10', 'score': 10.77}, {'connected_gene': 'LOC102724881', 'score': 0.39}, {'connected_gene': 'LOC105379308', 'score': 0.12}]
chr8 GH08I019452 19452605 19453074 0.31 [{'connected_gene': 'CSGALNACT1', 'score': 10.79}, {'connected_gene': 'INTS10', 'score': 10.15}, {'connected_gene': 'LOC102724881', 'score': 0.25}, {'connected_gene': 'LOC105379308', 'score': 0.15}]
chr8 GH08I019640 19640702 19642936 1.04 [{'connected_gene': 'CSGALNACT1', 'score': 10.55}, {'connected_gene': 'INTS10', 'score': 10.19}, {'connected_gene': 'GC08M019656', 'score': 0.34}, {'connected_gene': 'GC08M019610', 'score': 0.29}]
chr8 GH08I019758 19758650 19758799 0.49 [{'connected_gene': 'CSGALNACT1', 'score': 550.77}, {'connected_gene': 'INTS10', 'score': 0.22}]
chr8 GH08I019708 19708069 19711003 0.43 [{'connected_gene': 'CSGALNACT1', 'score': 17.64}, {'connected_gene': 'INTS10', 'score': 9.88}, {'connected_gene': 'ENSG00000253270', 'score': 0.29}]
chr8 GH08I019730 19730579 19731741 0.2 [{'connected_gene': 'CSGALNACT1', 'score': 17.27}, {'connected_gene': 'INTS10', 'score': 10.76}, {'connected_gene': 'ENSG00000253270', 'score': 0.23}]
chr8 GH08I019706 19706601 19706800 0.2 [{'connected_gene': 'CSGALNACT1', 'score': 43.53}, {'connected_gene': 'INTS10', 'score': 9.87}, {'connected_gene': 'ENSG00000253270', 'score': 0.31}]
chr8 GH08I019705 19705401 19705600 0.2 [{'connected_gene': 'CSGALNACT1', 'score': 10.79}, {'connected_gene': 'INTS10', 'score': 9.87}, {'connected_gene': 'ENSG00000253270', 'score': 0.31}]
chr8 GH08I019788 19788136 19789819 0.2 [{'connected_gene': 'INTS10', 'score': 18.65}, {'connected_gene': 'CSGALNACT1', 'score': 11.15}]
chr8 GH08I019732 19732384 19732730 0.59 [{'connected_gene': 'INTS10', 'score': 10.76}, {'connected_gene': 'CSGALNACT1', 'score': 8.26}, {'connected_gene': 'ENSG00000253270', 'score': 0.23}]
chr8 GH08I020099 20099001 20099568 0.62 [{'connected_gene': 'INTS10', 'score': 9.75}, {'connected_gene': 'ATP6V1B2', 'score': 4.46}, {'connected_gene': 'LOC105379310', 'score': 0.39}, {'connected_gene': 'LOC105379311', 'score': 0.34}]
chr8 GH08I019816 19816330 19818937 2.09 [{'connected_gene': 'INTS10', 'score': 558.33}, {'connected_gene': 'LPL', 'score': 0.18}]
chr8 GH08I019821 19821070 19821219 0.49 [{'connected_gene': 'INTS10', 'score': 5.24}, {'connected_gene': 'LPL', 'score': 0.18}]
chr8 GH08I020310 20310184 20311815 0.87 [{'connected_gene': 'INTS10', 'score': 20.2}, {'connected_gene': 'RNU6-892P', 'score': 11.11}, {'connected_gene': 'LZTS1', 'score': 0.44}, {'connected_gene': 'LOC105379314', 'score': 0.29}]
chr8 GH08I019967 19967525 19969794 0.31 [{'connected_gene': 'INTS10', 'score': 11.73}, {'connected_gene': 'LOC105379311', 'score': 10.76}, {'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'GC08M019958', 'score': 0.44}]
chr8 GH08I019843 19843656 19845437 0.74 [{'connected_gene': 'INTS10', 'score': 16.3}, {'connected_gene': 'LOC105379311', 'score': 9.8}, {'connected_gene': 'CSGALNACT1', 'score': 9.68}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8 GH08I019861 19861970 19862259 0.49 [{'connected_gene': 'INTS10', 'score': 10.78}, {'connected_gene': 'LOC105379311', 'score': 10.21}, {'connected_gene': 'CSGALNACT1', 'score': 9.83}, {'connected_gene': 'LPL', 'score': 0.28}]
chr8 GH08I019767 19767340 19768199 0.7 [{'connected_gene': 'INTS10', 'score': 11.27}, {'connected_gene': 'LOC105379311', 'score': 9.57}, {'connected_gene': 'CSGALNACT1', 'score': 0.44}]
chr8 GH08I019958 19958057 19959624 0.63 [{'connected_gene': 'INTS10', 'score': 11.73}, {'connected_gene': 'LOC105379311', 'score': 10.68}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8 GH08I019556 19556979 19557291 0.22 [{'connected_gene': 'INTS10', 'score': 9.82}, {'connected_gene': 'LOC105379308', 'score': 0.44}, {'connected_gene': 'GC08M019610', 'score': 0.23}, {'connected_gene': 'CSGALNACT1', 'score': 0.08}]
chr8 GH08I020281 20281751 20284004 0.83 [{'connected_gene': 'INTS10', 'score': 13.36}, {'connected_gene': 'LZTS1-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP257', 'score': 0.44}, {'connected_gene': 'LZTS1', 'score': 0.34}]
chr8 GH08I019704 19704770 19705084 0.24 [{'connected_gene': 'ATP6V1B2', 'score': 17.87}, {'connected_gene': 'CSGALNACT1', 'score': 15.27}, {'connected_gene': 'INTS10', 'score': 9.87}, {'connected_gene': 'ENSG00000253270', 'score': 0.31}]
chr8 GH08I020196 20196540 20199379 2.57 [{'connected_gene': 'ATP6V1B2', 'score': 589.29}, {'connected_gene': 'INTS10', 'score': 11.64}, {'connected_gene': 'GC08P020230', 'score': 0.29}]
chr8 GH08I019873 19873296 19874306 0.43 [{'connected_gene': 'LPL', 'score': 0.31}, {'connected_gene': 'INTS10', 'score': 0.22}]
chr8 GH08I019871 19871450 19871599 0.2 [{'connected_gene': 'LPL', 'score': 0.29}, {'connected_gene': 'INTS10', 'score': 0.23}]
chr8 GH08I019898 19898201 19899000 0.31 [{'connected_gene': 'LPL', 'score': 0.77}, {'connected_gene': 'LOC105379309', 'score': 0.34}, {'connected_gene': 'INTS10', 'score': 0.18}]
chr8 GH08I020125 20125288 20125646 0.44 [{'connected_gene': 'LOC105379312', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.96}, {'connected_gene': 'INTS10', 'score': 10.66}, {'connected_gene': 'ATP6V1B2', 'score': 9.17}, {'connected_gene': 'GC08M020154', 'score': 0.31}]
chr8 GH08I020121 20121890 20122759 0.51 [{'connected_gene': 'LOC105379311', 'score': 11.12}, {'connected_gene': 'INTS10', 'score': 10.36}, {'connected_gene': 'CSGALNACT1', 'score': 9.97}, {'connected_gene': 'LOC105379312', 'score': 0.77}, {'connected_gene': 'RPL30P9', 'score': 0.44}]
chr8 GH08I020119 20119347 20120706 0.52 [{'connected_gene': 'LOC105379311', 'score': 11.12}, {'connected_gene': 'INTS10', 'score': 10.36}, {'connected_gene': 'CSGALNACT1', 'score': 9.97}, {'connected_gene': 'LOC105379312', 'score': 0.44}, {'connected_gene': 'RPL30P9', 'score': 0.44}]
chr8 GH08I020105 20105338 20106432 0.79 [{'connected_gene': 'LOC105379311', 'score': 11.26}, {'connected_gene': 'INTS10', 'score': 8.98}, {'connected_gene': 'LOC105379310', 'score': 0.77}]
chr8 GH08I020102 20102912 20104717 0.66 [{'connected_gene': 'LOC105379311', 'score': 11.48}, {'connected_gene': 'INTS10', 'score': 9.23}, {'connected_gene': 'LOC105379310', 'score': 0.44}]
chr8 GH08I019886 19886201 19887800 0.54 [{'connected_gene': 'LOC105379311', 'score': 9.93}, {'connected_gene': 'LPL', 'score': 0.39}, {'connected_gene': 'LOC105379309', 'score': 0.28}, {'connected_gene': 'INTS10', 'score': 0.2}]
chr8 GH08I020276 20276591 20278115 1.18 [{'connected_gene': 'LZTS1-AS1', 'score': 550.77}, {'connected_gene': 'LZTS1', 'score': 14.43}, {'connected_gene': 'INTS10', 'score': 11.63}, {'connected_gene': 'RNU6-892P', 'score': 10.78}, {'connected_gene': 'RNA5SP257', 'score': 0.39}]
chr8 GH08I020115 20115014 20115931 0.31 [{'connected_gene': 'RPL30P9', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 11.5}, {'connected_gene': 'INTS10', 'score': 10.36}, {'connected_gene': 'CSGALNACT1', 'score': 9.98}, {'connected_gene': 'LOC105379312', 'score': 0.44}]
chr8 GH08I020113 20113800 20114201 0.74 [{'connected_gene': 'RPL30P9', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 11.5}, {'connected_gene': 'INTS10', 'score': 10.19}, {'connected_gene': 'LOC105379312', 'score': 0.39}]
chr8 GH08I020111 20111830 20111979 0.43 [{'connected_gene': 'RPL30P9', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 11.52}, {'connected_gene': 'INTS10', 'score': 10.19}, {'connected_gene': 'LOC105379310', 'score': 0.77}]