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
ENST00000523752 [[22877645, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885481]] None
ENST00000276431 [[22877645, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926692]] [[22880183, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926407]]
ENST00000347739 [[22879823, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926534]] [[22880183, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926407]]
ENST00000523504 [[22879986, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22926263, 22926544]] [[22887219, 22887234], [22888271, 22888385], [22926263, 22926407]]
ENST00000542226 [[22879986, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22926263, 22926544]] [[22880183, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887145]]
ENST00000520109 [[22880398, 22880497], [22881700, 22881773], [22884645, 22885147]] None
ENST00000518531 [[22885777, 22886115], [22887122, 22887234], [22888271, 22888385]] None
ENST00000519910 [[22886052, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22907289, 22907440]] None
ENST00000519028 [[22900416, 22900756], [22926263, 22926535]] None
NM_003842 [[22877645, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926700]] [[22880183, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926407]]
NM_147187 [[22877645, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926700]] [[22880183, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22900650, 22900756], [22926263, 22926407]]
NR_027140 [[22877645, 22880497], [22881700, 22881773], [22884645, 22884801], [22885234, 22885266], [22885843, 22885954], [22886041, 22886115], [22887122, 22887234], [22888271, 22888385], [22926263, 22926700]] None
Promoter
Chrom Start End Description
chr8 22926497 22926512 CAGE_peak_2_at_TNFRSF10B_5end
chr8 22926526 22926554 CAGE_peak_1_at_TNFRSF10B_5end
chr8 22926559 22926570 CAGE_peak_3_at_TNFRSF10B_5end
chr8 22926623 22926634 CAGE_peak_4_at_TNFRSF10B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023538 23538165 23543672 1.61 [{'connected_gene': 'ENTPD4', 'score': 28.37}, {'connected_gene': 'ENSG00000253200', 'score': 17.04}, {'connected_gene': 'C8orf58', 'score': 13.65}, {'connected_gene': 'BIN3', 'score': 13.55}, {'connected_gene': 'LOC107986927', 'score': 13.12}, {'connected_gene': 'CHMP7', 'score': 12.1}, {'connected_gene': 'ENSG00000253390', 'score': 10.83}, {'connected_gene': 'SLC25A37', 'score': 8.22}, {'connected_gene': 'STC1', 'score': 5.14}, {'connected_gene': 'TNFRSF10B', 'score': 3.56}, {'connected_gene': 'TNFRSF10C', 'score': 3.21}, {'connected_gene': 'GC08M023551', 'score': 0.39}]
chr8 GH08I023217 23217150 23222000 1.34 [{'connected_gene': 'CHMP7', 'score': 29.45}, {'connected_gene': 'ENSG00000253200', 'score': 20.65}, {'connected_gene': 'TNFRSF10A', 'score': 17.2}, {'connected_gene': 'LOC100507071', 'score': 12.56}, {'connected_gene': 'CCAR2', 'score': 12.52}, {'connected_gene': 'C8orf58', 'score': 12.29}, {'connected_gene': 'SORBS3', 'score': 12.01}, {'connected_gene': 'LOC107986927', 'score': 11.8}, {'connected_gene': 'TNFRSF10C', 'score': 11.05}, {'connected_gene': 'R3HCC1', 'score': 10.87}, {'connected_gene': 'ENTPD4', 'score': 10.47}, {'connected_gene': 'LOC100507156', 'score': 9.85}, {'connected_gene': 'LOC389641', 'score': 8.06}, {'connected_gene': 'TNFRSF10B', 'score': 1.55}, {'connected_gene': 'PIR52536', 'score': 0.39}]
chr8 GH08I023518 23518588 23519262 1.62 [{'connected_gene': 'TNFRSF10B', 'score': 3.82}, {'connected_gene': 'ENTPD4', 'score': 1.37}, {'connected_gene': 'SLC25A37', 'score': 0.44}, {'connected_gene': 'LOC105379327', 'score': 0.34}]
chr8 GH08I023067 23067088 23070722 2.3 [{'connected_gene': 'TNFRSF10B', 'score': 566.92}, {'connected_gene': 'LOC286059', 'score': 550.77}, {'connected_gene': 'ENSG00000253616', 'score': 22.75}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'FAM160B2', 'score': 12.63}, {'connected_gene': 'ENSG00000253200', 'score': 10.9}, {'connected_gene': 'BMP1', 'score': 10.25}, {'connected_gene': 'TNFRSF10C', 'score': 7.8}, {'connected_gene': 'PEBP4', 'score': 5.14}, {'connected_gene': 'PPP3CC', 'score': 4.42}]
chr8 GH08I023070 23070801 23071200 0.46 [{'connected_gene': 'TNFRSF10B', 'score': 550.77}, {'connected_gene': 'ENSG00000253616', 'score': 0.77}, {'connected_gene': 'LOC286059', 'score': 0.77}]
chr8 GH08I023049 23049063 23051057 1.22 [{'connected_gene': 'TNFRSF10B', 'score': 18.96}, {'connected_gene': 'RHOBTB2', 'score': 11.08}, {'connected_gene': 'LOC286059', 'score': 0.37}, {'connected_gene': 'PIR57431', 'score': 0.34}]
chr8 GH08I023159 23159833 23164944 2.49 [{'connected_gene': 'TNFRSF10D', 'score': 557.76}, {'connected_gene': 'ENSG00000253200', 'score': 47.32}, {'connected_gene': 'ENTPD4', 'score': 31.4}, {'connected_gene': 'C8orf58', 'score': 28.97}, {'connected_gene': 'POLR3D', 'score': 24.37}, {'connected_gene': 'CCAR2', 'score': 22.78}, {'connected_gene': 'BIN3', 'score': 13.46}, {'connected_gene': 'CHMP7', 'score': 12.77}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'LOC389641', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.88}, {'connected_gene': 'TNFRSF10C', 'score': 11.59}, {'connected_gene': 'R3HCC1', 'score': 11.35}, {'connected_gene': 'SORBS3', 'score': 11.29}, {'connected_gene': 'LOC107986927', 'score': 10.64}, {'connected_gene': 'LOXL2', 'score': 10.36}, {'connected_gene': 'ENSG00000253390', 'score': 10.34}, {'connected_gene': 'TNFRSF10B', 'score': 6.08}, {'connected_gene': 'GC08P023143', 'score': 0.37}]
chr8 GH08I022715 22715001 22716796 1.56 [{'connected_gene': 'BIN3', 'score': 19.83}, {'connected_gene': 'XPO7', 'score': 10.9}, {'connected_gene': 'CCAR2', 'score': 10.19}, {'connected_gene': 'PEBP4', 'score': 6.87}, {'connected_gene': 'TNFRSF10C', 'score': 2.55}, {'connected_gene': 'PDLIM2', 'score': 2.06}, {'connected_gene': 'EGR3', 'score': 1.72}, {'connected_gene': 'TNFRSF10B', 'score': 1.4}, {'connected_gene': 'PPP3CC', 'score': 1.3}, {'connected_gene': 'GC08P022700', 'score': 0.37}, {'connected_gene': 'ENSG00000253125', 'score': 0.31}, {'connected_gene': 'GC08M022705', 'score': 0.26}]
chr8 GH08I023527 23527435 23533888 2.72 [{'connected_gene': 'SLC25A37', 'score': 560.27}, {'connected_gene': 'ENSG00000253200', 'score': 19.0}, {'connected_gene': 'ENTPD4', 'score': 15.02}, {'connected_gene': 'TNFRSF10C', 'score': 13.23}, {'connected_gene': 'LOC107986927', 'score': 13.21}, {'connected_gene': 'C8orf58', 'score': 10.72}, {'connected_gene': 'LOXL2', 'score': 10.51}, {'connected_gene': 'BIN3', 'score': 4.95}, {'connected_gene': 'TNFRSF10B', 'score': 1.21}, {'connected_gene': 'GC08M023551', 'score': 0.34}]
chr8 GH08I023557 23557683 23562501 1.55 [{'connected_gene': 'SLC25A37', 'score': 19.15}, {'connected_gene': 'ENTPD4', 'score': 14.79}, {'connected_gene': 'ENSG00000253390', 'score': 10.67}, {'connected_gene': 'NKX3-1', 'score': 10.56}, {'connected_gene': 'RNU4-71P', 'score': 10.46}, {'connected_gene': 'ENSG00000253200', 'score': 5.06}, {'connected_gene': 'EGR3', 'score': 5.03}, {'connected_gene': 'TNFRSF10C', 'score': 1.6}, {'connected_gene': 'TNFRSF10B', 'score': 1.54}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I023544 23544085 23545844 0.65 [{'connected_gene': 'SLC25A37', 'score': 7.42}, {'connected_gene': 'TNFRSF10B', 'score': 2.58}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I023174 23174526 23178458 1.41 [{'connected_gene': 'LOC389641', 'score': 16.82}, {'connected_gene': 'CHMP7', 'score': 12.27}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.82}, {'connected_gene': 'R3HCC1', 'score': 11.27}, {'connected_gene': 'TNFRSF10C', 'score': 11.22}, {'connected_gene': 'TNFRSF10D', 'score': 2.76}, {'connected_gene': 'TNFRSF10B', 'score': 1.91}, {'connected_gene': 'TNFRSF10A-AS1', 'score': 0.39}]
chr8 GH08I023063 23063262 23066178 1.01 [{'connected_gene': 'RHOBTB2', 'score': 11.43}, {'connected_gene': 'TNFRSF10B', 'score': 9.43}, {'connected_gene': 'TNFRSF10C', 'score': 6.03}, {'connected_gene': 'LOC286059', 'score': 0.77}, {'connected_gene': 'PIR57431', 'score': 0.28}]
chr8 GH08I022979 22979911 22991891 2.07 [{'connected_gene': 'RHOBTB2', 'score': 557.91}, {'connected_gene': 'ENSG00000253200', 'score': 25.69}, {'connected_gene': 'FAM160B2', 'score': 17.94}, {'connected_gene': 'C8orf58', 'score': 16.14}, {'connected_gene': 'ENTPD4', 'score': 13.87}, {'connected_gene': 'LOC107986927', 'score': 12.68}, {'connected_gene': 'BIN3', 'score': 11.42}, {'connected_gene': 'LOXL2', 'score': 10.7}, {'connected_gene': 'CHMP7', 'score': 10.51}, {'connected_gene': 'BMP1', 'score': 10.49}, {'connected_gene': 'LOC101929237', 'score': 10.4}, {'connected_gene': 'PEBP4', 'score': 6.24}, {'connected_gene': 'TNFRSF10B', 'score': 1.69}, {'connected_gene': 'RN7SL303P', 'score': 0.44}]
chr8 GH08I023012 23012106 23015233 1 [{'connected_gene': 'RHOBTB2', 'score': 11.49}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'GC08P023010', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'PIR51638', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023015 23015237 23015301 0.6 [{'connected_gene': 'RHOBTB2', 'score': 11.49}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'LOC107986927', 'score': 0.77}, {'connected_gene': 'PIR51638', 'score': 0.77}, {'connected_gene': 'GC08P023010', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.23}]
chr8 GH08I022700 22700275 22706271 1.66 [{'connected_gene': 'XPO7', 'score': 15.37}, {'connected_gene': 'BIN3', 'score': 14.21}, {'connected_gene': 'CCAR2', 'score': 13.8}, {'connected_gene': 'ENSG00000253200', 'score': 10.43}, {'connected_gene': 'NPM2', 'score': 4.67}, {'connected_gene': 'TNFRSF10C', 'score': 3.88}, {'connected_gene': 'PDLIM2', 'score': 3.17}, {'connected_gene': 'TNFRSF10B', 'score': 2.66}, {'connected_gene': 'PPP3CC', 'score': 1.91}, {'connected_gene': 'EGR3', 'score': 1.87}, {'connected_gene': 'GC08P022700', 'score': 0.77}, {'connected_gene': 'ENSG00000253125', 'score': 0.39}, {'connected_gene': 'GC08M022705', 'score': 0.23}]
chr8 GH08I023041 23041982 23042939 0.51 [{'connected_gene': 'PEBP4', 'score': 11.73}, {'connected_gene': 'RHOBTB2', 'score': 11.69}, {'connected_gene': 'PIR57431', 'score': 0.39}, {'connected_gene': 'TNFRSF10B', 'score': 0.31}, {'connected_gene': 'LOC286059', 'score': 0.31}]
chr8 GH08I023017 23017204 23024008 1.69 [{'connected_gene': 'LOC107986927', 'score': 557.5}, {'connected_gene': 'PIR53150', 'score': 550.77}, {'connected_gene': 'PIR51638', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 11.47}, {'connected_gene': 'LOC101929237', 'score': 10.06}, {'connected_gene': 'TNFRSF10B', 'score': 6.13}]
chr8 GH08I023007 23007230 23007475 0.2 [{'connected_gene': 'LOC101929237', 'score': 10.09}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.77}, {'connected_gene': 'GC08P023010', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.21}]
chr8 GH08I023071 23071984 23073357 1.12 [{'connected_gene': 'ENSG00000253616', 'score': 563.42}, {'connected_gene': 'CHMP7', 'score': 11.63}, {'connected_gene': 'TNFRSF10B', 'score': 0.77}, {'connected_gene': 'LOC286059', 'score': 0.77}]
chr8 GH08I023073 23073601 23076200 1.48 [{'connected_gene': 'ENSG00000253616', 'score': 574.46}, {'connected_gene': 'ENSG00000253200', 'score': 43.22}, {'connected_gene': 'C8orf58', 'score': 34.34}, {'connected_gene': 'FAM160B2', 'score': 29.15}, {'connected_gene': 'LOC107986927', 'score': 22.99}, {'connected_gene': 'CHMP7', 'score': 22.71}, {'connected_gene': 'BMP1', 'score': 22.55}, {'connected_gene': 'LOXL2', 'score': 13.84}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'CCAR2', 'score': 12.74}, {'connected_gene': 'SORBS3', 'score': 12.64}, {'connected_gene': 'ENTPD4', 'score': 10.23}, {'connected_gene': 'POLR3D', 'score': 10.19}, {'connected_gene': 'TNFRSF10C', 'score': 9.52}, {'connected_gene': 'TNFRSF10B', 'score': 5.45}, {'connected_gene': 'LOC286059', 'score': 0.44}, {'connected_gene': 'LOC254896', 'score': 0.44}]
chr8 GH08I023550 23550224 23555880 1.52 [{'connected_gene': 'GC08M023551', 'score': 550.77}, {'connected_gene': 'SLC25A37', 'score': 20.35}, {'connected_gene': 'ENTPD4', 'score': 14.33}, {'connected_gene': 'ENSG00000253390', 'score': 10.88}, {'connected_gene': 'EGR3', 'score': 5.48}, {'connected_gene': 'ENSG00000253200', 'score': 4.43}, {'connected_gene': 'TNFRSF10B', 'score': 1.32}]
chr8 GH08I023546 23546675 23549197 1.68 [{'connected_gene': 'ENSG00000253200', 'score': 15.09}, {'connected_gene': 'LOXL2', 'score': 13.92}, {'connected_gene': 'C8orf58', 'score': 9.84}, {'connected_gene': 'SLC25A37', 'score': 8.86}, {'connected_gene': 'ENTPD4', 'score': 5.39}, {'connected_gene': 'TNFRSF10B', 'score': 2.51}, {'connected_gene': 'TNFRSF10C', 'score': 1.82}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I022972 22972802 22976082 1.53 [{'connected_gene': 'GC08M022975', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 5.61}, {'connected_gene': 'TNFRSF10B', 'score': 4.97}, {'connected_gene': 'NKX3-1', 'score': 4.79}, {'connected_gene': 'LOC107986927', 'score': 4.69}, {'connected_gene': 'CHMP7', 'score': 1.54}, {'connected_gene': 'GC08M022970', 'score': 0.77}, {'connected_gene': 'PEBP4', 'score': 0.31}]
chr8 GH08I023011 23011454 23011629 0.2 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 11.52}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'PIR51638', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023009 23009546 23009900 0.42 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'LOC101929237', 'score': 10.08}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023008 23008375 23008977 0.58 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'LOC101929237', 'score': 10.08}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.21}]

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