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
ENST00000572262 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
ENST00000576478 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534906, 7535066], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534906, 7535066], [7536521, 7536670]]
ENST00000575314 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
ENST00000574539 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
ENST00000570547 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536670]]
ENST00000572182 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7536521, 7536551]]
ENST00000576728 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536521, 7536672]] [[7533796, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
ENST00000575729 [[7531286, 7531469], [7533733, 7533825], [7533997, 7534187], [7534517, 7534578]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534578]]
ENST00000340624 [[7531286, 7531469], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536635]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
ENST00000441599 [[7533452, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536700]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536670]]
ENST00000380450 [[7533459, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536695]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
ENST00000570353 [[7533469, 7533601], [7533733, 7533825], [7533997, 7534149], [7534571, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536690]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534149], [7534571, 7534679], [7534906, 7534989]]
ENST00000575903 [[7533469, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534960, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536690]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534960, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
ENST00000416273 [[7533469, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536690]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
ENST00000570527 [[7533469, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536690]] [[7533490, 7533664]]
ENST00000575618 [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7536521, 7536672]] [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7536521, 7536551]]
ENST00000576152 [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534906, 7535066], [7536521, 7536672]] [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534906, 7535066], [7536521, 7536670]]
ENST00000571153 [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536521, 7536672]] [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
ENST00000576830 [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536672]] [[7533571, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536670]]
ENST00000576747 [[7534626, 7534679], [7534906, 7535375]] None
NM_001289114 [[7517381, 7517429], [7533735, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536701]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
NM_001289115 [[7531286, 7531469], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536701]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
NM_001289113 [[7531286, 7531469], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536701]] [[7533796, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
NM_001289116 [[7533411, 7533601], [7533733, 7533825], [7533997, 7534149], [7534571, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536701]] [[7534050, 7534149], [7534571, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
NM_001146279 [[7533411, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534960, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536701]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534960, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
NM_001146281 [[7533411, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536701]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7536521, 7536670]]
NM_001146280 [[7533411, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536701]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536521, 7536551]]
NM_001040 [[7533411, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536701]] [[7533490, 7533601], [7533733, 7533825], [7533997, 7534187], [7534517, 7534679], [7534906, 7535066], [7535196, 7535333], [7536069, 7536277], [7536521, 7536670]]
Promoter
Chrom Start End Description
chr17 7531281 7531320 CAGE_peak_3_at_SHBG_5end
chr17 7533439 7533477 CAGE_peak_1_at_SHBG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007571 7571056 7585261 2.56 [{'connected_gene': 'SNORD10', 'score': 599.71}, {'connected_gene': 'EIF4A1', 'score': 584.56}, {'connected_gene': 'SNORA67', 'score': 550.77}, {'connected_gene': 'PIR46508', 'score': 550.77}, {'connected_gene': 'CD68', 'score': 550.77}, {'connected_gene': 'GC17P007742', 'score': 550.77}, {'connected_gene': 'GC17P007737', 'score': 550.77}, {'connected_gene': 'GC17P007739', 'score': 550.77}, {'connected_gene': 'GC17P007735', 'score': 550.77}, {'connected_gene': 'MPDU1', 'score': 550.44}, {'connected_gene': 'DVL2', 'score': 90.08}, {'connected_gene': 'PFAS', 'score': 62.14}, {'connected_gene': 'CTC1', 'score': 55.51}, {'connected_gene': 'SNORA48', 'score': 45.17}, {'connected_gene': 'CNTROB', 'score': 41.8}, {'connected_gene': 'POLR2A', 'score': 40.65}, {'connected_gene': 'ENSG00000262089', 'score': 34.89}, {'connected_gene': 'PLSCR3', 'score': 32.41}, {'connected_gene': 'PER1', 'score': 31.89}, {'connected_gene': 'ENSG00000265749', 'score': 30.9}, {'connected_gene': 'KDM6B', 'score': 26.87}, {'connected_gene': 'SAT2', 'score': 25.39}, {'connected_gene': 'GPS2', 'score': 24.16}, {'connected_gene': 'WRAP53', 'score': 24.12}, {'connected_gene': 'KCTD11', 'score': 21.1}, {'connected_gene': 'TP53', 'score': 20.21}, {'connected_gene': 'SENP3', 'score': 19.8}, {'connected_gene': 'MIR324', 'score': 19.24}, {'connected_gene': 'LOC100996842', 'score': 18.62}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'SHBG', 'score': 10.33}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.7}, {'connected_gene': 'CHRNB1', 'score': 9.4}, {'connected_gene': 'TNFSF12', 'score': 9.29}, {'connected_gene': 'ATP1B2', 'score': 7.18}, {'connected_gene': 'TMEM102', 'score': 6.07}, {'connected_gene': 'TNFSF13', 'score': 5.72}, {'connected_gene': 'TMEM107', 'score': 4.84}, {'connected_gene': 'PIR59849', 'score': 0.77}, {'connected_gene': 'GC17P007729', 'score': 0.77}, {'connected_gene': 'PIR46619', 'score': 0.44}, {'connected_gene': 'GC17P007743', 'score': 0.44}, {'connected_gene': 'ENSG00000264772', 'score': 0.44}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.37}]
chr17 GH17I007613 7613113 7616010 1.99 [{'connected_gene': 'SHBG', 'score': 550.77}, {'connected_gene': 'FXR2', 'score': 550.77}, {'connected_gene': 'TNFSF12', 'score': 18.76}, {'connected_gene': 'SNORD10', 'score': 14.27}, {'connected_gene': 'SOX15', 'score': 12.97}, {'connected_gene': 'LOC100996842', 'score': 12.95}, {'connected_gene': 'MPDU1', 'score': 12.93}, {'connected_gene': 'DVL2', 'score': 12.79}, {'connected_gene': 'ATP1B2', 'score': 12.01}, {'connected_gene': 'SNORA48', 'score': 11.94}, {'connected_gene': 'PFAS', 'score': 11.88}, {'connected_gene': 'WRAP53', 'score': 11.65}, {'connected_gene': 'TP53', 'score': 11.65}, {'connected_gene': 'CTC1', 'score': 11.27}, {'connected_gene': 'EFNB3', 'score': 10.98}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.83}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'PER1', 'score': 10.19}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.87}]
chr17 GH17I007368 7368037 7368134 0.22 [{'connected_gene': 'SLC35G6', 'score': 4.23}, {'connected_gene': 'WRAP53', 'score': 1.74}, {'connected_gene': 'SHBG', 'score': 1.31}, {'connected_gene': 'GC17P007361', 'score': 0.44}, {'connected_gene': 'TNK1', 'score': 0.39}]
chr17 GH17I007233 7233000 7244317 2.37 [{'connected_gene': 'DVL2', 'score': 731.83}, {'connected_gene': 'GABARAP', 'score': 557.49}, {'connected_gene': 'PHF23', 'score': 550.77}, {'connected_gene': 'CNTROB', 'score': 75.44}, {'connected_gene': 'SNORD10', 'score': 70.84}, {'connected_gene': 'NEURL4', 'score': 58.04}, {'connected_gene': 'SNORA48', 'score': 55.1}, {'connected_gene': 'WRAP53', 'score': 49.13}, {'connected_gene': 'POLR2A', 'score': 48.77}, {'connected_gene': 'KCTD11', 'score': 47.26}, {'connected_gene': 'SENP3', 'score': 47.1}, {'connected_gene': 'CYB5D1', 'score': 43.38}, {'connected_gene': 'NLGN2', 'score': 40.31}, {'connected_gene': 'PLSCR3', 'score': 39.86}, {'connected_gene': 'KIAA0753', 'score': 38.78}, {'connected_gene': 'ELP5', 'score': 37.78}, {'connected_gene': 'LOC100996842', 'score': 34.14}, {'connected_gene': 'ENSG00000262089', 'score': 32.16}, {'connected_gene': 'MIR324', 'score': 32.05}, {'connected_gene': 'EIF4A1', 'score': 31.26}, {'connected_gene': 'PER1', 'score': 30.0}, {'connected_gene': 'ZBTB4', 'score': 29.31}, {'connected_gene': 'YBX2', 'score': 25.24}, {'connected_gene': 'ATP1B2', 'score': 23.41}, {'connected_gene': 'CLDN7', 'score': 23.05}, {'connected_gene': 'KDM6B', 'score': 21.99}, {'connected_gene': 'MIR497HG', 'score': 20.37}, {'connected_gene': 'DLG4', 'score': 13.65}, {'connected_gene': 'VAMP2', 'score': 13.12}, {'connected_gene': 'TP53', 'score': 10.95}, {'connected_gene': 'HES7', 'score': 10.17}, {'connected_gene': 'SHBG', 'score': 10.11}, {'connected_gene': 'SCARNA21', 'score': 10.09}, {'connected_gene': 'CHD3', 'score': 9.88}, {'connected_gene': 'ALOX12-AS1', 'score': 9.84}, {'connected_gene': 'SLC2A4', 'score': 4.74}, {'connected_gene': 'ENSG00000279641', 'score': 0.77}, {'connected_gene': 'ENSG00000262526', 'score': 0.44}, {'connected_gene': 'GC17M007238', 'score': 0.44}, {'connected_gene': 'CTDNEP1', 'score': 0.39}]
chr17 GH17I007625 7625302 7631144 2.01 [{'connected_gene': 'SAT2', 'score': 576.35}, {'connected_gene': 'GC17P007740', 'score': 550.77}, {'connected_gene': 'GC17P007715', 'score': 550.77}, {'connected_gene': 'GC17P007716', 'score': 550.77}, {'connected_gene': 'SHBG', 'score': 550.39}, {'connected_gene': 'CHRNB1', 'score': 14.78}, {'connected_gene': 'DVL2', 'score': 12.53}, {'connected_gene': 'WRAP53', 'score': 11.68}, {'connected_gene': 'TP53', 'score': 11.68}, {'connected_gene': 'EFNB3', 'score': 11.0}, {'connected_gene': 'SENP3', 'score': 10.79}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'TNFSF12', 'score': 9.24}, {'connected_gene': 'FGF11', 'score': 5.93}, {'connected_gene': 'TMEM107', 'score': 4.9}]
chr17 GH17I008185 8185400 8191268 2.35 [{'connected_gene': 'TRT-AGT1-1', 'score': 550.77}, {'connected_gene': 'PIR40201', 'score': 550.77}, {'connected_gene': 'BORCS6', 'score': 550.77}, {'connected_gene': 'MIR4521', 'score': 550.77}, {'connected_gene': 'PIR38980', 'score': 550.77}, {'connected_gene': 'TRS-GCT4-3', 'score': 550.77}, {'connected_gene': 'GC17M008515', 'score': 550.77}, {'connected_gene': 'ENSG00000279152', 'score': 550.77}, {'connected_gene': 'PIR38375', 'score': 550.77}, {'connected_gene': 'TRI-AAT5-5', 'score': 550.77}, {'connected_gene': 'PIR49700', 'score': 550.77}, {'connected_gene': 'GC17M008516', 'score': 550.77}, {'connected_gene': 'TRW-CCA3-3', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 113.24}, {'connected_gene': 'PFAS', 'score': 101.98}, {'connected_gene': 'WRAP53', 'score': 76.31}, {'connected_gene': 'CNTROB', 'score': 74.11}, {'connected_gene': 'CTC1', 'score': 56.83}, {'connected_gene': 'POLR2A', 'score': 54.0}, {'connected_gene': 'ENSG00000265749', 'score': 48.89}, {'connected_gene': 'NEURL4', 'score': 46.36}, {'connected_gene': 'SENP3', 'score': 40.77}, {'connected_gene': 'SNORD10', 'score': 38.11}, {'connected_gene': 'SNORA48', 'score': 31.17}, {'connected_gene': 'KDM6B', 'score': 29.65}, {'connected_gene': 'LOC100996842', 'score': 29.47}, {'connected_gene': 'NLGN2', 'score': 28.82}, {'connected_gene': 'MIR324', 'score': 28.76}, {'connected_gene': 'RPL26', 'score': 28.67}, {'connected_gene': 'ATP1B2', 'score': 23.4}, {'connected_gene': 'CYB5D1', 'score': 23.15}, {'connected_gene': 'EIF4A1', 'score': 20.86}, {'connected_gene': 'PER1', 'score': 19.94}, {'connected_gene': 'PLSCR3', 'score': 19.87}, {'connected_gene': 'VAMP2', 'score': 17.0}, {'connected_gene': 'ELP5', 'score': 15.33}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'AURKB', 'score': 12.64}, {'connected_gene': 'LINC00324', 'score': 12.22}, {'connected_gene': 'ENSG00000269947', 'score': 11.21}, {'connected_gene': 'KCNAB3', 'score': 10.61}, {'connected_gene': 'KCTD11', 'score': 10.43}, {'connected_gene': 'GPS2', 'score': 10.14}, {'connected_gene': 'SLC25A35', 'score': 10.11}, {'connected_gene': 'SHBG', 'score': 10.08}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}]
chr17 GH17I007633 7632800 7633000 0.66 [{'connected_gene': 'GC17P007715', 'score': 0.77}, {'connected_gene': 'ATP1B2', 'score': 0.39}, {'connected_gene': 'SHBG', 'score': 0.37}]
chr17 GH17I007634 7632103 7632369 0.59 [{'connected_gene': 'GC17P007715', 'score': 0.77}, {'connected_gene': 'ATP1B2', 'score': 0.39}, {'connected_gene': 'SHBG', 'score': 0.37}]
chr17 GH17I007632 7632543 7632752 0.72 [{'connected_gene': 'GC17P007715', 'score': 0.77}, {'connected_gene': 'ATP1B2', 'score': 0.39}, {'connected_gene': 'SHBG', 'score': 0.37}]
chr17 GH17I008225 8225002 8227851 1.45 [{'connected_gene': 'GC17M008521', 'score': 550.77}, {'connected_gene': 'PIR60258', 'score': 550.77}, {'connected_gene': 'GC17M008510', 'score': 550.77}, {'connected_gene': 'GC17M008519', 'score': 550.77}, {'connected_gene': 'TRS-AGA2-6', 'score': 550.77}, {'connected_gene': 'TRT-AGT1-2', 'score': 550.77}, {'connected_gene': 'TRI-AAT4-1', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 54.69}, {'connected_gene': 'PFAS', 'score': 45.68}, {'connected_gene': 'NEURL4', 'score': 36.83}, {'connected_gene': 'SENP3', 'score': 29.82}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'CNTROB', 'score': 19.59}, {'connected_gene': 'CTC1', 'score': 17.47}, {'connected_gene': 'SNORD10', 'score': 16.69}, {'connected_gene': 'SNORA48', 'score': 13.66}, {'connected_gene': 'ENSG00000265749', 'score': 12.23}, {'connected_gene': 'CYB5D1', 'score': 11.87}, {'connected_gene': 'ENSG00000269947', 'score': 11.27}, {'connected_gene': 'RPL26', 'score': 11.27}, {'connected_gene': 'PLSCR3', 'score': 11.23}, {'connected_gene': 'KDM6B', 'score': 11.06}, {'connected_gene': 'WRAP53', 'score': 10.66}, {'connected_gene': 'KCNAB3', 'score': 10.61}, {'connected_gene': 'PER1', 'score': 10.46}, {'connected_gene': 'VAMP2', 'score': 10.18}, {'connected_gene': 'EIF4A1', 'score': 10.14}, {'connected_gene': 'SHBG', 'score': 10.08}, {'connected_gene': 'ZBTB4', 'score': 9.99}]

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