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
ENST00000393295 [[128846257, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128880136]] [[128848923, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
ENST00000471497 [[128848216, 128849031], [128849392, 128849479], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875732]] None
ENST00000273541 [[128848216, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128855973, 128856039], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879891]] [[128848923, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128855973, 128856039], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
ENST00000471306 [[128848633, 128849031], [128849392, 128849546]] None
ENST00000496163 [[128848721, 128849031], [128849392, 128849479], [128853674, 128853797], [128859210, 128859328], [128864603, 128864717]] [[128849026, 128849031], [128849392, 128849479], [128853674, 128853797], [128859210, 128859328], [128864603, 128864717]]
ENST00000393292 [[128848859, 128849031], [128849392, 128849479], [128852916, 128853038], [128853670, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879880]] [[128849026, 128849031], [128849392, 128849479], [128852916, 128853038], [128853670, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
ENST00000485703 [[128852917, 128853038], [128853674, 128853797], [128859210, 128859328], [128862910, 128863032], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879871]] [[128862957, 128863032], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
NM_001199469 [[128846258, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128855973, 128856039], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128880073]] [[128848923, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128855973, 128856039], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
NM_020701 [[128846258, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128880073]] [[128848923, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
Promoter
Chrom Start End Description
chr3 128879875 128879937 CAGE_peak_1_at_ISY1-RAB43_5end,CAGE_peak_1_at_ISY1_5end
chr3 128879938 128879950 CAGE_peak_2_at_ISY1-RAB43_5end,CAGE_peak_2_at_ISY1_5end
chr3 128880125 128880155 CAGE_peak_3_at_ISY1-RAB43_5end,CAGE_peak_3_at_ISY1_5end
chr3 128880162 128880179 CAGE_peak_4_at_ISY1-RAB43_5end,CAGE_peak_4_at_ISY1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129428 129428118 129429957 1.9 [{'connected_gene': 'EFCAB12', 'score': 557.34}, {'connected_gene': 'ENSG00000244932', 'score': 17.99}, {'connected_gene': 'RPL32P3', 'score': 14.82}, {'connected_gene': 'ISY1', 'score': 14.55}, {'connected_gene': 'H1FX', 'score': 13.5}, {'connected_gene': 'MBD4', 'score': 12.95}, {'connected_gene': 'COPG1', 'score': 12.16}, {'connected_gene': 'RPS15AP16', 'score': 11.46}, {'connected_gene': 'IFT122', 'score': 8.7}]
chr3 GH03I129309 129309521 129318279 2.27 [{'connected_gene': 'H1FX', 'score': 562.07}, {'connected_gene': 'H1FX-AS1', 'score': 555.41}, {'connected_gene': 'HMCES', 'score': 29.36}, {'connected_gene': 'ISY1', 'score': 24.06}, {'connected_gene': 'RPL32P3', 'score': 12.69}, {'connected_gene': 'ENSG00000244932', 'score': 10.02}, {'connected_gene': 'MBD4', 'score': 4.49}, {'connected_gene': 'ENSG00000261159', 'score': 4.04}, {'connected_gene': 'GC03M129283', 'score': 0.39}]
chr3 GH03I129207 129207019 129208016 0.49 [{'connected_gene': 'CNBP', 'score': 12.87}, {'connected_gene': 'ISY1', 'score': 11.57}, {'connected_gene': 'KIAA1257', 'score': 10.72}, {'connected_gene': 'EFCC1', 'score': 10.71}, {'connected_gene': 'GP9', 'score': 10.54}, {'connected_gene': 'POU5F1P6', 'score': 4.02}, {'connected_gene': 'GC03M129220', 'score': 0.39}, {'connected_gene': 'LOC105374101', 'score': 0.34}]
chr3 GH03I129251 129251729 129255465 0.56 [{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3 GH03I129259 129259778 129259927 0.57 [{'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'ISY1', 'score': 11.15}, {'connected_gene': 'COPG1', 'score': 0.39}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129050 129050974 129055633 1.39 [{'connected_gene': 'KIAA1257', 'score': 11.3}, {'connected_gene': 'ISY1', 'score': 11.26}, {'connected_gene': 'EFCC1', 'score': 11.22}, {'connected_gene': 'RAB43', 'score': 11.11}, {'connected_gene': 'CNBP', 'score': 10.67}, {'connected_gene': 'RAB7A', 'score': 7.22}, {'connected_gene': 'RPL32P3', 'score': 5.4}, {'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'LOC100130760', 'score': 0.44}]
chr3 GH03I129195 129195202 129198199 1.22 [{'connected_gene': 'ISY1', 'score': 16.12}, {'connected_gene': 'RAB43', 'score': 10.39}, {'connected_gene': 'HMCES', 'score': 5.68}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'EFCC1', 'score': 4.25}, {'connected_gene': 'LOC105374101', 'score': 0.39}, {'connected_gene': 'GC03M129220', 'score': 0.34}]
chr3 GH03I129159 129159376 129163731 2.29 [{'connected_gene': 'ISY1', 'score': 562.13}, {'connected_gene': 'ISY1-RAB43', 'score': 550.77}, {'connected_gene': 'RPL32P3', 'score': 22.43}, {'connected_gene': 'ENSG00000244932', 'score': 17.31}, {'connected_gene': 'H1FX-AS1', 'score': 12.57}, {'connected_gene': 'CNBP', 'score': 10.4}, {'connected_gene': 'H1FX', 'score': 9.88}, {'connected_gene': 'ENSG00000273437', 'score': 0.77}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'GC03P129797', 'score': 0.37}]
chr3 GH03I129277 129277667 129280720 1.98 [{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3 GH03I129256 129256618 129258851 0.57 [{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129303 129303807 129306722 1.15 [{'connected_gene': 'HMCES', 'score': 29.4}, {'connected_gene': 'ISY1', 'score': 10.36}, {'connected_gene': 'LOC100421508', 'score': 5.1}, {'connected_gene': 'GC03M129283', 'score': 0.77}, {'connected_gene': 'H1FX-AS1', 'score': 0.39}]
chr3 GH03I129116 129116131 129124027 2.68 [{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr3 GH03I128877 128877729 128881374 2.11 [{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3 GH03I129013 129013507 129018830 1.3 [{'connected_gene': 'GP9', 'score': 11.42}, {'connected_gene': 'RAB43', 'score': 11.14}, {'connected_gene': 'ISY1', 'score': 10.87}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RAB7A', 'score': 4.55}, {'connected_gene': 'LOC653712', 'score': 4.05}, {'connected_gene': 'PIR62024', 'score': 0.44}, {'connected_gene': 'EFCC1', 'score': 0.39}, {'connected_gene': 'KIAA1257', 'score': 0.39}]
chr3 GH03I129248 129248298 129250875 2.18 [{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3 GH03I129398 129398174 129400372 1.54 [{'connected_gene': 'RPL32P3', 'score': 576.33}, {'connected_gene': 'GC03M129400', 'score': 550.77}, {'connected_gene': 'SNORA7B', 'score': 550.77}, {'connected_gene': 'IFT122', 'score': 20.22}, {'connected_gene': 'ISY1', 'score': 13.76}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'MBD4', 'score': 11.35}, {'connected_gene': 'RHO', 'score': 10.27}, {'connected_gene': 'ENSG00000244932', 'score': 10.19}, {'connected_gene': 'CNBP', 'score': 10.13}, {'connected_gene': 'LINC02021', 'score': 4.83}, {'connected_gene': 'EFCAB12', 'score': 4.83}, {'connected_gene': 'GC03P129796', 'score': 0.34}]
chr3 GH03I129447 129447206 129451240 1.5 [{'connected_gene': 'RPL32P3', 'score': 43.43}, {'connected_gene': 'ISY1', 'score': 26.01}, {'connected_gene': 'ENSG00000244932', 'score': 21.5}, {'connected_gene': 'H1FX', 'score': 20.54}, {'connected_gene': 'RHO', 'score': 11.03}, {'connected_gene': 'PLXND1', 'score': 10.56}, {'connected_gene': 'IFT122', 'score': 9.84}, {'connected_gene': 'ACAD9', 'score': 4.06}, {'connected_gene': 'MBD4', 'score': 0.44}, {'connected_gene': 'GC03P129770', 'score': 0.29}, {'connected_gene': 'PIR50923', 'score': 0.29}, {'connected_gene': 'GC03P129766', 'score': 0.29}]
chr3 GH03I129178 129178341 129186747 2.27 [{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3 GH03I128481 128481848 128493649 2.24 [{'connected_gene': 'GATA2-AS1', 'score': 558.69}, {'connected_gene': 'GATA2', 'score': 550.44}, {'connected_gene': 'RPL32P3', 'score': 23.49}, {'connected_gene': 'ISY1', 'score': 13.72}, {'connected_gene': 'TPRA1', 'score': 12.95}, {'connected_gene': 'DNAJB8', 'score': 12.61}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.97}, {'connected_gene': 'H1FX', 'score': 11.32}, {'connected_gene': 'H1FX-AS1', 'score': 10.93}, {'connected_gene': 'IFT122', 'score': 10.85}, {'connected_gene': 'ENSG00000244932', 'score': 9.85}, {'connected_gene': 'TMED10P2', 'score': 6.26}, {'connected_gene': 'POU5F1P6', 'score': 4.39}]
chr3 GH03I129063 129063805 129067720 0.46 [{'connected_gene': 'PIR45850', 'score': 550.77}, {'connected_gene': 'GC03M129069', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 11.12}, {'connected_gene': 'EFCC1', 'score': 11.06}, {'connected_gene': 'ISY1', 'score': 4.95}, {'connected_gene': 'RPL32P3', 'score': 4.22}, {'connected_gene': 'GP9', 'score': 0.39}]
chr3 GH03I129127 129127435 129128350 0.31 [{'connected_gene': 'PIR52955', 'score': 550.77}, {'connected_gene': 'PIR40814', 'score': 550.77}, {'connected_gene': 'ISY1', 'score': 12.35}, {'connected_gene': 'GP9', 'score': 10.96}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.29}]
chr3 GH03I128756 128756429 128756827 0.46 [{'connected_gene': 'ENSG00000207130', 'score': 12.24}, {'connected_gene': 'ACAD9', 'score': 8.37}, {'connected_gene': 'RAB7A', 'score': 7.24}, {'connected_gene': 'ISY1', 'score': 1.5}, {'connected_gene': 'CNBP', 'score': 1.19}, {'connected_gene': 'PIR62870', 'score': 0.77}, {'connected_gene': 'MARK2P8', 'score': 0.44}]
chr3 GH03I129907 129907921 129909147 0.79 [{'connected_gene': 'ENSG00000244932', 'score': 17.77}, {'connected_gene': 'RPL32P3', 'score': 14.54}, {'connected_gene': 'ISY1', 'score': 14.52}, {'connected_gene': 'PIK3R4', 'score': 14.26}, {'connected_gene': 'H1FX', 'score': 13.39}, {'connected_gene': 'MBD4', 'score': 12.6}, {'connected_gene': 'COPG1', 'score': 12.09}, {'connected_gene': 'ENSG00000203644', 'score': 4.22}, {'connected_gene': 'TMCC1-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000250643', 'score': 0.21}, {'connected_gene': 'GC03P129794', 'score': 0.06}]
chr3 GH03I129223 129223795 129235799 1.75 [{'connected_gene': 'GC03M129230', 'score': 550.77}, {'connected_gene': 'LOC105374102', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 24.24}, {'connected_gene': 'RAB43', 'score': 23.67}, {'connected_gene': 'CNBP', 'score': 17.84}, {'connected_gene': 'GP9', 'score': 17.81}, {'connected_gene': 'ISY1', 'score': 15.55}, {'connected_gene': 'HMCES', 'score': 14.67}, {'connected_gene': 'MBD4', 'score': 13.58}, {'connected_gene': 'RPL32P3', 'score': 5.23}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'POU5F1P6', 'score': 4.3}, {'connected_gene': 'RAB7A', 'score': 4.03}, {'connected_gene': 'RPS27P12', 'score': 0.39}]

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