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
ENST00000595557 [[51124563, 51124685], [51128102, 51128547]] [[51128307, 51128547]]
ENST00000338916 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51141302]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
ENST00000600079 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140683], [51142281, 51142419], [51143046, 51143075]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
ENST00000593901 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51141047], [51142281, 51142419], [51143046, 51143084]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
ENST00000544769 [[51125235, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51141047], [51142281, 51142419], [51171609, 51171651]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
ENST00000595117 [[51125676, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129391]] None
ENST00000598997 [[51135927, 51136068], [51140520, 51140683], [51142281, 51142563]] [[51135927, 51136068], [51140520, 51140668]]
NM_032298 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51141302]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
NM_001160328 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51141047], [51142281, 51142419], [51143046, 51143092]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
NM_001160329 [[51125233, 51125738], [51125943, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140683], [51142281, 51142419], [51143046, 51143092]] [[51125946, 51126012], [51128418, 51128551], [51128649, 51128821], [51129153, 51129274], [51132550, 51132769], [51133040, 51133428], [51135542, 51136068], [51140520, 51140668]]
Promoter
Chrom Start End Description
chr19 51141196 51141207 CAGE_peak_2_at_SYT3_5end
chr19 51143096 51143143 CAGE_peak_1_at_SYT3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050566 50566204 50566501 0.94 [{'connected_gene': 'LRRC4B', 'score': 553.1}, {'connected_gene': 'SYT3', 'score': 5.06}, {'connected_gene': 'KLK6', 'score': 2.52}, {'connected_gene': 'KCNC3', 'score': 1.28}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}]
chr19 GH19I050657 50657515 50660407 1.58 [{'connected_gene': 'SYT3', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 70.78}, {'connected_gene': 'NUP62', 'score': 68.69}, {'connected_gene': 'PTOV1-AS2', 'score': 50.68}, {'connected_gene': 'IRF3', 'score': 46.35}, {'connected_gene': 'ZNF175', 'score': 40.29}, {'connected_gene': 'PNKP', 'score': 31.22}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'ZNF473', 'score': 22.26}, {'connected_gene': 'CTU1', 'score': 19.81}, {'connected_gene': 'C19orf81', 'score': 16.15}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'ENSG00000267808', 'score': 13.8}, {'connected_gene': 'VRK3', 'score': 12.22}, {'connected_gene': 'C19orf48', 'score': 12.18}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'PIR41386', 'score': 0.26}, {'connected_gene': 'SHANK1', 'score': 0.21}]
chr19 GH19I050509 50508805 50509125 0.55 [{'connected_gene': 'SYT3', 'score': 1.6}, {'connected_gene': 'SHANK1', 'score': 1.29}, {'connected_gene': 'KLK6', 'score': 1.28}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19 GH19I050640 50639573 50640253 1.82 [{'connected_gene': 'SYT3', 'score': 556.34}, {'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}]
chr19 GH19I050637 50637935 50637994 0.73 [{'connected_gene': 'SYT3', 'score': 555.45}, {'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}]
chr19 GH19I050835 50835401 50837092 1.65 [{'connected_gene': 'KLK15', 'score': 550.77}, {'connected_gene': 'ZNF175', 'score': 20.6}, {'connected_gene': 'NUP62', 'score': 13.06}, {'connected_gene': 'PTOV1-AS2', 'score': 12.64}, {'connected_gene': 'LINC01869', 'score': 11.85}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.84}, {'connected_gene': 'KLK2', 'score': 11.32}, {'connected_gene': 'SNORD88A', 'score': 11.11}, {'connected_gene': 'SNORD88B', 'score': 11.11}, {'connected_gene': 'PNKP', 'score': 10.37}, {'connected_gene': 'KLK3', 'score': 9.98}, {'connected_gene': 'POLD1', 'score': 9.79}, {'connected_gene': 'SYT3', 'score': 2.85}, {'connected_gene': 'LRRC4B', 'score': 2.49}, {'connected_gene': 'KLK14', 'score': 1.65}, {'connected_gene': 'IGLON5', 'score': 1.15}, {'connected_gene': 'LOC105372441', 'score': 0.44}]
chr19 GH19I050695 50695166 50695581 0.76 [{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19 GH19I050507 50507027 50507261 0.51 [{'connected_gene': 'ASPDH', 'score': 6.17}, {'connected_gene': 'KLKP1', 'score': 4.87}, {'connected_gene': 'C19orf81', 'score': 3.63}, {'connected_gene': 'KLK4', 'score': 3.47}, {'connected_gene': 'ACP4', 'score': 1.5}, {'connected_gene': 'SHANK1', 'score': 1.46}, {'connected_gene': 'SYT3', 'score': 1.27}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.37}]
chr19 GH19I050653 50653724 50653873 0.71 [{'connected_gene': 'POLD1', 'score': 14.71}, {'connected_gene': 'ZNF175', 'score': 11.6}, {'connected_gene': 'IRF3', 'score': 11.4}, {'connected_gene': 'NUP62', 'score': 10.92}, {'connected_gene': 'SIGLEC17P', 'score': 10.9}, {'connected_gene': 'SYT3', 'score': 0.77}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.34}]
chr19 GH19I050649 50649401 50650273 1.18 [{'connected_gene': 'POLD1', 'score': 46.78}, {'connected_gene': 'IRF3', 'score': 35.93}, {'connected_gene': 'NUP62', 'score': 32.09}, {'connected_gene': 'PRMT1', 'score': 28.22}, {'connected_gene': 'ENSG00000268047', 'score': 25.22}, {'connected_gene': 'SIGLEC17P', 'score': 24.1}, {'connected_gene': 'BCL2L12', 'score': 23.9}, {'connected_gene': 'PTOV1', 'score': 20.32}, {'connected_gene': 'ENSG00000267808', 'score': 19.76}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.99}, {'connected_gene': 'PTOV1-AS2', 'score': 14.75}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'ZNF473', 'score': 11.49}, {'connected_gene': 'SHANK1', 'score': 10.83}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.38}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.93}, {'connected_gene': 'ETFB', 'score': 5.11}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.37}]
chr19 GH19I050718 50718178 50719801 1.5 [{'connected_gene': 'SHANK1', 'score': 554.08}, {'connected_gene': 'CLEC11A', 'score': 15.65}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SYT3', 'score': 7.13}, {'connected_gene': 'LRRC4B', 'score': 6.14}, {'connected_gene': 'ASPDH', 'score': 4.48}, {'connected_gene': 'KCNC3', 'score': 2.99}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19 GH19I050663 50663741 50664139 0.55 [{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19 GH19I050328 50328644 50334561 2.6 [{'connected_gene': 'KCNC3', 'score': 569.55}, {'connected_gene': 'NR1H2', 'score': 552.63}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 55.03}, {'connected_gene': 'PRR12', 'score': 50.28}, {'connected_gene': 'POLD1', 'score': 38.82}, {'connected_gene': 'ENSG00000268047', 'score': 25.05}, {'connected_gene': 'PTOV1-AS2', 'score': 23.11}, {'connected_gene': 'SNORD35A', 'score': 19.83}, {'connected_gene': 'CTU1', 'score': 19.51}, {'connected_gene': 'PNKP', 'score': 18.9}, {'connected_gene': 'ZNF473', 'score': 18.27}, {'connected_gene': 'PIH1D1', 'score': 17.86}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'NAPSB', 'score': 12.46}, {'connected_gene': 'AKT1S1', 'score': 11.26}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'MED25', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'FUZ', 'score': 9.96}, {'connected_gene': 'ADM5', 'score': 9.88}, {'connected_gene': 'PRRG2', 'score': 5.14}, {'connected_gene': 'SYT3', 'score': 3.13}, {'connected_gene': 'LRRC4B', 'score': 2.1}, {'connected_gene': 'ASPDH', 'score': 1.51}, {'connected_gene': 'MYH14', 'score': 1.51}, {'connected_gene': 'IL4I1', 'score': 1.37}, {'connected_gene': 'GPR32', 'score': 1.31}, {'connected_gene': 'SHANK1', 'score': 1.21}]
chr19 GH19I050648 50648142 50648338 0.57 [{'connected_gene': 'C19orf81', 'score': 4.61}, {'connected_gene': 'KLK4', 'score': 4.16}, {'connected_gene': 'KLK14', 'score': 1.96}, {'connected_gene': 'KCNC3', 'score': 1.84}, {'connected_gene': 'SYT3', 'score': 1.65}, {'connected_gene': 'ACP4', 'score': 1.32}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
chr19 GH19I050650 50649299 50649358 0.73 [{'connected_gene': 'C19orf81', 'score': 550.37}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
chr19 GH19I050335 50335769 50336132 0.57 [{'connected_gene': 'C19orf81', 'score': 3.56}, {'connected_gene': 'KCNC3', 'score': 2.07}, {'connected_gene': 'SYT3', 'score': 1.7}, {'connected_gene': 'ACP4', 'score': 1.43}, {'connected_gene': 'NR1H2', 'score': 0.44}, {'connected_gene': 'NAPSB', 'score': 0.44}, {'connected_gene': 'LOC105372437', 'score': 0.44}]
chr19 GH19I050678 50678866 50680086 1.2 [{'connected_gene': 'NUP62', 'score': 79.99}, {'connected_gene': 'POLD1', 'score': 63.77}, {'connected_gene': 'PTOV1-AS2', 'score': 37.78}, {'connected_gene': 'ENSG00000268047', 'score': 37.62}, {'connected_gene': 'ENSG00000267808', 'score': 34.25}, {'connected_gene': 'CPT1C', 'score': 30.65}, {'connected_gene': 'ADM5', 'score': 29.14}, {'connected_gene': 'ZNF473', 'score': 19.52}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'LRRC4B', 'score': 15.94}, {'connected_gene': 'PNKP', 'score': 15.88}, {'connected_gene': 'CTU1', 'score': 13.68}, {'connected_gene': 'RPS9P4', 'score': 12.43}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'SHANK1', 'score': 10.89}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.34}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'SYT3', 'score': 0.34}, {'connected_gene': 'PIR41386', 'score': 0.34}]
chr19 GH19I050962 50962245 50962532 0.51 [{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19 GH19I050555 50555557 50557526 1.61 [{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]
chr19 GH19I050639 50639264 50639433 0.83 [{'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}, {'connected_gene': 'SYT3', 'score': 0.37}]

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