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
ENST00000583336 [[61554421, 61554704], [61555291, 61555459], [61556171, 61556259]] None
ENST00000538928 [[61554421, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560820, 61560922]] [[61554455, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560820, 61560906]]
ENST00000584529 [[61554421, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560820, 61560919], [61561209, 61561212]] None
ENST00000582678 [[61554421, 61554704], [61555291, 61555459], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61563133]] [[61554455, 61554704], [61555291, 61555459], [61557129, 61557219]]
ENST00000579462 [[61554430, 61554704], [61555291, 61555878]] None
ENST00000290866 [[61554431, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574981]] [[61554455, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574727]]
ENST00000428043 [[61554433, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573784], [61574893, 61574921]] [[61554455, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573784], [61574893, 61574921]]
ENST00000582627 [[61554842, 61555151], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558546]] [[61554902, 61555151], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558546]]
ENST00000580318 [[61554853, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557786]] [[61554902, 61555250]]
ENST00000579726 [[61561698, 61561902], [61562330, 61562733], [61563719, 61563732], [61563917, 61564076], [61564346, 61564434]] [[61561698, 61561902], [61562330, 61562485]]
ENST00000490216 [[61562183, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61584416, 61584473], [61584601, 61584730], [61584924, 61585030], [61585569, 61585710], [61585999, 61586188], [61586443, 61586635], [61586724, 61586822], [61586913, 61587086], [61587443, 61587584], [61587683, 61587906], [61588048, 61588193], [61590742, 61590825], [61591332, 61591455], [61596288, 61596471], [61596871, 61597206], [61597595, 61597727], [61598702, 61598811], [61598920, 61599205]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61584416, 61584473], [61584601, 61584730], [61584924, 61584989]]
ENST00000290863 [[61562200, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574979]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574727]]
ENST00000582005 [[61562204, 61562427], [61562596, 61562733], [61563652, 61563732], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566452]] [[61562228, 61562427], [61562596, 61562733], [61563652, 61563732], [61563917, 61563939]]
ENST00000421982 [[61562206, 61562330], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574799]] [[61563929, 61564076], [61564346, 61564434], [61566008, 61566152], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574727]]
ENST00000578839 [[61562206, 61562330], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574799]] [[61562206, 61562330], [61562596, 61562605]]
ENST00000413513 [[61562206, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574866]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574727]]
ENST00000579314 [[61562206, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61565930, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574979]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61565930, 61565974]]
ENST00000579204 [[61562228, 61562330], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61565930, 61566152], [61566301, 61566401]] [[61562228, 61562330], [61562596, 61562605]]
ENST00000584865 [[61564183, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571018]] None
ENST00000582761 [[61564361, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568729], [61571282, 61571427], [61571732, 61571766]] [[61564361, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568729], [61571282, 61571427], [61571732, 61571766]]
ENST00000577418 [[61567243, 61567389], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574524]] None
ENST00000583645 [[61567708, 61568412], [61568569, 61568742], [61570796, 61570807]] None
ENST00000578679 [[61571116, 61571427], [61571732, 61571828]] None
ENST00000579409 [[61571764, 61571831], [61573754, 61573877], [61574158, 61574514]] [[61571764, 61571831], [61573754, 61573877], [61574158, 61574384]]
ENST00000582244 [[61573500, 61573877], [61574158, 61574346]] None
NM_000789 [[61554421, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61575741]] [[61554455, 61554704], [61555291, 61555459], [61556367, 61556461], [61557129, 61557273], [61557697, 61557889], [61558451, 61558549], [61558926, 61559099], [61559826, 61560050], [61560389, 61560534], [61560820, 61560919], [61561209, 61561332], [61561690, 61561902], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574727]]
NM_001178057 [[61562177, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61575741]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61574158, 61574346], [61574497, 61574727]]
NM_152830 [[61562177, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61575741]] [[61562228, 61562427], [61562596, 61562733], [61563917, 61564076], [61564346, 61564434], [61566008, 61566152], [61566301, 61566493], [61568314, 61568412], [61568569, 61568742], [61570796, 61571020], [61571282, 61571427], [61571732, 61571831], [61573754, 61573877], [61574158, 61574346], [61574497, 61574727]]
Promoter
Chrom Start End Description
chr17 61553986 61554001 CAGE_peak_3_at_ACE_5end
chr17 61554413 61554430 CAGE_peak_1_at_ACE_5end
chr17 61556395 61556404 CAGE_peak_13_at_ACE_5end
chr17 61556415 61556425 CAGE_peak_7_at_ACE_5end
chr17 61562178 61562189 CAGE_peak_8_at_ACE_5end
chr17 61562201 61562215 CAGE_peak_2_at_ACE_5end
chr17 61562224 61562234 CAGE_peak_5_at_ACE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I062777 62777760 62783074 1.57 [{'connected_gene': 'MED13', 'score': 22.82}, {'connected_gene': 'INTS2', 'score': 21.89}, {'connected_gene': 'TLK2', 'score': 15.94}, {'connected_gene': 'DDX42', 'score': 13.26}, {'connected_gene': 'RPS10P26', 'score': 11.96}, {'connected_gene': 'ACE', 'score': 4.16}, {'connected_gene': 'EFCAB3', 'score': 1.57}, {'connected_gene': 'GC17M062789', 'score': 0.37}, {'connected_gene': 'GC17M062752', 'score': 0.34}, {'connected_gene': 'MARCH10', 'score': 0.31}]
chr17 GH17I063497 63497370 63499920 0.83 [{'connected_gene': 'KCNH6', 'score': 26.98}, {'connected_gene': 'ACE', 'score': 6.57}, {'connected_gene': 'ACE3P', 'score': 0.44}, {'connected_gene': 'ENSG00000264813', 'score': 0.39}]
chr17 GH17I062895 62895245 62896546 0.98 [{'connected_gene': 'MIR633', 'score': 11.15}, {'connected_gene': 'ACE', 'score': 4.01}, {'connected_gene': 'TLK2', 'score': 2.16}, {'connected_gene': 'GC17P062917', 'score': 0.77}, {'connected_gene': 'GC17P062863', 'score': 0.29}]
chr17 GH17I063579 63579286 63580510 0.82 [{'connected_gene': 'TACO1', 'score': 12.1}, {'connected_gene': 'DCAF7', 'score': 11.65}, {'connected_gene': 'CYB561', 'score': 11.3}, {'connected_gene': 'ACE', 'score': 11.13}, {'connected_gene': 'PPIAP55', 'score': 11.13}, {'connected_gene': 'GC17M063574', 'score': 0.44}, {'connected_gene': 'RNU6-288P', 'score': 0.44}, {'connected_gene': 'PIR51747', 'score': 0.39}]
chr17 GH17I063612 63612200 63612600 1.06 [{'connected_gene': 'LOC390806', 'score': 550.77}, {'connected_gene': 'CYB561', 'score': 11.43}, {'connected_gene': 'ACE', 'score': 11.14}, {'connected_gene': 'PPIAP55', 'score': 11.13}, {'connected_gene': 'DCAF7', 'score': 11.12}, {'connected_gene': 'GC17P063614', 'score': 0.77}]
chr17 GH17I063419 63419687 63421301 1.07 [{'connected_gene': 'PPIAP55', 'score': 11.85}, {'connected_gene': 'ACE', 'score': 11.84}, {'connected_gene': 'CYB561', 'score': 11.75}, {'connected_gene': 'TACO1', 'score': 10.87}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'ENSG00000263644', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I064013 64013564 64026490 2.54 [{'connected_gene': 'ICAM2', 'score': 552.44}, {'connected_gene': 'PRR29', 'score': 33.92}, {'connected_gene': 'DDX5', 'score': 32.75}, {'connected_gene': 'FTSJ3', 'score': 30.47}, {'connected_gene': 'SMARCD2', 'score': 29.41}, {'connected_gene': 'POLG2', 'score': 28.67}, {'connected_gene': 'CEP95', 'score': 28.66}, {'connected_gene': 'PLEKHM1P1', 'score': 27.56}, {'connected_gene': 'ENSG00000265982', 'score': 23.49}, {'connected_gene': 'DDX42', 'score': 23.3}, {'connected_gene': 'ENSG00000281311', 'score': 23.09}, {'connected_gene': 'SLC16A6P1', 'score': 20.69}, {'connected_gene': 'CSHL1', 'score': 12.69}, {'connected_gene': 'GH1', 'score': 12.69}, {'connected_gene': 'SCN4A', 'score': 12.43}, {'connected_gene': 'ERN1', 'score': 11.46}, {'connected_gene': 'ACE', 'score': 5.48}, {'connected_gene': 'MILR1', 'score': 2.56}, {'connected_gene': 'LIMD2', 'score': 1.53}, {'connected_gene': 'MAP3K3', 'score': 1.41}, {'connected_gene': 'GC17M064000', 'score': 0.37}]
chr17 GH17I063517 63517060 63517509 0.85 [{'connected_gene': 'DDX5', 'score': 19.48}, {'connected_gene': 'SMARCD2', 'score': 18.96}, {'connected_gene': 'FTSJ3', 'score': 18.62}, {'connected_gene': 'POLG2', 'score': 17.42}, {'connected_gene': 'CEP95', 'score': 15.14}, {'connected_gene': 'ENSG00000281311', 'score': 13.03}, {'connected_gene': 'EEF1DP7', 'score': 12.13}, {'connected_gene': 'DCAF7', 'score': 12.0}, {'connected_gene': 'ACE', 'score': 11.99}, {'connected_gene': 'PPIAP55', 'score': 11.98}, {'connected_gene': 'MAP3K3', 'score': 11.9}, {'connected_gene': 'DDX42', 'score': 11.9}, {'connected_gene': 'CYB561', 'score': 11.32}, {'connected_gene': 'RNU6-288P', 'score': 11.01}, {'connected_gene': 'KCNH6', 'score': 0.44}, {'connected_gene': 'ACE3P', 'score': 0.39}, {'connected_gene': 'ENSG00000264813', 'score': 0.29}]
chr17 GH17I063473 63473697 63479589 2.4 [{'connected_gene': 'ACE', 'score': 550.77}, {'connected_gene': 'KCNH6', 'score': 18.16}, {'connected_gene': 'PPIAP55', 'score': 0.44}]
chr17 GH17I063427 63427916 63428743 1 [{'connected_gene': 'CYB561', 'score': 28.09}, {'connected_gene': 'PPIAP55', 'score': 12.28}, {'connected_gene': 'ACE', 'score': 12.27}, {'connected_gene': 'TACO1', 'score': 11.82}, {'connected_gene': 'ENSG00000263644', 'score': 0.77}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}]
chr17 GH17I063425 63425520 63425669 0.83 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.8}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063423 63423401 63423800 0.58 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.81}, {'connected_gene': 'ENSG00000265971', 'score': 4.67}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063431 63431250 63437805 2.21 [{'connected_gene': 'CYB561', 'score': 573.03}, {'connected_gene': 'DDX42', 'score': 18.1}, {'connected_gene': 'FTSJ3', 'score': 13.18}, {'connected_gene': 'PPIAP55', 'score': 12.3}, {'connected_gene': 'ACE', 'score': 12.28}, {'connected_gene': 'TACO1', 'score': 11.82}, {'connected_gene': 'ENSG00000281311', 'score': 11.53}, {'connected_gene': 'SMARCD2', 'score': 1.59}, {'connected_gene': 'ENSG00000265282', 'score': 0.77}, {'connected_gene': 'PIR45110', 'score': 0.77}, {'connected_gene': 'GC17M063420', 'score': 0.44}]
chr17 GH17I063354 63354149 63354252 0.39 [{'connected_gene': 'LOC105371857', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 46.3}, {'connected_gene': 'STRADA', 'score': 3.01}, {'connected_gene': 'ENSG00000233635', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063549 63549057 63552943 2.35 [{'connected_gene': 'DCAF7', 'score': 555.71}, {'connected_gene': 'FTSJ3', 'score': 52.71}, {'connected_gene': 'DDX42', 'score': 38.63}, {'connected_gene': 'POLG2', 'score': 36.62}, {'connected_gene': 'CEP95', 'score': 34.75}, {'connected_gene': 'RNU6-288P', 'score': 12.05}, {'connected_gene': 'TACO1', 'score': 11.62}, {'connected_gene': 'CYB561', 'score': 11.33}, {'connected_gene': 'ACE', 'score': 11.19}, {'connected_gene': 'PPIAP55', 'score': 11.18}, {'connected_gene': 'DDX5', 'score': 10.55}, {'connected_gene': 'SMARCD2', 'score': 10.53}, {'connected_gene': 'GC17P063567', 'score': 0.37}]
chr17 GH17I063484 63484840 63484942 1.1 [{'connected_gene': 'ENSG00000264813', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 550.44}, {'connected_gene': 'CYB561', 'score': 11.97}, {'connected_gene': 'DCAF7', 'score': 11.34}, {'connected_gene': 'TACO1', 'score': 11.2}, {'connected_gene': 'ACE3P', 'score': 0.34}]

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