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
ENST00000261247 [[59951160, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59971429]] [[59951307, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
ENST00000554754 [[59951162, 59951311], [59954391, 59954546], [59961735, 59961942], [59965444, 59965495]] None
ENST00000557560 [[59951209, 59951311], [59951707, 59951834], [59953430, 59953522], [59954391, 59954546], [59961735, 59961870]] None
ENST00000425728 [[59951220, 59951311], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59971421]] [[59951307, 59951311], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
ENST00000553156 [[59951245, 59951311], [59952182, 59952686]] None
ENST00000555491 [[59951248, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961805], [59965444, 59965626], [59967908, 59967965]] [[59951307, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961805], [59965444, 59965546]]
ENST00000556985 [[59951254, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59962023]] [[59951307, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961946]]
ENST00000554271 [[59951262, 59951834], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59971423]] [[59951788, 59951834], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
ENST00000554795 [[59951277, 59951311], [59951707, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985]] [[59951788, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985]]
ENST00000553941 [[59951286, 59951311], [59953398, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970992]] None
ENST00000356057 [[59951788, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59971423]] [[59951788, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
ENST00000602482 [[59953398, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972128]] None
ENST00000554721 [[59953911, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59971421]] None
ENST00000553647 [[59967599, 59967985], [59970571, 59970754]] None
NM_001098625 [[59951160, 59951311], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972125]] [[59951307, 59951311], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
NM_001284204 [[59951160, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59970571, 59972125]] [[59951307, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59970571, 59970573]]
NM_016475 [[59951160, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972125]] [[59951307, 59951311], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
NM_001284203 [[59951160, 59951311], [59953398, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972125]] [[59954484, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
NM_001284202 [[59951160, 59951311], [59951707, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972125]] [[59951788, 59951834], [59953448, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
NM_001284201 [[59951160, 59951834], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59972125]] [[59951788, 59951834], [59953430, 59953522], [59954391, 59954546], [59961735, 59961942], [59965444, 59965626], [59967908, 59967985], [59970571, 59970790]]
Promoter
Chrom Start End Description
chr14 59951206 59951276 CAGE_peak_1_at_JKAMP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058871 58871585 58872438 0.46 [{'connected_gene': 'JKAMP', 'score': 4.03}, {'connected_gene': 'LOC440181', 'score': 0.26}, {'connected_gene': 'LINC01500', 'score': 0.26}, {'connected_gene': 'GC14M059001', 'score': 0.07}]
chr14 GH14I059342 59342971 59344168 0.51 [{'connected_gene': 'JKAMP', 'score': 8.36}, {'connected_gene': 'GC14P059386', 'score': 0.26}, {'connected_gene': 'GC14P059252', 'score': 0.16}, {'connected_gene': 'DAAM1', 'score': 0.1}]
chr14 GH14I059398 59398903 59399112 0.69 [{'connected_gene': 'JKAMP', 'score': 7.09}, {'connected_gene': 'GC14P059386', 'score': 0.39}, {'connected_gene': 'PIR32681', 'score': 0.2}]
chr14 GH14I059354 59354200 59356460 0.69 [{'connected_gene': 'DAAM1', 'score': 10.15}, {'connected_gene': 'JKAMP', 'score': 6.68}, {'connected_gene': 'L3HYPDH', 'score': 4.54}, {'connected_gene': 'GC14P059386', 'score': 0.29}, {'connected_gene': 'GC14P059252', 'score': 0.15}]
chr14 GH14I059371 59371858 59372336 0.51 [{'connected_gene': 'DAAM1', 'score': 10.13}, {'connected_gene': 'JKAMP', 'score': 6.52}, {'connected_gene': 'L3HYPDH', 'score': 5.81}, {'connected_gene': 'GC14P059386', 'score': 0.39}, {'connected_gene': 'GC14P059252', 'score': 0.13}]
chr14 GH14I059510 59510446 59512878 0.6 [{'connected_gene': 'L3HYPDH', 'score': 52.13}, {'connected_gene': 'CCDC175', 'score': 13.13}, {'connected_gene': 'JKAMP', 'score': 11.45}, {'connected_gene': 'ENSG00000258782', 'score': 0.39}]
chr14 GH14I059529 59529042 59529848 0.31 [{'connected_gene': 'L3HYPDH', 'score': 55.64}, {'connected_gene': 'CCDC175', 'score': 20.38}, {'connected_gene': 'JKAMP', 'score': 11.67}, {'connected_gene': 'ENSG00000258782', 'score': 0.77}]
chr14 GH14I059507 59507090 59508281 0.92 [{'connected_gene': 'L3HYPDH', 'score': 33.66}, {'connected_gene': 'CCDC175', 'score': 13.13}, {'connected_gene': 'JKAMP', 'score': 11.48}, {'connected_gene': 'ENSG00000258782', 'score': 0.37}]
chr14 GH14I059600 59600058 59601841 0.31 [{'connected_gene': 'L3HYPDH', 'score': 18.97}, {'connected_gene': 'RTN1', 'score': 5.74}, {'connected_gene': 'JKAMP', 'score': 5.68}, {'connected_gene': 'GC14M059571', 'score': 0.39}, {'connected_gene': 'MIR5586', 'score': 0.25}]
chr14 GH14I059481 59481273 59486654 2.51 [{'connected_gene': 'L3HYPDH', 'score': 605.98}, {'connected_gene': 'JKAMP', 'score': 559.9}, {'connected_gene': 'GPR135', 'score': 13.31}, {'connected_gene': 'PCNX4', 'score': 11.73}, {'connected_gene': 'RBM8B', 'score': 5.72}, {'connected_gene': 'ENSG00000258782', 'score': 0.26}]
chr14 GH14I059594 59594603 59594876 0.22 [{'connected_gene': 'L3HYPDH', 'score': 18.8}, {'connected_gene': 'JKAMP', 'score': 10.07}, {'connected_gene': 'RTN1', 'score': 9.37}, {'connected_gene': 'DAAM1', 'score': 2.52}, {'connected_gene': 'CCDC175', 'score': 1.51}, {'connected_gene': 'GC14M059571', 'score': 0.44}, {'connected_gene': 'MIR5586', 'score': 0.23}]
chr14 GH14I059563 59563917 59567134 0.65 [{'connected_gene': 'L3HYPDH', 'score': 47.95}, {'connected_gene': 'JKAMP', 'score': 20.33}, {'connected_gene': 'RTN1', 'score': 4.71}, {'connected_gene': 'DAAM1', 'score': 4.29}, {'connected_gene': 'DHRS7', 'score': 4.09}, {'connected_gene': 'CCDC175', 'score': 0.37}, {'connected_gene': 'ENSG00000258782', 'score': 0.26}]
chr14 GH14I059405 59405890 59408483 1.17 [{'connected_gene': 'L3HYPDH', 'score': 29.89}, {'connected_gene': 'JKAMP', 'score': 10.69}, {'connected_gene': 'RTN1', 'score': 10.6}, {'connected_gene': 'DAAM1', 'score': 10.09}, {'connected_gene': 'RBM8B', 'score': 4.76}, {'connected_gene': 'GC14P059386', 'score': 0.34}, {'connected_gene': 'PIR32681', 'score': 0.22}]
chr14 GH14I059453 59453863 59455976 0.63 [{'connected_gene': 'L3HYPDH', 'score': 50.37}, {'connected_gene': 'JKAMP', 'score': 11.43}, {'connected_gene': 'DAAM1', 'score': 10.11}, {'connected_gene': 'PIR32681', 'score': 0.44}, {'connected_gene': 'GPR135', 'score': 0.39}, {'connected_gene': 'GC14P059386', 'score': 0.2}]
chr14 GH14I059444 59444201 59444600 0.64 [{'connected_gene': 'L3HYPDH', 'score': 16.41}, {'connected_gene': 'JKAMP', 'score': 12.36}, {'connected_gene': 'DAAM1', 'score': 10.81}, {'connected_gene': 'PIR32681', 'score': 0.37}, {'connected_gene': 'GPR135', 'score': 0.34}, {'connected_gene': 'GC14P059386', 'score': 0.22}]
chr14 GH14I059424 59424202 59426292 0.51 [{'connected_gene': 'L3HYPDH', 'score': 14.09}, {'connected_gene': 'JKAMP', 'score': 10.32}, {'connected_gene': 'DAAM1', 'score': 10.21}, {'connected_gene': 'RBM8B', 'score': 5.44}, {'connected_gene': 'GC14P059386', 'score': 0.28}, {'connected_gene': 'PIR32681', 'score': 0.28}]
chr14 GH14I059418 59418730 59420072 0.2 [{'connected_gene': 'L3HYPDH', 'score': 12.79}, {'connected_gene': 'JKAMP', 'score': 11.47}, {'connected_gene': 'DAAM1', 'score': 10.37}, {'connected_gene': 'GC14P059386', 'score': 0.29}, {'connected_gene': 'PIR32681', 'score': 0.26}]
chr14 GH14I059595 59595099 59595769 0.54 [{'connected_gene': 'L3HYPDH', 'score': 29.52}, {'connected_gene': 'JKAMP', 'score': 10.07}, {'connected_gene': 'GC14M059571', 'score': 0.44}, {'connected_gene': 'MIR5586', 'score': 0.23}]
chr14 GH14I059305 59305018 59307750 1.14 [{'connected_gene': 'L3HYPDH', 'score': 21.34}, {'connected_gene': 'DAAM1', 'score': 14.68}, {'connected_gene': 'PCNX4', 'score': 12.93}, {'connected_gene': 'KIAA0586', 'score': 11.84}, {'connected_gene': 'JKAMP', 'score': 10.2}, {'connected_gene': 'RTN1', 'score': 4.75}, {'connected_gene': 'GC14P059252', 'score': 0.23}, {'connected_gene': 'GC14P059386', 'score': 0.18}]
chr14 GH14I059359 59359983 59365837 1.31 [{'connected_gene': 'L3HYPDH', 'score': 20.97}, {'connected_gene': 'DAAM1', 'score': 15.82}, {'connected_gene': 'JKAMP', 'score': 6.45}, {'connected_gene': 'RTN1', 'score': 5.23}, {'connected_gene': 'GC14P059386', 'score': 0.34}, {'connected_gene': 'GC14P059252', 'score': 0.14}]
chr14 GH14I059344 59344874 59345492 0.2 [{'connected_gene': 'L3HYPDH', 'score': 15.87}, {'connected_gene': 'DAAM1', 'score': 10.21}, {'connected_gene': 'JKAMP', 'score': 5.74}, {'connected_gene': 'GC14P059386', 'score': 0.26}, {'connected_gene': 'GC14P059252', 'score': 0.16}]
chr14 GH14I059376 59376787 59378538 1.07 [{'connected_gene': 'L3HYPDH', 'score': 12.47}, {'connected_gene': 'DAAM1', 'score': 10.13}, {'connected_gene': 'JKAMP', 'score': 6.86}, {'connected_gene': 'GC14P059386', 'score': 0.44}, {'connected_gene': 'GC14P059252', 'score': 0.13}]
chr14 GH14I059345 59345750 59350427 0.71 [{'connected_gene': 'L3HYPDH', 'score': 20.3}, {'connected_gene': 'DAAM1', 'score': 10.21}, {'connected_gene': 'JKAMP', 'score': 7.56}, {'connected_gene': 'GC14P059386', 'score': 0.28}, {'connected_gene': 'GC14P059252', 'score': 0.15}]
chr14 GH14I059373 59373913 59374759 0.38 [{'connected_gene': 'L3HYPDH', 'score': 12.45}, {'connected_gene': 'DAAM1', 'score': 10.13}, {'connected_gene': 'JKAMP', 'score': 6.67}, {'connected_gene': 'GC14P059386', 'score': 0.39}, {'connected_gene': 'GC14P059252', 'score': 0.13}]
chr14 GH14I059356 59356627 59359214 1.16 [{'connected_gene': 'L3HYPDH', 'score': 12.48}, {'connected_gene': 'DAAM1', 'score': 10.15}, {'connected_gene': 'JKAMP', 'score': 6.67}, {'connected_gene': 'GC14P059386', 'score': 0.31}, {'connected_gene': 'GC14P059252', 'score': 0.14}]
chr14 GH14I058897 58897910 58900462 0.6 [{'connected_gene': 'ENSG00000258682', 'score': 5.15}, {'connected_gene': 'JKAMP', 'score': 4.15}, {'connected_gene': 'LOC440181', 'score': 0.19}, {'connected_gene': 'LINC01500', 'score': 0.19}, {'connected_gene': 'GC14M059001', 'score': 0.08}]
chr14 GH14I058660 58659840 58660815 0.64 [{'connected_gene': 'ENSG00000258682', 'score': 46.03}, {'connected_gene': 'PSMA3-AS1', 'score': 44.64}, {'connected_gene': 'KIAA0586', 'score': 42.92}, {'connected_gene': 'HMGB1P14', 'score': 38.35}, {'connected_gene': 'L3HYPDH', 'score': 32.36}, {'connected_gene': 'ARID4A', 'score': 18.86}, {'connected_gene': 'GPR135', 'score': 13.41}, {'connected_gene': 'TIMM9', 'score': 11.67}, {'connected_gene': 'DACT1', 'score': 10.48}, {'connected_gene': 'JKAMP', 'score': 10.13}, {'connected_gene': 'HNRNPCP1', 'score': 10.01}, {'connected_gene': 'ENSG00000259969', 'score': 9.7}, {'connected_gene': 'GC14P058645', 'score': 0.37}, {'connected_gene': 'LOC102723725', 'score': 0.17}]

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