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
ENST00000396556 [[31699381, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [32022390, 32022794]] [[31703563, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [32022390, 32022671]]
ENST00000429492 [[31699403, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871566]] [[31705510, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871566]]
ENST00000438237 [[31703163, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31917924, 31918004], [31921146, 31921322], [32022390, 32022792]] [[31703563, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31917924, 31918004], [31921146, 31921322], [32022390, 32022671]]
ENST00000467647 [[31774078, 31774649], [31774748, 31774903], [31789401, 31789612], [31871531, 31871672]] None
ENST00000428241 [[31774748, 31774903], [31789401, 31789612], [31839246, 31839333], [31871531, 31871597]] [[31774748, 31774903], [31789401, 31789612], [31839246, 31839333], [31871531, 31871597]]
ENST00000480671 [[31789424, 31789612], [31917924, 31918004], [31921146, 31921322], [32022390, 32022438]] None
ENST00000485205 [[31789463, 31789612], [31871531, 31871723], [31917924, 31918004], [31948339, 31948488]] None
ENST00000467955 [[31789505, 31789612], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [31960878, 31960992]] None
ENST00000466604 [[31863619, 31863735], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [32001634, 32001828]] None
ENST00000463504 [[31917924, 31918004], [31920921, 31921045], [31921146, 31921322], [32010894, 32011047]] None
ENST00000479173 [[31917924, 31918004], [31921146, 31921322], [32087982, 32088095], [32118887, 32119072]] None
ENST00000452791 [[31917926, 31918004], [32022390, 32022797]] None
ENST00000465626 [[31920897, 31921322], [32022390, 32022438]] None
ENST00000469557 [[31703565, 31703608], [31705570, 31706111]] None
ENST00000467598 [[31725359, 31725606], [31743850, 31744000], [31746109, 31746250]] None
ENST00000472175 [[31725460, 31725606], [31743850, 31744000], [31745107, 31745292]] None
ENST00000479396 [[31741790, 31741958], [31743172, 31743321], [31743850, 31743963]] None
ENST00000490009 [[31743867, 31744000], [31750206, 31750656]] None
NM_017784 [[31702316, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [32022390, 32023342]] [[31703563, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31871531, 31871723], [31917924, 31918004], [31921146, 31921322], [32022390, 32022671]]
NM_001174060 [[31702316, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31917924, 31918004], [31921146, 31921322], [32022390, 32023342]] [[31703563, 31703608], [31705570, 31705724], [31710133, 31710316], [31712288, 31712475], [31725125, 31725606], [31743850, 31744000], [31774748, 31774903], [31789401, 31789612], [31917924, 31918004], [31921146, 31921322], [32022390, 32022671]]
Promoter
Chrom Start End Description
chr3 31745284 31745293 CAGE_peak_23_at_OSBPL10_5end
chr3 31745299 31745314 CAGE_peak_12_at_OSBPL10_5end
chr3 31750642 31750655 CAGE_peak_16_at_OSBPL10_5end
chr3 31918351 31918363 CAGE_peak_13_at_OSBPL10_5end
chr3 31918364 31918375 CAGE_peak_9_at_OSBPL10_5end
chr3 31918379 31918390 CAGE_peak_10_at_OSBPL10_5end
chr3 32001842 32001868 CAGE_peak_5_at_OSBPL10_5end
chr3 32022733 32022809 CAGE_peak_1_at_OSBPL10_5end
chr3 32022811 32022825 CAGE_peak_4_at_OSBPL10_5end
chr3 32022830 32022842 CAGE_peak_7_at_OSBPL10_5end
chr3 32022848 32022873 CAGE_peak_3_at_OSBPL10_5end
chr3 32023029 32023040 CAGE_peak_8_at_OSBPL10_5end
chr3 32023114 32023135 CAGE_peak_2_at_OSBPL10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I032177 32177089 32178322 1.12 [{'connected_gene': 'RPSAP11', 'score': 11.87}, {'connected_gene': 'CMTM8', 'score': 11.6}, {'connected_gene': 'KRT18P15', 'score': 11.06}, {'connected_gene': 'RPL31P18', 'score': 9.71}, {'connected_gene': 'CMTM6', 'score': 9.71}, {'connected_gene': 'OSBPL10', 'score': 5.9}, {'connected_gene': 'ENSG00000236732', 'score': 0.31}, {'connected_gene': 'GC03M031988', 'score': 0.07}]
chr3 GH03I031899 31899936 31902198 0.2 [{'connected_gene': 'ZNF860', 'score': 10.61}, {'connected_gene': 'OSBPL10', 'score': 10.53}, {'connected_gene': 'GC03P031801', 'score': 0.15}, {'connected_gene': 'GC03P031803', 'score': 0.15}, {'connected_gene': 'PIR35964', 'score': 0.15}, {'connected_gene': 'GC03P031804', 'score': 0.15}]
chr3 GH03I031902 31902532 31907375 0.43 [{'connected_gene': 'ZNF860', 'score': 10.62}, {'connected_gene': 'OSBPL10', 'score': 10.53}, {'connected_gene': 'GC03P031801', 'score': 0.15}, {'connected_gene': 'GC03P031803', 'score': 0.15}, {'connected_gene': 'PIR35964', 'score': 0.15}, {'connected_gene': 'GC03P031804', 'score': 0.15}]
chr3 GH03I031910 31910796 31912000 0.51 [{'connected_gene': 'ZNF860', 'score': 10.97}, {'connected_gene': 'OSBPL10', 'score': 10.87}, {'connected_gene': 'GC03P031801', 'score': 0.14}, {'connected_gene': 'GC03P031803', 'score': 0.14}, {'connected_gene': 'PIR35964', 'score': 0.14}, {'connected_gene': 'GC03P031804', 'score': 0.14}]
chr3 GH03I031896 31896869 31897018 0.51 [{'connected_gene': 'ZNF860', 'score': 11.03}, {'connected_gene': 'OSBPL10', 'score': 10.95}, {'connected_gene': 'GC03P031801', 'score': 0.15}, {'connected_gene': 'GC03P031803', 'score': 0.15}, {'connected_gene': 'PIR35964', 'score': 0.15}, {'connected_gene': 'GC03P031804', 'score': 0.15}]
chr3 GH03I031889 31889731 31894391 0.82 [{'connected_gene': 'ZNF860', 'score': 10.45}, {'connected_gene': 'OSBPL10', 'score': 10.37}, {'connected_gene': 'GC03P031801', 'score': 0.16}, {'connected_gene': 'GC03P031803', 'score': 0.16}, {'connected_gene': 'PIR35964', 'score': 0.16}, {'connected_gene': 'GC03P031804', 'score': 0.16}]
chr3 GH03I031907 31907731 31910336 0.52 [{'connected_gene': 'ZNF860', 'score': 10.57}, {'connected_gene': 'OSBPL10', 'score': 10.48}, {'connected_gene': 'GC03P031801', 'score': 0.14}, {'connected_gene': 'GC03P031803', 'score': 0.14}, {'connected_gene': 'PIR35964', 'score': 0.14}, {'connected_gene': 'GC03P031804', 'score': 0.14}]
chr3 GH03I031840 31840389 31840538 0.31 [{'connected_gene': 'ZNF860', 'score': 10.51}, {'connected_gene': 'OSBPL10', 'score': 10.47}, {'connected_gene': 'GC03P031801', 'score': 0.26}, {'connected_gene': 'GC03P031803', 'score': 0.26}, {'connected_gene': 'PIR35964', 'score': 0.26}, {'connected_gene': 'GC03P031804', 'score': 0.26}]
chr3 GH03I031971 31971472 31972930 0.58 [{'connected_gene': 'ZNF860', 'score': 0.44}, {'connected_gene': 'OSBPL10', 'score': 0.14}, {'connected_gene': 'GC03P031801', 'score': 0.09}, {'connected_gene': 'GC03P031803', 'score': 0.09}, {'connected_gene': 'PIR35964', 'score': 0.09}, {'connected_gene': 'GC03P031804', 'score': 0.09}]
chr3 GH03I031927 31927036 31928322 0.51 [{'connected_gene': 'ZNF860', 'score': 0.23}, {'connected_gene': 'GC03P031801', 'score': 0.13}, {'connected_gene': 'GC03P031803', 'score': 0.13}, {'connected_gene': 'PIR35964', 'score': 0.13}, {'connected_gene': 'GC03P031804', 'score': 0.13}, {'connected_gene': 'OSBPL10', 'score': 0.11}]
chr3 GH03I032106 32105349 32105578 0.7 [{'connected_gene': 'GPD1L', 'score': 550.77}, {'connected_gene': 'OSBPL10', 'score': 0.31}, {'connected_gene': 'GC03M031988', 'score': 0.06}]
chr3 GH03I032026 32026601 32026800 0.38 [{'connected_gene': 'GPD1L', 'score': 12.41}, {'connected_gene': 'RPL21P40', 'score': 0.77}, {'connected_gene': 'GC03M031986', 'score': 0.26}, {'connected_gene': 'OSBPL10', 'score': 0.23}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I031978 31978019 31983000 2.4 [{'connected_gene': 'OSBPL10', 'score': 559.94}, {'connected_gene': 'ZNF860', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 10.22}, {'connected_gene': 'GC03P031801', 'score': 0.09}, {'connected_gene': 'GC03P031803', 'score': 0.09}, {'connected_gene': 'PIR35964', 'score': 0.09}, {'connected_gene': 'GC03P031804', 'score': 0.09}]
chr3 GH03I031944 31944510 31949461 1.28 [{'connected_gene': 'OSBPL10', 'score': 18.29}, {'connected_gene': 'ZNF860', 'score': 11.79}, {'connected_gene': 'OSBPL10-AS1', 'score': 9.87}, {'connected_gene': 'GC03P031801', 'score': 0.11}, {'connected_gene': 'GC03P031803', 'score': 0.11}, {'connected_gene': 'PIR35964', 'score': 0.11}, {'connected_gene': 'GC03P031804', 'score': 0.11}]
chr3 GH03I032002 32002629 32002778 0.51 [{'connected_gene': 'OSBPL10', 'score': 20.27}, {'connected_gene': 'ZNF860', 'score': 11.99}, {'connected_gene': 'GC03M031986', 'score': 0.37}, {'connected_gene': 'RPL21P40', 'score': 0.31}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I031917 31917019 31920031 1.42 [{'connected_gene': 'OSBPL10', 'score': 5.14}, {'connected_gene': 'ZNF860', 'score': 4.24}, {'connected_gene': 'GC03P031801', 'score': 0.13}, {'connected_gene': 'GC03P031803', 'score': 0.13}, {'connected_gene': 'PIR35964', 'score': 0.13}, {'connected_gene': 'GC03P031804', 'score': 0.13}]
chr3 GH03I031936 31936238 31937516 0.51 [{'connected_gene': 'OSBPL10', 'score': 16.3}, {'connected_gene': 'ZNF860', 'score': 11.36}, {'connected_gene': 'GC03P031801', 'score': 0.12}, {'connected_gene': 'GC03P031803', 'score': 0.12}, {'connected_gene': 'PIR35964', 'score': 0.12}, {'connected_gene': 'GC03P031804', 'score': 0.12}]
chr3 GH03I031649 31649399 31649876 0.48 [{'connected_gene': 'OSBPL10', 'score': 4.12}, {'connected_gene': 'ZNF860', 'score': 3.95}, {'connected_gene': 'PIR58590', 'score': 0.77}, {'connected_gene': 'GC03M031604', 'score': 0.31}]
chr3 GH03I031922 31922621 31923796 0.77 [{'connected_gene': 'OSBPL10', 'score': 4.77}, {'connected_gene': 'ZNF860', 'score': 0.22}, {'connected_gene': 'GC03P031801', 'score': 0.13}, {'connected_gene': 'GC03P031803', 'score': 0.13}, {'connected_gene': 'PIR35964', 'score': 0.13}, {'connected_gene': 'GC03P031804', 'score': 0.13}]
chr3 GH03I031966 31966113 31971144 1.26 [{'connected_gene': 'OSBPL10', 'score': 10.74}, {'connected_gene': 'ZNF860', 'score': 0.39}, {'connected_gene': 'GC03P031801', 'score': 0.1}, {'connected_gene': 'GC03P031803', 'score': 0.1}, {'connected_gene': 'PIR35964', 'score': 0.1}, {'connected_gene': 'GC03P031804', 'score': 0.1}]
chr3 GH03I031973 31973861 31975895 1 [{'connected_gene': 'OSBPL10', 'score': 9.94}, {'connected_gene': 'ZNF860', 'score': 4.94}, {'connected_gene': 'GC03P031801', 'score': 0.09}, {'connected_gene': 'GC03P031803', 'score': 0.09}, {'connected_gene': 'PIR35964', 'score': 0.09}, {'connected_gene': 'GC03P031804', 'score': 0.09}]
chr3 GH03I031941 31941309 31942101 0.7 [{'connected_gene': 'OSBPL10', 'score': 16.92}, {'connected_gene': 'ZNF860', 'score': 11.76}, {'connected_gene': 'GC03P031801', 'score': 0.11}, {'connected_gene': 'GC03P031803', 'score': 0.11}, {'connected_gene': 'PIR35964', 'score': 0.11}, {'connected_gene': 'GC03P031804', 'score': 0.11}]
chr3 GH03I031956 31956645 31963944 1.39 [{'connected_gene': 'OSBPL10', 'score': 8.41}, {'connected_gene': 'ZNF860', 'score': 0.34}, {'connected_gene': 'GC03P031801', 'score': 0.1}, {'connected_gene': 'GC03P031803', 'score': 0.1}, {'connected_gene': 'PIR35964', 'score': 0.1}, {'connected_gene': 'GC03P031804', 'score': 0.1}]
chr3 GH03I032077 32077629 32077778 0.76 [{'connected_gene': 'OSBPL10', 'score': 550.77}, {'connected_gene': 'GPD1L', 'score': 0.31}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I032078 32077401 32077600 0.75 [{'connected_gene': 'OSBPL10', 'score': 550.77}, {'connected_gene': 'NIFKP7', 'score': 0.39}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I031875 31875921 31877442 0.69 [{'connected_gene': 'OSBPL10-AS1', 'score': 10.43}, {'connected_gene': 'OSBPL10', 'score': 10.42}, {'connected_gene': 'GC03P031801', 'score': 0.18}, {'connected_gene': 'GC03P031803', 'score': 0.18}, {'connected_gene': 'PIR35964', 'score': 0.18}, {'connected_gene': 'GC03P031804', 'score': 0.18}, {'connected_gene': 'ZNF860', 'score': 0.14}]
chr3 GH03I031872 31872956 31874266 0.2 [{'connected_gene': 'OSBPL10-AS1', 'score': 10.43}, {'connected_gene': 'OSBPL10', 'score': 10.42}, {'connected_gene': 'GC03P031801', 'score': 0.19}, {'connected_gene': 'GC03P031803', 'score': 0.19}, {'connected_gene': 'PIR35964', 'score': 0.19}, {'connected_gene': 'GC03P031804', 'score': 0.19}, {'connected_gene': 'ZNF860', 'score': 0.14}]
chr3 GH03I031594 31594542 31596688 0.2 [{'connected_gene': 'OSBPL10-AS1', 'score': 10.74}, {'connected_gene': 'OSBPL10', 'score': 10.64}, {'connected_gene': 'GC03M031604', 'score': 0.31}, {'connected_gene': 'GC03M031530', 'score': 0.21}, {'connected_gene': 'STT3B', 'score': 0.21}]
chr3 GH03I031755 31755844 31755910 0.2 [{'connected_gene': 'OSBPL10-AS1', 'score': 10.51}, {'connected_gene': 'OSBPL10', 'score': 10.34}, {'connected_gene': 'ZNF587P1', 'score': 0.28}]
chr3 GH03I031724 31724089 31724958 0.65 [{'connected_gene': 'OSBPL10-AS1', 'score': 12.41}, {'connected_gene': 'OSBPL10', 'score': 12.13}, {'connected_gene': 'ZNF587P1', 'score': 0.2}]
chr3 GH03I031713 31713801 31714000 0.31 [{'connected_gene': 'OSBPL10-AS1', 'score': 0.44}, {'connected_gene': 'ZNF587P1', 'score': 0.18}, {'connected_gene': 'OSBPL10', 'score': 0.05}]
chr3 GH03I031704 31704010 31705623 0.72 [{'connected_gene': 'OSBPL10-AS1', 'score': 567.83}, {'connected_gene': 'ZNF587P1', 'score': 0.17}, {'connected_gene': 'OSBPL10', 'score': 0.05}]
chr3 GH03I032019 32019189 32019318 0.63 [{'connected_gene': 'RPL21P40', 'score': 0.39}, {'connected_gene': 'GC03M031986', 'score': 0.29}, {'connected_gene': 'OSBPL10', 'score': 0.22}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I031839 31839568 31840278 0.54 [{'connected_gene': 'GC03P031801', 'score': 0.28}, {'connected_gene': 'GC03P031803', 'score': 0.28}, {'connected_gene': 'PIR35964', 'score': 0.28}, {'connected_gene': 'GC03P031804', 'score': 0.28}, {'connected_gene': 'ZNF860', 'score': 0.11}, {'connected_gene': 'OSBPL10', 'score': 0.07}]
chr3 GH03I031832 31832649 31832798 0.2 [{'connected_gene': 'GC03P031801', 'score': 0.29}, {'connected_gene': 'GC03P031803', 'score': 0.29}, {'connected_gene': 'PIR35964', 'score': 0.29}, {'connected_gene': 'GC03P031804', 'score': 0.29}, {'connected_gene': 'ZNF860', 'score': 0.11}, {'connected_gene': 'OSBPL10', 'score': 0.07}]
chr3 GH03I031880 31880000 31880438 0.97 [{'connected_gene': 'GC03P031801', 'score': 0.18}, {'connected_gene': 'GC03P031803', 'score': 0.18}, {'connected_gene': 'PIR35964', 'score': 0.18}, {'connected_gene': 'GC03P031804', 'score': 0.18}, {'connected_gene': 'ZNF860', 'score': 0.15}, {'connected_gene': 'OSBPL10', 'score': 0.08}]
chr3 GH03I031803 31803001 31803400 0.4 [{'connected_gene': 'GC03P031801', 'score': 0.77}, {'connected_gene': 'GC03P031803', 'score': 0.77}, {'connected_gene': 'PIR35964', 'score': 0.77}, {'connected_gene': 'GC03P031804', 'score': 0.77}, {'connected_gene': 'ZNF860', 'score': 0.1}, {'connected_gene': 'OSBPL10', 'score': 0.06}]
chr3 GH03I031883 31883250 31883556 0.45 [{'connected_gene': 'GC03P031801', 'score': 0.18}, {'connected_gene': 'GC03P031803', 'score': 0.18}, {'connected_gene': 'PIR35964', 'score': 0.18}, {'connected_gene': 'GC03P031804', 'score': 0.18}, {'connected_gene': 'ZNF860', 'score': 0.15}, {'connected_gene': 'OSBPL10', 'score': 0.08}]
chr3 GH03I032044 32044846 32046257 1.12 [{'connected_gene': 'ENSG00000252398', 'score': 550.77}, {'connected_gene': 'GPD1L', 'score': 32.36}, {'connected_gene': 'ENSG00000201701', 'score': 0.44}, {'connected_gene': 'OSBPL10', 'score': 0.29}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I032038 32037129 32037278 0.46 [{'connected_gene': 'GC03P032037', 'score': 550.77}, {'connected_gene': 'ENSG00000201701', 'score': 550.77}, {'connected_gene': 'GC03P032030', 'score': 0.44}, {'connected_gene': 'OSBPL10', 'score': 0.26}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I032037 32037314 32038166 0.69 [{'connected_gene': 'GC03P032037', 'score': 550.77}, {'connected_gene': 'ENSG00000201701', 'score': 550.77}, {'connected_gene': 'ENSG00000252398', 'score': 0.44}, {'connected_gene': 'OSBPL10', 'score': 0.28}, {'connected_gene': 'GC03M031988', 'score': 0.05}]
chr3 GH03I031671 31671801 31672200 0.31 [{'connected_gene': 'PIR58590', 'score': 0.37}, {'connected_gene': 'OSBPL10-AS1', 'score': 0.29}, {'connected_gene': 'OSBPL10', 'score': 0.05}]
chr3 GH03I031668 31668269 31668498 0.59 [{'connected_gene': 'PIR58590', 'score': 0.39}, {'connected_gene': 'OSBPL10-AS1', 'score': 0.28}, {'connected_gene': 'OSBPL10', 'score': 0.05}]
chr3 GH03I031670 31670349 31670418 0.2 [{'connected_gene': 'PIR58590', 'score': 0.37}, {'connected_gene': 'OSBPL10-AS1', 'score': 0.29}, {'connected_gene': 'OSBPL10', 'score': 0.05}]
chr3 GH03I031678 31678600 31679000 0.58 [{'connected_gene': 'PIR58590', 'score': 0.34}, {'connected_gene': 'OSBPL10-AS1', 'score': 0.31}, {'connected_gene': 'OSBPL10', 'score': 0.05}]

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