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
ENST00000258963 [[56048909, 56052261], [56056512, 56056674], [56057963, 56058165], [56059233, 56059297], [56060059, 56060225]] [[56051833, 56052261], [56056512, 56056674], [56057963, 56058165], [56059233, 56059297], [56060059, 56060225]]
ENST00000584396 [[56051119, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56062614, 56062709]] [[56051833, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56062614, 56062620]]
ENST00000581208 [[56051119, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56065439, 56065513]] [[56051833, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56065439, 56065472]]
ENST00000583932 [[56060270, 56060754], [56063345, 56063505], [56065439, 56065620]] [[56060270, 56060319]]
NM_001330393 [[56048907, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56062614, 56062826], [56065439, 56065625]] [[56051833, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56062614, 56062620]]
NM_007146 [[56048909, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56065439, 56065615]] [[56051833, 56052261], [56056512, 56056674], [56057963, 56058147], [56059233, 56059297], [56060059, 56060754], [56065439, 56065472]]
Promoter
Chrom Start End Description
chr17 56065484 56065497 CAGE_peak_3_at_VEZF1_5end
chr17 56065540 56065627 CAGE_peak_1_at_VEZF1_5end
chr17 56065729 56065781 CAGE_peak_2_at_VEZF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I058327 58327280 58348034 2.63 [{'connected_gene': 'TSPOAP1', 'score': 565.91}, {'connected_gene': 'MIR4736', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 52.05}, {'connected_gene': 'MKS1', 'score': 28.81}, {'connected_gene': 'SUPT4H1', 'score': 22.33}, {'connected_gene': 'VEZF1', 'score': 21.83}, {'connected_gene': 'TRIM37', 'score': 15.01}, {'connected_gene': 'DYNLL2', 'score': 5.1}, {'connected_gene': 'TEX14', 'score': 4.62}, {'connected_gene': 'MTMR4', 'score': 3.94}, {'connected_gene': 'MPO', 'score': 3.52}, {'connected_gene': 'RAD51C', 'score': 1.76}, {'connected_gene': 'HSF5', 'score': 1.51}, {'connected_gene': 'OR4D2', 'score': 1.44}, {'connected_gene': 'MIR142', 'score': 0.44}, {'connected_gene': 'ENSG00000265206', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.39}]
chr17 GH17I058511 58511776 58520656 2.32 [{'connected_gene': 'MTMR4', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 38.17}, {'connected_gene': 'RAD51C', 'score': 30.03}, {'connected_gene': 'SRSF1', 'score': 24.29}, {'connected_gene': 'MKS1', 'score': 19.25}, {'connected_gene': 'HSF5', 'score': 11.65}, {'connected_gene': 'VEZF1', 'score': 11.58}, {'connected_gene': 'SEPT4', 'score': 11.09}, {'connected_gene': 'C17orf47', 'score': 11.06}, {'connected_gene': 'SMG8', 'score': 10.35}, {'connected_gene': 'SUPT4H1', 'score': 9.72}, {'connected_gene': 'RNF43', 'score': 8.73}, {'connected_gene': 'SEPT4-AS1', 'score': 0.77}, {'connected_gene': 'PIR59993', 'score': 0.31}]
chr17 GH17I057983 57983911 57991314 2.59 [{'connected_gene': 'VEZF1', 'score': 555.52}, {'connected_gene': 'ENSG00000280233', 'score': 550.77}, {'connected_gene': 'LOC101929185', 'score': 550.77}, {'connected_gene': 'MKS1', 'score': 30.81}, {'connected_gene': 'SRSF1', 'score': 16.34}, {'connected_gene': 'TEX14', 'score': 10.75}, {'connected_gene': 'LOC101927666', 'score': 6.06}, {'connected_gene': 'ENSG00000264112', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.39}, {'connected_gene': 'ENSG00000266086', 'score': 0.37}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I058009 58008920 58009069 0.43 [{'connected_gene': 'SRSF1', 'score': 550.77}, {'connected_gene': 'PIR35824', 'score': 550.77}, {'connected_gene': 'VEZF1', 'score': 5.09}, {'connected_gene': 'GC17P058008', 'score': 0.77}, {'connected_gene': 'LOC105371840', 'score': 0.23}, {'connected_gene': 'GC17M057928', 'score': 0.09}]
chr17 GH17I057648 57648675 57651729 1.11 [{'connected_gene': 'SRSF1', 'score': 53.98}, {'connected_gene': 'MKS1', 'score': 46.65}, {'connected_gene': 'ENSG00000262298', 'score': 31.75}, {'connected_gene': 'COIL', 'score': 27.63}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'DGKE', 'score': 12.93}, {'connected_gene': 'TRIM25', 'score': 11.86}, {'connected_gene': 'RNU7-134P', 'score': 11.47}, {'connected_gene': 'VEZF1', 'score': 9.89}, {'connected_gene': 'GC17P057653', 'score': 0.77}, {'connected_gene': 'GC17P057625', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.05}]
chr17 GH17I057460 57460164 57466909 1.64 [{'connected_gene': 'SRSF1', 'score': 135.83}, {'connected_gene': 'MKS1', 'score': 118.26}, {'connected_gene': 'ENSG00000262298', 'score': 64.86}, {'connected_gene': 'COIL', 'score': 49.2}, {'connected_gene': 'DGKE', 'score': 20.5}, {'connected_gene': 'MSI2', 'score': 10.49}, {'connected_gene': 'VEZF1', 'score': 9.86}, {'connected_gene': 'DYNLL2', 'score': 9.8}, {'connected_gene': 'ENSG00000279281', 'score': 0.37}, {'connected_gene': 'LOC101927557', 'score': 0.21}]
chr17 GH17I057877 57877906 57883355 1.33 [{'connected_gene': 'SRSF1', 'score': 50.26}, {'connected_gene': 'MKS1', 'score': 49.26}, {'connected_gene': 'COIL', 'score': 25.16}, {'connected_gene': 'ENSG00000262298', 'score': 22.55}, {'connected_gene': 'CUEDC1', 'score': 18.11}, {'connected_gene': 'VEZF1', 'score': 13.77}, {'connected_gene': 'MRPS23', 'score': 12.01}, {'connected_gene': 'RAD51C', 'score': 10.68}, {'connected_gene': 'GC17P057856', 'score': 0.34}, {'connected_gene': 'ENSG00000264914', 'score': 0.29}]
chr17 GH17I058005 58004456 58008552 2.74 [{'connected_gene': 'SRSF1', 'score': 626.48}, {'connected_gene': 'ENSG00000279069', 'score': 550.77}, {'connected_gene': 'PIR33066', 'score': 550.77}, {'connected_gene': 'GC17P058008', 'score': 550.77}, {'connected_gene': 'PIR35824', 'score': 550.77}, {'connected_gene': 'ENSG00000266086', 'score': 550.77}, {'connected_gene': 'MKS1', 'score': 50.27}, {'connected_gene': 'VEZF1', 'score': 13.77}, {'connected_gene': 'RAD51C', 'score': 10.68}, {'connected_gene': 'TEX14', 'score': 4.32}, {'connected_gene': 'GC17M057928', 'score': 0.1}]
chr17 GH17I057888 57888380 57896322 1.69 [{'connected_gene': 'SRSF1', 'score': 24.24}, {'connected_gene': 'CUEDC1', 'score': 18.88}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'SUPT4H1', 'score': 2.44}, {'connected_gene': 'VEZF1', 'score': 1.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.37}, {'connected_gene': 'GC17P057856', 'score': 0.28}]
chr17 GH17I057906 57906520 57907584 0.86 [{'connected_gene': 'SRSF1', 'score': 25.73}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CUEDC1', 'score': 11.26}, {'connected_gene': 'MKS1', 'score': 10.97}, {'connected_gene': 'VEZF1', 'score': 4.93}, {'connected_gene': 'ENSG00000264914', 'score': 0.44}, {'connected_gene': 'GC17P057856', 'score': 0.23}]
chr17 GH17I057848 57848693 57854714 2.34 [{'connected_gene': 'MRPS23', 'score': 555.5}, {'connected_gene': 'PIR35014', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 51.26}, {'connected_gene': 'MKS1', 'score': 39.93}, {'connected_gene': 'COIL', 'score': 18.36}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'VEZF1', 'score': 11.67}, {'connected_gene': 'CUEDC1', 'score': 10.32}, {'connected_gene': 'SUPT4H1', 'score': 4.75}, {'connected_gene': 'GC17P057856', 'score': 0.77}]
chr17 GH17I058350 58350833 58351138 0.58 [{'connected_gene': 'TRIM37', 'score': 4.41}, {'connected_gene': 'MTMR4', 'score': 4.11}, {'connected_gene': 'SUPT4H1', 'score': 3.35}, {'connected_gene': 'VEZF1', 'score': 2.66}, {'connected_gene': 'MIR4736', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.31}]
chr17 GH17I057897 57897797 57905999 2.19 [{'connected_gene': 'CUEDC1', 'score': 568.65}, {'connected_gene': 'SRSF1', 'score': 40.87}, {'connected_gene': 'ENSG00000262298', 'score': 26.13}, {'connected_gene': 'MKS1', 'score': 20.25}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'VEZF1', 'score': 5.1}, {'connected_gene': 'ENSG00000263004', 'score': 4.98}, {'connected_gene': 'OR4D2', 'score': 3.18}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}, {'connected_gene': 'GC17P057856', 'score': 0.25}]
chr17 GH17I057979 57979934 57981312 0.38 [{'connected_gene': 'CUEDC1', 'score': 11.87}, {'connected_gene': 'SRSF1', 'score': 10.46}, {'connected_gene': 'LOC101927666', 'score': 5.3}, {'connected_gene': 'VEZF1', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.44}, {'connected_gene': 'LOC101929185', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057975 57975994 57977345 0.43 [{'connected_gene': 'CUEDC1', 'score': 12.14}, {'connected_gene': 'SRSF1', 'score': 10.44}, {'connected_gene': 'LOC101927666', 'score': 7.17}, {'connected_gene': 'VEZF1', 'score': 5.15}, {'connected_gene': 'GC17P057973', 'score': 0.77}, {'connected_gene': 'LOC101929185', 'score': 0.39}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057978 57978084 57979879 0.52 [{'connected_gene': 'CUEDC1', 'score': 11.89}, {'connected_gene': 'SRSF1', 'score': 10.46}, {'connected_gene': 'LOC101927666', 'score': 6.0}, {'connected_gene': 'VEZF1', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.44}, {'connected_gene': 'LOC101929185', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057920 57920683 57922817 0.92 [{'connected_gene': 'CUEDC1', 'score': 11.76}, {'connected_gene': 'MRPS23', 'score': 11.31}, {'connected_gene': 'VEZF1', 'score': 4.49}, {'connected_gene': 'ENSG00000264914', 'score': 0.44}]
chr17 GH17I057922 57922932 57923934 0.31 [{'connected_gene': 'CUEDC1', 'score': 12.24}, {'connected_gene': 'MRPS23', 'score': 11.31}, {'connected_gene': 'VEZF1', 'score': 4.56}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}]
chr17 GH17I058665 58665280 58669233 1.95 [{'connected_gene': 'RNU1-108P', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 33.0}, {'connected_gene': 'RAD51C', 'score': 26.58}, {'connected_gene': 'DHX40', 'score': 19.97}, {'connected_gene': 'SRSF1', 'score': 11.41}, {'connected_gene': 'VEZF1', 'score': 11.29}, {'connected_gene': 'TEX14', 'score': 4.46}, {'connected_gene': 'SUPT4H1', 'score': 1.41}, {'connected_gene': 'ENSG00000266561', 'score': 0.44}, {'connected_gene': 'ENSG00000266826', 'score': 0.34}]
chr17 GH17I058679 58679006 58680351 1.31 [{'connected_gene': 'RNU1-85P', 'score': 550.77}, {'connected_gene': 'GC17M058680', 'score': 550.77}, {'connected_gene': 'GC17M058678', 'score': 550.77}, {'connected_gene': 'RNU1-52P', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 82.15}, {'connected_gene': 'MKS1', 'score': 67.14}, {'connected_gene': 'TRIM37', 'score': 42.72}, {'connected_gene': 'SKA2', 'score': 25.91}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'DHX40', 'score': 19.15}, {'connected_gene': 'SMG8', 'score': 13.98}, {'connected_gene': 'TSPOAP1', 'score': 13.22}, {'connected_gene': 'RNF43', 'score': 5.07}, {'connected_gene': 'TEX14', 'score': 0.39}, {'connected_gene': 'ENSG00000266826', 'score': 0.39}]
chr17 GH17I057982 57982480 57982629 0.51 [{'connected_gene': 'LOC101927666', 'score': 6.05}, {'connected_gene': 'VEZF1', 'score': 0.44}, {'connected_gene': 'GC17P057973', 'score': 0.44}, {'connected_gene': 'LOC101929185', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I058081 58081553 58085752 2.26 [{'connected_gene': 'LOC101927666', 'score': 558.81}, {'connected_gene': 'DYNLL2', 'score': 557.38}, {'connected_gene': 'ENSG00000264112', 'score': 12.08}, {'connected_gene': 'SRSF1', 'score': 10.15}, {'connected_gene': 'VEZF1', 'score': 1.62}, {'connected_gene': 'MTMR4', 'score': 1.46}, {'connected_gene': 'GC17P058094', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.15}]
chr17 GH17I057084 57084201 57089709 2.51 [{'connected_gene': 'ENSG00000263004', 'score': 576.48}, {'connected_gene': 'AKAP1', 'score': 559.37}, {'connected_gene': 'SRSF1', 'score': 23.18}, {'connected_gene': 'COIL', 'score': 21.6}, {'connected_gene': 'ENSG00000262298', 'score': 12.76}, {'connected_gene': 'DGKE', 'score': 11.89}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 10.01}, {'connected_gene': 'ENSG00000263089', 'score': 0.44}]
chr17 GH17I057911 57911225 57913075 1.12 [{'connected_gene': 'ENSG00000264914', 'score': 550.77}, {'connected_gene': 'VEZF1', 'score': 4.92}, {'connected_gene': 'CUEDC1', 'score': 0.26}, {'connected_gene': 'GC17P057856', 'score': 0.22}]
chr17 GH17I057972 57972539 57972792 0.71 [{'connected_gene': 'GC17P057973', 'score': 550.77}, {'connected_gene': 'ENSG00000278642', 'score': 0.37}, {'connected_gene': 'VEZF1', 'score': 0.37}, {'connected_gene': 'GC17M057928', 'score': 0.08}]
chr17 GH17I057096 57096083 57100629 1.25 [{'connected_gene': 'ENSG00000263089', 'score': 555.87}, {'connected_gene': 'ENSG00000263004', 'score': 25.85}, {'connected_gene': 'SRSF1', 'score': 13.8}, {'connected_gene': 'ENSG00000262298', 'score': 12.75}, {'connected_gene': 'AKAP1', 'score': 12.49}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 9.99}, {'connected_gene': 'GC17P057199', 'score': 0.15}]
chr17 GH17I057993 57993202 57996137 1.36 [{'connected_gene': 'ENSG00000264112', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 45.27}, {'connected_gene': 'MKS1', 'score': 20.71}, {'connected_gene': 'VEZF1', 'score': 14.87}, {'connected_gene': 'CUEDC1', 'score': 11.91}, {'connected_gene': 'MRPS23', 'score': 11.61}, {'connected_gene': 'LOC101927666', 'score': 6.02}, {'connected_gene': 'ENSG00000266086', 'score': 0.39}, {'connected_gene': 'GC17M057928', 'score': 0.09}]
chr17 GH17I058658 58658002 58660018 2.4 [{'connected_gene': 'GC17M058661', 'score': 550.77}, {'connected_gene': 'TEX14', 'score': 550.29}, {'connected_gene': 'SRSF1', 'score': 97.53}, {'connected_gene': 'MKS1', 'score': 68.69}, {'connected_gene': 'TRIM37', 'score': 37.42}, {'connected_gene': 'RAD51C', 'score': 30.65}, {'connected_gene': 'DHX40', 'score': 27.37}, {'connected_gene': 'SMG8', 'score': 22.86}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'MTMR4', 'score': 1.89}, {'connected_gene': 'PPM1E', 'score': 1.47}, {'connected_gene': 'SEPT4', 'score': 1.2}, {'connected_gene': 'IGBP1P2', 'score': 0.77}, {'connected_gene': 'LOC105371842', 'score': 0.31}]
chr17 GH17I058630 58630585 58633177 1.85 [{'connected_gene': 'ENSG00000212195', 'score': 550.77}, {'connected_gene': 'GC17M058632', 'score': 550.77}, {'connected_gene': 'LOC105371842', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 109.64}, {'connected_gene': 'MKS1', 'score': 76.69}, {'connected_gene': 'TRIM37', 'score': 46.21}, {'connected_gene': 'DHX40', 'score': 37.35}, {'connected_gene': 'RAD51C', 'score': 34.56}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'SKA2', 'score': 18.05}, {'connected_gene': 'TEX14', 'score': 16.48}, {'connected_gene': 'SMG8', 'score': 13.98}, {'connected_gene': 'TSPOAP1', 'score': 13.22}, {'connected_gene': 'RNU1-108P', 'score': 13.07}, {'connected_gene': 'MTMR4', 'score': 10.85}]
chr17 GH17I057974 57974528 57975909 1.03 [{'connected_gene': 'GC17P057973', 'score': 550.77}, {'connected_gene': 'LOC101927666', 'score': 6.05}, {'connected_gene': 'VEZF1', 'score': 0.39}, {'connected_gene': 'LOC101929185', 'score': 0.39}, {'connected_gene': 'GC17M057928', 'score': 0.08}]

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