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
ENST00000306329 [[8705658, 8706711], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]] [[8705658, 8706711], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]]
ENST00000517570 [[8707408, 8707563], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828962], [8831604, 8832775]] [[8718448, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]]
ENST00000400050 [[8717368, 8717424], [8717901, 8717960], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828962], [8831604, 8832775]] [[8718448, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]]
ENST00000306285 [[8717368, 8717424], [8717901, 8717960], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8792995, 8793118], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8809445, 8809559], [8812976, 8813231], [8819044, 8819257], [8821464, 8821496], [8824696, 8826230], [8831604, 8832775]] [[8796274, 8796460], [8798094, 8798289], [8806890, 8807058], [8809445, 8809559], [8812976, 8813231], [8819044, 8819257], [8821464, 8821496], [8824696, 8826230], [8831604, 8831838]]
ENST00000359865 [[8717368, 8717424], [8717901, 8717960], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8792995, 8793118], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828962], [8831604, 8832776]] [[8718448, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8792995, 8793118], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]]
ENST00000522146 [[8717373, 8717424], [8718421, 8718646], [8720335, 8720494], [8777830, 8777975]] None
ENST00000523122 [[8717756, 8717960], [8718421, 8718590]] [[8718448, 8718590]]
ENST00000520495 [[8782085, 8782715], [8783527, 8784841], [8785687, 8785724], [8785933, 8786089], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8809445, 8810000]] [[8783584, 8784841], [8785687, 8785724], [8785933, 8786089], [8796229, 8796309]]
ENST00000523811 [[8784538, 8784841], [8785687, 8785858]] None
ENST00000517554 [[8784655, 8784841], [8785933, 8787301]] None
ENST00000521018 [[8784671, 8784841], [8785933, 8786089], [8787091, 8787342]] None
ENST00000518815 [[8789671, 8789720], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8809445, 8809559], [8812976, 8813231], [8819044, 8819257], [8821464, 8821496], [8824696, 8826230], [8831604, 8832776]] [[8796274, 8796460], [8798094, 8798289], [8806890, 8807058], [8809445, 8809559], [8812976, 8813231], [8819044, 8819257], [8821464, 8821496], [8824696, 8826230], [8831604, 8831838]]
ENST00000522592 [[8800439, 8800775], [8806890, 8807058], [8812976, 8813042]] None
ENST00000518226 [[8809815, 8810196], [8812976, 8813155]] None
ENST00000519823 [[8811128, 8811254], [8812976, 8813231], [8819044, 8819243]] None
ENST00000520926 [[8812842, 8813231], [8818960, 8819169]] None
ENST00000581670 [[8829920, 8832776]] None
NM_015210 [[8717368, 8717424], [8717901, 8717960], [8718421, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8792995, 8793118], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828962], [8831604, 8832775]] [[8718448, 8718646], [8720335, 8720494], [8777830, 8777890], [8783527, 8784841], [8785933, 8786089], [8792995, 8793118], [8796229, 8796460], [8798094, 8798289], [8806890, 8807058], [8812976, 8813231], [8818960, 8819257], [8821464, 8821496], [8824696, 8826230], [8828905, 8828944]]
Promoter
Chrom Start End Description
chr18 8717374 8717384 CAGE_peak_8_at_CCDC165_5end
chr18 8781915 8781932 CAGE_peak_15_at_CCDC165_5end
chr18 8783586 8783597 CAGE_peak_2_at_CCDC165_5end
chr18 8784129 8784172 CAGE_peak_5_at_CCDC165_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I009079 9079983 9080132 0.58 [{'connected_gene': 'NDUFV2', 'score': 13.35}, {'connected_gene': 'MTCL1', 'score': 10.29}, {'connected_gene': 'GC18P009075', 'score': 0.77}]
chr18 GH18I009013 9013965 9015318 0.71 [{'connected_gene': 'MTCL1', 'score': 10.28}, {'connected_gene': 'PPP4R1', 'score': 9.95}, {'connected_gene': 'ENSG00000263847', 'score': 9.88}, {'connected_gene': 'RPS4XP19', 'score': 0.44}, {'connected_gene': 'PIR38562', 'score': 0.18}]
chr18 GH18I008977 8977263 8977412 0.2 [{'connected_gene': 'MTCL1', 'score': 11.1}, {'connected_gene': 'RPS4XP19', 'score': 0.26}, {'connected_gene': 'PIR38562', 'score': 0.26}]
chr18 GH18I008978 8977768 8978143 0.52 [{'connected_gene': 'MTCL1', 'score': 11.1}, {'connected_gene': 'RPS4XP19', 'score': 0.26}, {'connected_gene': 'PIR38562', 'score': 0.26}]
chr18 GH18I009002 9002105 9003358 0.49 [{'connected_gene': 'MTCL1', 'score': 10.67}, {'connected_gene': 'RPS4XP19', 'score': 0.37}, {'connected_gene': 'PIR38562', 'score': 0.2}]
chr18 GH18I009000 9000893 9001774 0.76 [{'connected_gene': 'MTCL1', 'score': 10.67}, {'connected_gene': 'RPS4XP19', 'score': 0.37}, {'connected_gene': 'PIR38562', 'score': 0.21}]
chr18 GH18I008990 8990359 8991843 0.64 [{'connected_gene': 'MTCL1', 'score': 11.07}, {'connected_gene': 'RPS4XP19', 'score': 0.31}, {'connected_gene': 'PIR38562', 'score': 0.23}]
chr18 GH18I008993 8993685 8995667 0.83 [{'connected_gene': 'MTCL1', 'score': 11.07}, {'connected_gene': 'RPS4XP19', 'score': 0.31}, {'connected_gene': 'PIR38562', 'score': 0.22}]
chr18 GH18I008981 8981933 8984264 1.22 [{'connected_gene': 'MTCL1', 'score': 11.48}, {'connected_gene': 'RPS4XP19', 'score': 0.28}, {'connected_gene': 'PIR38562', 'score': 0.25}]
chr18 GH18I008997 8997422 9000881 0.88 [{'connected_gene': 'MTCL1', 'score': 10.67}, {'connected_gene': 'RPS4XP19', 'score': 0.34}, {'connected_gene': 'PIR38562', 'score': 0.21}]
chr18 GH18I008986 8986759 8988552 1.11 [{'connected_gene': 'MTCL1', 'score': 17.16}, {'connected_gene': 'RPS4XP19', 'score': 0.29}, {'connected_gene': 'PIR38562', 'score': 0.23}]
chr18 GH18I009007 9007996 9010755 1.18 [{'connected_gene': 'MTCL1', 'score': 10.6}, {'connected_gene': 'RPS4XP19', 'score': 0.39}, {'connected_gene': 'PIR38562', 'score': 0.19}]
chr18 GH18I009082 9082495 9084578 1.36 [{'connected_gene': 'MTCL1', 'score': 10.29}, {'connected_gene': 'ANKRD12', 'score': 9.33}, {'connected_gene': 'TWSG1', 'score': 7.14}, {'connected_gene': 'GC18P009075', 'score': 0.44}, {'connected_gene': 'NDUFV2', 'score': 0.37}]
chr18 GH18I008696 8696843 8697012 0.64 [{'connected_gene': 'MTCL1', 'score': 7.17}, {'connected_gene': 'TOMM20P3', 'score': 0.44}, {'connected_gene': 'GACAT2', 'score': 0.39}]
chr18 GH18I008661 8661193 8662614 1.03 [{'connected_gene': 'MTCL1', 'score': 11.4}, {'connected_gene': 'ENSG00000266708', 'score': 0.31}, {'connected_gene': 'TOMM20P3', 'score': 0.31}]
chr18 GH18I008703 8703267 8709832 2.07 [{'connected_gene': 'MTCL1', 'score': 566.02}, {'connected_gene': 'GACAT2', 'score': 550.77}, {'connected_gene': 'ENSG00000266708', 'score': 12.74}, {'connected_gene': 'ANKRD12', 'score': 12.37}]
chr18 GH18I008701 8701411 8702230 0.82 [{'connected_gene': 'MTCL1', 'score': 6.67}, {'connected_gene': 'GACAT2', 'score': 0.44}, {'connected_gene': 'TOMM20P3', 'score': 0.39}]
chr18 GH18I008717 8717332 8717391 0.96 [{'connected_gene': 'MTCL1', 'score': 550.39}, {'connected_gene': 'ENSG00000252319', 'score': 0.77}, {'connected_gene': 'GACAT2', 'score': 0.44}]
chr18 GH18I008711 8711811 8714886 0.49 [{'connected_gene': 'MTCL1', 'score': 0.44}, {'connected_gene': 'ENSG00000252319', 'score': 0.44}, {'connected_gene': 'GACAT2', 'score': 0.44}]
chr18 GH18I008812 8812284 8814934 0.51 [{'connected_gene': 'MTCL1', 'score': 5.38}, {'connected_gene': 'PIR38069', 'score': 0.39}, {'connected_gene': 'ENSG00000272788', 'score': 0.39}]
chr18 GH18I008815 8815667 8817617 0.43 [{'connected_gene': 'MTCL1', 'score': 5.35}, {'connected_gene': 'PIR38069', 'score': 0.44}, {'connected_gene': 'ENSG00000272788', 'score': 0.39}]
chr18 GH18I008781 8781281 8783176 0.52 [{'connected_gene': 'MTCL1', 'score': 10.78}, {'connected_gene': 'ENSG00000272788', 'score': 0.37}, {'connected_gene': 'PIR49588', 'score': 0.31}]
chr18 GH18I008786 8786160 8787802 0.71 [{'connected_gene': 'MTCL1', 'score': 10.76}, {'connected_gene': 'ENSG00000272788', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.29}]
chr18 GH18I008771 8771439 8772869 0.52 [{'connected_gene': 'MTCL1', 'score': 11.24}, {'connected_gene': 'ENSG00000272788', 'score': 5.81}, {'connected_gene': 'PIR49588', 'score': 0.37}]
chr18 GH18I008809 8809789 8811288 0.31 [{'connected_gene': 'MTCL1', 'score': 5.42}, {'connected_gene': 'ENSG00000272788', 'score': 0.44}, {'connected_gene': 'PIR38069', 'score': 0.39}]
chr18 GH18I008745 8744707 8753835 1.22 [{'connected_gene': 'MTCL1', 'score': 11.82}, {'connected_gene': 'PIR49588', 'score': 0.44}, {'connected_gene': 'ENSG00000252319', 'score': 0.31}]
chr18 GH18I008807 8807523 8807672 0.51 [{'connected_gene': 'MTCL1', 'score': 9.79}, {'connected_gene': 'ENSG00000272788', 'score': 0.44}, {'connected_gene': 'PIR38069', 'score': 0.37}]
chr18 GH18I008728 8728922 8732197 1.64 [{'connected_gene': 'MTCL1', 'score': 12.16}, {'connected_gene': 'ENSG00000252319', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.34}]
chr18 GH18I008732 8732383 8733259 0.92 [{'connected_gene': 'MTCL1', 'score': 11.39}, {'connected_gene': 'ENSG00000252319', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.34}]
chr18 GH18I008769 8769843 8769992 0.2 [{'connected_gene': 'MTCL1', 'score': 11.24}, {'connected_gene': 'PIR49588', 'score': 0.37}, {'connected_gene': 'ENSG00000272788', 'score': 0.29}]
chr18 GH18I008895 8895374 8897521 0.2 [{'connected_gene': 'MTCL1', 'score': 10.26}, {'connected_gene': 'GC18P008911', 'score': 0.39}, {'connected_gene': 'GC18M008861', 'score': 0.39}]
chr18 GH18I008792 8792494 8803149 1.46 [{'connected_gene': 'MTCL1', 'score': 22.56}, {'connected_gene': 'ENSG00000273368', 'score': 5.67}, {'connected_gene': 'ENSG00000272788', 'score': 0.77}, {'connected_gene': 'PIR49588', 'score': 0.26}]
chr18 GH18I008898 8898835 8899795 0.54 [{'connected_gene': 'MTCL1', 'score': 10.26}, {'connected_gene': 'GC18P008911', 'score': 0.39}, {'connected_gene': 'GC18M008861', 'score': 0.39}]
chr18 GH18I008734 8734687 8734732 0.2 [{'connected_gene': 'MTCL1', 'score': 11.37}, {'connected_gene': 'ENSG00000252319', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.34}]
chr18 GH18I008765 8765082 8767765 0.69 [{'connected_gene': 'MTCL1', 'score': 11.24}, {'connected_gene': 'ENSG00000272788', 'score': 6.32}, {'connected_gene': 'PIR49588', 'score': 0.39}]
chr18 GH18I008870 8870721 8871989 0.43 [{'connected_gene': 'MTCL1', 'score': 10.11}, {'connected_gene': 'GC18M008848', 'score': 0.77}, {'connected_gene': 'GC18M008861', 'score': 0.39}, {'connected_gene': 'GC18P008830', 'score': 0.26}]
chr18 GH18I008791 8791383 8791532 0.58 [{'connected_gene': 'MTCL1', 'score': 8.53}, {'connected_gene': 'ENSG00000272788', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.28}]
chr18 GH18I008735 8735223 8735372 0.2 [{'connected_gene': 'MTCL1', 'score': 11.37}, {'connected_gene': 'PIR49588', 'score': 0.37}, {'connected_gene': 'ENSG00000252319', 'score': 0.37}]
chr18 GH18I008775 8774063 8774212 0.72 [{'connected_gene': 'MTCL1', 'score': 11.24}, {'connected_gene': 'PIR49588', 'score': 0.37}, {'connected_gene': 'ENSG00000272788', 'score': 0.31}]
chr18 GH18I009025 9025583 9025732 0.38 [{'connected_gene': 'MTCL1', 'score': 11.37}, {'connected_gene': 'GC18P009021', 'score': 0.77}, {'connected_gene': 'GC18P009075', 'score': 0.25}]
chr18 GH18I008774 8774323 8775772 0.72 [{'connected_gene': 'MTCL1', 'score': 11.24}, {'connected_gene': 'ENSG00000272788', 'score': 6.66}, {'connected_gene': 'PIR49588', 'score': 0.34}]
chr18 GH18I008689 8689784 8689968 0.61 [{'connected_gene': 'TOMM20P3', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 0.37}]
chr18 GH18I008844 8844244 8845579 0.59 [{'connected_gene': 'PPP4R1-AS1', 'score': 4.45}, {'connected_gene': 'MTCL1', 'score': 1.63}, {'connected_gene': 'GC18P008830', 'score': 0.39}, {'connected_gene': 'GC18M008848', 'score': 0.31}]
chr18 GH18I008936 8936240 8939370 1.1 [{'connected_gene': 'PIR38562', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 10.38}, {'connected_gene': 'TWSG1', 'score': 5.27}, {'connected_gene': 'VAPA', 'score': 4.65}, {'connected_gene': 'GC18P008911', 'score': 0.31}, {'connected_gene': 'RPS4XP19', 'score': 0.18}]
chr18 GH18I008719 8719303 8719452 0.57 [{'connected_gene': 'ENSG00000252319', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 0.39}, {'connected_gene': 'GACAT2', 'score': 0.39}]
chr18 GH18I008718 8717543 8717752 0.76 [{'connected_gene': 'ENSG00000252319', 'score': 0.77}, {'connected_gene': 'MTCL1', 'score': 0.39}, {'connected_gene': 'GACAT2', 'score': 0.39}]
chr18 GH18I008755 8755106 8756332 0.89 [{'connected_gene': 'PIR49588', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 11.79}, {'connected_gene': 'ENSG00000272788', 'score': 0.25}]
chr18 GH18I008793 8791203 8791352 0.58 [{'connected_gene': 'ENSG00000272788', 'score': 0.39}, {'connected_gene': 'PIR49588', 'score': 0.28}, {'connected_gene': 'MTCL1', 'score': 0.17}]
chr18 GH18I008721 8721401 8722423 0.76 [{'connected_gene': 'ENSG00000252319', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 0.37}, {'connected_gene': 'PIR49588', 'score': 0.29}]
chr18 GH18I009022 9022401 9023000 0.72 [{'connected_gene': 'GC18P009021', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 11.37}, {'connected_gene': 'GC18P009075', 'score': 0.23}]
chr18 GH18I008722 8722934 8724122 0.2 [{'connected_gene': 'ENSG00000252319', 'score': 0.77}, {'connected_gene': 'MTCL1', 'score': 0.37}, {'connected_gene': 'PIR49588', 'score': 0.29}]
chr18 GH18I008744 8744103 8744252 0.4 [{'connected_gene': 'PIR49588', 'score': 0.39}, {'connected_gene': 'ENSG00000252319', 'score': 0.34}, {'connected_gene': 'MTCL1', 'score': 0.28}]
chr18 GH18I008832 8832663 8836356 0.72 [{'connected_gene': 'GC18P008830', 'score': 0.77}, {'connected_gene': 'GC18M008848', 'score': 0.26}, {'connected_gene': 'MTCL1', 'score': 0.13}]
chr18 GH18I008778 8778225 8779003 0.51 [{'connected_gene': 'ENSG00000272788', 'score': 6.29}, {'connected_gene': 'PIR49588', 'score': 0.34}, {'connected_gene': 'MTCL1', 'score': 0.19}]
chr18 GH18I008741 8741750 8743139 0.51 [{'connected_gene': 'PIR49588', 'score': 0.39}, {'connected_gene': 'ENSG00000252319', 'score': 0.34}, {'connected_gene': 'MTCL1', 'score': 0.28}]
chr18 GH18I008724 8724451 8725232 0.38 [{'connected_gene': 'ENSG00000252319', 'score': 0.77}, {'connected_gene': 'MTCL1', 'score': 0.37}, {'connected_gene': 'PIR49588', 'score': 0.29}]
chr18 GH18I008761 8761969 8764039 0.43 [{'connected_gene': 'PIR49588', 'score': 0.44}, {'connected_gene': 'ENSG00000272788', 'score': 0.28}, {'connected_gene': 'MTCL1', 'score': 0.22}]
chr18 GH18I009004 9004501 9007198 0.9 [{'connected_gene': 'ENSG00000266708', 'score': 16.86}, {'connected_gene': 'ANKRD12', 'score': 13.61}, {'connected_gene': 'MTCL1', 'score': 10.66}, {'connected_gene': 'RPS4XP19', 'score': 0.39}, {'connected_gene': 'PIR38562', 'score': 0.2}]
chr18 GH18I009015 9015756 9018906 1.67 [{'connected_gene': 'ENSG00000266708', 'score': 16.86}, {'connected_gene': 'ANKRD12', 'score': 14.79}, {'connected_gene': 'MTCL1', 'score': 11.37}, {'connected_gene': 'RPS4XP19', 'score': 0.77}, {'connected_gene': 'PIR38562', 'score': 0.18}]
chr18 GH18I008665 8665151 8666000 0.77 [{'connected_gene': 'ENSG00000266708', 'score': 17.12}, {'connected_gene': 'ANKRD12', 'score': 13.54}, {'connected_gene': 'MTCL1', 'score': 11.4}, {'connected_gene': 'TOMM20P3', 'score': 0.34}]

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