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
ENST00000394391 [[57462080, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474895], [57481253, 57481440]] [[57463081, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
ENST00000567518 [[57462098, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473207], [57474683, 57474895], [57481253, 57481331]] [[57463081, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473207], [57474683, 57474840]]
ENST00000565961 [[57462129, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57473097, 57473246], [57474683, 57474895], [57481253, 57481318]] [[57463103, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57473097, 57473246], [57474683, 57474840]]
ENST00000569370 [[57462465, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474895], [57481253, 57481318]] [[57463103, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
ENST00000568940 [[57462849, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474895], [57481253, 57481280]] [[57463103, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
ENST00000569979 [[57462973, 57463192], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474887]] [[57463081, 57463192], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
ENST00000570000 [[57463010, 57463192], [57464169, 57464251], [57465062, 57465178], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474898]] [[57465167, 57465178], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
ENST00000564885 [[57463088, 57463192], [57464169, 57464558]] None
ENST00000567751 [[57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57474864, 57474895], [57481253, 57481278]] [[57464169, 57464251], [57465062, 57465178], [57466398, 57466416]]
ENST00000565786 [[57464239, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473207], [57481253, 57481332]] [[57464239, 57464251], [57465062, 57465178], [57466398, 57466416]]
ENST00000569246 [[57465107, 57465382], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474845]] None
ENST00000565368 [[57465228, 57465382], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474871], [57481253, 57481289]] None
ENST00000563561 [[57467559, 57468124], [57473093, 57473125]] None
ENST00000566284 [[57467821, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57475315]] None
ENST00000563341 [[57470567, 57470644], [57473093, 57473246], [57474683, 57474922], [57481253, 57481289]] [[57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
NM_020313 [[57462080, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474895], [57481253, 57481440]] [[57463081, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
NM_001308358 [[57462080, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474895], [57481253, 57481440]] [[57463103, 57463192], [57464169, 57464251], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473246], [57474683, 57474840]]
NM_001308347 [[57462080, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473207], [57474683, 57474895], [57481253, 57481440]] [[57463081, 57463192], [57464169, 57464251], [57465062, 57465178], [57466398, 57466472], [57467955, 57468124], [57470567, 57470644], [57473093, 57473207], [57474683, 57474840]]
Promoter
Chrom Start End Description
chr16 57481283 57481327 CAGE_peak_1_at_CIAPIN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057617 57617247 57625268 2.16 [{'connected_gene': 'ADGRG1', 'score': 561.9}, {'connected_gene': 'COQ9', 'score': 1.98}, {'connected_gene': 'FAM192A', 'score': 1.74}, {'connected_gene': 'CIAPIN1', 'score': 1.37}, {'connected_gene': 'ENSG00000261633', 'score': 0.39}]
chr16 GH16I057409 57409285 57410691 0.71 [{'connected_gene': 'RSPRY1', 'score': 12.37}, {'connected_gene': 'CIAPIN1', 'score': 11.98}, {'connected_gene': 'POLR2C', 'score': 9.96}, {'connected_gene': 'DOK4', 'score': 6.69}, {'connected_gene': 'CCL17', 'score': 0.39}, {'connected_gene': 'GC16P057430', 'score': 0.37}]
chr16 GH16I057101 57101082 57106247 0.67 [{'connected_gene': 'FAM192A', 'score': 10.81}, {'connected_gene': 'RSPRY1', 'score': 10.81}, {'connected_gene': 'CPNE2', 'score': 6.23}, {'connected_gene': 'CIAPIN1', 'score': 4.83}, {'connected_gene': 'BBS2', 'score': 4.38}, {'connected_gene': 'GC16P057096', 'score': 0.44}, {'connected_gene': 'LOC105371289', 'score': 0.29}]
chr16 GH16I057392 57392355 57393447 0.31 [{'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.71}, {'connected_gene': 'PLLP', 'score': 10.64}, {'connected_gene': 'DOK4', 'score': 6.33}, {'connected_gene': 'CIAPIN1', 'score': 5.58}, {'connected_gene': 'COQ9', 'score': 4.93}, {'connected_gene': 'GC16M057389', 'score': 0.77}, {'connected_gene': 'CCL17', 'score': 0.77}]
chr16 GH16I057341 57340777 57342378 1 [{'connected_gene': 'CX3CL1', 'score': 17.03}, {'connected_gene': 'CIAPIN1', 'score': 11.3}, {'connected_gene': 'RSPRY1', 'score': 10.66}, {'connected_gene': 'CNGB1', 'score': 8.82}, {'connected_gene': 'ENSG00000271456', 'score': 0.44}, {'connected_gene': 'CCL22', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057371 57371350 57374770 2.15 [{'connected_gene': 'CX3CL1', 'score': 550.77}, {'connected_gene': 'CIAPIN1', 'score': 12.26}, {'connected_gene': 'GC16M057308', 'score': 0.37}]
chr16 GH16I057357 57357523 57358570 0.74 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'CIAPIN1', 'score': 7.28}, {'connected_gene': 'POLR2C', 'score': 4.89}, {'connected_gene': 'PLLP', 'score': 4.71}, {'connected_gene': 'ENSG00000271456', 'score': 0.31}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16 GH16I057380 57380669 57381492 0.8 [{'connected_gene': 'CIAPIN1', 'score': 10.22}, {'connected_gene': 'GC16M057308', 'score': 0.44}, {'connected_gene': 'CX3CL1', 'score': 0.44}]
chr16 GH16I057386 57386042 57386903 0.43 [{'connected_gene': 'CIAPIN1', 'score': 14.91}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'PLLP', 'score': 10.76}, {'connected_gene': 'GC16M057308', 'score': 0.77}, {'connected_gene': 'CX3CL1', 'score': 0.39}]
chr16 GH16I057421 57421929 57422938 1 [{'connected_gene': 'CIAPIN1', 'score': 15.39}, {'connected_gene': 'GC16P057430', 'score': 0.44}, {'connected_gene': 'CCL17', 'score': 0.31}]
chr16 GH16I057446 57446154 57448526 2.07 [{'connected_gene': 'CIAPIN1', 'score': 568.24}, {'connected_gene': 'COQ9', 'score': 550.77}, {'connected_gene': 'ADGRG5', 'score': 10.0}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16 GH16I057431 57431908 57433416 0.52 [{'connected_gene': 'CIAPIN1', 'score': 16.67}, {'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.48}, {'connected_gene': 'ARL2BP', 'score': 9.66}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16 GH16I057475 57475396 57477272 1.07 [{'connected_gene': 'CIAPIN1', 'score': 15.39}, {'connected_gene': 'DOK4', 'score': 6.69}, {'connected_gene': 'PIR51542', 'score': 0.44}]
chr16 GH16I057469 57469669 57473767 0.9 [{'connected_gene': 'CIAPIN1', 'score': 16.62}, {'connected_gene': 'PIR51542', 'score': 0.77}, {'connected_gene': 'POLR2C', 'score': 0.44}, {'connected_gene': 'DOK4', 'score': 0.37}]
chr16 GH16I057097 57097476 57099747 0.52 [{'connected_gene': 'CIAPIN1', 'score': 4.93}, {'connected_gene': 'MT3', 'score': 4.46}, {'connected_gene': 'GC16P057096', 'score': 0.77}, {'connected_gene': 'CPNE2', 'score': 0.44}, {'connected_gene': 'LOC105371289', 'score': 0.28}]
chr16 GH16I057416 57416107 57419785 1.18 [{'connected_gene': 'CIAPIN1', 'score': 15.43}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'CX3CL1', 'score': 11.84}, {'connected_gene': 'CCL22', 'score': 11.81}, {'connected_gene': 'PLLP', 'score': 11.76}, {'connected_gene': 'POLR2C', 'score': 11.37}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'GC16P057430', 'score': 0.39}, {'connected_gene': 'CCL17', 'score': 0.34}]
chr16 GH16I057482 57482163 57487479 2.22 [{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16 GH16I057477 57477669 57481876 1.93 [{'connected_gene': 'DOK4', 'score': 560.69}, {'connected_gene': 'COQ9', 'score': 14.12}, {'connected_gene': 'CIAPIN1', 'score': 13.58}, {'connected_gene': 'CCDC102A', 'score': 6.63}, {'connected_gene': 'PIR51542', 'score': 0.39}]
chr16 GH16I057434 57434069 57434218 0.2 [{'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.84}, {'connected_gene': 'CX3CL1', 'score': 10.84}, {'connected_gene': 'CCL22', 'score': 10.81}, {'connected_gene': 'ARL2BP', 'score': 10.08}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}, {'connected_gene': 'CIAPIN1', 'score': 0.39}]
chr16 GH16I057506 57506809 57511126 0.8 [{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16 GH16I057462 57462009 57463777 2.06 [{'connected_gene': 'POLR2C', 'score': 550.77}, {'connected_gene': 'ENSG00000260345', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 17.11}, {'connected_gene': 'CIAPIN1', 'score': 16.63}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'NLRC5', 'score': 10.55}, {'connected_gene': 'DOK4', 'score': 7.62}, {'connected_gene': 'CCDC102A', 'score': 6.3}, {'connected_gene': 'PIR63065', 'score': 0.77}]
chr16 GH16I057382 57382970 57385790 0.87 [{'connected_gene': 'PLLP', 'score': 10.68}, {'connected_gene': 'DOK4', 'score': 7.75}, {'connected_gene': 'CIAPIN1', 'score': 6.67}, {'connected_gene': 'GC16M057308', 'score': 0.77}, {'connected_gene': 'CX3CL1', 'score': 0.39}]
chr16 GH16I057297 57297051 57297723 0.43 [{'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.32}, {'connected_gene': 'CIAPIN1', 'score': 10.86}, {'connected_gene': 'COQ9', 'score': 10.86}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'MT1F', 'score': 5.21}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.77}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057091 57091080 57093401 2.1 [{'connected_gene': 'CPNE2', 'score': 556.62}, {'connected_gene': 'ENSG00000260148', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 19.0}, {'connected_gene': 'CIAPIN1', 'score': 4.8}, {'connected_gene': 'ENSG00000260145', 'score': 0.29}]
chr16 GH16I057299 57297929 57298502 1 [{'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.33}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057298 57298675 57301483 1.52 [{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]
chr16 GH16I057387 57387571 57388833 1.08 [{'connected_gene': 'GC16M057308', 'score': 550.77}, {'connected_gene': 'NUDT21', 'score': 24.01}, {'connected_gene': 'RSPRY1', 'score': 23.16}, {'connected_gene': 'LOC105371286', 'score': 22.41}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'LOC101927556', 'score': 13.2}, {'connected_gene': 'CIAPIN1', 'score': 11.77}, {'connected_gene': 'POLR2C', 'score': 10.01}, {'connected_gene': 'CFAP20', 'score': 9.93}, {'connected_gene': 'CCL17', 'score': 3.5}, {'connected_gene': 'CX3CL1', 'score': 0.37}]

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