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
ENST00000262498 [[58147495, 58147934], [58148713, 58148824], [58149172, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163354]] [[58147928, 58147934], [58148713, 58148824], [58149172, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163019]]
ENST00000562622 [[58147509, 58147934], [58148713, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163275]] None
ENST00000564150 [[58147863, 58147934], [58148713, 58148824], [58149172, 58149471]] None
ENST00000562443 [[58148865, 58148959], [58149172, 58149354]] None
ENST00000565880 [[58149304, 58149354], [58149944, 58150056], [58150775, 58150855], [58162935, 58163265]] [[58149304, 58149354], [58149944, 58150056], [58150775, 58150855], [58162935, 58163019]]
ENST00000567092 [[58149695, 58150056], [58150775, 58150855], [58162935, 58163204]] None
ENST00000567660 [[58150461, 58150855], [58162935, 58163272]] None
NR_136632 [[58147491, 58147934], [58148713, 58148959], [58149172, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163329]] None
NM_013242 [[58147495, 58147934], [58148713, 58148824], [58149172, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163296]] [[58147928, 58147934], [58148713, 58148824], [58149172, 58149361], [58149944, 58150056], [58150775, 58150855], [58162935, 58163019]]
Promoter
Chrom Start End Description
chr16 58163166 58163175 CAGE_peak_5_at_C16orf80_5end
chr16 58163188 58163195 CAGE_peak_4_at_C16orf80_5end
chr16 58163211 58163261 CAGE_peak_1_at_C16orf80_5end
chr16 58163262 58163292 CAGE_peak_2_at_C16orf80_5end
chr16 58163299 58163315 CAGE_peak_3_at_C16orf80_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057626 57626369 57631200 1.96 [{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16 GH16I057645 57645114 57649778 2.17 [{'connected_gene': 'ADGRG1', 'score': 550.28}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.07}, {'connected_gene': 'CNOT1', 'score': 10.91}, {'connected_gene': 'POLR2C', 'score': 9.86}, {'connected_gene': 'ADGRG5', 'score': 2.22}, {'connected_gene': 'CFAP20', 'score': 1.62}, {'connected_gene': 'GC16P057639', 'score': 0.44}, {'connected_gene': 'GC16M057649', 'score': 0.44}]
chr16 GH16I057891 57891775 57895471 1.68 [{'connected_gene': 'RSPRY1', 'score': 15.83}, {'connected_gene': 'ADGRG3', 'score': 15.78}, {'connected_gene': 'CSNK2A2', 'score': 14.07}, {'connected_gene': 'SETD6', 'score': 12.73}, {'connected_gene': 'KIFC3', 'score': 11.62}, {'connected_gene': 'LOC388282', 'score': 11.47}, {'connected_gene': 'CNGB1', 'score': 11.33}, {'connected_gene': 'ADGRG1', 'score': 10.87}, {'connected_gene': 'CNOT1', 'score': 10.17}, {'connected_gene': 'CFAP20', 'score': 10.17}, {'connected_gene': 'ZNF319', 'score': 1.5}, {'connected_gene': 'GC16P057890', 'score': 0.77}, {'connected_gene': 'GC16P057897', 'score': 0.77}]
chr16 GH16I058339 58339558 58339920 0.59 [{'connected_gene': 'GINS3', 'score': 11.27}, {'connected_gene': 'PRSS54', 'score': 10.67}, {'connected_gene': 'CFAP20', 'score': 9.64}, {'connected_gene': 'GC16P058353', 'score': 0.39}, {'connected_gene': 'GC16P058267', 'score': 0.19}]
chr16 GH16I058021 58021893 58029026 2.46 [{'connected_gene': 'MMP15', 'score': 550.77}, {'connected_gene': 'TEPP', 'score': 13.35}, {'connected_gene': 'CFAP20', 'score': 11.36}, {'connected_gene': 'CNGB1', 'score': 10.92}, {'connected_gene': 'CSNK2A2', 'score': 10.71}, {'connected_gene': 'ZNF319', 'score': 4.58}, {'connected_gene': 'GC16P058028', 'score': 0.77}]
chr16 GH16I058119 58119129 58122566 1.29 [{'connected_gene': 'MMP15', 'score': 12.08}, {'connected_gene': 'CSNK2A2', 'score': 10.51}, {'connected_gene': 'CNGB1', 'score': 10.12}, {'connected_gene': 'CFAP20', 'score': 9.42}, {'connected_gene': 'ENSG00000260545', 'score': 0.77}, {'connected_gene': 'GC16M058096', 'score': 0.31}]
chr16 GH16I058118 58118801 58119001 0.2 [{'connected_gene': 'MMP15', 'score': 12.09}, {'connected_gene': 'CSNK2A2', 'score': 10.28}, {'connected_gene': 'CNGB1', 'score': 10.13}, {'connected_gene': 'ENSG00000260545', 'score': 0.77}, {'connected_gene': 'CFAP20', 'score': 0.39}, {'connected_gene': 'GC16M058096', 'score': 0.29}]
chr16 GH16I058032 58032001 58033587 1.1 [{'connected_gene': 'TEPP', 'score': 12.98}, {'connected_gene': 'CFAP20', 'score': 11.37}, {'connected_gene': 'CNGB1', 'score': 10.77}, {'connected_gene': 'CSNK2A2', 'score': 10.72}, {'connected_gene': 'GC16P058028', 'score': 0.77}, {'connected_gene': 'MMP15', 'score': 0.44}, {'connected_gene': 'PIR61773', 'score': 0.39}]
chr16 GH16I058031 58031172 58031836 0.66 [{'connected_gene': 'TEPP', 'score': 13.69}, {'connected_gene': 'CFAP20', 'score': 11.37}, {'connected_gene': 'CNGB1', 'score': 10.77}, {'connected_gene': 'CSNK2A2', 'score': 10.72}, {'connected_gene': 'GC16P058028', 'score': 0.77}, {'connected_gene': 'MMP15', 'score': 0.44}, {'connected_gene': 'PIR61773', 'score': 0.39}]
chr16 GH16I057984 57984657 57985971 1.33 [{'connected_gene': 'TEPP', 'score': 39.24}, {'connected_gene': 'CFAP20', 'score': 8.18}, {'connected_gene': 'CNGB1', 'score': 0.44}, {'connected_gene': 'PIR35383', 'score': 0.39}, {'connected_gene': 'GC16M057997', 'score': 0.39}]
chr16 GH16I058346 58346916 58347093 0.29 [{'connected_gene': 'CFAP20', 'score': 9.98}, {'connected_gene': 'NDRG4', 'score': 4.41}, {'connected_gene': 'GC16P058353', 'score': 0.44}, {'connected_gene': 'GINS3', 'score': 0.23}]
chr16 GH16I058205 58205377 58205526 0.38 [{'connected_gene': 'CFAP20', 'score': 10.34}, {'connected_gene': 'SLC38A7', 'score': 10.23}, {'connected_gene': 'PRSS54', 'score': 10.14}, {'connected_gene': 'RN7SL645P', 'score': 0.44}, {'connected_gene': 'CCDC113', 'score': 0.44}, {'connected_gene': 'ENSG00000260867', 'score': 0.44}, {'connected_gene': 'LOC105371293', 'score': 0.26}]
chr16 GH16I058186 58186338 58188546 0.31 [{'connected_gene': 'CFAP20', 'score': 5.02}, {'connected_gene': 'CCDC113', 'score': 0.44}, {'connected_gene': 'CSNK2A2', 'score': 0.39}, {'connected_gene': 'GC16P058164', 'score': 0.34}]
chr16 GH16I058176 58176594 58177849 0.2 [{'connected_gene': 'CFAP20', 'score': 19.13}, {'connected_gene': 'CSNK2A2', 'score': 6.2}, {'connected_gene': 'GC16P058164', 'score': 0.39}, {'connected_gene': 'CCDC113', 'score': 0.37}]
chr16 GH16I058033 58033863 58034871 0.54 [{'connected_gene': 'CFAP20', 'score': 11.37}, {'connected_gene': 'CNGB1', 'score': 11.0}, {'connected_gene': 'CSNK2A2', 'score': 10.72}, {'connected_gene': 'GC16P058028', 'score': 0.44}, {'connected_gene': 'MMP15', 'score': 0.44}, {'connected_gene': 'PIR61773', 'score': 0.39}]
chr16 GH16I058102 58102429 58103406 0.6 [{'connected_gene': 'CFAP20', 'score': 11.62}, {'connected_gene': 'CNGB1', 'score': 10.0}, {'connected_gene': 'LOC100125393', 'score': 0.44}, {'connected_gene': 'ENSG00000260545', 'score': 0.39}, {'connected_gene': 'GC16M058096', 'score': 0.25}]
chr16 GH16I058110 58110257 58111351 0.88 [{'connected_gene': 'CFAP20', 'score': 5.46}, {'connected_gene': 'ENSG00000260545', 'score': 0.44}, {'connected_gene': 'LOC100125393', 'score': 0.37}, {'connected_gene': 'GC16M058096', 'score': 0.28}]
chr16 GH16I058123 58123530 58124800 0.71 [{'connected_gene': 'CFAP20', 'score': 0.44}, {'connected_gene': 'ENSG00000260545', 'score': 0.44}, {'connected_gene': 'GC16M058096', 'score': 0.31}]
chr16 GH16I058196 58196884 58198746 1.95 [{'connected_gene': 'CCDC113', 'score': 550.77}, {'connected_gene': 'ENSG00000260867', 'score': 550.77}, {'connected_gene': 'CSNK2A2', 'score': 550.77}, {'connected_gene': 'POLR2C', 'score': 20.56}, {'connected_gene': 'SETD6', 'score': 10.3}, {'connected_gene': 'CNOT1', 'score': 9.76}, {'connected_gene': 'CFAP20', 'score': 5.01}]
chr16 GH16I058317 58317416 58318330 0.31 [{'connected_gene': 'PRSS54', 'score': 11.42}, {'connected_gene': 'CCDC113', 'score': 11.11}, {'connected_gene': 'CNGB1', 'score': 9.75}, {'connected_gene': 'CFAP20', 'score': 9.73}, {'connected_gene': 'CSNK2A2', 'score': 9.59}, {'connected_gene': 'GINS3', 'score': 0.34}, {'connected_gene': 'GC16P058353', 'score': 0.28}, {'connected_gene': 'GC16P058267', 'score': 0.23}]
chr16 GH16I058222 58222549 58223088 0.8 [{'connected_gene': 'CSNK2A2', 'score': 12.26}, {'connected_gene': 'CFAP20', 'score': 10.7}, {'connected_gene': 'CNGB1', 'score': 9.57}, {'connected_gene': 'RN7SL645P', 'score': 0.34}, {'connected_gene': 'LOC105371293', 'score': 0.31}, {'connected_gene': 'CCDC113', 'score': 0.31}]
chr16 GH16I058125 58125649 58130284 2.66 [{'connected_gene': 'LOC101927556', 'score': 572.4}, {'connected_gene': 'CFAP20', 'score': 564.32}, {'connected_gene': 'RSPRY1', 'score': 46.36}, {'connected_gene': 'CNOT1', 'score': 39.88}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'CSNK2A2', 'score': 10.78}, {'connected_gene': 'CCL17', 'score': 4.88}, {'connected_gene': 'ENSG00000260545', 'score': 0.39}, {'connected_gene': 'GC16M058096', 'score': 0.34}]
chr16 GH16I058093 58093385 58093694 0.33 [{'connected_gene': 'LOC100125393', 'score': 550.77}, {'connected_gene': 'GC16M058092', 'score': 550.77}, {'connected_gene': 'CFAP20', 'score': 11.33}, {'connected_gene': 'ENSG00000260545', 'score': 0.34}]
chr16 GH16I058114 58114075 58117333 0.63 [{'connected_gene': 'ENSG00000260545', 'score': 550.77}, {'connected_gene': 'MMP15', 'score': 16.42}, {'connected_gene': 'CSNK2A2', 'score': 10.35}, {'connected_gene': 'CNGB1', 'score': 10.29}, {'connected_gene': 'CFAP20', 'score': 9.39}, {'connected_gene': 'LOC100125393', 'score': 0.34}, {'connected_gene': 'GC16M058096', 'score': 0.29}]
chr16 GH16I057889 57889597 57891022 1.26 [{'connected_gene': 'GC16P057890', 'score': 550.77}, {'connected_gene': 'KIFC3', 'score': 11.63}, {'connected_gene': 'LOC388282', 'score': 11.48}, {'connected_gene': 'CNGB1', 'score': 11.33}, {'connected_gene': 'ADGRG3', 'score': 10.88}, {'connected_gene': 'ADGRG1', 'score': 10.87}, {'connected_gene': 'CFAP20', 'score': 10.17}]
chr16 GH16I058029 58029537 58029686 0.4 [{'connected_gene': 'GC16P058028', 'score': 550.77}, {'connected_gene': 'TEPP', 'score': 15.03}, {'connected_gene': 'CFAP20', 'score': 11.37}, {'connected_gene': 'CNGB1', 'score': 10.77}, {'connected_gene': 'CSNK2A2', 'score': 10.72}, {'connected_gene': 'MMP15', 'score': 0.77}, {'connected_gene': 'PIR61773', 'score': 0.37}]
chr16 GH16I058280 58280329 58281699 0.56 [{'connected_gene': 'PIR34447', 'score': 550.77}, {'connected_gene': 'GC16P058281', 'score': 550.77}, {'connected_gene': 'CCDC113', 'score': 18.46}, {'connected_gene': 'CFAP20', 'score': 10.51}, {'connected_gene': 'PRSS54', 'score': 0.39}, {'connected_gene': 'GC16P058267', 'score': 0.39}]
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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