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
ENST00000347132 [[41249683, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41289768, 41289930], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41306124]] [[41249765, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41289768, 41289930], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]]
ENST00000509682 [[41249765, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]] [[41249765, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]]
ENST00000443478 [[41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41292309, 41292366], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304961]] [[41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41292309, 41292366], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]]
ENST00000506017 [[41284635, 41284662], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41289768, 41289930], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41306123]] None
NM_172163 [[41249683, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41306124]] [[41249765, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]]
NM_004700 [[41249683, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41289768, 41289930], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41306124]] [[41249765, 41250079], [41282936, 41283027], [41283835, 41283962], [41284176, 41284352], [41285018, 41285144], [41285546, 41285657], [41285836, 41285932], [41287985, 41288074], [41289768, 41289930], [41296755, 41296976], [41298685, 41298785], [41300638, 41300770], [41303336, 41303466], [41303982, 41304195]]
Promoter
Chrom Start End Description
chr1 41249449 41249471 CAGE_peak_2_at_KCNQ4_5end
chr1 41249474 41249500 CAGE_peak_1_at_KCNQ4_5end
chr1 41249513 41249524 CAGE_peak_7_at_KCNQ4_5end
chr1 41249539 41249550 CAGE_peak_4_at_KCNQ4_5end
chr1 41249986 41250002 CAGE_peak_3_at_KCNQ4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I040738 40738175 40743974 0.73 [{'connected_gene': 'RIMS3', 'score': 22.01}, {'connected_gene': 'LOC105378674', 'score': 16.95}, {'connected_gene': 'KCNQ4', 'score': 15.43}, {'connected_gene': 'NFYC', 'score': 10.88}, {'connected_gene': 'PPT1', 'score': 4.11}, {'connected_gene': 'GC01P040752', 'score': 0.39}, {'connected_gene': 'NFYC-AS1', 'score': 0.25}]
chr1 GH01I040717 40717039 40721882 0.62 [{'connected_gene': 'RIMS3', 'score': 25.36}, {'connected_gene': 'LOC105378674', 'score': 15.78}, {'connected_gene': 'NFYC', 'score': 12.72}, {'connected_gene': 'MIR30E', 'score': 11.9}, {'connected_gene': 'MIR30C1', 'score': 11.88}, {'connected_gene': 'ZFP69', 'score': 6.22}, {'connected_gene': 'KCNQ4', 'score': 4.54}, {'connected_gene': 'NFYC-AS1', 'score': 0.31}, {'connected_gene': 'GC01P040752', 'score': 0.29}]
chr1 GH01I040724 40724076 40725864 0.31 [{'connected_gene': 'RIMS3', 'score': 25.35}, {'connected_gene': 'LOC105378674', 'score': 15.79}, {'connected_gene': 'MIR30E', 'score': 11.75}, {'connected_gene': 'MIR30C1', 'score': 11.74}, {'connected_gene': 'NFYC', 'score': 11.74}, {'connected_gene': 'KCNQ4', 'score': 4.45}, {'connected_gene': 'GC01P040752', 'score': 0.31}, {'connected_gene': 'NFYC-AS1', 'score': 0.29}]
chr1 GH01I040698 40698562 40700523 1.46 [{'connected_gene': 'RIMS3', 'score': 25.49}, {'connected_gene': 'LOC105378674', 'score': 15.91}, {'connected_gene': 'MIR30E', 'score': 11.12}, {'connected_gene': 'MIR30C1', 'score': 11.11}, {'connected_gene': 'NFYC', 'score': 8.2}, {'connected_gene': 'ZNF684', 'score': 7.23}, {'connected_gene': 'KCNQ4', 'score': 4.4}, {'connected_gene': 'EXO5', 'score': 4.37}, {'connected_gene': 'CITED4', 'score': 4.23}, {'connected_gene': 'ZFP69', 'score': 4.07}, {'connected_gene': 'SMAP2', 'score': 2.96}, {'connected_gene': 'ZMPSTE24', 'score': 2.72}, {'connected_gene': 'NFYC-AS1', 'score': 0.44}, {'connected_gene': 'GC01P040752', 'score': 0.23}]
chr1 GH01I040735 40735548 40736822 1.16 [{'connected_gene': 'RIMS3', 'score': 17.95}, {'connected_gene': 'LOC105378674', 'score': 15.76}, {'connected_gene': 'MIR30C1', 'score': 12.23}, {'connected_gene': 'NFYC', 'score': 12.16}, {'connected_gene': 'KCNQ4', 'score': 11.01}, {'connected_gene': 'GC01P040752', 'score': 0.37}, {'connected_gene': 'NFYC-AS1', 'score': 0.26}]
chr1 GH01I040703 40703201 40704400 1.09 [{'connected_gene': 'RIMS3', 'score': 21.19}, {'connected_gene': 'LOC105378674', 'score': 15.88}, {'connected_gene': 'MIR30C1', 'score': 11.2}, {'connected_gene': 'MIR30E', 'score': 11.2}, {'connected_gene': 'LOC105378672', 'score': 5.83}, {'connected_gene': 'KCNQ4', 'score': 4.59}, {'connected_gene': 'NFYC-AS1', 'score': 0.39}, {'connected_gene': 'NFYC', 'score': 0.39}, {'connected_gene': 'GC01P040752', 'score': 0.25}]
chr1 GH01I040690 40690480 40694922 2.34 [{'connected_gene': 'RIMS3', 'score': 584.09}, {'connected_gene': 'NFYC-AS1', 'score': 571.12}, {'connected_gene': 'NFYC', 'score': 569.73}, {'connected_gene': 'ENSG00000259943', 'score': 48.87}, {'connected_gene': 'EXO5', 'score': 31.11}, {'connected_gene': 'TRIT1', 'score': 20.79}, {'connected_gene': 'LOC105378674', 'score': 16.78}, {'connected_gene': 'ZFP69', 'score': 16.38}, {'connected_gene': 'SLFNL1', 'score': 12.88}, {'connected_gene': 'MIR30C1', 'score': 11.1}, {'connected_gene': 'MIR30E', 'score': 11.1}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'TMCO2', 'score': 10.7}, {'connected_gene': 'KCNQ4', 'score': 4.47}, {'connected_gene': 'GC01P040752', 'score': 0.22}]
chr1 GH01I040840 40840684 40841416 0.85 [{'connected_gene': 'KCNQ4', 'score': 11.74}, {'connected_gene': 'MIR30C1', 'score': 11.11}, {'connected_gene': 'MIR30E', 'score': 11.1}, {'connected_gene': 'NFYC', 'score': 11.05}, {'connected_gene': 'SLFNL1', 'score': 9.8}, {'connected_gene': 'LOC105378676', 'score': 0.37}, {'connected_gene': 'RN7SL326P', 'score': 0.28}]
chr1 GH01I040849 40849801 40850679 1.17 [{'connected_gene': 'KCNQ4', 'score': 11.72}, {'connected_gene': 'MIR30C1', 'score': 10.9}, {'connected_gene': 'MIR30E', 'score': 10.89}, {'connected_gene': 'NFYC', 'score': 10.84}, {'connected_gene': 'LOC105378676', 'score': 0.44}, {'connected_gene': 'RN7SL326P', 'score': 0.25}]
chr1 GH01I040848 40848649 40848838 0.99 [{'connected_gene': 'KCNQ4', 'score': 11.73}, {'connected_gene': 'MIR30C1', 'score': 10.9}, {'connected_gene': 'MIR30E', 'score': 10.9}, {'connected_gene': 'NFYC', 'score': 10.84}, {'connected_gene': 'LOC105378676', 'score': 0.44}, {'connected_gene': 'RN7SL326P', 'score': 0.26}]
chr1 GH01I040845 40845201 40845600 0.88 [{'connected_gene': 'KCNQ4', 'score': 11.73}, {'connected_gene': 'MIR30C1', 'score': 10.91}, {'connected_gene': 'MIR30E', 'score': 10.9}, {'connected_gene': 'NFYC', 'score': 10.84}, {'connected_gene': 'LOC105378676', 'score': 0.39}, {'connected_gene': 'RN7SL326P', 'score': 0.26}]
chr1 GH01I040872 40872409 40879162 1.33 [{'connected_gene': 'KCNQ4', 'score': 10.59}, {'connected_gene': 'CITED4', 'score': 10.4}, {'connected_gene': 'ENSG00000229528', 'score': 0.39}, {'connected_gene': 'PIR44205', 'score': 0.37}]
chr1 GH01I040806 40806427 40808104 0.99 [{'connected_gene': 'KCNQ4', 'score': 5.6}, {'connected_gene': 'ZNF684', 'score': 5.38}, {'connected_gene': 'RN7SL326P', 'score': 0.77}, {'connected_gene': 'LOC105378676', 'score': 0.23}]
chr1 GH01I040809 40809059 40810298 1.07 [{'connected_gene': 'KCNQ4', 'score': 5.71}, {'connected_gene': 'RN7SL326P', 'score': 0.77}, {'connected_gene': 'LOC105378676', 'score': 0.25}]
chr1 GH01I040783 40783600 40784401 2.09 [{'connected_gene': 'KCNQ4', 'score': 550.77}, {'connected_gene': 'GC01M040775', 'score': 0.34}, {'connected_gene': 'GC01P040763', 'score': 0.34}]
chr1 GH01I040782 40782529 40782678 0.59 [{'connected_gene': 'KCNQ4', 'score': 550.77}, {'connected_gene': 'GC01P040763', 'score': 0.37}, {'connected_gene': 'GC01M040775', 'score': 0.34}]
chr1 GH01I040774 40774947 40775382 0.43 [{'connected_gene': 'KCNQ4', 'score': 0.44}, {'connected_gene': 'GC01P040763', 'score': 0.39}]
chr1 GH01I040773 40773230 40774796 0.9 [{'connected_gene': 'EXO5', 'score': 16.25}, {'connected_gene': 'LOC105378674', 'score': 15.4}, {'connected_gene': 'RIMS3', 'score': 13.7}, {'connected_gene': 'RLF', 'score': 11.13}, {'connected_gene': 'TRIT1', 'score': 9.72}, {'connected_gene': 'KCNQ4', 'score': 4.76}, {'connected_gene': 'GC01P040763', 'score': 0.39}]
chr1 GH01I040708 40708173 40714303 2.51 [{'connected_gene': 'NFYC', 'score': 556.9}, {'connected_gene': 'EXO5', 'score': 45.44}, {'connected_gene': 'RLF', 'score': 28.4}, {'connected_gene': 'RIMS3', 'score': 24.95}, {'connected_gene': 'TRIT1', 'score': 18.42}, {'connected_gene': 'LOC105378674', 'score': 15.89}, {'connected_gene': 'NFYC-AS1', 'score': 14.93}, {'connected_gene': 'MIR30E', 'score': 11.23}, {'connected_gene': 'MIR30C1', 'score': 11.21}, {'connected_gene': 'LOC105378672', 'score': 10.71}, {'connected_gene': 'ZFP69', 'score': 6.91}, {'connected_gene': 'KCNQ4', 'score': 4.51}, {'connected_gene': 'ZNF684', 'score': 4.35}, {'connected_gene': 'CITED4', 'score': 1.94}, {'connected_gene': 'SMAP2', 'score': 1.49}, {'connected_gene': 'ZMPSTE24', 'score': 1.3}, {'connected_gene': 'GC01P040752', 'score': 0.26}]
chr1 GH01I040796 40796811 40800321 1.04 [{'connected_gene': 'NFYC', 'score': 20.78}, {'connected_gene': 'EXO5', 'score': 14.55}, {'connected_gene': 'MIR30C1', 'score': 11.25}, {'connected_gene': 'MIR30E', 'score': 11.25}, {'connected_gene': 'TRIT1', 'score': 10.95}, {'connected_gene': 'KCNQ4', 'score': 9.05}, {'connected_gene': 'GC01M040775', 'score': 0.44}]
chr1 GH01I040704 40704601 40705400 0.93 [{'connected_gene': 'MIR30E', 'score': 11.21}, {'connected_gene': 'MIR30C1', 'score': 11.2}, {'connected_gene': 'KCNQ4', 'score': 4.5}, {'connected_gene': 'ZFP69', 'score': 4.33}, {'connected_gene': 'NFYC-AS1', 'score': 0.39}, {'connected_gene': 'NFYC', 'score': 0.39}, {'connected_gene': 'GC01P040752', 'score': 0.25}]
chr1 GH01I040801 40801236 40804076 1.33 [{'connected_gene': 'MIR30C1', 'score': 11.14}, {'connected_gene': 'MIR30E', 'score': 11.14}, {'connected_gene': 'NFYC', 'score': 11.03}, {'connected_gene': 'KCNQ4', 'score': 8.29}, {'connected_gene': 'NFYC-AS1', 'score': 5.4}, {'connected_gene': 'GC01M040775', 'score': 0.77}]
chr1 GH01I040795 40795063 40796610 0.74 [{'connected_gene': 'MIR30C1', 'score': 11.27}, {'connected_gene': 'MIR30E', 'score': 11.25}, {'connected_gene': 'NFYC', 'score': 11.14}, {'connected_gene': 'KCNQ4', 'score': 8.62}, {'connected_gene': 'GC01M040775', 'score': 0.44}]
chr1 GH01I040824 40824481 40826008 1.11 [{'connected_gene': 'MIR30C1', 'score': 11.0}, {'connected_gene': 'MIR30E', 'score': 10.99}, {'connected_gene': 'NFYC', 'score': 10.92}, {'connected_gene': 'ZFP69', 'score': 5.21}, {'connected_gene': 'RN7SL326P', 'score': 0.34}, {'connected_gene': 'LOC105378676', 'score': 0.29}, {'connected_gene': 'KCNQ4', 'score': 0.26}]
chr1 GH01I040820 40820560 40821665 1.18 [{'connected_gene': 'ZFP69', 'score': 5.02}, {'connected_gene': 'RN7SL326P', 'score': 0.37}, {'connected_gene': 'LOC105378676', 'score': 0.28}, {'connected_gene': 'KCNQ4', 'score': 0.28}]
chr1 GH01I040819 40818149 40818298 0.49 [{'connected_gene': 'RN7SL326P', 'score': 0.39}, {'connected_gene': 'KCNQ4', 'score': 0.29}, {'connected_gene': 'LOC105378676', 'score': 0.28}]
chr1 GH01I040818 40818600 40819001 1.09 [{'connected_gene': 'RN7SL326P', 'score': 0.39}, {'connected_gene': 'KCNQ4', 'score': 0.29}, {'connected_gene': 'LOC105378676', 'score': 0.28}]
chr1 GH01I040808 40808848 40808920 0.92 [{'connected_gene': 'RN7SL326P', 'score': 0.77}, {'connected_gene': 'KCNQ4', 'score': 0.34}, {'connected_gene': 'LOC105378676', 'score': 0.25}]
chr1 GH01I040753 40753319 40759462 0.88 [{'connected_gene': 'GC01P040760', 'score': 550.77}, {'connected_gene': 'MIR30C1', 'score': 550.77}, {'connected_gene': 'GC01P040759', 'score': 550.77}, {'connected_gene': 'RIMS3', 'score': 18.06}, {'connected_gene': 'LOC105378674', 'score': 16.51}, {'connected_gene': 'ZFP69', 'score': 4.9}, {'connected_gene': 'KCNQ4', 'score': 4.63}, {'connected_gene': 'GC01P040756', 'score': 0.77}, {'connected_gene': 'GC01P040755', 'score': 0.77}, {'connected_gene': 'MIR30E', 'score': 0.77}, {'connected_gene': 'NFYC', 'score': 0.21}]
chr1 GH01I040763 40763664 40764952 0.68 [{'connected_gene': 'GC01P040763', 'score': 550.77}, {'connected_gene': 'LOC105378674', 'score': 15.32}, {'connected_gene': 'NFYC-AS1', 'score': 4.9}, {'connected_gene': 'LOC105378672', 'score': 4.41}, {'connected_gene': 'KCNQ4', 'score': 0.37}, {'connected_gene': 'NFYC', 'score': 0.19}]
chr1 GH01I041185 41185128 41185496 0.24 [{'connected_gene': 'ENSG00000235358', 'score': 30.49}, {'connected_gene': 'FOXO6', 'score': 5.0}, {'connected_gene': 'SCMH1', 'score': 2.62}, {'connected_gene': 'KCNQ4', 'score': 1.54}, {'connected_gene': 'PIR51229', 'score': 0.77}, {'connected_gene': 'GC01M041160', 'score': 0.34}]

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