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
ENST00000369780 [[105253735, 105254229], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105352309]] [[105254144, 105254229], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105350129]]
ENST00000437579 [[105314988, 105315170], [105330628, 105330870], [105331257, 105331579]] [[105315136, 105315170], [105330628, 105330870], [105331257, 105331579]]
ENST00000369777 [[105315136, 105315170], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105352309]] [[105315136, 105315170], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105350129]]
ENST00000455386 [[105317841, 105318005], [105330628, 105330870], [105331257, 105331479]] [[105330768, 105330870], [105331257, 105331479]]
ENST00000465048 [[105331433, 105331579], [105337358, 105337659]] None
NM_004210 [[105253734, 105254229], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105352309]] [[105254144, 105254229], [105330628, 105330870], [105331257, 105331579], [105344292, 105344982], [105349270, 105349417], [105349890, 105350129]]
Promoter
Chrom Start End Description
chr10 105253348 105253369 CAGE_peak_21_at_NEURL_5end
chr10 105253423 105253445 CAGE_peak_15_at_NEURL_5end
chr10 105253452 105253497 CAGE_peak_8_at_NEURL_5end
chr10 105253535 105253604 CAGE_peak_5_at_NEURL_5end
chr10 105253611 105253627 CAGE_peak_10_at_NEURL_5end
chr10 105253635 105253658 CAGE_peak_11_at_NEURL_5end
chr10 105253661 105253686 CAGE_peak_13_at_NEURL_5end
chr10 105253790 105253822 CAGE_peak_19_at_NEURL_5end
chr10 105254031 105254098 CAGE_peak_2_at_NEURL_5end
chr10 105254104 105254135 CAGE_peak_6_at_NEURL_5end
chr10 105314806 105314834 CAGE_peak_12_at_NEURL_5end
chr10 105314881 105314945 CAGE_peak_3_at_NEURL_5end
chr10 105315073 105315096 CAGE_peak_4_at_NEURL_5end
chr10 105315102 105315121 CAGE_peak_9_at_NEURL_5end
chr10 105344681 105344723 CAGE_peak_7_at_NEURL_5end
chr10 105344728 105344737 CAGE_peak_16_at_NEURL_5end
chr10 105344750 105344762 CAGE_peak_14_at_NEURL_5end
chr10 105344771 105344857 CAGE_peak_1_at_NEURL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103689 103689769 103690481 0.31 [{'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'NEURL1', 'score': 10.15}, {'connected_gene': 'RPEL1', 'score': 10.09}, {'connected_gene': 'NEURL1-AS1', 'score': 10.04}, {'connected_gene': 'BORCS7', 'score': 4.41}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.23}]
chr10 GH10I103714 103714330 103718437 1 [{'connected_gene': 'SH3PXD2A', 'score': 12.49}, {'connected_gene': 'NEURL1', 'score': 9.89}, {'connected_gene': 'NEURL1-AS1', 'score': 9.68}, {'connected_gene': 'CALHM1', 'score': 6.0}, {'connected_gene': 'GC10M103742', 'score': 0.31}, {'connected_gene': 'ENSG00000222503', 'score': 0.26}]
chr10 GH10I103621 103621830 103625787 0.43 [{'connected_gene': 'SH3PXD2A', 'score': 21.77}, {'connected_gene': 'NEURL1', 'score': 15.99}, {'connected_gene': 'NEURL1-AS1', 'score': 14.39}, {'connected_gene': 'PIR33697', 'score': 0.77}, {'connected_gene': 'PIR41281', 'score': 0.77}]
chr10 GH10I103635 103635887 103639288 1 [{'connected_gene': 'SH3PXD2A', 'score': 12.37}, {'connected_gene': 'RPEL1', 'score': 12.26}, {'connected_gene': 'NEURL1-AS1', 'score': 10.35}, {'connected_gene': 'NEURL1', 'score': 5.07}, {'connected_gene': 'PIR41281', 'score': 0.44}, {'connected_gene': 'ENSG00000222503', 'score': 0.28}]
chr10 GH10I103628 103628942 103630807 0.46 [{'connected_gene': 'NEURL1', 'score': 10.67}, {'connected_gene': 'SH3PXD2A', 'score': 10.65}, {'connected_gene': 'NEURL1-AS1', 'score': 10.38}, {'connected_gene': 'AS3MT', 'score': 4.29}, {'connected_gene': 'PIR41281', 'score': 0.77}, {'connected_gene': 'ENSG00000222503', 'score': 0.26}]
chr10 GH10I103470 103470393 103473473 1.32 [{'connected_gene': 'NEURL1', 'score': 11.72}, {'connected_gene': 'AS3MT', 'score': 11.13}, {'connected_gene': 'NEURL1-AS1', 'score': 10.36}, {'connected_gene': 'CALHM2', 'score': 10.18}, {'connected_gene': 'RNU11-3P', 'score': 9.21}, {'connected_gene': 'NT5C2', 'score': 1.23}, {'connected_gene': 'CALHM3', 'score': 0.44}, {'connected_gene': 'CALHM1', 'score': 0.39}]
chr10 GH10I103490 103490431 103494401 2.32 [{'connected_gene': 'NEURL1', 'score': 550.77}, {'connected_gene': 'CALHM1', 'score': 11.89}, {'connected_gene': 'PCGF6', 'score': 11.73}, {'connected_gene': 'NEURL1-AS1', 'score': 11.58}, {'connected_gene': 'PDCD11', 'score': 10.43}, {'connected_gene': 'CALHM3', 'score': 0.39}]
chr10 GH10I103583 103583608 103585769 1.02 [{'connected_gene': 'NEURL1', 'score': 10.71}, {'connected_gene': 'NEURL1-AS1', 'score': 10.55}, {'connected_gene': 'SH3PXD2A', 'score': 5.51}, {'connected_gene': 'GC10P103582', 'score': 0.77}, {'connected_gene': 'PIR50603', 'score': 0.44}]
chr10 GH10I103569 103569275 103573848 0.83 [{'connected_gene': 'NEURL1', 'score': 5.38}, {'connected_gene': 'NEURL1-AS1', 'score': 4.31}, {'connected_gene': 'ITPRIP', 'score': 4.16}, {'connected_gene': 'GC10P103582', 'score': 0.39}, {'connected_gene': 'ENSG00000226431', 'score': 0.34}]
chr10 GH10I103578 103578375 103581708 1.09 [{'connected_gene': 'NEURL1', 'score': 16.18}, {'connected_gene': 'NEURL1-AS1', 'score': 15.1}, {'connected_gene': 'CALHM2', 'score': 4.88}, {'connected_gene': 'STN1', 'score': 4.69}, {'connected_gene': 'GC10P103582', 'score': 0.77}, {'connected_gene': 'ENSG00000226431', 'score': 0.29}]
chr10 GH10I103500 103500564 103500713 0.4 [{'connected_gene': 'NEURL1', 'score': 0.44}, {'connected_gene': 'NEURL1-AS1', 'score': 0.37}]
chr10 GH10I103497 103497126 103498230 0.2 [{'connected_gene': 'NEURL1', 'score': 0.77}, {'connected_gene': 'NEURL1-AS1', 'score': 0.37}]
chr10 GH10I103499 103499250 103500502 0.79 [{'connected_gene': 'NEURL1', 'score': 0.44}, {'connected_gene': 'NEURL1-AS1', 'score': 0.37}]
chr10 GH10I103563 103563368 103566032 0.65 [{'connected_gene': 'ITPRIP', 'score': 4.98}, {'connected_gene': 'NEURL1', 'score': 4.11}, {'connected_gene': 'SFXN2', 'score': 4.05}, {'connected_gene': 'ENSG00000226431', 'score': 0.37}, {'connected_gene': 'GC10P103582', 'score': 0.37}]
chr10 GH10I103526 103526154 103529453 1.04 [{'connected_gene': 'PCGF6', 'score': 20.83}, {'connected_gene': 'PDCD11', 'score': 18.85}, {'connected_gene': 'ENSG00000260461', 'score': 15.01}, {'connected_gene': 'NEURL1', 'score': 11.48}, {'connected_gene': 'ENSG00000234699', 'score': 10.84}, {'connected_gene': 'CALHM2', 'score': 10.83}, {'connected_gene': 'SH3PXD2A', 'score': 10.26}, {'connected_gene': 'CALHM1', 'score': 9.86}, {'connected_gene': 'NEURL1-AS1', 'score': 6.83}, {'connected_gene': 'ENSG00000226431', 'score': 0.34}]
chr10 GH10I103541 103541969 103544119 1.39 [{'connected_gene': 'CALHM2', 'score': 6.29}, {'connected_gene': 'GSTO1', 'score': 4.66}, {'connected_gene': 'ENSG00000226431', 'score': 0.44}, {'connected_gene': 'NEURL1-AS1', 'score': 0.31}, {'connected_gene': 'NEURL1', 'score': 0.25}]
chr10 GH10I103554 103554366 103558060 1.49 [{'connected_gene': 'ARL3', 'score': 4.25}, {'connected_gene': 'ENSG00000226431', 'score': 0.44}, {'connected_gene': 'GC10P103582', 'score': 0.31}, {'connected_gene': 'NEURL1', 'score': 0.21}]
chr10 GH10I103434 103434236 103434431 0.31 [{'connected_gene': 'CALHM1', 'score': 12.43}, {'connected_gene': 'NEURL1', 'score': 11.2}, {'connected_gene': 'ATP5MD', 'score': 10.38}, {'connected_gene': 'PDCD11', 'score': 10.38}, {'connected_gene': 'MIR1307', 'score': 10.38}, {'connected_gene': 'NEURL1-AS1', 'score': 10.33}, {'connected_gene': 'CALHM2', 'score': 10.24}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103432 103432128 103432481 0.43 [{'connected_gene': 'CALHM1', 'score': 12.15}, {'connected_gene': 'NEURL1', 'score': 11.59}, {'connected_gene': 'ATP5MD', 'score': 11.06}, {'connected_gene': 'PDCD11', 'score': 11.06}, {'connected_gene': 'MIR1307', 'score': 11.06}, {'connected_gene': 'NEURL1-AS1', 'score': 10.67}, {'connected_gene': 'RNU11-3P', 'score': 9.68}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103433 103433984 103434133 0.2 [{'connected_gene': 'CALHM1', 'score': 12.54}, {'connected_gene': 'NEURL1', 'score': 11.48}, {'connected_gene': 'ATP5MD', 'score': 11.04}, {'connected_gene': 'PDCD11', 'score': 11.04}, {'connected_gene': 'MIR1307', 'score': 11.04}, {'connected_gene': 'NEURL1-AS1', 'score': 10.33}, {'connected_gene': 'RNU11-3P', 'score': 9.72}, {'connected_gene': 'ENSG00000273485', 'score': 0.37}, {'connected_gene': 'GC10M103406', 'score': 0.31}]
chr10 GH10I103504 103504033 103505184 1.45 [{'connected_gene': 'PDCD11', 'score': 24.13}, {'connected_gene': 'ENSG00000260461', 'score': 23.81}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'PCGF6', 'score': 10.47}, {'connected_gene': 'TAF5', 'score': 10.24}, {'connected_gene': 'NEURL1-AS1', 'score': 0.39}, {'connected_gene': 'NEURL1', 'score': 0.39}]
chr10 GH10I103502 103502418 103503979 0.65 [{'connected_gene': 'PDCD11', 'score': 15.78}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'NEURL1-AS1', 'score': 11.44}, {'connected_gene': 'ENSG00000260461', 'score': 10.63}, {'connected_gene': 'TAF5', 'score': 10.24}, {'connected_gene': 'NEURL1', 'score': 0.44}]
chr10 GH10I103482 103482024 103482193 1 [{'connected_gene': 'CALHM3', 'score': 0.77}, {'connected_gene': 'NEURL1', 'score': 0.39}, {'connected_gene': 'NEURL1-AS1', 'score': 0.28}]
chr10 GH10I103479 103479067 103479983 1.24 [{'connected_gene': 'CALHM3', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 9.04}, {'connected_gene': 'NEURL1', 'score': 0.39}, {'connected_gene': 'NEURL1-AS1', 'score': 0.28}]
chr10 GH10I103480 103480318 103481081 0.43 [{'connected_gene': 'CALHM3', 'score': 550.77}, {'connected_gene': 'CALHM2', 'score': 7.89}, {'connected_gene': 'AS3MT', 'score': 5.84}, {'connected_gene': 'NEURL1', 'score': 0.39}, {'connected_gene': 'NEURL1-AS1', 'score': 0.28}]
chr10 GH10I103560 103560141 103561032 0.43 [{'connected_gene': 'BORCS7', 'score': 4.43}, {'connected_gene': 'ENSG00000226431', 'score': 0.39}, {'connected_gene': 'GC10P103582', 'score': 0.34}, {'connected_gene': 'NEURL1', 'score': 0.2}]
chr10 GH10I103576 103576924 103577778 1.02 [{'connected_gene': 'NEURL1-AS1', 'score': 11.11}, {'connected_gene': 'NEURL1', 'score': 10.9}, {'connected_gene': 'SH3PXD2A', 'score': 5.02}, {'connected_gene': 'GC10P103582', 'score': 0.44}, {'connected_gene': 'ENSG00000226431', 'score': 0.31}]
chr10 GH10I103506 103506957 103508867 0.76 [{'connected_gene': 'NEURL1-AS1', 'score': 10.29}, {'connected_gene': 'NEURL1', 'score': 0.39}]
chr10 GH10I103567 103567408 103568529 0.51 [{'connected_gene': 'NEURL1-AS1', 'score': 4.31}, {'connected_gene': 'GC10P103582', 'score': 0.39}, {'connected_gene': 'ENSG00000226431', 'score': 0.37}, {'connected_gene': 'NEURL1', 'score': 0.19}]
chr10 GH10I103485 103485631 103486691 0.97 [{'connected_gene': 'NEURL1-AS1', 'score': 6.03}, {'connected_gene': 'AS3MT', 'score': 5.97}, {'connected_gene': 'CALHM3', 'score': 0.44}, {'connected_gene': 'NEURL1', 'score': 0.44}]
chr10 GH10I103510 103510188 103516213 1.12 [{'connected_gene': 'NEURL1-AS1', 'score': 11.02}, {'connected_gene': 'GSTO2', 'score': 5.36}, {'connected_gene': 'SH3PXD2A', 'score': 4.93}, {'connected_gene': 'NEURL1', 'score': 0.37}]
chr10 GH10I103505 103505507 103506737 0.31 [{'connected_gene': 'NEURL1-AS1', 'score': 10.58}, {'connected_gene': 'BORCS7', 'score': 5.54}, {'connected_gene': 'NEURL1', 'score': 0.39}]
chr10 GH10I103625 103625797 103626632 0.2 [{'connected_gene': 'PIR41281', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 21.55}, {'connected_gene': 'NEURL1', 'score': 10.67}, {'connected_gene': 'NEURL1-AS1', 'score': 10.39}, {'connected_gene': 'PIR33697', 'score': 0.44}]
chr10 GH10I103612 103612013 103614123 0.92 [{'connected_gene': 'PIR45243', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 10.98}, {'connected_gene': 'NEURL1', 'score': 9.98}, {'connected_gene': 'ENSG00000273108', 'score': 0.77}]
chr10 GH10I103547 103547704 103547838 0.73 [{'connected_gene': 'ENSG00000226431', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 4.68}, {'connected_gene': 'NEURL1-AS1', 'score': 0.29}, {'connected_gene': 'NEURL1', 'score': 0.23}]
chr10 GH10I103610 103610974 103611671 0.31 [{'connected_gene': 'PIR45243', 'score': 550.77}, {'connected_gene': 'NEURL1', 'score': 9.98}, {'connected_gene': 'ENSG00000273108', 'score': 0.77}, {'connected_gene': 'SH3PXD2A', 'score': 0.07}]
chr10 GH10I103551 103551443 103552463 0.83 [{'connected_gene': 'ENSG00000226431', 'score': 6.93}, {'connected_gene': 'NEURL1', 'score': 4.66}, {'connected_gene': 'BORCS7', 'score': 4.61}, {'connected_gene': 'GC10P103582', 'score': 0.29}]
chr10 GH10I103587 103587908 103593660 0.67 [{'connected_gene': 'PIR50603', 'score': 550.77}, {'connected_gene': 'NEURL1', 'score': 10.7}, {'connected_gene': 'NEURL1-AS1', 'score': 10.54}, {'connected_gene': 'SH3PXD2A', 'score': 8.6}, {'connected_gene': 'GC10P103582', 'score': 0.44}]
chr10 GH10I103548 103548780 103550277 0.69 [{'connected_gene': 'ENSG00000226431', 'score': 556.47}, {'connected_gene': 'NEURL1', 'score': 15.99}, {'connected_gene': 'NEURL1-AS1', 'score': 11.55}, {'connected_gene': 'GC10P103582', 'score': 0.29}]
chr10 GH10I103558 103558801 103559000 0.4 [{'connected_gene': 'ENSG00000226431', 'score': 0.44}, {'connected_gene': 'GC10P103582', 'score': 0.34}, {'connected_gene': 'NEURL1', 'score': 0.2}]
chr10 GH10I103559 103559201 103559400 0.4 [{'connected_gene': 'ENSG00000226431', 'score': 0.39}, {'connected_gene': 'GC10P103582', 'score': 0.34}, {'connected_gene': 'NEURL1', 'score': 0.2}]
chr10 GH10I103691 103691402 103691832 1.29 [{'connected_gene': 'ENSG00000260461', 'score': 19.79}, {'connected_gene': 'PCGF6', 'score': 18.95}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'NEURL1', 'score': 10.15}, {'connected_gene': 'NEURL1-AS1', 'score': 9.95}, {'connected_gene': 'INA', 'score': 1.62}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.23}]
chr10 GH10I103121 103121464 103121653 0.85 [{'connected_gene': 'PIR32358', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 43.85}, {'connected_gene': 'INA', 'score': 10.51}, {'connected_gene': 'RNU11-3P', 'score': 9.74}, {'connected_gene': 'NEURL1', 'score': 9.08}, {'connected_gene': 'GC10M103094', 'score': 0.34}, {'connected_gene': 'NT5C2', 'score': 0.19}]
chr10 GH10I103416 103416744 103416893 0.38 [{'connected_gene': 'ENSG00000234699', 'score': 12.07}, {'connected_gene': 'CALHM2', 'score': 12.07}, {'connected_gene': 'NEURL1', 'score': 11.9}, {'connected_gene': 'ATP5MD', 'score': 11.75}, {'connected_gene': 'PDCD11', 'score': 11.75}, {'connected_gene': 'MIR1307', 'score': 11.75}, {'connected_gene': 'CALHM1', 'score': 11.5}, {'connected_gene': 'NEURL1-AS1', 'score': 11.01}, {'connected_gene': 'GC10M103406', 'score': 0.44}, {'connected_gene': 'ENSG00000273485', 'score': 0.29}]
chr10 GH10I103417 103416924 103417113 0.54 [{'connected_gene': 'ENSG00000234699', 'score': 12.07}, {'connected_gene': 'CALHM2', 'score': 12.07}, {'connected_gene': 'NEURL1', 'score': 11.9}, {'connected_gene': 'ATP5MD', 'score': 11.75}, {'connected_gene': 'PDCD11', 'score': 11.75}, {'connected_gene': 'MIR1307', 'score': 11.75}, {'connected_gene': 'CALHM1', 'score': 11.5}, {'connected_gene': 'NEURL1-AS1', 'score': 11.01}, {'connected_gene': 'GC10M103406', 'score': 0.39}, {'connected_gene': 'ENSG00000273485', 'score': 0.29}]
chr10 GH10I103605 103605763 103606089 0.76 [{'connected_gene': 'PIR35201', 'score': 550.77}, {'connected_gene': 'NEURL1-AS1', 'score': 10.33}, {'connected_gene': 'NEURL1', 'score': 10.14}, {'connected_gene': 'ENSG00000273108', 'score': 0.77}, {'connected_gene': 'SH3PXD2A', 'score': 0.07}]
chr10 GH10I103614 103614159 103621243 1.34 [{'connected_gene': 'PIR33697', 'score': 550.77}, {'connected_gene': 'GC10M103620', 'score': 550.77}, {'connected_gene': 'PIR62337', 'score': 550.77}, {'connected_gene': 'NEURL1-AS1', 'score': 10.46}, {'connected_gene': 'NEURL1', 'score': 9.98}, {'connected_gene': 'CALHM2', 'score': 5.77}, {'connected_gene': 'SH3PXD2A', 'score': 4.5}, {'connected_gene': 'PIR45243', 'score': 0.77}]
chr10 GH10I103609 103609780 103610483 0.46 [{'connected_gene': 'ENSG00000273108', 'score': 550.77}, {'connected_gene': 'NEURL1-AS1', 'score': 10.48}, {'connected_gene': 'NEURL1', 'score': 10.14}, {'connected_gene': 'RNU11-3P', 'score': 9.54}, {'connected_gene': 'PIR45243', 'score': 0.77}, {'connected_gene': 'SH3PXD2A', 'score': 0.07}]
chr10 GH10I103545 103545904 103545993 0.74 [{'connected_gene': 'ENSG00000226431', 'score': 0.77}, {'connected_gene': 'NEURL1-AS1', 'score': 0.31}, {'connected_gene': 'NEURL1', 'score': 0.23}]

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