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
ENST00000476133 [[153591262, 153591514], [153598795, 153599009], [153599958, 153600074], [153600596, 153600724]] None
ENST00000339556 [[153591274, 153591514], [153598795, 153599009], [153600596, 153600656]] [[153591370, 153591514], [153598795, 153598948]]
ENST00000392622 [[153591279, 153591514], [153598795, 153599009], [153599426, 153599524]] [[153591370, 153591514], [153598795, 153598948]]
ENST00000392623 [[153591279, 153591514], [153598795, 153599009], [153599614, 153599744]] [[153591370, 153591514], [153598795, 153598948]]
ENST00000440685 [[153591279, 153591514], [153598795, 153599009], [153599958, 153600074], [153600596, 153600715]] [[153591370, 153591514], [153598795, 153598948]]
ENST00000368699 [[153591279, 153591514], [153598795, 153599009], [153603486, 153603587], [153604509, 153604716], [153606433, 153606568]] [[153591370, 153591514], [153598795, 153598948]]
ENST00000491177 [[153591283, 153591514], [153598795, 153600074], [153600596, 153600713], [153602925, 153603132], [153603486, 153603836]] None
NM_001024213 [[153591274, 153591514], [153598795, 153599009], [153599426, 153599524]] [[153591370, 153591514], [153598795, 153598948]]
NM_001024212 [[153591274, 153591514], [153598795, 153599009], [153599614, 153599744]] [[153591370, 153591514], [153598795, 153598948]]
NM_001024211 [[153591274, 153591514], [153598795, 153599009], [153599958, 153600117]] [[153591370, 153591514], [153598795, 153598948]]
NM_005979 [[153591274, 153591514], [153598795, 153599009], [153599958, 153600074], [153600596, 153600715]] [[153591370, 153591514], [153598795, 153598948]]
NM_001024210 [[153591274, 153591514], [153598795, 153599009], [153603486, 153603587], [153604509, 153604716], [153606433, 153606568]] [[153591370, 153591514], [153598795, 153598948]]
Promoter
Chrom Start End Description
chr1 153599367 153599374 CAGE_peak_26_at_S100A13_5end
chr1 153599384 153599395 CAGE_peak_19_at_S100A13_5end
chr1 153599396 153599419 CAGE_peak_10_at_S100A13_5end
chr1 153599426 153599452 CAGE_peak_12_at_S100A13_5end
chr1 153599635 153599646 CAGE_peak_17_at_S100A13_5end
chr1 153599687 153599702 CAGE_peak_14_at_S100A13_5end
chr1 153599706 153599730 CAGE_peak_6_at_S100A13_5end
chr1 153599732 153599803 CAGE_peak_4_at_S100A13_5end
chr1 153599975 153599988 CAGE_peak_1_at_S100A13_5end
chr1 153599994 153600045 CAGE_peak_2_at_S100A13_5end
chr1 153600048 153600077 CAGE_peak_5_at_S100A13_5end
chr1 153600120 153600131 CAGE_peak_9_at_S100A13_5end
chr1 153600707 153600734 CAGE_peak_7_at_S100A13_5end
chr1 153600735 153600746 CAGE_peak_18_at_S100A13_5end
chr1 153606799 153606818 CAGE_peak_8_at_S100A13_5end
chr1 153606825 153606868 CAGE_peak_3_at_S100A13_5end
chr1 153606906 153606911 CAGE_peak_13_at_S100A13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153553 153552846 153552936 0.24 [{'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A16', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.63}, {'connected_gene': 'CHTOP', 'score': 10.62}, {'connected_gene': 'S100A13', 'score': 10.62}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A7L2', 'score': 5.72}, {'connected_gene': 'S100A9', 'score': 2.1}, {'connected_gene': 'PGLYRP3', 'score': 2.03}, {'connected_gene': 'S100A4', 'score': 1.96}, {'connected_gene': 'S100A12', 'score': 1.46}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153596 153596499 153600011 1.22 [{'connected_gene': 'S100A13', 'score': 11.2}, {'connected_gene': 'S100A16', 'score': 10.01}, {'connected_gene': 'GC01P153610', 'score': 0.44}, {'connected_gene': 'PIR44602', 'score': 0.39}]
chr1 GH01I153539 153539541 153551521 2.2 [{'connected_gene': 'S100A3', 'score': 574.01}, {'connected_gene': 'S100A4', 'score': 550.77}, {'connected_gene': 'LOC101928034', 'score': 550.77}, {'connected_gene': 'S100A5', 'score': 550.77}, {'connected_gene': 'S100A16', 'score': 10.82}, {'connected_gene': 'S100A14', 'score': 10.81}, {'connected_gene': 'S100A1', 'score': 10.62}, {'connected_gene': 'CHTOP', 'score': 10.61}, {'connected_gene': 'S100A13', 'score': 10.61}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}]
chr1 GH01I153552 153552973 153554763 1.07 [{'connected_gene': 'S100A3', 'score': 13.91}, {'connected_gene': 'CHTOP', 'score': 12.52}, {'connected_gene': 'S100A13', 'score': 12.35}, {'connected_gene': 'S100A16', 'score': 10.84}, {'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.64}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A9', 'score': 8.74}, {'connected_gene': 'S100A12', 'score': 6.49}, {'connected_gene': 'S100A4', 'score': 3.78}, {'connected_gene': 'S100A8', 'score': 2.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153561 153561172 153569950 2.27 [{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1 GH01I153623 153623001 153623400 0.2 [{'connected_gene': 'S100A1', 'score': 0.77}, {'connected_gene': 'S100A14', 'score': 0.44}, {'connected_gene': 'S100A13', 'score': 0.39}]
chr1 GH01I153626 153626122 153631897 2.21 [{'connected_gene': 'S100A1', 'score': 600.22}, {'connected_gene': 'GC01P153628', 'score': 550.77}, {'connected_gene': 'S100A13', 'score': 550.44}, {'connected_gene': 'NUP210L', 'score': 8.73}, {'connected_gene': 'CHTOP', 'score': 0.77}, {'connected_gene': 'ENSG00000271853', 'score': 0.44}, {'connected_gene': 'ENSG00000272030', 'score': 0.44}]
chr1 GH01I153733 153733766 153735980 0.99 [{'connected_gene': 'S100A1', 'score': 23.78}, {'connected_gene': 'ILF2', 'score': 11.58}, {'connected_gene': 'NPR1', 'score': 11.48}, {'connected_gene': 'SNAPIN', 'score': 10.57}, {'connected_gene': 'CHTOP', 'score': 10.04}, {'connected_gene': 'S100A13', 'score': 10.04}, {'connected_gene': 'C1orf189', 'score': 8.5}, {'connected_gene': 'INTS3', 'score': 0.44}, {'connected_gene': 'ENSG00000243613', 'score': 0.37}]
chr1 GH01I153489 153489797 153491857 1.31 [{'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.26}, {'connected_gene': 'S100A1', 'score': 10.14}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'RN7SL44P', 'score': 7.32}, {'connected_gene': 'S100A3', 'score': 6.01}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1 GH01I154556 154556071 154560050 2.12 [{'connected_gene': 'UBE2Q1', 'score': 550.77}, {'connected_gene': 'CLK2', 'score': 31.64}, {'connected_gene': 'UBAP2L', 'score': 24.11}, {'connected_gene': 'SLC27A3', 'score': 21.76}, {'connected_gene': 'INTS3', 'score': 21.33}, {'connected_gene': 'THBS3', 'score': 20.98}, {'connected_gene': 'CHTOP', 'score': 20.47}, {'connected_gene': 'RUSC1-AS1', 'score': 19.23}, {'connected_gene': 'KRTCAP2', 'score': 18.15}, {'connected_gene': 'CRTC2', 'score': 18.13}, {'connected_gene': 'SHC1', 'score': 13.04}, {'connected_gene': 'ILF2', 'score': 11.44}, {'connected_gene': 'FLAD1', 'score': 11.36}, {'connected_gene': 'CREB3L4', 'score': 10.87}, {'connected_gene': 'LOC101928120', 'score': 10.75}, {'connected_gene': 'LOC343052', 'score': 10.21}, {'connected_gene': 'GBAP1', 'score': 10.11}, {'connected_gene': 'DPM3', 'score': 9.83}, {'connected_gene': 'IL6R', 'score': 8.28}, {'connected_gene': 'CHRNB2', 'score': 6.42}, {'connected_gene': 'S100A13', 'score': 5.08}, {'connected_gene': 'UBE2Q1-AS1', 'score': 0.77}]
chr1 GH01I153677 153677601 153680894 1.87 [{'connected_gene': 'NPR1', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 14.32}, {'connected_gene': 'SLC27A3', 'score': 12.49}, {'connected_gene': 'CRTC2', 'score': 11.89}, {'connected_gene': 'CHTOP', 'score': 11.38}, {'connected_gene': 'S100A13', 'score': 4.67}, {'connected_gene': 'MIR8083', 'score': 0.39}]
chr1 GH01I153577 153577722 153579717 0.77 [{'connected_gene': 'S100A16', 'score': 11.49}, {'connected_gene': 'S100A14', 'score': 11.47}, {'connected_gene': 'S100A1', 'score': 11.29}, {'connected_gene': 'S100A13', 'score': 11.27}, {'connected_gene': 'CHTOP', 'score': 11.27}, {'connected_gene': 'S100A3', 'score': 10.59}, {'connected_gene': 'SNAPIN', 'score': 10.47}, {'connected_gene': 'ILF2', 'score': 10.27}, {'connected_gene': 'NPR1', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.93}, {'connected_gene': 'ENSG00000243613', 'score': 9.93}, {'connected_gene': 'INTS3', 'score': 9.83}, {'connected_gene': 'PGLYRP4', 'score': 9.3}, {'connected_gene': 'RNU6-160P', 'score': 9.07}, {'connected_gene': 'PIR44602', 'score': 0.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153606 153606662 153618256 2.74 [{'connected_gene': 'S100A16', 'score': 556.78}, {'connected_gene': 'S100A14', 'score': 553.15}, {'connected_gene': 'S100A1', 'score': 34.99}, {'connected_gene': 'SNAPIN', 'score': 10.72}, {'connected_gene': 'ILF2', 'score': 10.44}, {'connected_gene': 'ENSG00000233222', 'score': 9.39}, {'connected_gene': 'ENSG00000243613', 'score': 9.39}, {'connected_gene': 'INTS3', 'score': 9.23}, {'connected_gene': 'S100A13', 'score': 4.77}, {'connected_gene': 'ENSG00000272030', 'score': 4.4}, {'connected_gene': 'S100A6', 'score': 2.92}, {'connected_gene': 'S100A2', 'score': 2.76}, {'connected_gene': 'S100A7L2', 'score': 1.7}, {'connected_gene': 'PGLYRP4', 'score': 1.66}, {'connected_gene': 'PGLYRP3', 'score': 1.55}, {'connected_gene': 'S100A7A', 'score': 1.27}, {'connected_gene': 'GC01P153610', 'score': 0.44}, {'connected_gene': 'GC01M153608', 'score': 0.44}, {'connected_gene': 'GC01M153607', 'score': 0.44}]
chr1 GH01I153632 153632734 153637132 2.09 [{'connected_gene': 'CHTOP', 'score': 571.47}, {'connected_gene': 'ENSG00000271853', 'score': 550.77}, {'connected_gene': 'S100A13', 'score': 550.77}, {'connected_gene': 'ENSG00000272030', 'score': 550.77}, {'connected_gene': 'S100A1', 'score': 55.06}, {'connected_gene': 'CRTC2', 'score': 18.16}, {'connected_gene': 'UBAP2L', 'score': 13.36}, {'connected_gene': 'SLC27A3', 'score': 13.1}, {'connected_gene': 'INTS3', 'score': 11.95}, {'connected_gene': 'ILF2', 'score': 11.7}, {'connected_gene': 'ENSG00000238279', 'score': 11.14}, {'connected_gene': 'LOC343052', 'score': 10.28}, {'connected_gene': 'NUP210L', 'score': 8.45}, {'connected_gene': 'SPRR2D', 'score': 4.57}, {'connected_gene': 'SNAPIN', 'score': 0.34}]
chr1 GH01I153492 153492583 153494659 0.43 [{'connected_gene': 'RN7SL44P', 'score': 12.87}, {'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.6}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A1', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1 GH01I153586 153586565 153587949 0.49 [{'connected_gene': 'PIR44602', 'score': 550.77}, {'connected_gene': 'CRTC2', 'score': 19.33}, {'connected_gene': 'SLC27A3', 'score': 14.99}, {'connected_gene': 'UBAP2L', 'score': 14.86}, {'connected_gene': 'CHTOP', 'score': 14.76}, {'connected_gene': 'CREB3L4', 'score': 13.38}, {'connected_gene': 'INTS3', 'score': 12.05}, {'connected_gene': 'ENSG00000238279', 'score': 10.86}, {'connected_gene': 'S100A13', 'score': 10.83}, {'connected_gene': 'ILF2', 'score': 10.45}, {'connected_gene': 'SPRR3', 'score': 4.59}, {'connected_gene': 'HAX1', 'score': 4.11}, {'connected_gene': 'GC01P153610', 'score': 0.37}]

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