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
ENST00000282470 [[88394486, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420737], [88450196, 88450656]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000418378 [[88394499, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420737], [88425973, 88426075], [88450196, 88450655]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000503414 [[88394569, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88418282, 88418391], [88420672, 88420737], [88450196, 88450244]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415576]]
ENST00000541496 [[88415520, 88415750], [88416132, 88416295], [88420672, 88420737], [88450196, 88450556]] [[88415520, 88415576]]
ENST00000509407 [[88415520, 88415750], [88416132, 88416279], [88420672, 88420737], [88450196, 88450253], [88452129, 88452213]] [[88415520, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000434434 [[88415527, 88415750], [88416132, 88416279], [88420672, 88420737], [88425973, 88426075], [88450196, 88450609]] [[88415527, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000535835 [[88415568, 88415750], [88416132, 88416279], [88420672, 88420737], [88425973, 88426075], [88449706, 88449771]] [[88415568, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000512317 [[88415591, 88415750], [88416132, 88416279], [88420672, 88420737], [88450196, 88450253], [88451696, 88451783], [88452129, 88452201]] [[88415591, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000543631 [[88415684, 88415750], [88416132, 88416279], [88420672, 88420737], [88449277, 88449385], [88450196, 88450393]] [[88415684, 88415750], [88416132, 88416279], [88420672, 88420726]]
ENST00000458304 [[88416164, 88416279], [88420672, 88420737], [88449706, 88449766], [88450196, 88450524]] [[88416164, 88416279], [88420672, 88420726]]
NM_001291977 [[88394481, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415717], [88437439, 88437444], [88450196, 88450655]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415576]]
NM_001128310 [[88394481, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420737], [88425973, 88426075], [88450196, 88450655]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420726]]
NM_001291976 [[88394481, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88418282, 88418391], [88420672, 88420737], [88450196, 88450655]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415576]]
NM_004684 [[88394481, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420737], [88450196, 88450655]] [[88394926, 88394955], [88400581, 88400730], [88401523, 88401672], [88403575, 88403712], [88411424, 88411545], [88411911, 88412030], [88412769, 88412842], [88414733, 88415750], [88416132, 88416279], [88420672, 88420726]]
Promoter
Chrom Start End Description
chr4 88420698 88420726 CAGE_peak_10_at_SPARCL1_5end
chr4 88449898 88449925 CAGE_peak_14_at_SPARCL1_5end
chr4 88450273 88450287 CAGE_peak_5_at_SPARCL1_5end
chr4 88450351 88450368 CAGE_peak_2_at_SPARCL1_5end
chr4 88450372 88450424 CAGE_peak_3_at_SPARCL1_5end
chr4 88450428 88450439 CAGE_peak_9_at_SPARCL1_5end
chr4 88450448 88450459 CAGE_peak_7_at_SPARCL1_5end
chr4 88450511 88450533 CAGE_peak_1_at_SPARCL1_5end
chr4 88450535 88450561 CAGE_peak_4_at_SPARCL1_5end
chr4 88450595 88450608 CAGE_peak_6_at_SPARCL1_5end
chr4 88450612 88450623 CAGE_peak_8_at_SPARCL1_5end
chr4 88451026 88451042 CAGE_peak_15_at_SPARCL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I087588 87588929 87590298 0.89 [{'connected_gene': 'DMP1', 'score': 10.71}, {'connected_gene': 'SPARCL1', 'score': 10.26}, {'connected_gene': 'MEPE', 'score': 10.18}, {'connected_gene': 'DSPP', 'score': 0.37}, {'connected_gene': 'ENSG00000249001', 'score': 0.11}]
chr4 GH04I087679 87679089 87680880 0.65 [{'connected_gene': 'DMP1', 'score': 11.08}, {'connected_gene': 'DSPP', 'score': 10.2}, {'connected_gene': 'SPARCL1', 'score': 9.49}, {'connected_gene': 'IBSP', 'score': 4.85}, {'connected_gene': 'ENSG00000249001', 'score': 4.76}, {'connected_gene': 'LOC105377323', 'score': 0.44}]
chr4 GH04I087524 87524861 87531506 1.78 [{'connected_gene': 'SPARCL1', 'score': 569.46}, {'connected_gene': 'DMP1', 'score': 10.13}, {'connected_gene': 'ENSG00000272856', 'score': 5.38}, {'connected_gene': 'MEPE', 'score': 1.9}, {'connected_gene': 'LOC105377322', 'score': 0.44}]
chr4 GH04I087511 87511826 87518663 0.38 [{'connected_gene': 'SPARCL1', 'score': 10.18}, {'connected_gene': 'DMP1', 'score': 10.12}, {'connected_gene': 'HSD17B13', 'score': 6.01}, {'connected_gene': 'ENSG00000272856', 'score': 5.71}, {'connected_gene': 'LOC105377322', 'score': 0.44}, {'connected_gene': 'LOC105377321', 'score': 0.25}]
chr4 GH04I087523 87523158 87523854 0.52 [{'connected_gene': 'SPARCL1', 'score': 11.0}, {'connected_gene': 'DMP1', 'score': 10.13}, {'connected_gene': 'ENSG00000272856', 'score': 5.38}, {'connected_gene': 'LOC105377322', 'score': 0.77}]
chr4 GH04I087531 87531883 87532674 0.38 [{'connected_gene': 'SPARCL1', 'score': 556.63}, {'connected_gene': 'RPL6P13', 'score': 10.33}, {'connected_gene': 'DSPP', 'score': 0.18}]
chr4 GH04I087506 87506310 87508383 0.63 [{'connected_gene': 'SPARCL1', 'score': 19.19}, {'connected_gene': 'HSD17B11', 'score': 6.78}, {'connected_gene': 'HSD17B13', 'score': 5.98}, {'connected_gene': 'LOC105377322', 'score': 0.39}, {'connected_gene': 'LOC105377321', 'score': 0.28}]
chr4 GH04I087502 87502729 87502858 0.76 [{'connected_gene': 'SPARCL1', 'score': 10.12}, {'connected_gene': 'HSD17B11', 'score': 6.77}, {'connected_gene': 'HSD17B13', 'score': 5.55}, {'connected_gene': 'LOC105377322', 'score': 0.37}, {'connected_gene': 'LOC105377321', 'score': 0.29}]
chr4 GH04I087482 87482169 87483090 0.2 [{'connected_gene': 'SPARCL1', 'score': 16.45}, {'connected_gene': 'HSD17B11', 'score': 10.33}, {'connected_gene': 'ENSG00000272856', 'score': 8.07}, {'connected_gene': 'LOC105377321', 'score': 0.39}, {'connected_gene': 'LOC105377322', 'score': 0.28}]
chr4 GH04I087508 87508992 87510152 0.31 [{'connected_gene': 'SPARCL1', 'score': 17.8}, {'connected_gene': 'ENSG00000272856', 'score': 7.81}, {'connected_gene': 'HSD17B13', 'score': 7.36}, {'connected_gene': 'HSD17B11', 'score': 5.62}, {'connected_gene': 'LOC105377322', 'score': 0.39}, {'connected_gene': 'LOC105377321', 'score': 0.26}]
chr4 GH04I087491 87491870 87495100 0.46 [{'connected_gene': 'SPARCL1', 'score': 19.27}, {'connected_gene': 'DSPP', 'score': 9.8}, {'connected_gene': 'ENSG00000272856', 'score': 7.38}, {'connected_gene': 'HSD17B13', 'score': 4.41}, {'connected_gene': 'LOC105377322', 'score': 0.31}, {'connected_gene': 'LOC105377321', 'score': 0.31}]
chr4 GH04I087559 87559589 87559778 0.56 [{'connected_gene': 'SPARCL1', 'score': 10.71}, {'connected_gene': 'DSPP', 'score': 0.25}]
chr4 GH04I087560 87559229 87559378 0.52 [{'connected_gene': 'SPARCL1', 'score': 10.66}, {'connected_gene': 'DSPP', 'score': 0.25}]
chr4 GH04I087555 87555504 87556673 0.72 [{'connected_gene': 'SPARCL1', 'score': 17.56}, {'connected_gene': 'DSPP', 'score': 0.23}]
chr4 GH04I087543 87543108 87544720 0.57 [{'connected_gene': 'SPARCL1', 'score': 10.79}, {'connected_gene': 'DSPP', 'score': 10.61}]
chr4 GH04I087497 87497516 87499571 0.89 [{'connected_gene': 'SPARCL1', 'score': 8.96}, {'connected_gene': 'ENSG00000272856', 'score': 7.87}, {'connected_gene': 'LOC105377322', 'score': 0.34}, {'connected_gene': 'LOC105377321', 'score': 0.29}]
chr4 GH04I087488 87488826 87491648 0.67 [{'connected_gene': 'SPARCL1', 'score': 19.17}, {'connected_gene': 'ENSG00000272856', 'score': 8.57}, {'connected_gene': 'LOC105377321', 'score': 0.34}, {'connected_gene': 'LOC105377322', 'score': 0.29}]
chr4 GH04I087475 87475876 87478059 0.2 [{'connected_gene': 'SPARCL1', 'score': 17.96}, {'connected_gene': 'LOC105377321', 'score': 0.44}, {'connected_gene': 'LOC105377322', 'score': 0.26}]
chr4 GH04I087486 87486882 87486932 0.4 [{'connected_gene': 'SPARCL1', 'score': 11.2}, {'connected_gene': 'LOC105377321', 'score': 0.37}, {'connected_gene': 'LOC105377322', 'score': 0.29}]
chr4 GH04I087478 87478747 87479950 0.2 [{'connected_gene': 'SPARCL1', 'score': 6.09}, {'connected_gene': 'LOC105377321', 'score': 0.39}, {'connected_gene': 'LOC105377322', 'score': 0.26}]
chr4 GH04I087832 87832920 87832979 0.5 [{'connected_gene': 'MEPE', 'score': 550.39}, {'connected_gene': 'IBSP', 'score': 10.58}, {'connected_gene': 'SPARCL1', 'score': 9.26}, {'connected_gene': 'HSP90AB3P', 'score': 0.22}]
chr4 GH04I087539 87539911 87542485 0.96 [{'connected_gene': 'DSPP', 'score': 11.7}, {'connected_gene': 'DMP1', 'score': 10.07}, {'connected_gene': 'SPARCL1', 'score': 8.74}, {'connected_gene': 'ENSG00000272856', 'score': 4.85}, {'connected_gene': 'PTPN13', 'score': 4.53}, {'connected_gene': 'MEPE', 'score': 1.32}]
chr4 GH04I087520 87520201 87522807 1.51 [{'connected_gene': 'LOC105377322', 'score': 550.77}, {'connected_gene': 'SPARCL1', 'score': 14.68}, {'connected_gene': 'DMP1', 'score': 10.13}, {'connected_gene': 'DSPP', 'score': 3.25}]
chr4 GH04I087499 87499679 87500758 0.59 [{'connected_gene': 'ENSG00000272856', 'score': 7.57}, {'connected_gene': 'HSD17B13', 'score': 5.44}, {'connected_gene': 'LOC105377322', 'score': 0.34}, {'connected_gene': 'SPARCL1', 'score': 0.29}, {'connected_gene': 'LOC105377321', 'score': 0.29}]

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