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
ENST00000367505 [[146205942, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146285292, 146285525]] [[146207826, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
ENST00000367503 [[146205946, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146284866, 146285233]] [[146207826, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
ENST00000438092 [[146205948, 146207576], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146284866, 146285233]] [[146207563, 146207576], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
ENST00000275233 [[146206628, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146284866, 146285233]] [[146207826, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
ENST00000433355 [[146224391, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266792], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276392]] [[146266697, 146266792], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276392]]
ENST00000519632 [[146238248, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254185, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146275989], [146276322, 146276490], [146285292, 146285559]] [[146248409, 146248413], [146254185, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146275989], [146276322, 146276458]]
ENST00000417762 [[146185380, 146185627], [146209155, 146209236], [146214350, 146214490]] [[146185458, 146185627], [146209155, 146209236], [146214350, 146214490]]
ENST00000523276 [[146239552, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248472]] None
ENST00000520752 [[146256043, 146256299], [146256413, 146256978]] None
ENST00000521977 [[146266695, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146272926, 146273059], [146273484, 146273614], [146275825, 146275853]] [[146271617, 146271618], [146272926, 146273059], [146273484, 146273614], [146275825, 146275853]]
NM_173082 [[146205942, 146207576], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146284866, 146285233]] [[146207563, 146207576], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243957], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254341], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
NM_001042683 [[146205942, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276490], [146284866, 146285233]] [[146207826, 146207923], [146209155, 146209236], [146214350, 146214529], [146215285, 146215372], [146216020, 146216113], [146231583, 146231772], [146234613, 146234685], [146239266, 146239368], [146240483, 146240627], [146242302, 146242528], [146243421, 146243484], [146243798, 146243972], [146244778, 146244921], [146245874, 146245982], [146247339, 146247432], [146248324, 146248413], [146254192, 146254314], [146256042, 146256299], [146256413, 146256577], [146261858, 146261937], [146262758, 146263010], [146264278, 146264938], [146266516, 146266773], [146267368, 146267477], [146268628, 146268779], [146269407, 146269486], [146271399, 146271618], [146273484, 146273614], [146275825, 146276458]]
Promoter
Chrom Start End Description
chr6 146285221 146285246 CAGE_peak_2_at_SHPRH_5end
chr6 146285400 146285407 CAGE_peak_6_at_SHPRH_5end
chr6 146285425 146285438 CAGE_peak_5_at_SHPRH_5end
chr6 146285455 146285528 CAGE_peak_1_at_SHPRH_5end
chr6 146285553 146285575 CAGE_peak_3_at_SHPRH_5end
chr6 146285576 146285585 CAGE_peak_8_at_SHPRH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I145812 145812308 145816431 2.09 [{'connected_gene': 'FBXO30', 'score': 550.77}, {'connected_gene': 'SHPRH', 'score': 19.79}, {'connected_gene': 'LOC100507557', 'score': 18.29}, {'connected_gene': 'KATNBL1P6', 'score': 9.75}, {'connected_gene': 'ENSG00000280184', 'score': 0.34}]
chr6 GH06I145882 145882405 145882554 0.2 [{'connected_gene': 'FBXO30', 'score': 11.58}, {'connected_gene': 'LOC100507557', 'score': 11.48}, {'connected_gene': 'GC06P145874', 'score': 0.44}, {'connected_gene': 'GC06M145895', 'score': 0.39}, {'connected_gene': 'SHPRH', 'score': 0.18}]
chr6 GH06I146912 146912497 146917484 2.07 [{'connected_gene': 'STXBP5-AS1', 'score': 20.73}, {'connected_gene': 'SHPRH', 'score': 19.71}, {'connected_gene': 'ADGB', 'score': 6.76}, {'connected_gene': 'STXBP5', 'score': 4.73}, {'connected_gene': 'RAB32', 'score': 2.84}, {'connected_gene': 'ENSG00000272397', 'score': 0.28}, {'connected_gene': 'LOC105378042', 'score': 0.22}]
chr6 GH06I146883 146883594 146886257 1.37 [{'connected_gene': 'KATNBL1P6', 'score': 12.55}, {'connected_gene': 'SHPRH', 'score': 9.93}, {'connected_gene': 'STXBP5-AS1', 'score': 6.94}, {'connected_gene': 'STXBP5', 'score': 6.88}, {'connected_gene': 'LOC105378042', 'score': 0.31}, {'connected_gene': 'ENSG00000272397', 'score': 0.2}]
chr6 GH06I146891 146891168 146893366 1.37 [{'connected_gene': 'SHPRH', 'score': 27.78}, {'connected_gene': 'STXBP5-AS1', 'score': 19.28}, {'connected_gene': 'KATNBL1P6', 'score': 12.54}, {'connected_gene': 'STXBP5', 'score': 5.88}, {'connected_gene': 'LOC105378042', 'score': 0.29}, {'connected_gene': 'ENSG00000272397', 'score': 0.22}]
chr6 GH06I146887 146887502 146889846 0.93 [{'connected_gene': 'SHPRH', 'score': 19.72}, {'connected_gene': 'STXBP5-AS1', 'score': 19.41}, {'connected_gene': 'STXBP5', 'score': 5.67}, {'connected_gene': 'LOC105378042', 'score': 0.29}, {'connected_gene': 'ENSG00000272397', 'score': 0.21}]
chr6 GH06I146875 146875523 146880336 1.72 [{'connected_gene': 'SHPRH', 'score': 19.71}, {'connected_gene': 'STXBP5-AS1', 'score': 4.76}, {'connected_gene': 'STXBP5', 'score': 2.73}, {'connected_gene': 'LOC105378042', 'score': 0.34}, {'connected_gene': 'ENSG00000272397', 'score': 0.19}]
chr6 GH06I146874 146874358 146875220 0.56 [{'connected_gene': 'SHPRH', 'score': 19.71}, {'connected_gene': 'STXBP5-AS1', 'score': 19.44}, {'connected_gene': 'LOC105378042', 'score': 0.37}, {'connected_gene': 'ENSG00000272397', 'score': 0.18}]
chr6 GH06I145962 145962656 145965747 2.04 [{'connected_gene': 'SHPRH', 'score': 550.77}, {'connected_gene': 'GRM1', 'score': 550.77}, {'connected_gene': 'LOC100507557', 'score': 15.38}, {'connected_gene': 'GC06M145895', 'score': 0.2}]
chr6 GH06I145961 145961365 145961394 0.2 [{'connected_gene': 'SHPRH', 'score': 0.77}, {'connected_gene': 'GC06M145895', 'score': 0.21}]
chr6 GH06I146542 146542922 146547769 2.31 [{'connected_gene': 'RAB32', 'score': 553.9}, {'connected_gene': 'SHPRH', 'score': 15.79}, {'connected_gene': 'LOC101928661', 'score': 10.89}, {'connected_gene': 'ADGB', 'score': 10.89}, {'connected_gene': 'GC06M146554', 'score': 0.44}]
chr6 GH06I145890 145890862 145892292 0.52 [{'connected_gene': 'LOC100507557', 'score': 26.71}, {'connected_gene': 'FBXO30', 'score': 11.08}, {'connected_gene': 'GC06M145895', 'score': 0.44}, {'connected_gene': 'GC06P145874', 'score': 0.37}, {'connected_gene': 'SHPRH', 'score': 0.19}]
chr6 GH06I145482 145482494 145484459 0.59 [{'connected_gene': 'LOC100507557', 'score': 10.01}, {'connected_gene': 'EPM2A', 'score': 8.18}, {'connected_gene': 'SHPRH', 'score': 4.18}, {'connected_gene': 'LOC645749', 'score': 0.44}, {'connected_gene': 'RNU1-33P', 'score': 0.34}, {'connected_gene': 'GC06M145464', 'score': 0.34}]
chr6 GH06I145733 145733617 145737579 2.1 [{'connected_gene': 'LOC100507557', 'score': 567.96}, {'connected_gene': 'EPM2A', 'score': 557.45}, {'connected_gene': 'ENSG00000270638', 'score': 550.77}, {'connected_gene': 'ENSG00000270828', 'score': 550.77}, {'connected_gene': 'SHPRH', 'score': 22.78}]
chr6 GH06I145863 145863601 145868206 0.89 [{'connected_gene': 'LOC100507557', 'score': 19.43}, {'connected_gene': 'EPM2A', 'score': 6.76}, {'connected_gene': 'GC06P145874', 'score': 0.44}, {'connected_gene': 'GC06P145856', 'score': 0.44}, {'connected_gene': 'SHPRH', 'score': 0.15}]
chr6 GH06I145543 145543695 145545204 0.38 [{'connected_gene': 'LOC100507557', 'score': 15.64}, {'connected_gene': 'SHPRH', 'score': 5.52}, {'connected_gene': 'GC06M145570', 'score': 0.34}, {'connected_gene': 'PIR36569', 'score': 0.34}, {'connected_gene': 'LOC645749', 'score': 0.23}, {'connected_gene': 'EPM2A', 'score': 0.08}]
chr6 GH06I145668 145668771 145670671 0.63 [{'connected_gene': 'LOC100507557', 'score': 17.0}, {'connected_gene': 'SHPRH', 'score': 4.38}, {'connected_gene': 'EPM2A', 'score': 0.2}, {'connected_gene': 'GC06P145589', 'score': 0.18}]
chr6 GH06I145698 145698279 145700460 0.49 [{'connected_gene': 'LOC100507557', 'score': 17.75}, {'connected_gene': 'SHPRH', 'score': 4.38}, {'connected_gene': 'EPM2A', 'score': 0.28}, {'connected_gene': 'GC06P145589', 'score': 0.14}]
chr6 GH06I145905 145905000 145905201 0.46 [{'connected_gene': 'GC06M145895', 'score': 0.44}, {'connected_gene': 'SHPRH', 'score': 0.22}]

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