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
ENST00000370859 [[75667815, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007201], [76076724, 76076801]] [[75669411, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007132]]
ENST00000370855 [[75670159, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007201], [76076724, 76076769]] [[75672291, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007132]]
ENST00000535611 [[75671952, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75766296, 75766370], [75805266, 75805315], [75862267, 75862321]] [[75672291, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708651]]
ENST00000469525 [[75708604, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75777299, 75777390], [75805266, 75805315], [75862267, 75862306], [75864039, 75864106], [76007119, 76007201], [76076724, 76076781]] None
NM_001130058 [[75667815, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007201], [76076724, 76076799]] [[75669411, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007132]]
NM_001320285 [[75667816, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75777299, 75777390], [75805266, 75805315], [75862267, 75862306], [75864039, 75864106], [76007119, 76007201], [76076724, 76076801]] [[75669411, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766345]]
NM_001320287 [[75667816, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75777299, 75777390], [75805266, 75805315], [75862267, 75862306], [76007119, 76007201], [76076724, 76076801]] [[75669411, 75669518], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766345]]
NM_001320283 [[75671816, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [76081537, 76081694]] [[75672291, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [76081537, 76081571]]
NM_152697 [[75672074, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007201], [76076724, 76076799]] [[75672291, 75672404], [75677152, 75677237], [75679389, 75679478], [75679603, 75679674], [75680289, 75680363], [75681438, 75681542], [75683550, 75683645], [75684174, 75684437], [75684941, 75685029], [75685484, 75685577], [75688045, 75688145], [75693410, 75693542], [75699670, 75699783], [75702671, 75702755], [75704197, 75704321], [75707685, 75707746], [75708570, 75708696], [75716894, 75716979], [75740642, 75740727], [75766296, 75766370], [75805266, 75805315], [75862267, 75862306], [76007119, 76007132]]
Promoter
Chrom Start End Description
chr1 76076759 76076775 CAGE_peak_6_at_SLC44A5_5end
chr1 76076793 76076803 CAGE_peak_8_at_SLC44A5_5end
chr1 76081668 76081718 CAGE_peak_2_at_SLC44A5_5end
chr1 76081726 76081756 CAGE_peak_4_at_SLC44A5_5end
chr1 76081808 76081862 CAGE_peak_1_at_SLC44A5_5end
chr1 76081864 76081888 CAGE_peak_3_at_SLC44A5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I075614 75614469 75617019 1.36 [{'connected_gene': 'MSH4', 'score': 8.94}, {'connected_gene': 'GC01M075617', 'score': 0.44}, {'connected_gene': 'GC01M075599', 'score': 0.37}, {'connected_gene': 'SLC44A5', 'score': 0.14}]
chr1 GH01I075722 75722101 75728122 2.29 [{'connected_gene': 'ACADM', 'score': 568.97}, {'connected_gene': 'SLC44A5', 'score': 550.77}, {'connected_gene': 'ENSG00000178193', 'score': 550.77}, {'connected_gene': 'RABGGTB', 'score': 18.63}, {'connected_gene': 'SNORD45C', 'score': 12.18}, {'connected_gene': 'SNORD45A', 'score': 12.18}, {'connected_gene': 'MSH4', 'score': 11.61}, {'connected_gene': 'PIR54256', 'score': 0.37}]
chr1 GH01I075136 75136576 75136725 0.56 [{'connected_gene': 'SLC44A5', 'score': 5.93}, {'connected_gene': 'ENSG00000224127', 'score': 0.77}, {'connected_gene': 'LHX8', 'score': 0.44}, {'connected_gene': 'GC01M075131', 'score': 0.44}]
chr1 GH01I075344 75344760 75347473 0.73 [{'connected_gene': 'SLC44A5', 'score': 5.15}, {'connected_gene': 'GC01M075375', 'score': 0.25}, {'connected_gene': 'RNU6-622P', 'score': 0.1}]
chr1 GH01I075228 75228887 75229051 0.45 [{'connected_gene': 'SLC44A5', 'score': 13.42}, {'connected_gene': 'RNU6-622P', 'score': 0.25}, {'connected_gene': 'GC01M075375', 'score': 0.1}]
chr1 GH01I075472 75472754 75473321 0.71 [{'connected_gene': 'SLC44A5', 'score': 20.51}, {'connected_gene': 'LOC100422213', 'score': 0.25}, {'connected_gene': 'GC01P075427', 'score': 0.25}, {'connected_gene': 'PIR34113', 'score': 0.25}]
chr1 GH01I075589 75589749 75589808 0.61 [{'connected_gene': 'SLC44A5', 'score': 550.12}, {'connected_gene': 'GC01P075583', 'score': 0.44}, {'connected_gene': 'GC01M075599', 'score': 0.39}]
chr1 GH01I075611 75611068 75611127 0.5 [{'connected_gene': 'SLC44A5', 'score': 550.14}, {'connected_gene': 'GC01M075599', 'score': 0.39}, {'connected_gene': 'GC01M075617', 'score': 0.39}]
chr1 GH01I075539 75539491 75540269 0.38 [{'connected_gene': 'RNU6-503P', 'score': 550.77}, {'connected_gene': 'SLC44A5', 'score': 5.28}, {'connected_gene': 'GC01M075546', 'score': 0.34}]
chr1 GH01I076002 76002865 76003019 0.22 [{'connected_gene': 'LOC105378806', 'score': 550.77}, {'connected_gene': 'ST6GALNAC3', 'score': 10.51}, {'connected_gene': 'SLC44A5', 'score': 8.75}, {'connected_gene': 'ASB17', 'score': 8.09}, {'connected_gene': 'MSH4', 'score': 7.37}, {'connected_gene': 'ENSG00000230027', 'score': 0.28}, {'connected_gene': 'LOC101927342', 'score': 0.19}]
chr1 GH01I075521 75521487 75522947 0.46 [{'connected_gene': 'LOC100422213', 'score': 550.77}, {'connected_gene': 'SLC44A5', 'score': 12.01}, {'connected_gene': 'RNU6-503P', 'score': 0.37}]
chr1 GH01I075502 75502876 75503025 0.6 [{'connected_gene': 'LOC100422213', 'score': 0.37}, {'connected_gene': 'GC01P075427', 'score': 0.18}, {'connected_gene': 'PIR34113', 'score': 0.18}, {'connected_gene': 'SLC44A5', 'score': 0.07}]
chr1 GH01I075506 75506552 75506934 0.27 [{'connected_gene': 'LOC100422213', 'score': 0.39}, {'connected_gene': 'GC01P075427', 'score': 0.18}, {'connected_gene': 'PIR34113', 'score': 0.18}, {'connected_gene': 'SLC44A5', 'score': 0.08}]
chr1 GH01I075671 75671945 75673743 0.9 [{'connected_gene': 'PIR63059', 'score': 550.77}, {'connected_gene': 'GC01P075675', 'score': 550.77}, {'connected_gene': 'ACADM', 'score': 17.7}, {'connected_gene': 'DLSTP1', 'score': 10.16}, {'connected_gene': 'MSH4', 'score': 8.4}, {'connected_gene': 'LOC100421536', 'score': 7.99}, {'connected_gene': 'SLC44A5', 'score': 0.23}]
chr1 GH01I075125 75125100 75125470 0.49 [{'connected_gene': 'ENSG00000261213', 'score': 550.77}, {'connected_gene': 'SLC44A5', 'score': 5.61}, {'connected_gene': 'LHX8', 'score': 0.77}]
chr1 GH01I075333 75333122 75333394 0.22 [{'connected_gene': 'GC01M075375', 'score': 0.21}, {'connected_gene': 'RNU6-622P', 'score': 0.1}, {'connected_gene': 'SLC44A5', 'score': 0.05}]

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