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
ENST00000567964 [[53467888, 53468188], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487375]] [[53476591, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487375]]
ENST00000262133 [[53468331, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525561]] [[53468468, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524212]]
ENST00000544405 [[53469530, 53469656], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53503991]] [[53469638, 53469656], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53503991]]
ENST00000379935 [[53479692, 53479841], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488137, 53488259], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525560]] None
ENST00000544545 [[53483987, 53484197], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501018], [53515625, 53515747], [53524041, 53524532]] [[53485625, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501018], [53515625, 53515747], [53524041, 53524212]]
ENST00000561512 [[53495680, 53495762], [53496463, 53496567], [53498137, 53498789]] None
ENST00000562850 [[53498202, 53498275], [53499349, 53500021]] None
ENST00000562837 [[53500685, 53501081], [53503827, 53504169]] None
ENST00000564605 [[53513457, 53513903], [53514478, 53514667]] None
NM_001323610 [[53468331, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504428], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525560]] [[53468468, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504428], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524212]]
NM_001323609 [[53468331, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525560]] [[53468468, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524212]]
NM_001323608 [[53468331, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524213], [53524426, 53525560]] [[53468468, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747]]
NM_005611 [[53468350, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525560]] [[53468468, 53468708], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524212]]
NM_001323611 [[53469530, 53469656], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53525560]] [[53469638, 53469656], [53472927, 53473058], [53476569, 53476770], [53480953, 53481018], [53485614, 53485743], [53487363, 53487524], [53487616, 53487681], [53488567, 53488754], [53493362, 53493529], [53495652, 53495762], [53496463, 53496567], [53498137, 53498275], [53499349, 53499514], [53500969, 53501081], [53503827, 53504097], [53504294, 53504575], [53504657, 53504834], [53513065, 53513137], [53513797, 53513903], [53514478, 53514681], [53515582, 53515747], [53524041, 53524212]]
Promoter
Chrom Start End Description
chr16 53468342 53468414 CAGE_peak_1_at_RBL2_5end
chr16 53468570 53468610 CAGE_peak_5_at_RBL2_5end
chr16 53469525 53469598 CAGE_peak_2_at_RBL2_5end
chr16 53479662 53479672 CAGE_peak_13_at_RBL2_5end
chr16 53479673 53479710 CAGE_peak_3_at_RBL2_5end
chr16 53483921 53483928 CAGE_peak_14_at_RBL2_5end
chr16 53483936 53483954 CAGE_peak_6_at_RBL2_5end
chr16 53483956 53483982 CAGE_peak_4_at_RBL2_5end
chr16 53483983 53483994 CAGE_peak_10_at_RBL2_5end
chr16 53484007 53484046 CAGE_peak_7_at_RBL2_5end
chr16 53504279 53504285 CAGE_peak_20_at_RBL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I053808 53808718 53810057 0.6 [{'connected_gene': 'CHD9', 'score': 11.97}, {'connected_gene': 'RBL2', 'score': 11.69}, {'connected_gene': 'RPGRIP1L', 'score': 11.17}, {'connected_gene': 'FTO', 'score': 11.17}, {'connected_gene': 'LOC100421174', 'score': 10.64}, {'connected_gene': 'GC16P053968', 'score': 0.1}]
chr16 GH16I053207 53207225 53211422 2.06 [{'connected_gene': 'CHD9', 'score': 11.77}, {'connected_gene': 'RBL2', 'score': 11.5}, {'connected_gene': 'RPGRIP1L', 'score': 9.94}, {'connected_gene': 'ENSG00000261291', 'score': 7.55}, {'connected_gene': 'ENSG00000280227', 'score': 0.37}]
chr16 GH16I052611 52611478 52613651 0.93 [{'connected_gene': 'CHD9', 'score': 14.43}, {'connected_gene': 'RBL2', 'score': 11.92}, {'connected_gene': 'ENSG00000260393', 'score': 0.77}, {'connected_gene': 'LOC105371264', 'score': 0.44}, {'connected_gene': 'ENSG00000261261', 'score': 0.44}, {'connected_gene': 'CASC16', 'score': 0.28}]
chr16 GH16I053142 53142274 53143342 0.69 [{'connected_gene': 'CHD9', 'score': 42.3}, {'connected_gene': 'RBL2', 'score': 29.57}, {'connected_gene': 'LOC100421174', 'score': 21.9}, {'connected_gene': 'RPGRIP1L', 'score': 10.16}, {'connected_gene': 'GC16M053158', 'score': 0.31}, {'connected_gene': 'GC16P053085', 'score': 0.22}]
chr16 GH16I053089 53089314 53095398 1.63 [{'connected_gene': 'CHD9', 'score': 12.03}, {'connected_gene': 'RBL2', 'score': 1.26}, {'connected_gene': 'GC16P053085', 'score': 0.44}, {'connected_gene': 'GC16M053158', 'score': 0.18}]
chr16 GH16I053500 53500804 53505743 2.26 [{'connected_gene': 'AKTIP', 'score': 559.36}, {'connected_gene': 'RBL2', 'score': 76.85}, {'connected_gene': 'CHD9', 'score': 12.0}, {'connected_gene': 'PIR52833', 'score': 0.77}, {'connected_gene': 'GC16M053491', 'score': 0.44}]
chr16 GH16I053529 53529142 53530543 0.78 [{'connected_gene': 'AKTIP', 'score': 11.41}, {'connected_gene': 'RBL2', 'score': 10.08}, {'connected_gene': 'GC16P053540', 'score': 0.44}, {'connected_gene': 'GC16P053538', 'score': 0.44}, {'connected_gene': 'PIR32359', 'score': 0.44}, {'connected_gene': 'LOC105371268', 'score': 0.39}]
chr16 GH16I053514 53514843 53516193 0.89 [{'connected_gene': 'RBL2', 'score': 27.62}, {'connected_gene': 'CHD9', 'score': 14.44}, {'connected_gene': 'LOC105371268', 'score': 0.77}, {'connected_gene': 'PIR52833', 'score': 0.39}]
chr16 GH16I053040 53040839 53046056 1.44 [{'connected_gene': 'RBL2', 'score': 50.86}, {'connected_gene': 'CHD9', 'score': 35.2}, {'connected_gene': 'LOC100421174', 'score': 21.18}, {'connected_gene': 'FTO', 'score': 12.89}, {'connected_gene': 'LOC105371267', 'score': 0.44}, {'connected_gene': 'LOC100128523', 'score': 0.29}]
chr16 GH16I053433 53433447 53437224 2.24 [{'connected_gene': 'RBL2', 'score': 630.71}, {'connected_gene': 'CHD9', 'score': 20.93}, {'connected_gene': 'LOC100421174', 'score': 9.97}, {'connected_gene': 'ENSG00000262714', 'score': 4.97}, {'connected_gene': 'GC16P053432', 'score': 0.77}, {'connected_gene': 'RNU6-1153P', 'score': 0.44}]
chr16 GH16I053097 53097415 53101239 1.78 [{'connected_gene': 'RBL2', 'score': 15.98}, {'connected_gene': 'CHD9', 'score': 11.92}, {'connected_gene': 'GC16P053085', 'score': 0.39}, {'connected_gene': 'GC16M053158', 'score': 0.2}]
chr16 GH16I053692 53692404 53693644 0.74 [{'connected_gene': 'RBL2', 'score': 4.85}, {'connected_gene': 'FTO', 'score': 0.44}, {'connected_gene': 'RPGRIP1L', 'score': 0.39}, {'connected_gene': 'GC16P053662', 'score': 0.29}]
chr16 GH16I053416 53416864 53417810 0.52 [{'connected_gene': 'RBL2', 'score': 27.51}, {'connected_gene': 'AKTIP', 'score': 13.01}, {'connected_gene': 'CHD9', 'score': 9.95}, {'connected_gene': 'GC16P053432', 'score': 0.37}, {'connected_gene': 'ENSG00000280027', 'score': 0.31}]
chr16 GH16I053911 53911749 53914204 1.35 [{'connected_gene': 'RBL2', 'score': 4.71}, {'connected_gene': 'AKTIP', 'score': 1.42}, {'connected_gene': 'GC16P053968', 'score': 0.22}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053444 53444652 53446587 0.2 [{'connected_gene': 'RBL2', 'score': 66.12}, {'connected_gene': 'AKTIP', 'score': 14.57}, {'connected_gene': 'ENSG00000262714', 'score': 5.94}, {'connected_gene': 'ENSG00000259926', 'score': 0.77}, {'connected_gene': 'RNU6-1153P', 'score': 0.77}]
chr16 GH16I053428 53428611 53430447 0.77 [{'connected_gene': 'RBL2', 'score': 62.61}, {'connected_gene': 'AKTIP', 'score': 24.6}, {'connected_gene': 'GC16P053432', 'score': 0.77}, {'connected_gene': 'ENSG00000280027', 'score': 0.28}]
chr16 GH16I053713 53713350 53715380 0.74 [{'connected_gene': 'RBL2', 'score': 5.34}, {'connected_gene': 'RPGRIP1L', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.39}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053755 53755201 53757353 1.23 [{'connected_gene': 'RBL2', 'score': 4.49}, {'connected_gene': 'RPGRIP1L', 'score': 0.23}, {'connected_gene': 'FTO', 'score': 0.23}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053549 53549609 53551053 1.05 [{'connected_gene': 'RBL2', 'score': 7.78}, {'connected_gene': 'PIR49086', 'score': 0.44}, {'connected_gene': 'LOC105371269', 'score': 0.39}, {'connected_gene': 'GC16P053540', 'score': 0.39}, {'connected_gene': 'GC16P053538', 'score': 0.39}, {'connected_gene': 'PIR32359', 'score': 0.39}]
chr16 GH16I053509 53509364 53511952 1.35 [{'connected_gene': 'RBL2', 'score': 19.37}, {'connected_gene': 'PIR52833', 'score': 0.44}, {'connected_gene': 'LOC105371268', 'score': 0.44}]
chr16 GH16I053516 53516201 53516400 0.4 [{'connected_gene': 'RBL2', 'score': 4.99}, {'connected_gene': 'LOC105371268', 'score': 0.77}, {'connected_gene': 'PIR52833', 'score': 0.39}]
chr16 GH16I053535 53535029 53535198 0.72 [{'connected_gene': 'RBL2', 'score': 6.83}, {'connected_gene': 'GC16P053540', 'score': 0.77}, {'connected_gene': 'GC16P053538', 'score': 0.77}, {'connected_gene': 'PIR32359', 'score': 0.77}, {'connected_gene': 'LOC105371268', 'score': 0.37}]
chr16 GH16I053960 53960146 53962031 1.06 [{'connected_gene': 'RBL2', 'score': 18.04}, {'connected_gene': 'LOC100421174', 'score': 11.77}, {'connected_gene': 'CHD9', 'score': 9.66}, {'connected_gene': 'GC16P053968', 'score': 0.44}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053451 53451530 53452604 0.2 [{'connected_gene': 'RBL2', 'score': 63.59}, {'connected_gene': 'ENSG00000259926', 'score': 0.77}, {'connected_gene': 'PIR39747', 'score': 0.77}]
chr16 GH16I053483 53483922 53484186 0.28 [{'connected_gene': 'RBL2', 'score': 66.84}, {'connected_gene': 'ENSG00000279344', 'score': 0.77}, {'connected_gene': 'ENSG00000279722', 'score': 0.44}]
chr16 GH16I053703 53703192 53705162 2.04 [{'connected_gene': 'RPGRIP1L', 'score': 550.77}, {'connected_gene': 'FTO', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 19.03}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053517 53517201 53520211 1.59 [{'connected_gene': 'LOC105371268', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 25.07}, {'connected_gene': 'LOC643802', 'score': 23.97}, {'connected_gene': 'AKTIP', 'score': 2.77}, {'connected_gene': 'PIR52833', 'score': 0.39}]
chr16 GH16I053051 53051808 53053800 1.73 [{'connected_gene': 'LOC105371267', 'score': 550.77}, {'connected_gene': 'CHD9', 'score': 84.58}, {'connected_gene': 'RBL2', 'score': 78.92}, {'connected_gene': 'LOC100421174', 'score': 39.01}, {'connected_gene': 'RPGRIP1L', 'score': 37.3}, {'connected_gene': 'LOC100128523', 'score': 0.26}]
chr16 GH16I054283 54283745 54287929 2.01 [{'connected_gene': 'ENSG00000283689', 'score': 550.77}, {'connected_gene': 'IRX3', 'score': 550.77}, {'connected_gene': 'GC16P054286', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 16.86}, {'connected_gene': 'RPGRIP1L', 'score': 11.89}, {'connected_gene': 'LOC100421174', 'score': 10.7}]
chr16 GH16I054067 54067357 54067711 0.94 [{'connected_gene': 'GC16P054067', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 12.43}, {'connected_gene': 'GC16P054061', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053453 53453387 53459328 1.16 [{'connected_gene': 'PIR39747', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 75.69}, {'connected_gene': 'AKTIP', 'score': 20.02}, {'connected_gene': 'ENSG00000279344', 'score': 0.31}]
chr16 GH16I053449 53449489 53450569 0.66 [{'connected_gene': 'ENSG00000259926', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 61.91}, {'connected_gene': 'PIR39747', 'score': 0.77}]

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