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
ENST00000546097 [[147525560, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147613386, 147614521]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147613386, 147613396]]
ENST00000367481 [[147525560, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147706866]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
ENST00000367480 [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
ENST00000321680 [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147660472, 147660520], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147660472, 147660520], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
ENST00000179882 [[147527109, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147586249, 147586344], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147706481]] [[147631289, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
ENST00000367475 [[147648308, 147648412], [147655292, 147655358], [147660314, 147660374], [147674458, 147674509], [147680219, 147680459]] [[147648308, 147648412], [147655292, 147655358], [147660314, 147660374], [147674458, 147674509], [147680219, 147680459]]
ENST00000392291 [[147648336, 147648412], [147649834, 147649918], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684744]] [[147648336, 147648412], [147649834, 147649918], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684744]]
NM_139244 [[147525493, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147711612]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
NM_001127715 [[147525493, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147660472, 147660520], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147711612]] [[147525668, 147525818], [147527106, 147527204], [147556385, 147556467], [147560305, 147560406], [147581750, 147581885], [147583425, 147583489], [147588219, 147588303], [147599216, 147599340], [147612229, 147612308], [147631219, 147631374], [147632590, 147632663], [147635019, 147635167], [147635399, 147635467], [147635731, 147635772], [147636650, 147636871], [147637364, 147637543], [147646094, 147646220], [147648260, 147648412], [147655292, 147655358], [147660314, 147660374], [147660472, 147660520], [147674458, 147674509], [147680219, 147680459], [147684470, 147684840], [147685136, 147685302], [147694866, 147694978], [147703913, 147704134], [147705849, 147705891]]
Promoter
Chrom Start End Description
chr6 147524637 147524686 CAGE_peak_14_at_STXBP5_5end
chr6 147524814 147524907 CAGE_peak_1_at_STXBP5_5end
chr6 147524911 147524928 CAGE_peak_6_at_STXBP5_5end
chr6 147524975 147524988 CAGE_peak_4_at_STXBP5_5end
chr6 147525064 147525118 CAGE_peak_2_at_STXBP5_5end
chr6 147525130 147525146 CAGE_peak_7_at_STXBP5_5end
chr6 147525510 147525536 CAGE_peak_11_at_STXBP5_5end
chr6 147525541 147525566 CAGE_peak_8_at_STXBP5_5end
chr6 147525569 147525577 CAGE_peak_18_at_STXBP5_5end
chr6 147525661 147525726 CAGE_peak_5_at_STXBP5_5end
chr6 147527103 147527118 CAGE_peak_19_at_STXBP5_5end
chr6 147527126 147527167 CAGE_peak_3_at_STXBP5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH06I146870 146870522 146871616 0.49 [{'connected_gene': 'STXBP5-AS1', 'score': 19.43}, {'connected_gene': 'STXBP5', 'score': 6.89}, {'connected_gene': 'LOC105378042', 'score': 0.39}, {'connected_gene': 'ENSG00000272397', 'score': 0.18}]
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 GH06I146808 146808324 146809625 0.56 [{'connected_gene': 'STXBP5', 'score': 5.87}, {'connected_gene': 'ADGB', 'score': 5.8}, {'connected_gene': 'STXBP5-AS1', 'score': 4.78}, {'connected_gene': 'KATNBL1P6', 'score': 0.44}, {'connected_gene': 'LOC105378042', 'score': 0.25}]
chr6 GH06I147201 147201279 147208957 2.29 [{'connected_gene': 'STXBP5', 'score': 550.77}, {'connected_gene': 'STXBP5-AS1', 'score': 550.77}, {'connected_gene': 'KATNBL1P6', 'score': 12.42}, {'connected_gene': 'GC06M147362', 'score': 0.1}]
chr6 GH06I147193 147193854 147194525 0.46 [{'connected_gene': 'STXBP5', 'score': 0.39}, {'connected_gene': 'STXBP5-AS1', 'score': 0.39}, {'connected_gene': 'LUADT1', 'score': 0.28}]
chr6 GH06I147194 147194612 147196044 1.4 [{'connected_gene': 'STXBP5', 'score': 0.44}, {'connected_gene': 'STXBP5-AS1', 'score': 0.44}, {'connected_gene': 'LUADT1', 'score': 0.28}]
chr6 GH06I146897 146897837 146898866 1.36 [{'connected_gene': 'STXBP5', 'score': 12.73}, {'connected_gene': 'STXBP5-AS1', 'score': 5.15}, {'connected_gene': 'LOC105378042', 'score': 0.26}, {'connected_gene': 'ENSG00000272397', 'score': 0.23}]
chr6 GH06I147248 147248818 147249550 0.2 [{'connected_gene': 'STXBP5', 'score': 0.26}, {'connected_gene': 'STXBP5-AS1', 'score': 0.26}, {'connected_gene': 'GC06M147362', 'score': 0.13}]
chr6 GH06I147221 147221664 147223149 1.33 [{'connected_gene': 'STXBP5', 'score': 0.37}, {'connected_gene': 'STXBP5-AS1', 'score': 0.37}, {'connected_gene': 'GC06M147362', 'score': 0.1}]
chr6 GH06I147285 147285001 147285400 0.76 [{'connected_gene': 'STXBP5', 'score': 0.18}, {'connected_gene': 'STXBP5-AS1', 'score': 0.18}, {'connected_gene': 'GC06M147362', 'score': 0.17}]
chr6 GH06I147287 147287405 147288565 0.74 [{'connected_gene': 'STXBP5', 'score': 0.18}, {'connected_gene': 'STXBP5-AS1', 'score': 0.18}, {'connected_gene': 'GC06M147362', 'score': 0.17}]
chr6 GH06I147223 147223865 147224014 0.4 [{'connected_gene': 'STXBP5', 'score': 0.37}, {'connected_gene': 'STXBP5-AS1', 'score': 0.37}, {'connected_gene': 'GC06M147362', 'score': 0.11}]
chr6 GH06I147262 147262675 147263644 0.31 [{'connected_gene': 'STXBP5', 'score': 12.05}, {'connected_gene': 'STXBP5-AS1', 'score': 12.05}, {'connected_gene': 'GC06M147362', 'score': 0.14}]
chr6 GH06I147282 147282818 147283712 0.2 [{'connected_gene': 'STXBP5', 'score': 0.18}, {'connected_gene': 'STXBP5-AS1', 'score': 0.18}, {'connected_gene': 'GC06M147362', 'score': 0.16}]
chr6 GH06I147220 147220201 147221030 0.52 [{'connected_gene': 'STXBP5', 'score': 0.37}, {'connected_gene': 'STXBP5-AS1', 'score': 0.37}, {'connected_gene': 'GC06M147362', 'score': 0.1}]
chr6 GH06I147165 147165723 147166917 1.16 [{'connected_gene': 'STXBP5', 'score': 1.47}, {'connected_gene': 'LUADT1', 'score': 0.44}, {'connected_gene': 'STXBP5-AS1', 'score': 0.28}]
chr6 GH06I147126 147126198 147127514 0.99 [{'connected_gene': 'STXBP5', 'score': 21.06}, {'connected_gene': 'LUADT1', 'score': 0.29}, {'connected_gene': 'STXBP5-AS1', 'score': 0.18}, {'connected_gene': 'ENSG00000272397', 'score': 0.1}]
chr6 GH06I146880 146880594 146882067 1.3 [{'connected_gene': 'STXBP5', 'score': 6.88}, {'connected_gene': 'LOC105378044', 'score': 4.7}, {'connected_gene': 'STXBP5-AS1', 'score': 4.54}, {'connected_gene': 'LOC105378042', 'score': 0.34}, {'connected_gene': 'ENSG00000272397', 'score': 0.2}]
chr6 GH06I146851 146851945 146852174 0.31 [{'connected_gene': 'STXBP5', 'score': 6.72}, {'connected_gene': 'LOC105378042', 'score': 0.44}, {'connected_gene': 'KATNBL1P6', 'score': 0.25}, {'connected_gene': 'STXBP5-AS1', 'score': 0.05}]
chr6 GH06I146850 146850365 146850514 0.54 [{'connected_gene': 'STXBP5', 'score': 5.48}, {'connected_gene': 'LOC105378042', 'score': 0.44}, {'connected_gene': 'KATNBL1P6', 'score': 0.25}, {'connected_gene': 'STXBP5-AS1', 'score': 0.05}]
chr6 GH06I147159 147159826 147160136 0.91 [{'connected_gene': 'LUADT1', 'score': 550.77}, {'connected_gene': 'KATNBL1P6', 'score': 12.42}, {'connected_gene': 'STXBP5', 'score': 0.26}, {'connected_gene': 'STXBP5-AS1', 'score': 0.26}]
chr6 GH06I147162 147162085 147162254 0.9 [{'connected_gene': 'LUADT1', 'score': 0.77}, {'connected_gene': 'STXBP5', 'score': 0.26}, {'connected_gene': 'STXBP5-AS1', 'score': 0.26}]
chr6 GH06I147169 147169527 147171565 0.43 [{'connected_gene': 'LUADT1', 'score': 0.39}, {'connected_gene': 'STXBP5', 'score': 0.29}, {'connected_gene': 'STXBP5-AS1', 'score': 0.29}]
chr6 GH06I146854 146854893 146856925 0.81 [{'connected_gene': 'LOC105378042', 'score': 550.77}, {'connected_gene': 'ADGB', 'score': 6.51}, {'connected_gene': 'STXBP5', 'score': 5.82}, {'connected_gene': 'STXBP5-AS1', 'score': 5.31}, {'connected_gene': 'KATNBL1P6', 'score': 0.23}]
chr6 GH06I146857 146857085 146858621 1.45 [{'connected_gene': 'LOC105378042', 'score': 550.77}, {'connected_gene': 'ADGB', 'score': 7.79}, {'connected_gene': 'STXBP5', 'score': 4.55}, {'connected_gene': 'ENSG00000272397', 'score': 0.16}, {'connected_gene': 'STXBP5-AS1', 'score': 0.05}]
chr6 GH06I147321 147321201 147323455 1.2 [{'connected_gene': 'GC06M147362', 'score': 0.23}, {'connected_gene': 'STXBP5', 'score': 0.13}, {'connected_gene': 'STXBP5-AS1', 'score': 0.13}]
chr6 GH06I147381 147381825 147381974 0.31 [{'connected_gene': 'GC06M147362', 'score': 0.44}, {'connected_gene': 'ENSG00000273997', 'score': 0.34}, {'connected_gene': 'STXBP5', 'score': 0.1}]

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