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
ENST00000508604 [[77035811, 77036647], [77038816, 77039347], [77045801, 77045909], [77051808, 77052004]] None
ENST00000507257 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069569]] [[77055501, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069527]]
ENST00000264883 [[77035816, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77069460, 77069668]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77069460, 77069527]]
ENST00000342467 [[77035817, 77036647], [77038816, 77038927], [77039227, 77039347], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77069460, 77069552]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055497]]
ENST00000502850 [[77036239, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77065301, 77065445], [77065542, 77065626], [77066707, 77066730], [77068631, 77068793], [77069460, 77069558]] [[77065364, 77065445], [77065542, 77065626], [77066707, 77066730], [77068631, 77068793], [77069460, 77069527]]
ENST00000508465 [[77036256, 77036647], [77038816, 77038895], [77039227, 77039347], [77045801, 77045909], [77051808, 77051854]] None
ENST00000514987 [[77036358, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065542, 77065626], [77069460, 77069550]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065542, 77065626], [77069460, 77069527]]
ENST00000458189 [[77036453, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069550]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055497]]
ENST00000512151 [[77036453, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069550]] [[77055501, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069527]]
ENST00000513248 [[77036590, 77036647], [77038816, 77038927], [77039227, 77039590]] None
ENST00000504173 [[77045732, 77045909], [77069460, 77069597]] None
ENST00000514313 [[77053472, 77053872], [77055327, 77055464]] None
ENST00000515460 [[77055328, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77066707, 77066844], [77069460, 77069530]] None
ENST00000514307 [[77057340, 77057565], [77065301, 77065445], [77065542, 77065626], [77069242, 77069355]] None
ENST00000506098 [[77057473, 77057565], [77065301, 77065445], [77065542, 77065626], [77068631, 77068793], [77068908, 77068974]] None
ENST00000514901 [[77065282, 77065445], [77065542, 77065626], [77068631, 77068793], [77069460, 77069551]] [[77065282, 77065445], [77065542, 77065626], [77068631, 77068793], [77069460, 77069527]]
ENST00000508583 [[77065282, 77065445], [77065542, 77065626], [77067135, 77067282], [77069460, 77069587]] None
ENST00000510569 [[77065301, 77065445], [77065542, 77065626], [77066707, 77066973]] None
ENST00000510884 [[77065336, 77065445], [77065542, 77065626], [77066707, 77066844], [77069242, 77069353]] None
ENST00000513352 [[77065349, 77065445], [77065542, 77065626], [77067135, 77067282], [77068631, 77068793], [77069460, 77069550]] [[77067256, 77067282], [77068631, 77068793], [77069460, 77069527]]
NR_103782 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77065301, 77065445], [77065542, 77065626], [77066707, 77066730], [77068631, 77068793], [77069460, 77069668]] None
NM_017426 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77069460, 77069668]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065301, 77065445], [77065542, 77065626], [77069460, 77069527]]
NR_103780 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069668]] None
NR_103781 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77065301, 77065445], [77065542, 77065626], [77069460, 77069668]] None
NM_001278603 [[77035811, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065542, 77065626], [77069460, 77069668]] [[77036518, 77036647], [77038816, 77038927], [77039227, 77039347], [77045801, 77045909], [77051808, 77051902], [77052382, 77052437], [77053675, 77053872], [77055327, 77055515], [77057338, 77057565], [77065542, 77065626], [77069460, 77069527]]
Promoter
Chrom Start End Description
chr4 77068930 77068959 CAGE_peak_4_at_NUP54_5end
chr4 77069533 77069563 CAGE_peak_1_at_NUP54_5end
chr4 77069573 77069592 CAGE_peak_2_at_NUP54_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075695 75695105 75696975 0.88 [{'connected_gene': 'G3BP2', 'score': 6.94}, {'connected_gene': 'CDKL2', 'score': 5.53}, {'connected_gene': 'CCDC158', 'score': 4.92}, {'connected_gene': 'USO1', 'score': 4.8}, {'connected_gene': 'NAAA', 'score': 4.41}, {'connected_gene': 'RCHY1', 'score': 1.61}, {'connected_gene': 'THAP6', 'score': 1.55}, {'connected_gene': 'NUP54', 'score': 1.5}, {'connected_gene': 'GC04M075663', 'score': 0.29}, {'connected_gene': 'ENSG00000201644', 'score': 0.29}]
chr4 GH04I075671 75671213 75675587 2.26 [{'connected_gene': 'G3BP2', 'score': 563.19}, {'connected_gene': 'USO1', 'score': 17.54}, {'connected_gene': 'CDKL2', 'score': 11.71}, {'connected_gene': 'NUP54', 'score': 10.01}, {'connected_gene': 'NAAA', 'score': 4.4}, {'connected_gene': 'GC04M075663', 'score': 0.39}, {'connected_gene': 'ENSG00000201644', 'score': 0.39}]
chr4 GH04I076182 76182679 76183703 0.2 [{'connected_gene': 'SCARB2', 'score': 22.06}, {'connected_gene': 'FAM47E', 'score': 11.65}, {'connected_gene': 'STBD1', 'score': 11.44}, {'connected_gene': 'RNU6-1000P', 'score': 10.66}, {'connected_gene': 'GC04P076210', 'score': 0.31}, {'connected_gene': 'NUP54', 'score': 0.29}]
chr4 GH04I076233 76233169 76238668 1.27 [{'connected_gene': 'SCARB2', 'score': 565.13}, {'connected_gene': 'FAM47E', 'score': 19.46}, {'connected_gene': 'NUP54', 'score': 15.62}, {'connected_gene': 'THAP6', 'score': 10.79}, {'connected_gene': 'SDAD1', 'score': 10.41}, {'connected_gene': 'ENSG00000251185', 'score': 5.59}, {'connected_gene': 'STBD1', 'score': 5.25}, {'connected_gene': 'LOC105377286', 'score': 0.37}]
chr4 GH04I076304 76304768 76309197 2.18 [{'connected_gene': 'STBD1', 'score': 566.68}, {'connected_gene': 'CCDC158', 'score': 17.14}, {'connected_gene': 'SCARB2', 'score': 11.73}, {'connected_gene': 'FAM47E', 'score': 11.69}, {'connected_gene': 'RNU6-1000P', 'score': 10.7}, {'connected_gene': 'NUP54', 'score': 10.58}, {'connected_gene': 'GC04M076318', 'score': 0.39}, {'connected_gene': 'GC04M076287', 'score': 0.26}, {'connected_gene': 'FAM47E-STBD1', 'score': 0.22}]
chr4 GH04I076947 76947523 76952978 2.48 [{'connected_gene': 'SEPT11', 'score': 556.06}, {'connected_gene': 'GC04M076939', 'score': 550.77}, {'connected_gene': 'LOC105377294', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 20.62}, {'connected_gene': 'SDAD1', 'score': 16.32}, {'connected_gene': 'SOWAHB', 'score': 10.01}, {'connected_gene': 'RPL7P17', 'score': 9.9}, {'connected_gene': 'CNOT6L', 'score': 9.89}, {'connected_gene': 'MRPL1', 'score': 5.69}, {'connected_gene': 'GC04P076953', 'score': 0.77}]
chr4 GH04I076192 76192944 76202642 1.45 [{'connected_gene': 'NUP54', 'score': 37.35}, {'connected_gene': 'SCARB2', 'score': 22.78}, {'connected_gene': 'RCHY1', 'score': 11.17}, {'connected_gene': 'THAP6', 'score': 9.66}, {'connected_gene': 'ART3', 'score': 8.22}, {'connected_gene': 'NAAA', 'score': 4.51}, {'connected_gene': 'GC04P076210', 'score': 0.39}]
chr4 GH04I076185 76185358 76189826 0.64 [{'connected_gene': 'NUP54', 'score': 28.55}, {'connected_gene': 'SCARB2', 'score': 23.49}, {'connected_gene': 'FAM47E', 'score': 12.24}, {'connected_gene': 'STBD1', 'score': 11.44}, {'connected_gene': 'RNU6-1000P', 'score': 10.66}, {'connected_gene': 'NAAA', 'score': 6.47}, {'connected_gene': 'RPL7P17', 'score': 5.9}, {'connected_gene': 'GC04P076210', 'score': 0.34}]
chr4 GH04I076177 76177208 76179442 0.49 [{'connected_gene': 'NUP54', 'score': 28.81}, {'connected_gene': 'SCARB2', 'score': 21.86}, {'connected_gene': 'FAM47E', 'score': 11.38}, {'connected_gene': 'CCDC158', 'score': 11.27}, {'connected_gene': 'STBD1', 'score': 10.8}, {'connected_gene': 'RNU6-1000P', 'score': 10.41}, {'connected_gene': 'ART3', 'score': 6.02}, {'connected_gene': 'GC04P076210', 'score': 0.29}]
chr4 GH04I076154 76154975 76157394 0.43 [{'connected_gene': 'NUP54', 'score': 27.7}, {'connected_gene': 'SCARB2', 'score': 20.78}, {'connected_gene': 'FAM47E', 'score': 10.39}, {'connected_gene': 'RNU6-1000P', 'score': 10.34}, {'connected_gene': 'NAAA', 'score': 7.43}, {'connected_gene': 'GC04P076146', 'score': 0.44}, {'connected_gene': 'GC04P076210', 'score': 0.23}]
chr4 GH04I076165 76165626 76167286 0.2 [{'connected_gene': 'NUP54', 'score': 4.66}, {'connected_gene': 'GC04P076210', 'score': 0.26}, {'connected_gene': 'SCARB2', 'score': 0.2}]
chr4 GH04I076203 76203262 76204733 0.58 [{'connected_gene': 'NUP54', 'score': 20.12}, {'connected_gene': 'ART3', 'score': 12.79}, {'connected_gene': 'GC04P076210', 'score': 0.44}, {'connected_gene': 'SCARB2', 'score': 0.29}]
chr4 GH04I076152 76152250 76154316 0.2 [{'connected_gene': 'NUP54', 'score': 28.11}, {'connected_gene': 'ART3', 'score': 13.97}, {'connected_gene': 'GC04P076146', 'score': 0.44}, {'connected_gene': 'GC04P076210', 'score': 0.22}]
chr4 GH04I076089 76089277 76091385 1.44 [{'connected_gene': 'NUP54', 'score': 38.7}, {'connected_gene': 'CXCL10', 'score': 12.48}, {'connected_gene': 'CXCL9', 'score': 12.23}, {'connected_gene': 'SDAD1', 'score': 11.07}, {'connected_gene': 'ART3', 'score': 10.99}, {'connected_gene': 'NAAA', 'score': 8.88}, {'connected_gene': 'CXCL11', 'score': 1.56}, {'connected_gene': 'GC04P076101', 'score': 0.39}]
chr4 GH04I076146 76146937 76149405 2.11 [{'connected_gene': 'NUP54', 'score': 618.43}, {'connected_gene': 'GC04P076146', 'score': 550.77}, {'connected_gene': 'THAP6', 'score': 23.92}, {'connected_gene': 'ART3', 'score': 15.69}, {'connected_gene': 'RPL7P17', 'score': 11.92}, {'connected_gene': 'SDAD1', 'score': 10.26}]
chr4 GH04I076179 76179968 76180077 0.97 [{'connected_gene': 'NUP54', 'score': 26.61}, {'connected_gene': 'FAM47E', 'score': 11.39}, {'connected_gene': 'SCARB2', 'score': 11.33}, {'connected_gene': 'CCDC158', 'score': 11.27}, {'connected_gene': 'STBD1', 'score': 10.8}, {'connected_gene': 'RNU6-1000P', 'score': 10.36}, {'connected_gene': 'GC04P076210', 'score': 0.29}]
chr4 GH04I076088 76088597 76088729 0.39 [{'connected_gene': 'CXCL9', 'score': 11.12}, {'connected_gene': 'SDAD1', 'score': 11.07}, {'connected_gene': 'NUP54', 'score': 11.01}, {'connected_gene': 'ART3', 'score': 10.99}, {'connected_gene': 'CXCL10', 'score': 10.94}, {'connected_gene': 'GC04P076101', 'score': 0.39}, {'connected_gene': 'CXCL11', 'score': 0.25}]
chr4 GH04I076087 76087001 76087457 1.12 [{'connected_gene': 'CXCL9', 'score': 11.12}, {'connected_gene': 'SDAD1', 'score': 11.07}, {'connected_gene': 'NUP54', 'score': 11.0}, {'connected_gene': 'ART3', 'score': 10.99}, {'connected_gene': 'CXCL10', 'score': 10.95}, {'connected_gene': 'GC04P076101', 'score': 0.39}, {'connected_gene': 'CXCL11', 'score': 0.25}]
chr4 GH04I076011 76011040 76013527 1.38 [{'connected_gene': 'ART3', 'score': 609.96}, {'connected_gene': 'NAAA', 'score': 25.73}, {'connected_gene': 'NUP54', 'score': 11.7}, {'connected_gene': 'GC04M075923', 'score': 0.39}, {'connected_gene': 'CXCL10', 'score': 0.39}]
chr4 GH04I076943 76943147 76944502 0.83 [{'connected_gene': 'SOWAHB', 'score': 18.52}, {'connected_gene': 'NUP54', 'score': 16.91}, {'connected_gene': 'SDAD1', 'score': 10.43}, {'connected_gene': 'GC04M076939', 'score': 0.44}, {'connected_gene': 'LOC105377294', 'score': 0.44}]
chr4 GH04I076855 76855554 76858108 1.08 [{'connected_gene': 'SOWAHB', 'score': 19.28}, {'connected_gene': 'CNOT6L', 'score': 11.35}, {'connected_gene': 'NUP54', 'score': 11.28}, {'connected_gene': 'RPL7P17', 'score': 10.06}, {'connected_gene': 'PIR31989', 'score': 0.31}, {'connected_gene': 'LOC105377289', 'score': 0.23}]
chr4 GH04I075511 75511367 75516275 2.29 [{'connected_gene': 'THAP6', 'score': 570.24}, {'connected_gene': 'RCHY1', 'score': 567.14}, {'connected_gene': 'NUP54', 'score': 24.06}]
chr4 GH04I076180 76180859 76181270 0.2 [{'connected_gene': 'FAM47E', 'score': 11.65}, {'connected_gene': 'SCARB2', 'score': 11.59}, {'connected_gene': 'STBD1', 'score': 11.44}, {'connected_gene': 'RNU6-1000P', 'score': 10.66}, {'connected_gene': 'GC04P076210', 'score': 0.31}, {'connected_gene': 'NUP54', 'score': 0.29}]
chr4 GH04I076205 76205669 76215919 2.5 [{'connected_gene': 'FAM47E', 'score': 569.73}, {'connected_gene': 'SCARB2', 'score': 556.87}, {'connected_gene': 'GC04P076210', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 39.17}, {'connected_gene': 'THAP6', 'score': 16.03}, {'connected_gene': 'SDAD1', 'score': 14.66}, {'connected_gene': 'ART3', 'score': 9.06}, {'connected_gene': 'NAAA', 'score': 7.1}, {'connected_gene': 'G3BP2', 'score': 5.88}, {'connected_gene': 'STBD1', 'score': 4.69}, {'connected_gene': 'CXCL10', 'score': 1.4}, {'connected_gene': 'CXCL11', 'score': 1.4}]
chr4 GH04I076223 76223376 76224794 0.31 [{'connected_gene': 'FAM47E', 'score': 17.97}, {'connected_gene': 'CCDC158', 'score': 10.48}, {'connected_gene': 'RNU6-1000P', 'score': 10.01}, {'connected_gene': 'NUP54', 'score': 9.94}, {'connected_gene': 'SCARB2', 'score': 5.27}, {'connected_gene': 'CXCL11', 'score': 4.44}]
chr4 GH04I076028 76027395 76027509 0.26 [{'connected_gene': 'GC04M075923', 'score': 550.77}, {'connected_gene': 'ART3', 'score': 61.73}, {'connected_gene': 'CXCL10', 'score': 23.77}, {'connected_gene': 'CXCL9', 'score': 20.43}, {'connected_gene': 'CXCL11', 'score': 19.68}, {'connected_gene': 'NUP54', 'score': 9.84}, {'connected_gene': 'NAAA', 'score': 1.82}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I077072 77071849 77077629 2.35 [{'connected_gene': 'GC04P077075', 'score': 550.77}, {'connected_gene': 'CCNI', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 106.22}, {'connected_gene': 'CNOT6L', 'score': 92.53}, {'connected_gene': 'RPL7P17', 'score': 37.77}, {'connected_gene': 'GC04M077051', 'score': 0.34}]
chr4 GH04I076801 76801276 76804763 1.09 [{'connected_gene': 'ENSG00000224218', 'score': 550.77}, {'connected_gene': 'LOC105377289', 'score': 550.77}, {'connected_gene': 'SDAD1', 'score': 16.24}, {'connected_gene': 'NUP54', 'score': 14.67}, {'connected_gene': 'PIR31989', 'score': 0.18}]

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