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
ENST00000502543 [[76862102, 76862433], [76871840, 76871950], [76877127, 76877289], [76878477, 76878524]] None
ENST00000395710 [[76871058, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902698], [76903085, 76903190], [76911904, 76912091]] [[76902674, 76902698], [76903085, 76903190], [76911904, 76911994]]
ENST00000356260 [[76871068, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902623], [76903085, 76903190], [76911904, 76912113]] [[76871902, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902623], [76903085, 76903190], [76911904, 76911994]]
ENST00000395711 [[76871438, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76902524, 76902623], [76903085, 76903190], [76911904, 76912090]] [[76871902, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76902524, 76902623], [76903085, 76903190], [76911904, 76911994]]
ENST00000513089 [[76881274, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544]] None
ENST00000507396 [[76886936, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76896896, 76896997]] None
ENST00000515836 [[76892537, 76892611], [76894469, 76894544], [76896896, 76896997], [76897076, 76897148], [76898798, 76898838]] None
ENST00000503411 [[76894512, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902667], [76903085, 76903190], [76911904, 76912084]] [[76902595, 76902667], [76903085, 76903190], [76911904, 76911994]]
ENST00000504975 [[76898821, 76898909], [76902524, 76902623], [76903085, 76903190], [76911848, 76912115]] None
ENST00000514710 [[76898875, 76898909], [76902524, 76902698], [76903085, 76903190], [76911848, 76912098]] [[76902674, 76902698], [76903085, 76903190], [76911848, 76911863]]
NM_001288984 [[76871058, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902698], [76903085, 76903190], [76911904, 76912115]] [[76871902, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902527]]
NM_018115 [[76871058, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902623], [76903085, 76903190], [76911904, 76912115]] [[76871902, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76898798, 76898909], [76902524, 76902623], [76903085, 76903190], [76911904, 76911994]]
NM_001288983 [[76871058, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76902524, 76902623], [76903085, 76903190], [76911904, 76912115]] [[76871902, 76871950], [76877127, 76877289], [76878477, 76878562], [76878670, 76878861], [76878999, 76879094], [76881218, 76881345], [76882180, 76882257], [76882363, 76882461], [76885287, 76885364], [76886916, 76886975], [76888429, 76888487], [76890448, 76890552], [76891461, 76891531], [76892509, 76892611], [76894469, 76894544], [76895228, 76895286], [76896896, 76896997], [76897076, 76897148], [76902524, 76902623], [76903085, 76903190], [76911904, 76911994]]
Promoter
Chrom Start End Description
chr4 76912070 76912118 CAGE_peak_1_at_SDAD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH04I075989 75989514 75991601 2.04 [{'connected_gene': 'SDAD1', 'score': 550.77}, {'connected_gene': 'NAAA', 'score': 24.51}, {'connected_gene': 'SCARB2', 'score': 10.06}, {'connected_gene': 'ART3', 'score': 6.28}, {'connected_gene': 'LOC101928809', 'score': 0.44}, {'connected_gene': 'GC04M075923', 'score': 0.28}]
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 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 GH04I076029 76029377 76029603 0.39 [{'connected_gene': 'CXCL9', 'score': 46.9}, {'connected_gene': 'CXCL10', 'score': 36.97}, {'connected_gene': 'CXCL11', 'score': 26.01}, {'connected_gene': 'SDAD1', 'score': 11.33}, {'connected_gene': 'ART3', 'score': 5.96}, {'connected_gene': 'NAAA', 'score': 1.91}, {'connected_gene': 'GC04M075923', 'score': 0.77}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I076072 76072307 76073694 0.38 [{'connected_gene': 'ART3', 'score': 21.34}, {'connected_gene': 'CXCL9', 'score': 11.43}, {'connected_gene': 'SDAD1', 'score': 11.01}, {'connected_gene': 'CXCL10', 'score': 11.0}, {'connected_gene': 'LOC101928809', 'score': 11.0}, {'connected_gene': 'PPEF2', 'score': 10.5}, {'connected_gene': 'GC04P076101', 'score': 0.31}, {'connected_gene': 'CXCL11', 'score': 0.29}]
chr4 GH04I076074 76074664 76074723 0.5 [{'connected_gene': 'ART3', 'score': 561.44}, {'connected_gene': 'CXCL9', 'score': 11.43}, {'connected_gene': 'SDAD1', 'score': 11.01}, {'connected_gene': 'LOC101928809', 'score': 11.0}, {'connected_gene': 'CXCL10', 'score': 10.98}, {'connected_gene': 'PPEF2', 'score': 10.5}, {'connected_gene': 'GC04P076101', 'score': 0.31}, {'connected_gene': 'CXCL11', 'score': 0.29}]
chr4 GH04I076027 76027868 76029000 1.05 [{'connected_gene': 'ART3', 'score': 61.73}, {'connected_gene': 'CXCL9', 'score': 27.37}, {'connected_gene': 'CXCL10', 'score': 19.98}, {'connected_gene': 'CXCL11', 'score': 18.72}, {'connected_gene': 'SDAD1', 'score': 11.33}, {'connected_gene': 'NAAA', 'score': 2.53}, {'connected_gene': 'GC04M075923', 'score': 0.77}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I076059 76059390 76060560 0.86 [{'connected_gene': 'ART3', 'score': 75.17}, {'connected_gene': 'CXCL10', 'score': 32.82}, {'connected_gene': 'CXCL9', 'score': 29.59}, {'connected_gene': 'NAAA', 'score': 26.79}, {'connected_gene': 'CXCL11', 'score': 18.55}, {'connected_gene': 'SDAD1', 'score': 11.76}, {'connected_gene': 'LOC101928809', 'score': 11.44}, {'connected_gene': 'GC04P076101', 'score': 0.26}]
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 GH04I075939 75939435 75941580 1.92 [{'connected_gene': 'NAAA', 'score': 614.34}, {'connected_gene': 'GC04M075942', 'score': 550.77}, {'connected_gene': 'PIR50646', 'score': 550.77}, {'connected_gene': 'PPEF2', 'score': 12.19}, {'connected_gene': 'SCARB2', 'score': 8.36}, {'connected_gene': 'ART3', 'score': 7.28}, {'connected_gene': 'SDAD1', 'score': 0.23}, {'connected_gene': 'GC04M075923', 'score': 0.17}]
chr4 GH04I075984 75984533 75986288 0.31 [{'connected_gene': 'NAAA', 'score': 66.18}, {'connected_gene': 'ART3', 'score': 9.03}, {'connected_gene': 'LOC101928809', 'score': 0.77}, {'connected_gene': 'SDAD1', 'score': 0.44}, {'connected_gene': 'GC04M075923', 'score': 0.26}]
chr4 GH04I076055 76055188 76055337 0.74 [{'connected_gene': 'NAAA', 'score': 26.0}, {'connected_gene': 'CXCL10', 'score': 11.8}, {'connected_gene': 'CXCL9', 'score': 11.26}, {'connected_gene': 'SDAD1', 'score': 11.17}, {'connected_gene': 'ART3', 'score': 11.08}, {'connected_gene': 'CXCL11', 'score': 0.39}, {'connected_gene': 'GC04P076101', 'score': 0.25}]
chr4 GH04I075847 75847548 75847697 0.46 [{'connected_gene': 'THAP6', 'score': 12.55}, {'connected_gene': 'LOC105377284', 'score': 12.54}, {'connected_gene': 'PPEF2', 'score': 11.3}, {'connected_gene': 'RCHY1', 'score': 11.22}, {'connected_gene': 'SDAD1', 'score': 10.73}, {'connected_gene': 'GC04P075831', 'score': 0.37}, {'connected_gene': 'LOC105377285', '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 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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