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
ENST00000323851 [[134249413, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309376, 134309480]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000354944 [[134249414, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270634], [134274401, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309376, 134309495]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270634], [134274401, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000521438 [[134249418, 134249772], [134251314, 134253770]] None
ENST00000521026 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256746]] None
ENST00000521414 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134261571, 134261731]] None
ENST00000519278 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134268471]] None
ENST00000537882 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134292474, 134292510], [134296491, 134296572], [134309376, 134309495]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274372]]
ENST00000517599 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134292474, 134292510], [134296491, 134296572], [134309376, 134309495]] [[134270664, 134270669], [134271410, 134271473], [134274289, 134274410], [134292474, 134292510], [134296491, 134296554]]
ENST00000414097 [[134249418, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134308979, 134309829]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000518176 [[134250780, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134296506, 134296572], [134309376, 134309480]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134296506, 134296554]]
ENST00000522476 [[134250940, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134309376, 134309495]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276796]]
ENST00000518066 [[134251009, 134251362], [134254265, 134254299], [134296518, 134296572], [134309376, 134309495]] [[134251120, 134251362], [134254265, 134254299], [134296518, 134296554]]
ENST00000523642 [[134254116, 134254317], [134256597, 134256903]] None
ENST00000522665 [[134254120, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262703]] None
ENST00000517331 [[134256622, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134271645, 134271689]] None
ENST00000522377 [[134258865, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134267512, 134267643], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309376, 134309482]] [[134267529, 134267643], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000521664 [[134258869, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134267125]] None
ENST00000520230 [[134269027, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134314230, 134314265]] [[134269027, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134314230, 134314263]]
ENST00000518010 [[134269051, 134269106], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309376, 134309495]] None
ENST00000518480 [[134269058, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134309376, 134309499]] [[134269058, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276796]]
ENST00000519228 [[134269061, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309985, 134310201]] [[134269061, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000519580 [[134269082, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134308740, 134308798]] [[134269082, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000522890 [[134269082, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309246, 134309335]] [[134269082, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000520943 [[134270621, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134310620, 134310701]] [[134270621, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134310620, 134310635]]
ENST00000521544 [[134270658, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134300502, 134300674], [134309376, 134309495]] [[134270658, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
ENST00000517745 [[134271238, 134271473], [134274289, 134274410], [134276789, 134276824]] None
ENST00000518094 [[134271337, 134271473], [134274289, 134274500]] None
ENST00000522738 [[134271460, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134296999, 134297139], [134308746, 134308779]] [[134271460, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134296999, 134297139], [134308746, 134308750]]
ENST00000523892 [[134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134293203, 134293298], [134296491, 134296572], [134309376, 134309499]] [[134274289, 134274410], [134276789, 134276796]]
ENST00000523931 [[134274302, 134274410], [134276789, 134277235]] None
NM_001135242 [[134249413, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134308979, 134309547]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
NM_006096 [[134249413, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296572], [134309376, 134309547]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134292474, 134292510], [134296491, 134296554]]
NM_001258433 [[134249413, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134292474, 134292510], [134296491, 134296572], [134309376, 134309547]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274372]]
NM_001258432 [[134249413, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276895], [134309376, 134309547]] [[134251120, 134251362], [134254265, 134254317], [134256597, 134256633], [134258858, 134258906], [134260117, 134260169], [134260957, 134261014], [134262682, 134262786], [134266781, 134266838], [134269019, 134269106], [134270608, 134270669], [134271410, 134271473], [134274289, 134274410], [134276789, 134276796]]
Promoter
Chrom Start End Description
chr8 134250145 134250165 CAGE_peak_13_at_NDRG1_5end
chr8 134260979 134261020 CAGE_peak_6_at_NDRG1_5end
chr8 134262711 134262736 CAGE_peak_8_at_NDRG1_5end
chr8 134262744 134262771 CAGE_peak_3_at_NDRG1_5end
chr8 134274372 134274415 CAGE_peak_5_at_NDRG1_5end
chr8 134276816 134276849 CAGE_peak_2_at_NDRG1_5end
chr8 134309488 134309503 CAGE_peak_1_at_NDRG1_5end
chr8 134309823 134309841 CAGE_peak_9_at_NDRG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I133128 133128209 133131608 1.46 [{'connected_gene': 'WISP1', 'score': 17.24}, {'connected_gene': 'TG', 'score': 12.84}, {'connected_gene': 'SLA', 'score': 12.31}, {'connected_gene': 'ST3GAL1', 'score': 10.8}, {'connected_gene': 'PHF20L1', 'score': 1.46}, {'connected_gene': 'NDRG1', 'score': 1.2}, {'connected_gene': 'GC08P133116', 'score': 0.39}, {'connected_gene': 'LOC105375769', 'score': 0.39}]
chr8 GH08I133215 133215994 133219023 1.68 [{'connected_gene': 'WISP1', 'score': 11.18}, {'connected_gene': 'NDRG1', 'score': 10.98}, {'connected_gene': 'TG', 'score': 10.45}, {'connected_gene': 'ST3GAL1', 'score': 4.67}, {'connected_gene': 'GC08M133212', 'score': 0.77}, {'connected_gene': 'LOC102723635', 'score': 0.77}]
chr8 GH08I133436 133436981 133438869 0.63 [{'connected_gene': 'WISP1', 'score': 11.32}, {'connected_gene': 'NDRG1', 'score': 11.25}, {'connected_gene': 'TG', 'score': 9.87}, {'connected_gene': 'RPL32P20', 'score': 7.19}, {'connected_gene': 'ST3GAL1', 'score': 5.66}, {'connected_gene': 'GC08M133455', 'score': 0.34}, {'connected_gene': 'ST13P6', 'score': 0.29}]
chr8 GH08I133432 133432810 133434147 0.38 [{'connected_gene': 'WISP1', 'score': 11.08}, {'connected_gene': 'NDRG1', 'score': 10.84}, {'connected_gene': 'ST3GAL1', 'score': 6.69}, {'connected_gene': 'GC08M133455', 'score': 0.31}, {'connected_gene': 'ST13P6', 'score': 0.31}]
chr8 GH08I133111 133111816 133113667 0.86 [{'connected_gene': 'WISP1', 'score': 5.78}, {'connected_gene': 'NDRG1', 'score': 4.78}, {'connected_gene': 'GC08P133116', 'score': 0.77}, {'connected_gene': 'SLA', 'score': 0.44}, {'connected_gene': 'TG', 'score': 0.07}]
chr8 GH08I133237 133237002 133239384 0.86 [{'connected_gene': 'WISP1', 'score': 11.1}, {'connected_gene': 'GC08M133232', 'score': 0.77}, {'connected_gene': 'NDRG1', 'score': 0.21}]
chr8 GH08I133349 133349851 133352457 1.12 [{'connected_gene': 'TG', 'score': 9.97}, {'connected_gene': 'RPL32P20', 'score': 9.9}, {'connected_gene': 'NDRG1', 'score': 4.64}, {'connected_gene': 'LOC105375772', 'score': 0.44}]
chr8 GH08I133366 133366732 133368075 0.38 [{'connected_gene': 'RPL32P20', 'score': 7.28}, {'connected_gene': 'NDRG1', 'score': 4.46}, {'connected_gene': 'LOC105375772', 'score': 0.44}, {'connected_gene': 'LOC105375771', 'score': 0.39}]
chr8 GH08I133353 133353777 133357851 1.45 [{'connected_gene': 'RPL32P20', 'score': 10.41}, {'connected_gene': 'NDRG1', 'score': 1.81}, {'connected_gene': 'LOC105375772', 'score': 0.77}]
chr8 GH08I133326 133326371 133327512 0.43 [{'connected_gene': 'RPL32P20', 'score': 550.77}, {'connected_gene': 'NDRG1', 'score': 11.99}, {'connected_gene': 'ENSG00000270137', 'score': 5.19}, {'connected_gene': 'LOC105375772', 'score': 0.29}]
chr8 GH08I133142 133142401 133145999 1.04 [{'connected_gene': 'LOC105375769', 'score': 550.77}, {'connected_gene': 'TMEM71', 'score': 23.52}, {'connected_gene': 'PHF20L1', 'score': 22.4}, {'connected_gene': 'ST3GAL1', 'score': 12.68}, {'connected_gene': 'WISP1', 'score': 11.43}, {'connected_gene': 'SLA', 'score': 11.37}, {'connected_gene': 'NDRG1', 'score': 1.22}, {'connected_gene': 'GC08M133177', 'score': 0.28}]
chr8 GH08I133302 133302167 133304149 1.51 [{'connected_gene': 'NDRG1', 'score': 550.77}, {'connected_gene': 'ST3GAL1', 'score': 9.11}, {'connected_gene': 'RPL32P20', 'score': 0.34}]
chr8 GH08I133245 133245036 133251916 1.38 [{'connected_gene': 'NDRG1', 'score': 15.23}, {'connected_gene': 'PHF20L1', 'score': 1.52}, {'connected_gene': 'GC08M133232', 'score': 0.39}]
chr8 GH08I133319 133319844 133325891 1.03 [{'connected_gene': 'NDRG1', 'score': 12.38}, {'connected_gene': 'SLA', 'score': 9.56}, {'connected_gene': 'RPL32P20', 'score': 0.77}]
chr8 GH08I133327 133327911 133330251 0.88 [{'connected_gene': 'NDRG1', 'score': 12.28}, {'connected_gene': 'RPL32P20', 'score': 0.77}, {'connected_gene': 'LOC105375772', 'score': 0.29}]
chr8 GH08I133340 133340160 133342604 1.11 [{'connected_gene': 'NDRG1', 'score': 11.51}, {'connected_gene': 'RPL32P20', 'score': 0.37}, {'connected_gene': 'LOC105375772', 'score': 0.37}]
chr8 GH08I133257 133257945 133263233 0.77 [{'connected_gene': 'NDRG1', 'score': 11.76}, {'connected_gene': 'ENSG00000253561', 'score': 4.72}, {'connected_gene': 'GC08M133232', 'score': 0.31}]
chr8 GH08I133287 133287484 133300561 2.47 [{'connected_gene': 'NDRG1', 'score': 550.44}, {'connected_gene': 'ENSG00000223697', 'score': 12.54}, {'connected_gene': 'GC08M133232', 'score': 0.22}]
chr8 GH08I133286 133285565 133285671 0.51 [{'connected_gene': 'NDRG1', 'score': 0.37}, {'connected_gene': 'GC08M133232', 'score': 0.23}]
chr8 GH08I133284 133284099 133284882 0.43 [{'connected_gene': 'NDRG1', 'score': 0.37}, {'connected_gene': 'GC08M133232', 'score': 0.23}]
chr8 GH08I133274 133274593 133276099 0.57 [{'connected_gene': 'NDRG1', 'score': 0.31}, {'connected_gene': 'GC08M133232', 'score': 0.26}]
chr8 GH08I133282 133282274 133284080 0.63 [{'connected_gene': 'NDRG1', 'score': 0.37}, {'connected_gene': 'GC08M133232', 'score': 0.25}]
chr8 GH08I133278 133278033 133279200 0.51 [{'connected_gene': 'NDRG1', 'score': 0.34}, {'connected_gene': 'GC08M133232', 'score': 0.26}]
chr8 GH08I133269 133269981 133270206 0.51 [{'connected_gene': 'NDRG1', 'score': 0.29}, {'connected_gene': 'GC08M133232', 'score': 0.28}]
chr8 GH08I133281 133281378 133281966 0.2 [{'connected_gene': 'NDRG1', 'score': 0.34}, {'connected_gene': 'GC08M133232', 'score': 0.25}]
chr8 GH08I133285 133285749 133286153 0.31 [{'connected_gene': 'NDRG1', 'score': 0.37}, {'connected_gene': 'GC08M133232', 'score': 0.23}]
chr8 GH08I133270 133270490 133271810 0.67 [{'connected_gene': 'NDRG1', 'score': 0.29}, {'connected_gene': 'GC08M133232', 'score': 0.28}]
chr8 GH08I133279 133279601 133279800 0.4 [{'connected_gene': 'NDRG1', 'score': 0.34}, {'connected_gene': 'GC08M133232', 'score': 0.25}]
chr8 GH08I133271 133271962 133273727 0.89 [{'connected_gene': 'NDRG1', 'score': 0.31}, {'connected_gene': 'GC08M133232', 'score': 0.28}]
chr8 GH08I133236 133236298 133236600 0.96 [{'connected_gene': 'GC08M133232', 'score': 0.77}, {'connected_gene': 'NDRG1', 'score': 0.2}]
chr8 GH08I133263 133263391 133263748 0.4 [{'connected_gene': 'GC08M133232', 'score': 0.31}, {'connected_gene': 'NDRG1', 'score': 0.28}]
chr8 GH08I133244 133243831 133244825 0.49 [{'connected_gene': 'GC08M133232', 'score': 0.39}, {'connected_gene': 'NDRG1', 'score': 0.22}]
chr8 GH08I133242 133242918 133243087 0.96 [{'connected_gene': 'ENSG00000223697', 'score': 16.87}, {'connected_gene': 'GC08M133232', 'score': 0.44}, {'connected_gene': 'NDRG1', 'score': 0.22}]
chr8 GH08I133255 133255009 133257233 0.63 [{'connected_gene': 'GC08M133232', 'score': 0.34}, {'connected_gene': 'NDRG1', 'score': 0.25}]
chr8 GH08I133264 133263778 133265735 0.72 [{'connected_gene': 'GC08M133232', 'score': 0.29}, {'connected_gene': 'NDRG1', 'score': 0.28}]
chr8 GH08I133243 133243118 133243267 0.66 [{'connected_gene': 'GC08M133232', 'score': 0.44}, {'connected_gene': 'NDRG1', 'score': 0.22}]
chr8 GH08I133252 133252342 133253812 0.43 [{'connected_gene': 'GC08M133232', 'score': 0.37}, {'connected_gene': 'NDRG1', 'score': 0.25}]
chr8 GH08I133240 133240328 133241168 0.31 [{'connected_gene': 'GC08M133232', 'score': 0.44}, {'connected_gene': 'NDRG1', 'score': 0.21}]
chr8 GH08I133234 133234151 133236203 0.9 [{'connected_gene': 'GC08M133232', 'score': 550.77}, {'connected_gene': 'NDRG1', 'score': 0.2}]
chr8 GH08I133241 133241759 133242735 0.75 [{'connected_gene': 'ENSG00000223697', 'score': 16.87}, {'connected_gene': 'GC08M133232', 'score': 0.44}, {'connected_gene': 'NDRG1', 'score': 0.22}]
chr8 GH08I133266 133266937 133269504 0.46 [{'connected_gene': 'GC08M133232', 'score': 0.29}, {'connected_gene': 'NDRG1', 'score': 0.29}]