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
ENST00000264663 [[43602824, 43602992], [43609244, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43707507]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
ENST00000344920 [[43603228, 43603396], [43609244, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43705334]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
ENST00000512996 [[43603300, 43603396], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43705588]] [[43615961, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
ENST00000503651 [[43645458, 43645612], [43648025, 43648553]] [[43645458, 43645612], [43648025, 43648045]]
ENST00000505678 [[43602793, 43602851], [43609244, 43609448], [43613009, 43613239], [43615949, 43616165]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616165]]
ENST00000512422 [[43602806, 43602855], [43609244, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619186]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619186]]
ENST00000515208 [[43613192, 43613752], [43615949, 43616136]] [[43615961, 43616136]]
ENST00000506893 [[43644846, 43644904], [43645458, 43645767]] None
ENST00000513390 [[43651885, 43651986], [43653119, 43653682]] None
ENST00000503059 [[43677880, 43677908], [43702722, 43702838], [43704356, 43704846]] [[43677880, 43677908], [43702722, 43702729]]
NM_012343 [[43602790, 43602992], [43609244, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43705668]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
NM_001331026 [[43603228, 43603396], [43609244, 43609448], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43705668]] [[43615961, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
NM_182977 [[43603228, 43603396], [43609244, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43705668]] [[43609297, 43609448], [43613009, 43613239], [43615949, 43616167], [43619133, 43619221], [43624133, 43624222], [43628301, 43628489], [43644293, 43644427], [43644712, 43644904], [43645458, 43645612], [43649248, 43649410], [43650578, 43650689], [43651840, 43651986], [43653119, 43653315], [43655941, 43656175], [43656754, 43656915], [43659272, 43659452], [43675612, 43675772], [43677826, 43677908], [43700220, 43700339], [43702722, 43702838], [43704356, 43704506]]
Promoter
Chrom Start End Description
chr5 43602750 43602838 CAGE_peak_2_at_NNT_5end
chr5 43603259 43603356 CAGE_peak_1_at_NNT_5end
chr5 43658971 43658985 CAGE_peak_3_at_NNT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I043482 43482216 43487798 2.1 [{'connected_gene': 'TMEM267', 'score': 588.89}, {'connected_gene': 'ENSG00000249492', 'score': 560.98}, {'connected_gene': 'ZNF131', 'score': 63.79}, {'connected_gene': 'EEF1A1P19', 'score': 39.31}, {'connected_gene': 'RPL29P12', 'score': 23.86}, {'connected_gene': 'C5orf34', 'score': 14.46}, {'connected_gene': 'NNT', 'score': 13.17}, {'connected_gene': 'CCL28', 'score': 12.7}, {'connected_gene': 'HMGCS1', 'score': 10.55}, {'connected_gene': 'ENSG00000248240', 'score': 8.57}]
chr5 GH05I043409 43409380 43410732 0.89 [{'connected_gene': 'TMEM267', 'score': 5.79}, {'connected_gene': 'NNT', 'score': 4.04}, {'connected_gene': 'CCL28', 'score': 0.77}, {'connected_gene': 'ENSG00000188850', 'score': 0.19}]
chr5 GH05I043771 43771783 43774503 1.52 [{'connected_gene': 'TMEM267', 'score': 17.8}, {'connected_gene': 'NNT-AS1', 'score': 12.33}, {'connected_gene': 'ZNF131', 'score': 11.15}, {'connected_gene': 'FGF10-AS1', 'score': 9.95}, {'connected_gene': 'NNT', 'score': 5.39}, {'connected_gene': 'ENSG00000249276', 'score': 0.15}, {'connected_gene': 'RPL29P12', 'score': 0.14}]
chr5 GH05I043411 43411563 43413226 1.3 [{'connected_gene': 'CCL28', 'score': 550.77}, {'connected_gene': 'NNT', 'score': 4.66}, {'connected_gene': 'ENSG00000249492', 'score': 0.19}]
chr5 GH05I043311 43311386 43315608 2.1 [{'connected_gene': 'HMGCS1', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 51.5}, {'connected_gene': 'TMEM267', 'score': 24.81}, {'connected_gene': 'ENSG00000249492', 'score': 20.03}, {'connected_gene': 'EEF1A1P19', 'score': 12.46}, {'connected_gene': 'LOC648987', 'score': 11.46}, {'connected_gene': 'SERBP1P6', 'score': 11.1}, {'connected_gene': 'ANXA2R', 'score': 10.25}, {'connected_gene': 'ENSG00000272382', 'score': 9.97}, {'connected_gene': 'RPL29P12', 'score': 9.72}, {'connected_gene': 'NNT', 'score': 8.83}, {'connected_gene': 'ENSG00000261604', 'score': 5.39}, {'connected_gene': 'NNT-AS1', 'score': 4.75}, {'connected_gene': 'GC05M043287', 'score': 0.34}, {'connected_gene': 'GC05P043232', 'score': 0.18}]
chr5 GH05I043347 43347413 43349408 0.57 [{'connected_gene': 'HMGCS1', 'score': 10.49}, {'connected_gene': 'NNT', 'score': 8.58}, {'connected_gene': 'ENSG00000188850', 'score': 0.39}, {'connected_gene': 'CCL28', 'score': 0.21}, {'connected_gene': 'GC05P043232', 'score': 0.13}]
chr5 GH05I043281 43281539 43282662 0.68 [{'connected_gene': 'HMGCS1', 'score': 11.59}, {'connected_gene': 'NNT', 'score': 8.57}, {'connected_gene': 'ENSG00000261604', 'score': 0.44}, {'connected_gene': 'GC05P043232', 'score': 0.25}, {'connected_gene': 'LOC100419036', 'score': 0.25}]
chr5 GH05I043656 43656245 43661399 0.54 [{'connected_gene': 'NNT', 'score': 18.53}, {'connected_gene': 'TMEM267', 'score': 13.8}, {'connected_gene': 'NNT-AS1', 'score': 13.62}, {'connected_gene': 'ZNF131', 'score': 10.25}, {'connected_gene': 'GC05M043668', 'score': 0.44}]
chr5 GH05I043369 43369640 43370996 0.31 [{'connected_gene': 'NNT', 'score': 7.82}, {'connected_gene': 'CCL28', 'score': 7.65}, {'connected_gene': 'ENSG00000248240', 'score': 6.17}, {'connected_gene': 'NNT-AS1', 'score': 4.8}, {'connected_gene': 'ENSG00000188850', 'score': 0.29}, {'connected_gene': 'GC05P043232', 'score': 0.12}]
chr5 GH05I043425 43425619 43426662 0.79 [{'connected_gene': 'NNT', 'score': 5.24}, {'connected_gene': 'CCL28', 'score': 0.39}, {'connected_gene': 'ENSG00000249492', 'score': 0.22}]
chr5 GH05I043306 43306039 43306248 0.65 [{'connected_gene': 'NNT', 'score': 8.74}, {'connected_gene': 'HMGCS1', 'score': 0.44}, {'connected_gene': 'GC05M043287', 'score': 0.37}, {'connected_gene': 'GC05P043232', 'score': 0.19}]
chr5 GH05I043619 43619113 43621410 0.67 [{'connected_gene': 'NNT', 'score': 19.38}, {'connected_gene': 'NNT-AS1', 'score': 14.51}, {'connected_gene': 'TMEM267', 'score': 6.05}, {'connected_gene': 'GC05M043668', 'score': 0.25}]
chr5 GH05I043375 43375627 43377489 0.38 [{'connected_gene': 'NNT', 'score': 8.54}, {'connected_gene': 'NNT-AS1', 'score': 4.3}, {'connected_gene': 'CCL28', 'score': 0.28}, {'connected_gene': 'ENSG00000188850', 'score': 0.26}, {'connected_gene': 'GC05P043232', 'score': 0.11}]
chr5 GH05I043367 43367084 43369144 0.56 [{'connected_gene': 'NNT', 'score': 8.54}, {'connected_gene': 'ENSG00000248240', 'score': 5.99}, {'connected_gene': 'NNT-AS1', 'score': 4.8}, {'connected_gene': 'ENSG00000188850', 'score': 0.29}, {'connected_gene': 'CCL28', 'score': 0.26}, {'connected_gene': 'GC05P043232', 'score': 0.12}]
chr5 GH05I043838 43838871 43840176 0.2 [{'connected_gene': 'NNT', 'score': 12.71}, {'connected_gene': 'NNT-AS1', 'score': 12.37}, {'connected_gene': 'ENSG00000249276', 'score': 0.29}, {'connected_gene': 'RPL29P12', 'score': 0.09}]
chr5 GH05I043768 43768891 43771183 0.99 [{'connected_gene': 'NNT', 'score': 14.7}, {'connected_gene': 'NNT-AS1', 'score': 12.33}, {'connected_gene': 'RPL29P12', 'score': 0.15}, {'connected_gene': 'ENSG00000249276', 'score': 0.15}]
chr5 GH05I043636 43636259 43636408 0.51 [{'connected_gene': 'NNT', 'score': 11.74}, {'connected_gene': 'NNT-AS1', 'score': 11.74}, {'connected_gene': 'GC05M043668', 'score': 0.29}]
chr5 GH05I043626 43626962 43628990 0.64 [{'connected_gene': 'NNT', 'score': 18.81}, {'connected_gene': 'NNT-AS1', 'score': 13.74}, {'connected_gene': 'GC05M043668', 'score': 0.28}]
chr5 GH05I043631 43631201 43631568 1.12 [{'connected_gene': 'NNT', 'score': 20.34}, {'connected_gene': 'NNT-AS1', 'score': 11.59}, {'connected_gene': 'GC05M043668', 'score': 0.28}]
chr5 GH05I043662 43662967 43665250 0.31 [{'connected_gene': 'NNT', 'score': 19.23}, {'connected_gene': 'NNT-AS1', 'score': 13.61}, {'connected_gene': 'GC05M043668', 'score': 0.77}]
chr5 GH05I043554 43554770 43557978 2.04 [{'connected_gene': 'PAIP1', 'score': 550.77}, {'connected_gene': 'NNT', 'score': 24.58}, {'connected_gene': 'C5orf34', 'score': 21.91}, {'connected_gene': 'ENSG00000249492', 'score': 19.54}, {'connected_gene': 'ENSG00000248240', 'score': 16.59}, {'connected_gene': 'EEF1A1P19', 'score': 12.85}, {'connected_gene': 'NNT-AS1', 'score': 12.14}, {'connected_gene': 'RPL29P12', 'score': 11.68}, {'connected_gene': 'FGF10-AS1', 'score': 10.76}, {'connected_gene': 'LOC153684', 'score': 10.7}, {'connected_gene': 'ENSG00000272382', 'score': 10.4}, {'connected_gene': 'ANXA2R', 'score': 10.09}, {'connected_gene': 'ENSG00000248554', 'score': 9.95}, {'connected_gene': 'ZNF131', 'score': 9.76}, {'connected_gene': 'CCL28', 'score': 7.69}]
chr5 GH05I043661 43661715 43662742 0.2 [{'connected_gene': 'NNT-AS1', 'score': 13.62}, {'connected_gene': 'TMEM267', 'score': 6.3}, {'connected_gene': 'GC05M043668', 'score': 0.44}, {'connected_gene': 'NNT', 'score': 0.22}]
chr5 GH05I043601 43601213 43604843 2.03 [{'connected_gene': 'NNT-AS1', 'score': 564.77}, {'connected_gene': 'NNT', 'score': 564.34}, {'connected_gene': 'RPL29P12', 'score': 21.07}, {'connected_gene': 'TMEM267', 'score': 13.13}, {'connected_gene': 'ZNF131', 'score': 12.99}, {'connected_gene': 'EEF1A1P19', 'score': 11.93}, {'connected_gene': 'ANXA2R', 'score': 10.21}, {'connected_gene': 'ENSG00000272382', 'score': 9.94}, {'connected_gene': 'CCL28', 'score': 7.34}]
chr5 GH05I043649 43649109 43649862 0.51 [{'connected_gene': 'NNT-AS1', 'score': 13.64}, {'connected_gene': 'NNT', 'score': 4.95}, {'connected_gene': 'GC05M043668', 'score': 0.37}]
chr5 GH05I043635 43635262 43636175 0.51 [{'connected_gene': 'NNT-AS1', 'score': 25.14}, {'connected_gene': 'NNT', 'score': 11.74}, {'connected_gene': 'GC05M043668', 'score': 0.29}]
chr5 GH05I043336 43336379 43336508 0.87 [{'connected_gene': 'ENSG00000188850', 'score': 550.77}, {'connected_gene': 'TMEM267', 'score': 53.9}, {'connected_gene': 'ZNF131', 'score': 48.4}, {'connected_gene': 'EEF1A1P19', 'score': 23.09}, {'connected_gene': 'AMD1P3', 'score': 22.99}, {'connected_gene': 'RPL29P12', 'score': 21.62}, {'connected_gene': 'ENSG00000249492', 'score': 19.61}, {'connected_gene': 'LOC153684', 'score': 10.73}, {'connected_gene': 'ENSG00000248554', 'score': 10.51}, {'connected_gene': 'ENSG00000272382', 'score': 10.43}, {'connected_gene': 'ENSG00000248240', 'score': 10.21}, {'connected_gene': 'ANXA2R', 'score': 10.12}, {'connected_gene': 'PAIP1', 'score': 9.86}, {'connected_gene': 'NNT', 'score': 4.79}, {'connected_gene': 'CCL28', 'score': 0.18}, {'connected_gene': 'GC05P043232', 'score': 0.15}]
chr5 GH05I043513 43513199 43516253 2.06 [{'connected_gene': 'ENSG00000248240', 'score': 559.3}, {'connected_gene': 'C5orf34', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 31.92}, {'connected_gene': 'EEF1A1P19', 'score': 22.77}, {'connected_gene': 'RPL29P12', 'score': 20.96}, {'connected_gene': 'ENSG00000249492', 'score': 20.24}, {'connected_gene': 'NNT', 'score': 13.5}, {'connected_gene': 'LOC648987', 'score': 11.44}, {'connected_gene': 'ANXA2R', 'score': 10.23}, {'connected_gene': 'ENSG00000272382', 'score': 9.95}, {'connected_gene': 'ENSG00000248554', 'score': 0.77}, {'connected_gene': 'LOC105374749', 'score': 0.77}]
chr5 GH05I043648 43648670 43648688 0.4 [{'connected_gene': 'GC05M043668', 'score': 0.37}, {'connected_gene': 'NNT', 'score': 0.25}, {'connected_gene': 'NNT-AS1', 'score': 0.25}]

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