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
ENST00000300692 [[118209668, 118209942], [118210165, 118210209], [118210489, 118210621], [118211089, 118211308], [118213267, 118213459]] [[118209876, 118209942], [118210165, 118210209], [118210489, 118210621], [118211089, 118211308], [118213267, 118213322]]
ENST00000534687 [[118209790, 118209942], [118210165, 118210209], [118211089, 118211308], [118211584, 118211652]] [[118209876, 118209942], [118210165, 118210209], [118211089, 118211308], [118211584, 118211652]]
ENST00000529594 [[118209791, 118209942], [118210165, 118210209], [118210489, 118210621], [118213267, 118213362]] [[118209876, 118209942], [118210165, 118210209], [118210489, 118210621], [118213267, 118213322]]
ENST00000526561 [[118209808, 118209942], [118210165, 118210209], [118213267, 118213346]] None
ENST00000392884 [[118209808, 118209942], [118210165, 118210209], [118211089, 118211308], [118213267, 118213346]] [[118209876, 118209942], [118210165, 118210209], [118211089, 118211308], [118213267, 118213322]]
NM_000732 [[118209788, 118209942], [118210165, 118210209], [118210489, 118210621], [118211089, 118211308], [118213267, 118213459]] [[118209876, 118209942], [118210165, 118210209], [118210489, 118210621], [118211089, 118211308], [118213267, 118213322]]
NM_001040651 [[118209788, 118209942], [118210165, 118210209], [118211089, 118211308], [118213267, 118213459]] [[118209876, 118209942], [118210165, 118210209], [118211089, 118211308], [118213267, 118213322]]
Promoter
Chrom Start End Description
chr11 118213331 118213357 CAGE_peak_2_at_CD3D_5end
chr11 118213360 118213405 CAGE_peak_1_at_CD3D_5end
chr11 118213408 118213435 CAGE_peak_3_at_CD3D_5end
chr11 118213455 118213462 CAGE_peak_4_at_CD3D_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I118309 118309617 118320584 1.68 [{'connected_gene': 'UBE4A', 'score': 25.69}, {'connected_gene': 'CD3G', 'score': 17.57}, {'connected_gene': 'CD3D', 'score': 17.01}, {'connected_gene': 'ARCN1', 'score': 16.58}, {'connected_gene': 'MPZL3', 'score': 15.02}, {'connected_gene': 'ENSG00000254909', 'score': 14.61}, {'connected_gene': 'KMT2A', 'score': 12.85}, {'connected_gene': 'RPL23AP64', 'score': 12.8}, {'connected_gene': 'DPAGT1', 'score': 12.72}, {'connected_gene': 'ENSG00000254428', 'score': 12.68}, {'connected_gene': 'BCL9L', 'score': 11.25}, {'connected_gene': 'CD3E', 'score': 10.8}, {'connected_gene': 'RPS25', 'score': 10.29}, {'connected_gene': 'ENSG00000255384', 'score': 10.14}, {'connected_gene': 'CCDC84', 'score': 10.03}, {'connected_gene': 'HMBS', 'score': 5.0}, {'connected_gene': 'ENSG00000271751', 'score': 4.84}, {'connected_gene': 'IFT46', 'score': 4.79}, {'connected_gene': 'DDX6', 'score': 1.86}, {'connected_gene': 'ENSG00000254992', 'score': 0.44}]
chr11 GH11I118282 118282633 118282836 0.52 [{'connected_gene': 'CD3E', 'score': 19.32}, {'connected_gene': 'UBE4A', 'score': 11.63}, {'connected_gene': 'SCN4B', 'score': 11.59}, {'connected_gene': 'CD3D', 'score': 11.1}, {'connected_gene': 'CD3G', 'score': 11.1}, {'connected_gene': 'ENSG00000280032', 'score': 0.37}]
chr11 GH11I118281 118281366 118281515 0.38 [{'connected_gene': 'CD3E', 'score': 11.89}, {'connected_gene': 'UBE4A', 'score': 11.63}, {'connected_gene': 'SCN4B', 'score': 11.59}, {'connected_gene': 'CD3D', 'score': 11.1}, {'connected_gene': 'CD3G', 'score': 11.1}, {'connected_gene': 'ENSG00000280032', 'score': 0.37}]
chr11 GH11I118283 118283729 118284121 0.38 [{'connected_gene': 'CD3E', 'score': 11.99}, {'connected_gene': 'CD3D', 'score': 11.57}, {'connected_gene': 'CD3G', 'score': 11.56}, {'connected_gene': 'KMT2A', 'score': 9.76}, {'connected_gene': 'ENSG00000255384', 'score': 9.76}, {'connected_gene': 'MPZL3', 'score': 7.56}, {'connected_gene': 'ENSG00000280032', 'score': 0.37}]
chr11 GH11I118334 118334208 118336443 0.31 [{'connected_gene': 'CD3E', 'score': 5.01}, {'connected_gene': 'IFT46', 'score': 4.92}, {'connected_gene': 'CD3D', 'score': 0.44}, {'connected_gene': 'ENSG00000254992', 'score': 0.39}]
chr11 GH11I118273 118273059 118278398 1.43 [{'connected_gene': 'CD3E', 'score': 17.04}, {'connected_gene': 'MPZL3', 'score': 14.46}, {'connected_gene': 'SCN4B', 'score': 12.38}, {'connected_gene': 'CD3G', 'score': 11.91}, {'connected_gene': 'CD3D', 'score': 11.91}, {'connected_gene': 'UBE4A', 'score': 11.87}, {'connected_gene': 'ENSG00000271751', 'score': 5.08}, {'connected_gene': 'JAML', 'score': 4.4}, {'connected_gene': 'MPZL2', 'score': 2.29}, {'connected_gene': 'FXYD6', 'score': 1.2}, {'connected_gene': 'ENSG00000280032', 'score': 0.39}]
chr11 GH11I118320 118320659 118320804 0.58 [{'connected_gene': 'CD3D', 'score': 13.31}, {'connected_gene': 'CD3G', 'score': 13.31}, {'connected_gene': 'ENSG00000255384', 'score': 10.13}, {'connected_gene': 'KMT2A', 'score': 10.12}, {'connected_gene': 'ENSG00000254992', 'score': 0.77}, {'connected_gene': 'CD3E', 'score': 0.37}]
chr11 GH11I118110 118110662 118111494 0.66 [{'connected_gene': 'SCN4B', 'score': 12.01}, {'connected_gene': 'TMPRSS4', 'score': 11.22}, {'connected_gene': 'CD3D', 'score': 10.84}, {'connected_gene': 'CD3G', 'score': 10.84}, {'connected_gene': 'IL10RA', 'score': 9.51}, {'connected_gene': 'LOC105369517', 'score': 0.39}, {'connected_gene': 'PIR33394', 'score': 0.34}]
chr11 GH11I118187 118187001 118187400 0.31 [{'connected_gene': 'SCN2B', 'score': 16.72}, {'connected_gene': 'SCN4B', 'score': 12.32}, {'connected_gene': 'CD3D', 'score': 12.13}, {'connected_gene': 'CD3G', 'score': 12.13}, {'connected_gene': 'CD3E', 'score': 11.84}, {'connected_gene': 'TMPRSS4', 'score': 10.29}, {'connected_gene': 'HSPE1P18', 'score': 0.34}]
chr11 GH11I118184 118184601 118185800 0.4 [{'connected_gene': 'SCN2B', 'score': 15.73}, {'connected_gene': 'SCN4B', 'score': 12.32}, {'connected_gene': 'CD3D', 'score': 12.13}, {'connected_gene': 'CD3G', 'score': 12.13}, {'connected_gene': 'CD3E', 'score': 11.84}, {'connected_gene': 'TMPRSS4', 'score': 10.29}, {'connected_gene': 'HSPE1P18', 'score': 0.34}]
chr11 GH11I118174 118174646 118176755 1.48 [{'connected_gene': 'SCN2B', 'score': 562.58}, {'connected_gene': 'GC11P118174', 'score': 550.77}, {'connected_gene': 'SCN4B', 'score': 12.67}, {'connected_gene': 'CD3G', 'score': 11.06}, {'connected_gene': 'CD3D', 'score': 11.06}, {'connected_gene': 'CD3E', 'score': 10.84}, {'connected_gene': 'TMPRSS4', 'score': 10.35}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.7}, {'connected_gene': 'FXYD6', 'score': 9.7}, {'connected_gene': 'TTC36', 'score': 8.92}]
chr11 GH11I118146 118145166 118145315 0.76 [{'connected_gene': 'SCN2B', 'score': 11.84}, {'connected_gene': 'CD3G', 'score': 11.4}, {'connected_gene': 'CD3D', 'score': 11.4}, {'connected_gene': 'CD3E', 'score': 10.61}, {'connected_gene': 'TMPRSS4', 'score': 10.04}, {'connected_gene': 'TMPRSS13', 'score': 9.36}, {'connected_gene': 'SCN4B', 'score': 0.44}, {'connected_gene': 'PIR33394', 'score': 0.39}]
chr11 GH11I118145 118145366 118146201 1.45 [{'connected_gene': 'SCN2B', 'score': 11.84}, {'connected_gene': 'CD3G', 'score': 11.4}, {'connected_gene': 'CD3D', 'score': 11.4}, {'connected_gene': 'CD3E', 'score': 10.61}, {'connected_gene': 'TMPRSS4', 'score': 10.04}, {'connected_gene': 'TMPRSS13', 'score': 9.36}, {'connected_gene': 'SCN4B', 'score': 0.44}, {'connected_gene': 'PIR33394', 'score': 0.39}]
chr11 GH11I118171 118171342 118172051 0.99 [{'connected_gene': 'SCN2B', 'score': 11.7}, {'connected_gene': 'CD3G', 'score': 10.85}, {'connected_gene': 'CD3D', 'score': 10.85}, {'connected_gene': 'CD3E', 'score': 10.83}, {'connected_gene': 'TMPRSS4', 'score': 10.35}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.7}, {'connected_gene': 'FXYD6', 'score': 9.7}, {'connected_gene': 'TTC36', 'score': 8.92}, {'connected_gene': 'GC11P118174', 'score': 0.77}, {'connected_gene': 'SCN4B', 'score': 0.37}]
chr11 GH11I117794 117794782 117797669 1.3 [{'connected_gene': 'DSCAML1', 'score': 575.05}, {'connected_gene': 'FXYD2', 'score': 14.16}, {'connected_gene': 'ENSG00000254844', 'score': 11.51}, {'connected_gene': 'CD3D', 'score': 4.76}, {'connected_gene': 'GC11P117669', 'score': 0.13}]
chr11 GH11I118045 118045018 118046915 0.92 [{'connected_gene': 'TMPRSS4', 'score': 17.71}, {'connected_gene': 'IL10RA', 'score': 13.64}, {'connected_gene': 'TMPRSS13', 'score': 10.83}, {'connected_gene': 'DSCAML1', 'score': 10.51}, {'connected_gene': 'ENSG00000254844', 'score': 10.51}, {'connected_gene': 'FXYD6-FXYD2', 'score': 10.4}, {'connected_gene': 'FXYD6', 'score': 10.4}, {'connected_gene': 'CD3G', 'score': 10.32}, {'connected_gene': 'CD3E', 'score': 10.04}, {'connected_gene': 'CD3D', 'score': 5.7}, {'connected_gene': 'MPZL3', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.27}, {'connected_gene': 'UBE4A', 'score': 2.38}, {'connected_gene': 'GC11M118037', 'score': 0.77}, {'connected_gene': 'RN7SL828P', 'score': 0.34}, {'connected_gene': 'SMIM35', 'score': 0.26}]
chr11 GH11I117785 117785815 117788395 0.69 [{'connected_gene': 'FXYD2', 'score': 12.87}, {'connected_gene': 'CD3D', 'score': 5.52}, {'connected_gene': 'DSCAML1', 'score': 5.04}, {'connected_gene': 'GC11P117669', 'score': 0.13}]
chr11 GH11I118165 118165770 118166626 0.52 [{'connected_gene': 'CD3G', 'score': 10.66}, {'connected_gene': 'CD3D', 'score': 10.66}, {'connected_gene': 'CD3E', 'score': 10.65}, {'connected_gene': 'TMPRSS13', 'score': 9.68}, {'connected_gene': 'TMPRSS4', 'score': 4.94}, {'connected_gene': 'GC11P118174', 'score': 0.44}, {'connected_gene': 'SCN2B', 'score': 0.39}, {'connected_gene': 'SCN4B', 'score': 0.39}]
chr11 GH11I118336 118336905 118346800 1.79 [{'connected_gene': 'CD3G', 'score': 550.77}, {'connected_gene': 'CD3D', 'score': 550.77}, {'connected_gene': 'LOC105369519', 'score': 8.49}, {'connected_gene': 'UBE4A', 'score': 7.05}, {'connected_gene': 'MPZL3', 'score': 5.27}, {'connected_gene': 'CD3E', 'score': 4.9}, {'connected_gene': 'TREHP1', 'score': 4.87}, {'connected_gene': 'IFT46', 'score': 4.48}, {'connected_gene': 'ENSG00000254992', 'score': 0.37}]
chr11 GH11I117997 117997315 118014816 1.75 [{'connected_gene': 'IL10RA', 'score': 30.08}, {'connected_gene': 'ENSG00000254528', 'score': 15.5}, {'connected_gene': 'ARCN1', 'score': 13.3}, {'connected_gene': 'RNF214', 'score': 12.97}, {'connected_gene': 'KMT2A', 'score': 12.55}, {'connected_gene': 'ENSG00000254909', 'score': 12.19}, {'connected_gene': 'UBE4A', 'score': 12.12}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'FXYD2', 'score': 11.07}, {'connected_gene': 'TMPRSS13', 'score': 10.99}, {'connected_gene': 'RPL23AP64', 'score': 10.92}, {'connected_gene': 'BCL9L', 'score': 10.55}, {'connected_gene': 'TMPRSS4', 'score': 10.2}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.93}, {'connected_gene': 'FXYD6', 'score': 9.93}, {'connected_gene': 'RPS27P19', 'score': 9.72}, {'connected_gene': 'JAML', 'score': 6.88}, {'connected_gene': 'CD3E', 'score': 2.42}, {'connected_gene': 'CD3G', 'score': 2.23}, {'connected_gene': 'MPZL3', 'score': 2.1}, {'connected_gene': 'CD3D', 'score': 1.7}, {'connected_gene': 'ATP5MG', 'score': 1.27}, {'connected_gene': 'GC11P118003', 'score': 0.77}, {'connected_gene': 'GC11P118028', 'score': 0.34}, {'connected_gene': 'SMIM35', 'score': 0.18}]
chr11 GH11I118243 118243867 118244892 0.38 [{'connected_gene': 'MPZL3', 'score': 21.99}, {'connected_gene': 'CD3E', 'score': 10.57}, {'connected_gene': 'CD3D', 'score': 10.43}, {'connected_gene': 'CD3G', 'score': 10.43}, {'connected_gene': 'MPZL2', 'score': 5.38}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118204 118204939 118207599 0.94 [{'connected_gene': 'MPZL3', 'score': 16.51}, {'connected_gene': 'JAML', 'score': 13.86}, {'connected_gene': 'CD3G', 'score': 12.0}, {'connected_gene': 'CD3D', 'score': 12.0}, {'connected_gene': 'CD3E', 'score': 11.12}, {'connected_gene': 'IFT46', 'score': 4.21}, {'connected_gene': 'HSPE1P18', 'score': 0.77}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11 GH11I118238 118238001 118243121 1.75 [{'connected_gene': 'JAML', 'score': 32.31}, {'connected_gene': 'MPZL3', 'score': 25.47}, {'connected_gene': 'ENSG00000254909', 'score': 18.17}, {'connected_gene': 'UBE4A', 'score': 17.71}, {'connected_gene': 'BCL9L', 'score': 17.45}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.72}, {'connected_gene': 'ENSG00000254428', 'score': 14.43}, {'connected_gene': 'DPAGT1', 'score': 13.38}, {'connected_gene': 'CD3E', 'score': 12.95}, {'connected_gene': 'IL10RA', 'score': 12.5}, {'connected_gene': 'RPS25', 'score': 10.88}, {'connected_gene': 'DDX6', 'score': 9.85}, {'connected_gene': 'SCN2B', 'score': 9.53}, {'connected_gene': 'MPZL2', 'score': 5.5}, {'connected_gene': 'CD3G', 'score': 2.35}, {'connected_gene': 'CD3D', 'score': 1.66}, {'connected_gene': 'PIR54688', 'score': 0.39}, {'connected_gene': 'GC11M118231', 'score': 0.39}]
chr11 GH11I118245 118245121 118246031 0.6 [{'connected_gene': 'JAML', 'score': 16.07}, {'connected_gene': 'MPZL3', 'score': 15.81}, {'connected_gene': 'CD3E', 'score': 10.58}, {'connected_gene': 'CD3G', 'score': 10.34}, {'connected_gene': 'CD3D', 'score': 10.34}, {'connected_gene': 'MPZL2', 'score': 5.41}, {'connected_gene': 'GC11M118231', 'score': 0.37}, {'connected_gene': 'PIR54688', 'score': 0.37}]
chr11 GH11I118210 118210367 118218400 1.87 [{'connected_gene': 'JAML', 'score': 565.86}, {'connected_gene': 'MPZL3', 'score': 17.79}, {'connected_gene': 'CD3D', 'score': 12.01}, {'connected_gene': 'CD3G', 'score': 12.01}, {'connected_gene': 'CD3E', 'score': 11.12}, {'connected_gene': 'MPZL2', 'score': 5.45}, {'connected_gene': 'GC11M118201', 'score': 0.77}, {'connected_gene': 'HSPE1P18', 'score': 0.44}]
chr11 GH11I118380 118380670 118380839 0.34 [{'connected_gene': 'ATP5MG', 'score': 11.53}, {'connected_gene': 'ENSG00000254873', 'score': 11.53}, {'connected_gene': 'CD3G', 'score': 11.02}, {'connected_gene': 'CD3D', 'score': 11.02}, {'connected_gene': 'ENSG00000255384', 'score': 10.42}, {'connected_gene': 'KMT2A', 'score': 10.41}, {'connected_gene': 'CD3E', 'score': 10.18}, {'connected_gene': 'TTC36', 'score': 10.17}, {'connected_gene': 'LOC101929089', 'score': 9.99}, {'connected_gene': 'TMEM25', 'score': 9.99}, {'connected_gene': 'PHLDB1', 'score': 9.82}, {'connected_gene': 'UBE4A', 'score': 0.34}]
chr11 GH11I118699 118699100 118701138 1.15 [{'connected_gene': 'LOC105369519', 'score': 42.95}, {'connected_gene': 'IFT46', 'score': 22.96}, {'connected_gene': 'FXYD6', 'score': 11.57}, {'connected_gene': 'ENSG00000272186', 'score': 10.76}, {'connected_gene': 'TMEM25', 'score': 10.48}, {'connected_gene': 'CD3E', 'score': 8.63}, {'connected_gene': 'CD3G', 'score': 7.53}, {'connected_gene': 'CCDC84', 'score': 5.29}, {'connected_gene': 'KMT2A', 'score': 5.27}, {'connected_gene': 'MPZL3', 'score': 4.29}, {'connected_gene': 'CD3D', 'score': 3.96}, {'connected_gene': 'DDX6', 'score': 3.89}, {'connected_gene': 'VPS11', 'score': 3.65}, {'connected_gene': 'RPS25', 'score': 2.6}, {'connected_gene': 'UBE4A', 'score': 2.27}, {'connected_gene': 'GC11P118703', 'score': 0.77}]
chr11 GH11I118321 118321016 118322400 1.19 [{'connected_gene': 'ENSG00000254992', 'score': 550.77}, {'connected_gene': 'CD3D', 'score': 13.31}, {'connected_gene': 'CD3G', 'score': 13.31}, {'connected_gene': 'KMT2A', 'score': 10.13}, {'connected_gene': 'ENSG00000255384', 'score': 10.13}, {'connected_gene': 'IFT46', 'score': 4.46}, {'connected_gene': 'CD3E', 'score': 0.37}]
chr11 GH11I117949 117949086 117954497 1.49 [{'connected_gene': 'GC11P117950', 'score': 550.77}, {'connected_gene': 'IL10RA', 'score': 19.37}, {'connected_gene': 'TMPRSS13', 'score': 16.59}, {'connected_gene': 'CD3E', 'score': 12.3}, {'connected_gene': 'CD3G', 'score': 11.69}, {'connected_gene': 'DSCAML1', 'score': 11.49}, {'connected_gene': 'ENSG00000254844', 'score': 11.49}, {'connected_gene': 'FXYD6-FXYD2', 'score': 11.05}, {'connected_gene': 'FXYD6', 'score': 11.05}, {'connected_gene': 'ENSG00000254528', 'score': 10.97}, {'connected_gene': 'FXYD2', 'score': 10.97}, {'connected_gene': 'CD3D', 'score': 7.46}, {'connected_gene': 'MPZL3', 'score': 5.72}, {'connected_gene': 'KMT2A', 'score': 4.68}, {'connected_gene': 'UBE4A', 'score': 2.82}, {'connected_gene': 'JAML', 'score': 1.14}]

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