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
ENST00000504123 [[78634540, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740386, 78740522]] [[78641584, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740386, 78740391]]
ENST00000264903 [[78634540, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740544]] [[78641584, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740462]]
ENST00000515506 [[78639174, 78641797], [78647459, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740127, 78740217]] [[78641790, 78641797], [78647459, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740127, 78740217]]
ENST00000512485 [[78641383, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740743, 78740769]] [[78641584, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740743, 78740769]]
ENST00000504804 [[78641391, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695866], [78697424, 78697546], [78740457, 78740530]] [[78695852, 78695866], [78697424, 78697546], [78740457, 78740462]]
ENST00000505983 [[78647319, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78663584, 78663626]] [[78647319, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78663584, 78663626]]
ENST00000508371 [[78650030, 78650235], [78652540, 78653035]] None
ENST00000506166 [[78663356, 78663449], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740386, 78740520]] None
ENST00000515441 [[78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740544]] [[78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740462]]
NM_001286790 [[78634540, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740386, 78740544]] [[78641584, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740386, 78740391]]
NM_144571 [[78634540, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740544]] [[78641584, 78641797], [78647320, 78647523], [78650007, 78650235], [78652540, 78652692], [78663294, 78663449], [78665871, 78666029], [78669469, 78669538], [78678015, 78678105], [78694234, 78694320], [78695683, 78695870], [78697424, 78697546], [78740457, 78740462]]
Promoter
Chrom Start End Description
chr4 78652737 78652763 CAGE_peak_14_at_CNOT6L_5end
chr4 78740483 78740502 CAGE_peak_2_at_CNOT6L_5end
chr4 78740511 78740539 CAGE_peak_1_at_CNOT6L_5end
chr4 78740822 78740834 CAGE_peak_7_at_CNOT6L_5end
chr4 78741255 78741266 CAGE_peak_3_at_CNOT6L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I077151 77151785 77160165 2.52 [{'connected_gene': 'CCNG2', 'score': 558.22}, {'connected_gene': 'LOC101928864', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 42.0}, {'connected_gene': 'RPL7P17', 'score': 9.98}, {'connected_gene': 'RNU6-1187P', 'score': 0.44}, {'connected_gene': 'GC04M077151', 'score': 0.44}]
chr4 GH04I078251 78251503 78253626 0.43 [{'connected_gene': 'FRAS1', 'score': 4.33}, {'connected_gene': 'CNOT6L', 'score': 4.28}, {'connected_gene': 'GC04M078185', 'score': 0.37}, {'connected_gene': 'SERBP1P5', 'score': 0.19}]
chr4 GH04I077860 77860527 77864402 2.32 [{'connected_gene': 'MRPL1', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 82.19}, {'connected_gene': 'SERBP1P5', 'score': 24.82}, {'connected_gene': 'RPL7P17', 'score': 11.09}, {'connected_gene': 'ENSG00000250214', 'score': 0.77}]
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 GH04I078691 78691117 78695093 1.73 [{'connected_gene': 'BMP2K', 'score': 38.79}, {'connected_gene': 'CNOT6L', 'score': 26.09}, {'connected_gene': 'LINC00989', 'score': 16.46}, {'connected_gene': 'SERBP1P5', 'score': 15.19}, {'connected_gene': 'OR7E94P', 'score': 13.66}, {'connected_gene': 'ENSG00000200998', 'score': 12.02}, {'connected_gene': 'RPS21P3', 'score': 11.57}, {'connected_gene': 'GC04P078707', 'score': 0.39}, {'connected_gene': 'HIGD1AP13', 'score': 0.26}]
chr4 GH04I078621 78621414 78631960 1.68 [{'connected_gene': 'BMP2K', 'score': 18.44}, {'connected_gene': 'CNOT6L', 'score': 11.51}, {'connected_gene': 'RPS21P3', 'score': 11.43}, {'connected_gene': 'LINC01094', 'score': 8.57}, {'connected_gene': 'LINC01088', 'score': 5.68}, {'connected_gene': 'GC04M078633', 'score': 0.44}, {'connected_gene': 'ENSG00000200998', 'score': 0.44}, {'connected_gene': 'ANXA3', 'score': 0.18}]
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 GH04I077880 77880467 77883096 0.82 [{'connected_gene': 'CNOT6L', 'score': 30.3}, {'connected_gene': 'FRAS1', 'score': 4.93}, {'connected_gene': 'HMGB1P44', 'score': 4.88}, {'connected_gene': 'MRPL1', 'score': 0.37}, {'connected_gene': 'ENSG00000250214', 'score': 0.37}, {'connected_gene': 'LOC102724916', 'score': 0.19}]
chr4 GH04I077734 77734527 77736310 1.03 [{'connected_gene': 'CNOT6L', 'score': 26.01}, {'connected_gene': 'FRAS1', 'score': 4.17}, {'connected_gene': 'GC04M077723', 'score': 0.39}, {'connected_gene': 'PIR53943', 'score': 0.28}]
chr4 GH04I077804 77804410 77808282 0.46 [{'connected_gene': 'CNOT6L', 'score': 33.04}, {'connected_gene': 'FRAS1', 'score': 4.19}, {'connected_gene': 'PIR53943', 'score': 0.29}]
chr4 GH04I077800 77800202 77801600 0.71 [{'connected_gene': 'CNOT6L', 'score': 25.72}, {'connected_gene': 'FRAS1', 'score': 4.43}, {'connected_gene': 'PIR53943', 'score': 0.31}]
chr4 GH04I077827 77826402 77826536 0.4 [{'connected_gene': 'CNOT6L', 'score': 0.44}, {'connected_gene': 'MRPL1', 'score': 0.28}]
chr4 GH04I077858 77858353 77860220 0.54 [{'connected_gene': 'CNOT6L', 'score': 38.52}, {'connected_gene': 'MRPL1', 'score': 0.77}]
chr4 GH04I077856 77856387 77857599 0.6 [{'connected_gene': 'CNOT6L', 'score': 44.8}, {'connected_gene': 'MRPL1', 'score': 0.77}]
chr4 GH04I077694 77694925 77696467 0.83 [{'connected_gene': 'CNOT6L', 'score': 4.69}, {'connected_gene': 'ENSG00000221711', 'score': 0.44}, {'connected_gene': 'GC04M077703', 'score': 0.44}, {'connected_gene': 'LOC105377297', 'score': 0.22}]
chr4 GH04I077586 77586766 77587496 1.05 [{'connected_gene': 'CNOT6L', 'score': 6.94}, {'connected_gene': 'LOC105377296', 'score': 0.77}, {'connected_gene': 'GC04P077551', 'score': 0.28}, {'connected_gene': 'CXCL13', 'score': 0.18}]
chr4 GH04I077917 77917004 77917967 0.2 [{'connected_gene': 'CNOT6L', 'score': 24.6}, {'connected_gene': 'LOC102724916', 'score': 0.28}, {'connected_gene': 'ENSG00000250214', 'score': 0.23}, {'connected_gene': 'MRPL1', 'score': 0.22}]
chr4 GH04I077816 77816358 77824361 2.77 [{'connected_gene': 'CNOT6L', 'score': 620.02}, {'connected_gene': 'RPL7P17', 'score': 11.09}, {'connected_gene': 'FRAS1', 'score': 5.12}, {'connected_gene': 'MRPL1', 'score': 0.26}]
chr4 GH04I077927 77927976 77928816 0.97 [{'connected_gene': 'CNOT6L', 'score': 20.04}, {'connected_gene': 'RPL7P17', 'score': 11.92}, {'connected_gene': 'LOC102724916', 'score': 0.34}, {'connected_gene': 'ENSG00000250214', 'score': 0.21}, {'connected_gene': 'MRPL1', 'score': 0.2}]
chr4 GH04I077826 77826678 77828717 0.51 [{'connected_gene': 'CNOT6L', 'score': 32.95}, {'connected_gene': 'HMGB1P44', 'score': 7.22}, {'connected_gene': 'MRPL1', 'score': 0.29}]
chr4 GH04I077851 77851721 77855764 1.19 [{'connected_gene': 'CNOT6L', 'score': 43.71}, {'connected_gene': 'HMGB1P44', 'score': 5.05}, {'connected_gene': 'MRPL1', 'score': 0.44}]
chr4 GH04I077920 77920229 77924036 1.24 [{'connected_gene': 'CNOT6L', 'score': 24.35}, {'connected_gene': 'HMGB1P44', 'score': 4.73}, {'connected_gene': 'LOC102724916', 'score': 0.29}, {'connected_gene': 'ENSG00000250214', 'score': 0.22}, {'connected_gene': 'MRPL1', 'score': 0.21}]
chr4 GH04I077930 77930746 77932650 0.58 [{'connected_gene': 'CNOT6L', 'score': 23.9}, {'connected_gene': 'HMGB1P44', 'score': 4.81}, {'connected_gene': 'LOC102724916', 'score': 0.34}, {'connected_gene': 'MRPL1', 'score': 0.2}, {'connected_gene': 'ENSG00000250214', 'score': 0.2}]
chr4 GH04I077815 77815401 77816000 0.51 [{'connected_gene': 'CNOT6L', 'score': 0.77}, {'connected_gene': 'PIR53943', 'score': 0.26}]
chr4 GH04I077810 77810270 77811433 0.31 [{'connected_gene': 'CNOT6L', 'score': 33.08}, {'connected_gene': 'PIR53943', 'score': 0.28}]
chr4 GH04I077801 77801801 77802000 0.4 [{'connected_gene': 'CNOT6L', 'score': 0.37}, {'connected_gene': 'PIR53943', 'score': 0.31}]
chr4 GH04I077787 77787420 77787749 0.27 [{'connected_gene': 'CNOT6L', 'score': 26.95}, {'connected_gene': 'PIR53943', 'score': 0.39}]
chr4 GH04I077539 77538448 77539352 0.79 [{'connected_gene': 'CXCL13', 'score': 12.12}, {'connected_gene': 'CNOT6L', 'score': 4.92}, {'connected_gene': 'GC04P077551', 'score': 0.39}]
chr4 GH04I078644 78644523 78647184 1.54 [{'connected_gene': 'LINC01094', 'score': 556.95}, {'connected_gene': 'BMP2K', 'score': 17.13}, {'connected_gene': 'RPS21P3', 'score': 11.74}, {'connected_gene': 'CNOT6L', 'score': 10.15}, {'connected_gene': 'GC04M078633', 'score': 0.39}, {'connected_gene': 'ENSG00000200998', 'score': 0.39}]
chr4 GH04I078731 78731998 78733736 0.94 [{'connected_gene': 'RPS21P3', 'score': 12.03}, {'connected_gene': 'BMP2K', 'score': 12.02}, {'connected_gene': 'CNOT6L', 'score': 11.51}, {'connected_gene': 'PIR54030', 'score': 0.39}, {'connected_gene': 'GC04P078720', 'score': 0.39}, {'connected_gene': 'GC04P078719', 'score': 0.39}, {'connected_gene': 'PIR40613', 'score': 0.37}, {'connected_gene': 'LOC101928893', 'score': 0.37}]
chr4 GH04I078704 78704194 78706498 1.29 [{'connected_gene': 'GC04P078707', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 67.25}, {'connected_gene': 'BMP2K', 'score': 19.03}, {'connected_gene': 'RPS21P3', 'score': 12.02}, {'connected_gene': 'ENSG00000200998', 'score': 11.29}, {'connected_gene': 'LINC01094', 'score': 6.57}, {'connected_gene': 'HIGD1AP13', 'score': 0.22}]
chr4 GH04I077994 77994567 77994716 0.76 [{'connected_gene': 'GC04M077990', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 19.68}, {'connected_gene': 'HNRNPA1P56', 'score': 0.44}]
chr4 GH04I077669 77669688 77670436 0.2 [{'connected_gene': 'ENSG00000221711', 'score': 10.6}, {'connected_gene': 'CNOT6L', 'score': 4.3}, {'connected_gene': 'LOC105377297', 'score': 0.29}, {'connected_gene': 'GC04M077703', 'score': 0.29}]
chr4 GH04I078008 78008401 78008801 0.2 [{'connected_gene': 'ENSG00000249072', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 10.04}, {'connected_gene': 'ENSG00000248128', 'score': 0.44}]
chr4 GH04I077776 77776567 77777401 0.94 [{'connected_gene': 'PIR53943', 'score': 0.77}, {'connected_gene': 'CNOT6L', 'score': 0.26}]
chr4 GH04I077797 77797482 77799442 0.54 [{'connected_gene': 'PIR53943', 'score': 0.34}, {'connected_gene': 'CNOT6L', 'score': 0.34}]
chr4 GH04I077784 77784007 77784156 0.2 [{'connected_gene': 'PIR53943', 'score': 0.44}, {'connected_gene': 'CNOT6L', 'score': 0.28}]
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}]

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