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
ENST00000551915 [[83080658, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83380352]] None
ENST00000321196 [[83080658, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83528631]] [[83081365, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83526168]]
ENST00000548305 [[83080779, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359746]] [[83081365, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359568]]
ENST00000546590 [[83081259, 83081448], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83528649]] [[83081365, 83081448], [83289596, 83289621]]
ENST00000549919 [[83152333, 83154138], [83154650, 83154715], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83528081]] [[83154650, 83154715], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83526168]]
NM_001320322 [[83080933, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359750]] [[83081365, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359568]]
NM_001320321 [[83080933, 83081448], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83528647]] [[83289677, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83526168]]
NM_152588 [[83080933, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83528647]] [[83081365, 83081448], [83250788, 83251359], [83289596, 83290425], [83324209, 83324324], [83358802, 83358888], [83359338, 83359523], [83360697, 83360776], [83379703, 83379825], [83424576, 83424658], [83444682, 83444797], [83455546, 83455610], [83525988, 83526168]]
Promoter
Chrom Start End Description
chr12 83080253 83080309 CAGE_peak_6_at_TMTC2_5end
chr12 83080338 83080349 CAGE_peak_14_at_TMTC2_5end
chr12 83080669 83080693 CAGE_peak_2_at_TMTC2_5end
chr12 83080705 83080723 CAGE_peak_4_at_TMTC2_5end
chr12 83080724 83080741 CAGE_peak_3_at_TMTC2_5end
chr12 83080900 83080942 CAGE_peak_1_at_TMTC2_5end
chr12 83081240 83081249 CAGE_peak_10_at_TMTC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I081949 81949542 81950400 0.57 [{'connected_gene': 'PPFIA2', 'score': 5.32}, {'connected_gene': 'TMTC2', 'score': 4.08}, {'connected_gene': 'CCDC59', 'score': 1.87}, {'connected_gene': 'LINC02426', 'score': 0.77}, {'connected_gene': 'VN1R57P', 'score': 0.18}]
chr12 GH12I082861 82861808 82864714 0.87 [{'connected_gene': 'METTL25', 'score': 13.79}, {'connected_gene': 'CCDC59', 'score': 11.98}, {'connected_gene': 'PIR32311', 'score': 0.28}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I083115 83115102 83115211 0.2 [{'connected_gene': 'RPL6P25', 'score': 0.28}, {'connected_gene': 'RNU6-977P', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.04}]
chr12 GH12I083113 83113682 83114754 0.43 [{'connected_gene': 'RPL6P25', 'score': 0.28}, {'connected_gene': 'RNU6-977P', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.04}]
chr12 GH12I082649 82649647 82652257 1.06 [{'connected_gene': 'TMTC2', 'score': 6.59}, {'connected_gene': 'LOC100418732', 'score': 0.19}]
chr12 GH12I082682 82682922 82683071 0.66 [{'connected_gene': 'TMTC2', 'score': 9.33}, {'connected_gene': 'LOC100418732', 'score': 0.14}]
chr12 GH12I082698 82698717 82700395 0.31 [{'connected_gene': 'TMTC2', 'score': 9.21}, {'connected_gene': 'PIR41667', 'score': 0.44}, {'connected_gene': 'PIR32015', 'score': 0.39}]
chr12 GH12I082875 82875897 82876160 0.26 [{'connected_gene': 'TMTC2', 'score': 2.2}, {'connected_gene': 'PIR32311', 'score': 0.31}, {'connected_gene': 'PIR35845', 'score': 0.11}]
chr12 GH12I082783 82783747 82784086 0.43 [{'connected_gene': 'TMTC2', 'score': 1.62}, {'connected_gene': 'PIR35845', 'score': 0.25}, {'connected_gene': 'PIR32311', 'score': 0.13}]
chr12 GH12I082893 82893801 82894200 0.2 [{'connected_gene': 'TMTC2', 'score': 11.89}, {'connected_gene': 'PIR32311', 'score': 0.44}, {'connected_gene': 'PIR35845', 'score': 0.1}]
chr12 GH12I082685 82685342 82688601 2.21 [{'connected_gene': 'TMTC2', 'score': 560.28}, {'connected_gene': 'PIR32015', 'score': 550.77}]
chr12 GH12I083042 83042518 83043292 0.51 [{'connected_gene': 'RNU6-977P', 'score': 11.78}, {'connected_gene': 'RPL6P25', 'score': 0.14}, {'connected_gene': 'TMTC2', 'score': 0.05}]
chr12 GH12I083018 83018177 83018596 0.2 [{'connected_gene': 'RNU6-977P', 'score': 0.77}, {'connected_gene': 'PIR32311', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I082966 82965601 82965800 0.2 [{'connected_gene': 'RNU6-977P', 'score': 0.22}, {'connected_gene': 'PIR32311', 'score': 0.21}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I083004 83004062 83004211 0.31 [{'connected_gene': 'RNU6-977P', 'score': 0.37}, {'connected_gene': 'PIR32311', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I083006 83004702 83004724 0.62 [{'connected_gene': 'RNU6-977P', 'score': 0.37}, {'connected_gene': 'PIR32311', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I083005 83004762 83004851 0.64 [{'connected_gene': 'RNU6-977P', 'score': 0.37}, {'connected_gene': 'PIR32311', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I082981 82981342 82981491 0.43 [{'connected_gene': 'RNU6-977P', 'score': 0.26}, {'connected_gene': 'PIR32311', 'score': 0.18}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I083015 83015222 83017355 0.98 [{'connected_gene': 'RNU6-977P', 'score': 0.44}, {'connected_gene': 'PIR32311', 'score': 0.14}, {'connected_gene': 'TMTC2', 'score': 0.05}]
chr12 GH12I082996 82996282 82996431 0.46 [{'connected_gene': 'RNU6-977P', 'score': 0.31}, {'connected_gene': 'PIR32311', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I082965 82965871 82966805 0.43 [{'connected_gene': 'RNU6-977P', 'score': 0.22}, {'connected_gene': 'PIR32311', 'score': 0.21}, {'connected_gene': 'TMTC2', 'score': 0.06}]
chr12 GH12I082824 82824108 82827825 0.2 [{'connected_gene': 'PIR32311', 'score': 0.18}, {'connected_gene': 'PIR35845', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.12}]
chr12 GH12I082793 82793622 82794426 0.63 [{'connected_gene': 'PIR35845', 'score': 0.22}, {'connected_gene': 'PIR32311', 'score': 0.14}, {'connected_gene': 'TMTC2', 'score': 0.14}]
chr12 GH12I082758 82758477 82762043 0.46 [{'connected_gene': 'PIR35845', 'score': 0.31}, {'connected_gene': 'TMTC2', 'score': 0.19}, {'connected_gene': 'PIR32311', 'score': 0.11}]
chr12 GH12I082781 82781782 82781931 0.51 [{'connected_gene': 'PIR35845', 'score': 0.25}, {'connected_gene': 'TMTC2', 'score': 0.16}, {'connected_gene': 'PIR32311', 'score': 0.13}]
chr12 GH12I082806 82806890 82808308 0.2 [{'connected_gene': 'PIR35845', 'score': 0.19}, {'connected_gene': 'PIR32311', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.13}]
chr12 GH12I082834 82834824 82843170 0.57 [{'connected_gene': 'PIR32311', 'score': 0.21}, {'connected_gene': 'PIR35845', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082869 82869785 82874931 0.66 [{'connected_gene': 'PIR32311', 'score': 0.31}, {'connected_gene': 'PIR35845', 'score': 0.12}, {'connected_gene': 'TMTC2', 'score': 0.09}]
chr12 GH12I082897 82897122 82897211 0.66 [{'connected_gene': 'ENSG00000257431', 'score': 4.37}, {'connected_gene': 'PIR32311', 'score': 0.77}, {'connected_gene': 'PIR35845', 'score': 0.1}, {'connected_gene': 'TMTC2', 'score': 0.08}]
chr12 GH12I082833 82833682 82833791 0.4 [{'connected_gene': 'PIR32311', 'score': 0.2}, {'connected_gene': 'PIR35845', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.11}]
chr12 GH12I082808 82808747 82810579 0.2 [{'connected_gene': 'ENSG00000257431', 'score': 4.05}, {'connected_gene': 'PIR35845', 'score': 0.18}, {'connected_gene': 'PIR32311', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.13}]
chr12 GH12I082707 82707322 82709139 0.83 [{'connected_gene': 'PIR41667', 'score': 550.77}, {'connected_gene': 'TMTC2', 'score': 6.69}, {'connected_gene': 'PIR32015', 'score': 0.34}]
chr12 GH12I082855 82855020 82856375 0.31 [{'connected_gene': 'PIR32311', 'score': 0.25}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082763 82763106 82764103 0.2 [{'connected_gene': 'PIR35845', 'score': 0.31}, {'connected_gene': 'TMTC2', 'score': 0.18}, {'connected_gene': 'PIR32311', 'score': 0.12}]
chr12 GH12I082744 82744644 82747455 0.56 [{'connected_gene': 'PIR35845', 'score': 0.39}, {'connected_gene': 'TMTC2', 'score': 0.22}, {'connected_gene': 'PIR32311', 'score': 0.1}]
chr12 GH12I082756 82756482 82756611 0.58 [{'connected_gene': 'PIR35845', 'score': 0.34}, {'connected_gene': 'TMTC2', 'score': 0.2}, {'connected_gene': 'PIR32311', 'score': 0.11}]
chr12 GH12I082852 82852344 82853752 0.2 [{'connected_gene': 'PIR32311', 'score': 0.25}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082803 82803272 82804364 0.51 [{'connected_gene': 'PIR35845', 'score': 0.2}, {'connected_gene': 'PIR32311', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.13}]
chr12 GH12I082754 82754671 82755579 0.38 [{'connected_gene': 'PIR35845', 'score': 0.34}, {'connected_gene': 'TMTC2', 'score': 0.2}, {'connected_gene': 'PIR32311', 'score': 0.11}]
chr12 GH12I082877 82877676 82881212 0.62 [{'connected_gene': 'PIR32311', 'score': 0.34}, {'connected_gene': 'PIR35845', 'score': 0.11}, {'connected_gene': 'TMTC2', 'score': 0.08}]
chr12 GH12I082866 82866054 82869154 0.54 [{'connected_gene': 'PIR32311', 'score': 0.29}, {'connected_gene': 'PIR35845', 'score': 0.12}, {'connected_gene': 'TMTC2', 'score': 0.09}]
chr12 GH12I082790 82790172 82790244 0.42 [{'connected_gene': 'PIR35845', 'score': 0.22}, {'connected_gene': 'TMTC2', 'score': 0.15}, {'connected_gene': 'PIR32311', 'score': 0.14}]
chr12 GH12I082883 82883542 82883691 0.4 [{'connected_gene': 'PIR32311', 'score': 0.37}, {'connected_gene': 'PIR35845', 'score': 0.11}, {'connected_gene': 'TMTC2', 'score': 0.08}]
chr12 GH12I082767 82767411 82769425 0.31 [{'connected_gene': 'PIR35845', 'score': 0.29}, {'connected_gene': 'TMTC2', 'score': 0.18}, {'connected_gene': 'PIR32311', 'score': 0.12}]
chr12 GH12I082812 82812820 82815312 0.43 [{'connected_gene': 'PIR35845', 'score': 0.18}, {'connected_gene': 'PIR32311', 'score': 0.17}, {'connected_gene': 'TMTC2', 'score': 0.13}]
chr12 GH12I082815 82815388 82819805 0.74 [{'connected_gene': 'PIR35845', 'score': 0.18}, {'connected_gene': 'PIR32311', 'score': 0.18}, {'connected_gene': 'TMTC2', 'score': 0.12}]
chr12 GH12I082845 82845401 82845800 0.2 [{'connected_gene': 'PIR32311', 'score': 0.22}, {'connected_gene': 'PIR35845', 'score': 0.14}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082832 82832001 82832200 0.4 [{'connected_gene': 'PIR32311', 'score': 0.2}, {'connected_gene': 'PIR35845', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.11}]
chr12 GH12I082740 82740107 82741319 0.67 [{'connected_gene': 'PIR35845', 'score': 0.44}, {'connected_gene': 'TMTC2', 'score': 0.23}, {'connected_gene': 'PIR32311', 'score': 0.1}]
chr12 GH12I082848 82848185 82850677 0.2 [{'connected_gene': 'PIR32311', 'score': 0.23}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.1}]
chr12 GH12I082896 82896312 82896947 0.72 [{'connected_gene': 'PIR32311', 'score': 0.44}, {'connected_gene': 'PIR35845', 'score': 0.1}, {'connected_gene': 'TMTC2', 'score': 0.08}]
chr12 GH12I082857 82857382 82858822 0.78 [{'connected_gene': 'PIR32311', 'score': 0.26}, {'connected_gene': 'PIR35845', 'score': 0.13}, {'connected_gene': 'TMTC2', 'score': 0.09}]
chr12 GH12I082799 82799045 82800980 0.43 [{'connected_gene': 'PIR35845', 'score': 0.2}, {'connected_gene': 'PIR32311', 'score': 0.15}, {'connected_gene': 'TMTC2', 'score': 0.14}]
chr12 GH12I082930 82930399 82932827 0.54 [{'connected_gene': 'PIR32311', 'score': 0.31}, {'connected_gene': 'RNU6-977P', 'score': 0.16}, {'connected_gene': 'TMTC2', 'score': 0.07}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.