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
ENST00000325212 [[93394804, 93394940], [93399847, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463522]] [[93399873, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463435]]
ENST00000344196 [[93394815, 93394940], [93399847, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463522]] [[93435667, 93435803], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463435]]
ENST00000411936 [[93394815, 93394940], [93399847, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462776, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463522]] [[93399873, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462776, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463435]]
ENST00000531700 [[93428695, 93428839], [93429485, 93429583], [93429847, 93430020], [93435625, 93435803], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463522]] [[93435667, 93435803], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463435]]
ENST00000530425 [[93432073, 93433352], [93435625, 93435803], [93439910, 93440063], [93454477, 93454578], [93456206, 93456230]] [[93435667, 93435803], [93439910, 93440063], [93454477, 93454578], [93456206, 93456230]]
ENST00000531622 [[93424846, 93424941], [93428662, 93428786]] None
ENST00000531877 [[93424870, 93424941], [93425092, 93425196], [93428662, 93428839], [93429485, 93429583], [93429847, 93430141]] [[93424870, 93424941], [93425092, 93425196], [93428662, 93428839], [93429485, 93429583], [93429847, 93430141]]
ENST00000531404 [[93455667, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462776, 93462947], [93463035, 93463135], [93463214, 93463246]] [[93456223, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462776, 93462947], [93463035, 93463135], [93463214, 93463246]]
ENST00000529185 [[93456564, 93457541], [93458816, 93458997], [93460141, 93460281]] [[93458900, 93458997], [93460141, 93460281]]
NM_033395 [[93394815, 93394940], [93399847, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463522]] [[93399873, 93399981], [93400772, 93400973], [93401973, 93402098], [93402842, 93402936], [93408736, 93408832], [93412577, 93412718], [93416724, 93416908], [93417129, 93417294], [93420809, 93421031], [93424848, 93424941], [93425092, 93425196], [93428662, 93428800], [93429485, 93429583], [93429847, 93433352], [93435625, 93435803], [93435941, 93436085], [93439910, 93440063], [93454477, 93454578], [93455119, 93455216], [93456206, 93456455], [93457419, 93457541], [93458816, 93458997], [93460141, 93460803], [93461846, 93461987], [93462599, 93462696], [93462779, 93462947], [93463035, 93463135], [93463214, 93463314], [93463396, 93463435]]
Promoter
Chrom Start End Description
chr11 93394807 93394904 CAGE_peak_1_at_KIAA1731_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I093783 93783449 93786011 2.05 [{'connected_gene': 'MED17', 'score': 593.16}, {'connected_gene': 'TAF1D', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 59.46}, {'connected_gene': 'SNORA1', 'score': 41.9}, {'connected_gene': 'MRE11', 'score': 35.33}, {'connected_gene': 'ANKRD49', 'score': 32.09}, {'connected_gene': 'SNORA40', 'score': 11.34}, {'connected_gene': 'SNORD6', 'score': 11.33}, {'connected_gene': 'SNORD5', 'score': 11.33}, {'connected_gene': 'SNORA18', 'score': 11.33}, {'connected_gene': 'SNORA25', 'score': 11.33}, {'connected_gene': 'SNORA8', 'score': 11.33}, {'connected_gene': 'SNORA32', 'score': 11.33}, {'connected_gene': 'CEP295', 'score': 5.7}, {'connected_gene': 'GC11P093800', 'score': 0.37}, {'connected_gene': 'ENSG00000284057', 'score': 0.26}]
chr11 GH11I094238 94237935 94238064 0.71 [{'connected_gene': 'MED17', 'score': 26.27}, {'connected_gene': 'MRE11', 'score': 19.22}, {'connected_gene': 'ANKRD49', 'score': 14.54}, {'connected_gene': 'SNORA1', 'score': 12.18}, {'connected_gene': 'BUD13P1', 'score': 10.96}, {'connected_gene': 'CEP295', 'score': 10.76}, {'connected_gene': 'FUT4', 'score': 10.13}, {'connected_gene': 'LOC105369435', 'score': 0.28}, {'connected_gene': 'GC11P094202', 'score': 0.28}, {'connected_gene': 'GC11P094183', 'score': 0.23}, {'connected_gene': 'IZUMO1R', 'score': 0.2}]
chr11 GH11I093660 93660982 93663507 2.05 [{'connected_gene': 'CEP295', 'score': 581.7}, {'connected_gene': 'GC11P093662', 'score': 550.77}, {'connected_gene': 'MED17', 'score': 29.64}, {'connected_gene': 'ANKRD49', 'score': 23.97}, {'connected_gene': 'MRE11', 'score': 23.41}, {'connected_gene': 'SNORA1', 'score': 11.31}]
chr11 GH11I094237 94237795 94237864 0.82 [{'connected_gene': 'CEP295', 'score': 103.26}, {'connected_gene': 'MED17', 'score': 90.83}, {'connected_gene': 'MRE11', 'score': 68.78}, {'connected_gene': 'ANKRD49', 'score': 48.15}, {'connected_gene': 'SNORA1', 'score': 43.8}, {'connected_gene': 'BUD13P1', 'score': 42.83}, {'connected_gene': 'ENSG00000270578', 'score': 30.79}, {'connected_gene': 'KDM4D', 'score': 10.93}, {'connected_gene': 'ENSG00000255893', 'score': 10.41}, {'connected_gene': 'FUT4', 'score': 10.13}, {'connected_gene': 'SNORA18', 'score': 9.68}, {'connected_gene': 'LOC105369435', 'score': 0.28}, {'connected_gene': 'GC11P094202', 'score': 0.28}, {'connected_gene': 'GC11P094183', 'score': 0.23}, {'connected_gene': 'IZUMO1R', 'score': 0.2}]
chr11 GH11I093986 93986275 93987601 0.9 [{'connected_gene': 'CEP295', 'score': 22.58}, {'connected_gene': 'ENSG00000255445', 'score': 22.32}, {'connected_gene': 'HEPHL1', 'score': 11.06}, {'connected_gene': 'ENSG00000255995', 'score': 0.77}, {'connected_gene': 'GC11M093931', 'score': 0.37}]
chr11 GH11I093576 93576555 93578120 0.4 [{'connected_gene': 'CEP295', 'score': 6.49}, {'connected_gene': 'C11orf54', 'score': 5.34}, {'connected_gene': 'SMCO4', 'score': 0.44}, {'connected_gene': 'GC11M093574', 'score': 0.39}, {'connected_gene': 'PIR62997', 'score': 0.39}]
chr11 GH11I092999 92999506 93001973 1.03 [{'connected_gene': 'CEP295', 'score': 10.82}, {'connected_gene': 'PIR63007', 'score': 0.39}, {'connected_gene': 'PIR49183', 'score': 0.37}]
chr11 GH11I093611 93611371 93613120 0.38 [{'connected_gene': 'LOC642897', 'score': 550.77}, {'connected_gene': 'GC11M093614', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 9.23}, {'connected_gene': 'SMCO4', 'score': 6.71}, {'connected_gene': 'TAF1D', 'score': 6.6}, {'connected_gene': 'CEP295', 'score': 5.19}, {'connected_gene': 'GC11P093624', 'score': 0.39}]
chr11 GH11I093541 93541034 93544087 2.23 [{'connected_gene': 'SMCO4', 'score': 556.13}, {'connected_gene': 'MED17', 'score': 15.36}, {'connected_gene': 'ANKRD49', 'score': 13.53}, {'connected_gene': 'MRE11', 'score': 11.58}, {'connected_gene': 'SNORA1', 'score': 11.19}, {'connected_gene': 'CEP295', 'score': 5.57}, {'connected_gene': 'C11orf54', 'score': 4.3}, {'connected_gene': 'TAF1D', 'score': 4.16}, {'connected_gene': 'GC11P093545', 'score': 0.77}, {'connected_gene': 'PIR55384', 'score': 0.44}]
chr11 GH11I093527 93527875 93533557 1.45 [{'connected_gene': 'SMCO4', 'score': 19.2}, {'connected_gene': 'CEP295', 'score': 10.85}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'C11orf54', 'score': 4.53}, {'connected_gene': 'SLC36A4', 'score': 1.19}, {'connected_gene': 'SRP14P2', 'score': 0.77}, {'connected_gene': 'GC11M093639', 'score': 0.18}]
chr11 GH11I093743 93743317 93746545 1.01 [{'connected_gene': 'C11orf54', 'score': 64.88}, {'connected_gene': 'CEP295', 'score': 5.8}, {'connected_gene': 'GC11P093749', 'score': 0.77}, {'connected_gene': 'PIR37895', 'score': 0.77}, {'connected_gene': 'ENSG00000284057', 'score': 0.77}, {'connected_gene': 'TAF1D', 'score': 0.28}]
chr11 GH11I093733 93733364 93743306 2.26 [{'connected_gene': 'C11orf54', 'score': 578.7}, {'connected_gene': 'TAF1D', 'score': 561.5}, {'connected_gene': 'MED17', 'score': 98.05}, {'connected_gene': 'ANKRD49', 'score': 61.44}, {'connected_gene': 'CEP295', 'score': 46.02}, {'connected_gene': 'MRE11', 'score': 43.64}, {'connected_gene': 'SNORA1', 'score': 34.88}, {'connected_gene': 'ENSG00000255445', 'score': 10.68}, {'connected_gene': 'SMCO4', 'score': 5.94}, {'connected_gene': 'GC11M093815', 'score': 0.77}, {'connected_gene': 'GC11P093740', 'score': 0.77}, {'connected_gene': 'MIR1304', 'score': 0.77}, {'connected_gene': 'SNORA40', 'score': 0.77}, {'connected_gene': 'SNORA18', 'score': 0.77}, {'connected_gene': 'GC11M093828', 'score': 0.77}, {'connected_gene': 'PIR37895', 'score': 0.77}, {'connected_gene': 'ENSG00000284057', 'score': 0.77}, {'connected_gene': 'GC11M093819', 'score': 0.77}, {'connected_gene': 'GC11M093824', 'score': 0.77}]
chr11 GH11I094542 94542835 94549648 2.23 [{'connected_gene': 'FUT4', 'score': 556.37}, {'connected_gene': 'GC11M094542', 'score': 550.77}, {'connected_gene': 'PIR62201', 'score': 550.77}, {'connected_gene': 'GC11P094548', 'score': 550.77}, {'connected_gene': 'MED17', 'score': 27.13}, {'connected_gene': 'CEP295', 'score': 22.53}, {'connected_gene': 'MRE11', 'score': 16.14}, {'connected_gene': 'ANKRD49', 'score': 14.15}, {'connected_gene': 'SNORA1', 'score': 10.86}, {'connected_gene': 'ENSG00000255666', 'score': 6.39}, {'connected_gene': 'LOC105369435', 'score': 5.88}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'LOC105369438', 'score': 0.08}]
chr11 GH11I093196 93196538 93198801 2.04 [{'connected_gene': 'SLC36A4', 'score': 564.07}, {'connected_gene': 'CEP295', 'score': 33.88}, {'connected_gene': 'MED17', 'score': 32.26}, {'connected_gene': 'ENSG00000255445', 'score': 21.68}, {'connected_gene': 'SNORA1', 'score': 20.26}, {'connected_gene': 'ENSG00000280379', 'score': 0.31}]
chr11 GH11I093054 93054119 93056279 1.04 [{'connected_gene': 'GC11P093053', 'score': 550.77}, {'connected_gene': 'CEP295', 'score': 32.29}, {'connected_gene': 'MED17', 'score': 29.79}, {'connected_gene': 'SNORA1', 'score': 14.1}, {'connected_gene': 'ENSG00000255445', 'score': 10.8}, {'connected_gene': 'GC11P093062', 'score': 0.44}]
chr11 GH11I093717 93717236 93719682 1.19 [{'connected_gene': 'ENSG00000199875', 'score': 550.77}, {'connected_gene': 'GC11P093720', 'score': 550.77}, {'connected_gene': 'CEP295', 'score': 21.8}, {'connected_gene': 'MED17', 'score': 17.93}, {'connected_gene': 'ANKRD49', 'score': 14.27}, {'connected_gene': 'SNORA1', 'score': 13.51}, {'connected_gene': 'MRE11', 'score': 12.83}, {'connected_gene': 'TAF1D', 'score': 10.92}, {'connected_gene': 'SNORA18', 'score': 10.33}, {'connected_gene': 'GC11P093711', 'score': 0.44}]
chr11 GH11I093567 93567655 93567804 0.63 [{'connected_gene': 'GC11M093574', 'score': 550.77}, {'connected_gene': 'PIR62997', 'score': 550.77}, {'connected_gene': 'CEP295', 'score': 4.78}, {'connected_gene': 'MTNR1B', 'score': 4.59}, {'connected_gene': 'SMCO4', 'score': 0.37}]
chr11 GH11I093728 93728395 93728544 0.52 [{'connected_gene': 'ENSG00000279696', 'score': 550.77}, {'connected_gene': 'ENSG00000273885', 'score': 0.44}, {'connected_gene': 'CEP295', 'score': 0.2}]
chr11 GH11I093713 93713010 93713189 0.24 [{'connected_gene': 'GC11P093711', 'score': 550.77}, {'connected_gene': 'GC11P093720', 'score': 0.44}, {'connected_gene': 'CEP295', 'score': 0.23}]
chr11 GH11I093746 93746648 93748027 0.56 [{'connected_gene': 'GC11P093749', 'score': 550.77}, {'connected_gene': 'GC11P093748', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 64.02}, {'connected_gene': 'CEP295', 'score': 5.85}, {'connected_gene': 'PIR37895', 'score': 0.44}, {'connected_gene': 'ENSG00000284057', 'score': 0.44}, {'connected_gene': 'TAF1D', 'score': 0.28}]
chr11 GH11I093654 93654866 93655828 0.66 [{'connected_gene': 'GC11P093655', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 11.09}, {'connected_gene': 'TAF1D', 'score': 11.05}, {'connected_gene': 'MED17', 'score': 9.3}, {'connected_gene': 'CEP295', 'score': 6.2}, {'connected_gene': 'GC11P093624', 'score': 0.29}]

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