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
ENST00000251871 [[93517392, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527030], [93527116, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93543042], [93545018, 93547861]] [[93517679, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527030], [93527116, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93543042], [93545018, 93545230]]
ENST00000530819 [[93517447, 93517929], [93521166, 93522962]] [[93517679, 93517929], [93521166, 93521354]]
ENST00000533359 [[93517527, 93517929], [93521166, 93521333], [93523425, 93523509], [93523739, 93523933]] [[93517679, 93517929], [93521166, 93521333], [93523425, 93523509], [93523739, 93523933]]
ENST00000533133 [[93517576, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535142], [93535315, 93535568], [93544989, 93545568]] [[93517679, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527057]]
ENST00000528786 [[93518072, 93518099], [93521166, 93521333], [93523739, 93523959], [93526893, 93527009]] [[93521240, 93521333], [93523739, 93523959], [93526893, 93527009]]
ENST00000525026 [[93521867, 93523959], [93526893, 93527030], [93527116, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530761]] None
ENST00000533367 [[93527136, 93527201], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93543042]] None
ENST00000507258 [[93527415, 93527605], [93528073, 93528226], [93529575, 93529645]] None
ENST00000531920 [[93527913, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93542961]] None
ENST00000525613 [[93533247, 93535138], [93540683, 93540801], [93542882, 93543042], [93545018, 93545394]] None
ENST00000529626 [[93541891, 93543042], [93545018, 93545561]] None
NM_004268 [[93517404, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527030], [93527116, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93543042], [93545018, 93546496]] [[93517679, 93517929], [93521166, 93521333], [93523739, 93523959], [93526893, 93527030], [93527116, 93527201], [93528073, 93528226], [93529575, 93529706], [93530700, 93530885], [93535000, 93535138], [93540683, 93540801], [93542882, 93543042], [93545018, 93545230]]
Promoter
Chrom Start End Description
chr11 93517438 93517465 CAGE_peak_1_at_MED17_5end
chr11 93517480 93517510 CAGE_peak_2_at_MED17_5end
chr11 93517516 93517533 CAGE_peak_3_at_MED17_5end
chr11 93517535 93517544 CAGE_peak_5_at_MED17_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 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 GH11I093523 93523002 93527416 1.52 [{'connected_gene': 'SMCO4', 'score': 27.21}, {'connected_gene': 'SLC36A4', 'score': 5.31}, {'connected_gene': 'GPR83', 'score': 4.32}, {'connected_gene': 'DEUP1', 'score': 1.24}, {'connected_gene': 'MED17', 'score': 1.18}, {'connected_gene': 'SRP14P2', 'score': 0.39}, {'connected_gene': 'GC11M093639', 'score': 0.18}]
chr11 GH11I094492 94492629 94495166 2.01 [{'connected_gene': 'MRE11', 'score': 590.01}, {'connected_gene': 'ANKRD49', 'score': 564.28}, {'connected_gene': 'ENSG00000255893', 'score': 52.98}, {'connected_gene': 'MED17', 'score': 15.32}, {'connected_gene': 'SNORA1', 'score': 11.13}]
chr11 GH11I093818 93818055 93818204 0.2 [{'connected_gene': 'VSTM5', 'score': 12.02}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'TAF1D', 'score': 10.75}, {'connected_gene': 'GC11P093828', 'score': 0.44}, {'connected_gene': 'GC11P093800', 'score': 0.37}]
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 GH11I093814 93814283 93816201 0.31 [{'connected_gene': 'C11orf54', 'score': 13.93}, {'connected_gene': 'VSTM5', 'score': 12.01}, {'connected_gene': 'MED17', 'score': 10.79}, {'connected_gene': 'TAF1D', 'score': 10.79}, {'connected_gene': 'GC11P093800', 'score': 0.39}, {'connected_gene': 'GC11P093828', 'score': 0.39}]
chr11 GH11I093817 93817219 93817988 0.2 [{'connected_gene': 'C11orf54', 'score': 42.91}, {'connected_gene': 'VSTM5', 'score': 12.02}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'TAF1D', 'score': 10.75}, {'connected_gene': 'GC11P093828', 'score': 0.39}, {'connected_gene': 'GC11P093800', 'score': 0.37}]
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 GH11I094127 94127285 94137684 2.78 [{'connected_gene': 'PANX1', 'score': 574.06}, {'connected_gene': 'MED17', 'score': 43.25}, {'connected_gene': 'ANKRD49', 'score': 30.69}, {'connected_gene': 'MRE11', 'score': 26.25}, {'connected_gene': 'SNORA1', 'score': 23.78}, {'connected_gene': 'HEPHL1', 'score': 17.55}, {'connected_gene': 'FUT4', 'score': 2.13}, {'connected_gene': 'PIR47114', 'score': 0.77}, {'connected_gene': 'GC11P094183', 'score': 0.23}]
chr11 GH11I094705 94705247 94708039 1.26 [{'connected_gene': 'AMOTL1', 'score': 556.57}, {'connected_gene': 'MED17', 'score': 16.34}, {'connected_gene': 'SNORA1', 'score': 12.51}, {'connected_gene': 'MRE11', 'score': 11.48}, {'connected_gene': 'ANKRD49', 'score': 10.46}, {'connected_gene': 'KDM4E', 'score': 2.85}, {'connected_gene': 'LOC105369438', 'score': 0.29}]
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 GH11I093234 93234715 93234864 0.72 [{'connected_gene': 'ENSG00000254874', 'score': 10.3}, {'connected_gene': 'MTNR1B', 'score': 10.3}, {'connected_gene': 'TAF1D', 'score': 10.22}, {'connected_gene': 'MED17', 'score': 9.22}, {'connected_gene': 'ENSG00000255233', 'score': 0.44}, {'connected_gene': 'ENSG00000233737', 'score': 0.39}]
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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