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
ENST00000378322 [[3547330, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566622]] [[3547961, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566563]]
ENST00000270708 [[3547330, 3547681], [3548029, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566637]] [[3547538, 3547681], [3548029, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566563]]
ENST00000471223 [[3548449, 3553662], [3555313, 3556189]] None
ENST00000424367 [[3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566590]] [[3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566563]]
ENST00000497940 [[3549329, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553621]] None
ENST00000469643 [[3549873, 3550067], [3551560, 3551638], [3551723, 3552014]] None
ENST00000494884 [[3551479, 3551638], [3551723, 3551997]] None
ENST00000465916 [[3551577, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3569276, 3569325]] [[3551577, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3563995]]
ENST00000419924 [[3551835, 3551858], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566627]] [[3551835, 3551858], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566563]]
ENST00000479331 [[3563809, 3564124], [3566494, 3566625]] None
NM_017818 [[3547330, 3547681], [3548029, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566671]] [[3547538, 3547681], [3548029, 3548221], [3548776, 3548902], [3549961, 3550067], [3551560, 3551638], [3551723, 3551858], [3552507, 3552594], [3553558, 3553662], [3555313, 3555386], [3563229, 3563346], [3563971, 3564124], [3566494, 3566563]]
Promoter
Chrom Start End Description
chr1 3566590 3566621 CAGE_peak_2_at_WRAP73_5end
chr1 3566630 3566676 CAGE_peak_1_at_WRAP73_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I003856 3856200 3858381 2.04 [{'connected_gene': 'CEP104', 'score': 588.86}, {'connected_gene': 'DFFB', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.76}, {'connected_gene': 'WRAP73', 'score': 16.0}, {'connected_gene': 'SMIM1', 'score': 15.68}, {'connected_gene': 'ENSG00000272153', 'score': 14.12}]
chr1 GH01I003944 3944930 3945159 0.22 [{'connected_gene': 'TP73', 'score': 12.45}, {'connected_gene': 'CEP104', 'score': 10.69}, {'connected_gene': 'DFFB', 'score': 10.69}, {'connected_gene': 'LINC01345', 'score': 6.11}, {'connected_gene': 'WRAP73', 'score': 1.55}, {'connected_gene': 'LINC01346', 'score': 0.77}]
chr1 GH01I003687 3687985 3691697 1.63 [{'connected_gene': 'TP73', 'score': 606.43}, {'connected_gene': 'TP73-AS1', 'score': 16.26}, {'connected_gene': 'WRAP73', 'score': 2.98}, {'connected_gene': 'CEP104', 'score': 1.47}, {'connected_gene': 'LOC105378609', 'score': 0.39}, {'connected_gene': 'ENSG00000235131', 'score': 0.34}]
chr1 GH01I003651 3651416 3653314 1.4 [{'connected_gene': 'TP73', 'score': 550.77}, {'connected_gene': 'WRAP73', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 13.31}, {'connected_gene': 'GC01M003596', 'score': 0.39}, {'connected_gene': 'TPRG1L', 'score': 0.31}]
chr1 GH01I003671 3671389 3675753 1.23 [{'connected_gene': 'TP73', 'score': 15.77}, {'connected_gene': 'WRAP73', 'score': 2.09}, {'connected_gene': 'C1orf174', 'score': 1.45}, {'connected_gene': 'LOC105378609', 'score': 0.77}, {'connected_gene': 'LOC105378610', 'score': 0.77}]
chr1 GH01I003928 3928061 3928427 0.24 [{'connected_gene': 'TP73', 'score': 56.21}, {'connected_gene': 'WRAP73', 'score': 2.8}, {'connected_gene': 'DFFB', 'score': 1.45}, {'connected_gene': 'CEP104', 'score': 1.4}, {'connected_gene': 'LINC01346', 'score': 0.39}, {'connected_gene': 'PIR46444', 'score': 0.31}]
chr1 GH01I003692 3692712 3692875 0.34 [{'connected_gene': 'TP73', 'score': 19.1}, {'connected_gene': 'WRAP73', 'score': 2.83}, {'connected_gene': 'DFFB', 'score': 1.44}, {'connected_gene': 'CEP104', 'score': 1.3}, {'connected_gene': 'LOC105378609', 'score': 0.37}, {'connected_gene': 'ENSG00000235131', 'score': 0.34}]
chr1 GH01I003718 3718173 3718299 0.79 [{'connected_gene': 'TP73', 'score': 13.59}, {'connected_gene': 'WRAP73', 'score': 2.06}, {'connected_gene': 'ENSG00000235131', 'score': 0.77}, {'connected_gene': 'GC01P003728', 'score': 0.39}]
chr1 GH01I003656 3656820 3656995 0.83 [{'connected_gene': 'TP73', 'score': 16.22}, {'connected_gene': 'WRAP73', 'score': 2.8}, {'connected_gene': 'GC01M003596', 'score': 0.44}]
chr1 GH01I003795 3795086 3797526 2.07 [{'connected_gene': 'LRRC47', 'score': 555.24}, {'connected_gene': 'PIR46973', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.65}, {'connected_gene': 'CEP104', 'score': 18.92}, {'connected_gene': 'SMIM1', 'score': 18.42}, {'connected_gene': 'WRAP73', 'score': 16.03}, {'connected_gene': 'ENSG00000272153', 'score': 14.32}]
chr1 GH01I003359 3359111 3367866 0.84 [{'connected_gene': 'TP73-AS1', 'score': 23.46}, {'connected_gene': 'MORN1', 'score': 14.93}, {'connected_gene': 'C1orf174', 'score': 12.8}, {'connected_gene': 'MMEL1', 'score': 10.74}, {'connected_gene': 'WRAP73', 'score': 10.26}, {'connected_gene': 'GC01M003355', 'score': 0.77}, {'connected_gene': 'GC01M003384', 'score': 0.34}, {'connected_gene': 'GC01P003264', 'score': 0.15}, {'connected_gene': 'PRDM16', 'score': 0.06}]
chr1 GH01I003746 3746001 3747986 1.42 [{'connected_gene': 'TP73-AS1', 'score': 571.08}, {'connected_gene': 'GC01P003748', 'score': 550.77}, {'connected_gene': 'CCDC27', 'score': 550.77}, {'connected_gene': 'DFFB', 'score': 11.79}, {'connected_gene': 'ENSG00000235131', 'score': 11.74}, {'connected_gene': 'TP73', 'score': 11.61}, {'connected_gene': 'LOC105378610', 'score': 10.58}, {'connected_gene': 'WRAP73', 'score': 10.32}]
chr1 GH01I003420 3420436 3425366 1.12 [{'connected_gene': 'TP73-AS1', 'score': 14.76}, {'connected_gene': 'ACTRT2', 'score': 12.06}, {'connected_gene': 'WRAP73', 'score': 11.77}, {'connected_gene': 'DFFB', 'score': 11.7}, {'connected_gene': 'ENSG00000272153', 'score': 11.62}, {'connected_gene': 'GC01M003410', 'score': 0.44}, {'connected_gene': 'ARHGEF16', 'score': 0.29}, {'connected_gene': 'GC01P003264', 'score': 0.1}, {'connected_gene': 'PRDM16', 'score': 0.05}]
chr1 GH01I002984 2984681 2985931 0.91 [{'connected_gene': 'TP73-AS1', 'score': 24.92}, {'connected_gene': 'ENSG00000272153', 'score': 19.9}, {'connected_gene': 'LOC100129534', 'score': 12.38}, {'connected_gene': 'WRAP73', 'score': 11.73}, {'connected_gene': 'MORN1', 'score': 9.99}, {'connected_gene': 'SKI', 'score': 9.99}, {'connected_gene': 'GC01P002988', 'score': 0.77}, {'connected_gene': 'ENSG00000284745', 'score': 0.37}]
chr1 GH01I003649 3649292 3650706 1.98 [{'connected_gene': 'WRAP73', 'score': 560.04}, {'connected_gene': 'TP73', 'score': 0.77}, {'connected_gene': 'GC01M003596', 'score': 0.39}, {'connected_gene': 'TPRG1L', 'score': 0.31}]
chr1 GH01I004426 4426088 4427186 0.56 [{'connected_gene': 'WRAP73', 'score': 20.42}, {'connected_gene': 'ENSG00000272153', 'score': 18.34}, {'connected_gene': 'C1orf174', 'score': 12.91}, {'connected_gene': 'LOC105376674', 'score': 0.44}, {'connected_gene': 'LINC01777', 'score': 0.39}]
chr1 GH01I004427 4427231 4430156 0.56 [{'connected_gene': 'WRAP73', 'score': 20.42}, {'connected_gene': 'ENSG00000272153', 'score': 18.34}, {'connected_gene': 'C1orf174', 'score': 12.91}, {'connected_gene': 'LOC105376674', 'score': 0.77}, {'connected_gene': 'LINC01777', 'score': 0.37}]
chr1 GH01I004269 4269960 4274114 0.68 [{'connected_gene': 'WRAP73', 'score': 10.02}, {'connected_gene': 'GC01P004267', 'score': 0.77}, {'connected_gene': 'GC01P004385', 'score': 0.14}]
chr1 GH01I003771 3771634 3776875 2.27 [{'connected_gene': 'SMIM1', 'score': 581.69}, {'connected_gene': 'CEP104', 'score': 28.38}, {'connected_gene': 'C1orf174', 'score': 16.45}, {'connected_gene': 'WRAP73', 'score': 13.59}, {'connected_gene': 'ENSG00000272153', 'score': 11.94}, {'connected_gene': 'TP73-AS1', 'score': 10.26}, {'connected_gene': 'LRRC47', 'score': 6.28}, {'connected_gene': 'GC01P003777', 'score': 0.77}, {'connected_gene': 'CCDC27', 'score': 0.31}]
chr1 GH01I003415 3415919 3420135 0.85 [{'connected_gene': 'C1orf174', 'score': 14.11}, {'connected_gene': 'WRAP73', 'score': 12.52}, {'connected_gene': 'TNFRSF14', 'score': 10.68}, {'connected_gene': 'ENSG00000272153', 'score': 10.12}, {'connected_gene': 'ENSG00000225931', 'score': 9.96}, {'connected_gene': 'ARHGEF16', 'score': 6.24}, {'connected_gene': 'GC01M003410', 'score': 0.77}, {'connected_gene': 'GC01P003264', 'score': 0.1}, {'connected_gene': 'PRDM16', 'score': 0.05}]
chr1 GH01I003087 3087782 3088392 0.54 [{'connected_gene': 'C1orf174', 'score': 18.19}, {'connected_gene': 'WRAP73', 'score': 17.26}, {'connected_gene': 'RER1', 'score': 14.15}, {'connected_gene': 'ENSG00000272153', 'score': 13.22}, {'connected_gene': 'FAAP20', 'score': 10.71}, {'connected_gene': 'ENSG00000225931', 'score': 10.45}, {'connected_gene': 'TNFRSF14', 'score': 10.29}, {'connected_gene': 'PIR58969', 'score': 0.44}, {'connected_gene': 'PRDM16', 'score': 0.37}, {'connected_gene': 'MIR4251', 'score': 0.28}]
chr1 GH01I003317 3316322 3317389 1.34 [{'connected_gene': 'C1orf174', 'score': 13.0}, {'connected_gene': 'WRAP73', 'score': 12.48}, {'connected_gene': 'ENSG00000272153', 'score': 11.1}, {'connected_gene': 'LOC105378604', 'score': 0.44}, {'connected_gene': 'GC01P003290', 'score': 0.31}, {'connected_gene': 'GC01P003264', 'score': 0.23}, {'connected_gene': 'PRDM16', 'score': 0.07}]
chr1 GH01I004232 4232681 4235427 0.43 [{'connected_gene': 'C1orf174', 'score': 13.03}, {'connected_gene': 'WRAP73', 'score': 12.45}, {'connected_gene': 'ENSG00000272153', 'score': 11.1}, {'connected_gene': 'PIR40879', 'score': 0.77}, {'connected_gene': 'GC01P004227', 'score': 0.44}]
chr1 GH01I003899 3899117 3901831 2.63 [{'connected_gene': 'C1orf174', 'score': 645.33}, {'connected_gene': 'PIR46444', 'score': 550.77}, {'connected_gene': 'LINC01134', 'score': 550.77}, {'connected_gene': 'PIR33659', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 105.52}, {'connected_gene': 'WRAP73', 'score': 76.91}, {'connected_gene': 'ENSG00000272153', 'score': 68.86}, {'connected_gene': 'DFFB', 'score': 46.61}, {'connected_gene': 'CEP104', 'score': 19.27}, {'connected_gene': 'MEGF6', 'score': 9.91}, {'connected_gene': 'LRRC47', 'score': 2.02}]
chr1 GH01I003479 3479203 3483607 0.97 [{'connected_gene': 'ARHGEF16', 'score': 17.21}, {'connected_gene': 'MEGF6', 'score': 11.83}, {'connected_gene': 'ENSG00000238260', 'score': 11.56}, {'connected_gene': 'TPRG1L', 'score': 11.56}, {'connected_gene': 'TP73', 'score': 11.14}, {'connected_gene': 'WRAP73', 'score': 11.14}, {'connected_gene': 'ENSG00000272088', 'score': 0.44}, {'connected_gene': 'GC01M003454', 'score': 0.31}]
chr1 GH01I003483 3483800 3484066 1.11 [{'connected_gene': 'MEGF6', 'score': 11.83}, {'connected_gene': 'ENSG00000238260', 'score': 11.56}, {'connected_gene': 'TPRG1L', 'score': 11.56}, {'connected_gene': 'TP73', 'score': 11.15}, {'connected_gene': 'WRAP73', 'score': 11.15}, {'connected_gene': 'ENSG00000272088', 'score': 0.77}, {'connected_gene': 'GC01M003454', 'score': 0.31}]
chr1 GH01I003618 3618629 3619785 1.02 [{'connected_gene': 'TPRG1L', 'score': 15.47}, {'connected_gene': 'WRAP73', 'score': 5.81}, {'connected_gene': 'LRRC47', 'score': 5.44}, {'connected_gene': 'TTC34', 'score': 4.57}, {'connected_gene': 'ENSG00000238260', 'score': 0.44}, {'connected_gene': 'MEGF6', 'score': 0.44}, {'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'GC01M003596', 'score': 0.26}]
chr1 GH01I003623 3623409 3626484 2.04 [{'connected_gene': 'TPRG1L', 'score': 559.02}, {'connected_gene': 'ENSG00000238260', 'score': 550.77}, {'connected_gene': 'MEGF6', 'score': 550.77}, {'connected_gene': 'WRAP73', 'score': 30.43}, {'connected_gene': 'ENSG00000272153', 'score': 18.07}, {'connected_gene': 'C1orf174', 'score': 11.93}, {'connected_gene': 'GC01M003596', 'score': 0.28}]
chr1 GH01I003676 3676415 3679600 1.35 [{'connected_gene': 'LOC105378609', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 44.42}, {'connected_gene': 'DFFB', 'score': 19.94}, {'connected_gene': 'WRAP73', 'score': 19.22}, {'connected_gene': 'C1orf174', 'score': 12.85}, {'connected_gene': 'TP73', 'score': 12.05}, {'connected_gene': 'ENSG00000272153', 'score': 11.14}, {'connected_gene': 'CEP104', 'score': 10.06}, {'connected_gene': 'MEGF6', 'score': 1.95}, {'connected_gene': 'ENSG00000235131', 'score': 0.28}]
chr1 GH01I003318 3318622 3324679 1.88 [{'connected_gene': 'LOC105378604', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 39.02}, {'connected_gene': 'WRAP73', 'score': 36.07}, {'connected_gene': 'TP73-AS1', 'score': 24.33}, {'connected_gene': 'ENSG00000272153', 'score': 22.54}, {'connected_gene': 'RER1', 'score': 14.15}, {'connected_gene': 'CEP104', 'score': 10.76}, {'connected_gene': 'ENSG00000225931', 'score': 10.45}, {'connected_gene': 'TNFRSF14', 'score': 10.28}, {'connected_gene': 'MORN1', 'score': 10.01}, {'connected_gene': 'GC01P003290', 'score': 0.29}, {'connected_gene': 'GC01P003264', 'score': 0.22}, {'connected_gene': 'PRDM16', 'score': 0.07}]
chr1 GH01I002986 2986518 2989370 0.76 [{'connected_gene': 'GC01P002988', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 41.64}, {'connected_gene': 'ENSG00000234396', 'score': 41.05}, {'connected_gene': 'ENSG00000272153', 'score': 28.02}, {'connected_gene': 'LOC100129534', 'score': 21.53}, {'connected_gene': 'MORN1', 'score': 21.36}, {'connected_gene': 'WRAP73', 'score': 20.85}, {'connected_gene': 'DFFB', 'score': 20.4}, {'connected_gene': 'C1orf174', 'score': 18.69}, {'connected_gene': 'ACTRT2', 'score': 13.11}, {'connected_gene': 'FAAP20', 'score': 11.58}, {'connected_gene': 'ENSG00000272420', 'score': 10.43}, {'connected_gene': 'ENSG00000284745', 'score': 0.37}]
chr1 GH01I004006 4006716 4008311 0.88 [{'connected_gene': 'PIR57428', 'score': 550.77}, {'connected_gene': 'WRAP73', 'score': 21.21}, {'connected_gene': 'C1orf174', 'score': 19.08}, {'connected_gene': 'AJAP1', 'score': 5.75}, {'connected_gene': 'LOC105376673', 'score': 0.29}]
chr1 GH01I003664 3664176 3668153 1.1 [{'connected_gene': 'ENSG00000235131', 'score': 11.71}, {'connected_gene': 'WRAP73', 'score': 10.19}, {'connected_gene': 'MEGF6', 'score': 10.01}, {'connected_gene': 'TP73', 'score': 7.47}, {'connected_gene': 'GC01M003596', 'score': 0.77}, {'connected_gene': 'LOC105378610', 'score': 0.77}]
chr1 GH01I003663 3663696 3664046 0.49 [{'connected_gene': 'GC01M003596', 'score': 550.77}, {'connected_gene': 'WRAP73', 'score': 12.87}, {'connected_gene': 'ENSG00000235131', 'score': 11.7}, {'connected_gene': 'MEGF6', 'score': 10.03}, {'connected_gene': 'TPRG1L', 'score': 4.71}, {'connected_gene': 'LOC105378610', 'score': 0.77}, {'connected_gene': 'TP73', 'score': 0.39}]
chr1 GH01I003778 3778202 3778316 0.43 [{'connected_gene': 'GC01P003777', 'score': 550.77}, {'connected_gene': 'SMIM1', 'score': 25.74}, {'connected_gene': 'C1orf174', 'score': 11.12}, {'connected_gene': 'WRAP73', 'score': 10.34}, {'connected_gene': 'MEGF6', 'score': 10.27}, {'connected_gene': 'CEP104', 'score': 8.82}, {'connected_gene': 'RN7SL574P', 'score': 0.77}]

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