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
ENST00000294599 [[3406483, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410361], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413796, 3413925], [3414934, 3415063], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3447643, 3448012]] [[3407091, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410361], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413796, 3413925], [3414934, 3415063], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3447643, 3447809]]
ENST00000356575 [[3406489, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3496388, 3496493], [3511901, 3512011], [3519029, 3519164], [3527701, 3528059]] [[3407091, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3496388, 3496493], [3511901, 3512011], [3519029, 3519164], [3527701, 3527832]]
ENST00000494257 [[3406875, 3407153], [3407475, 3407523], [3409202, 3410050]] None
ENST00000485002 [[3407125, 3407153], [3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414054, 3414185], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3463561, 3463687], [3511901, 3512011], [3519029, 3519164], [3527701, 3527841]] [[3412504, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414054, 3414185], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3463561, 3463687], [3511901, 3512011], [3519029, 3519164], [3527701, 3527832]]
ENST00000491842 [[3407488, 3407523], [3409202, 3409331], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413281]] [[3407488, 3407523], [3409202, 3409331], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413281]]
ENST00000475790 [[3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411305], [3412453, 3412578]] None
ENST00000461795 [[3409291, 3409331], [3410334, 3410463], [3410559, 3410808]] None
NM_001409 [[3404505, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3496388, 3496493], [3511901, 3512011], [3519029, 3519164], [3527701, 3528059]] [[3407091, 3407153], [3407475, 3407523], [3409202, 3409331], [3410334, 3410463], [3410559, 3410688], [3410934, 3411063], [3411176, 3411305], [3412453, 3412582], [3413218, 3413347], [3413551, 3413683], [3413796, 3413925], [3414934, 3415063], [3415261, 3415390], [3415701, 3415830], [3416151, 3416280], [3416359, 3416488], [3417196, 3417328], [3417529, 3417658], [3417740, 3417872], [3418359, 3418485], [3421771, 3421906], [3421985, 3422120], [3422671, 3422800], [3424358, 3424487], [3425121, 3425253], [3425638, 3425809], [3426433, 3426556], [3427346, 3427466], [3428113, 3428251], [3428569, 3428692], [3431113, 3431236], [3431965, 3432091], [3440687, 3440810], [3496388, 3496493], [3511901, 3512011], [3519029, 3519164], [3527701, 3527832]]
Promoter
Chrom Start End Description
chr1 3412591 3412602 CAGE_peak_8_at_MEGF6_5end
chr1 3447901 3447910 CAGE_peak_4_at_MEGF6_5end
chr1 3447923 3447933 CAGE_peak_3_at_MEGF6_5end
chr1 3447967 3447983 CAGE_peak_1_at_MEGF6_5end
chr1 3528034 3528077 CAGE_peak_2_at_MEGF6_5end
chr1 3528097 3528107 CAGE_peak_6_at_MEGF6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I003510 3510417 3510566 0.57 [{'connected_gene': 'TP73-AS1', 'score': 10.28}, {'connected_gene': 'ARHGEF16', 'score': 5.89}, {'connected_gene': 'GC01M003505', 'score': 0.77}, {'connected_gene': 'LOC105378608', 'score': 0.28}, {'connected_gene': 'MEGF6', 'score': 0.14}]
chr1 GH01I003538 3538201 3538800 0.89 [{'connected_gene': 'C1orf174', 'score': 13.25}, {'connected_gene': 'MIR551A', 'score': 12.64}, {'connected_gene': 'ENSG00000238260', 'score': 11.63}, {'connected_gene': 'TPRG1L', 'score': 11.63}, {'connected_gene': 'MEGF6', 'score': 11.37}, {'connected_gene': 'LOC105378610', 'score': 10.96}, {'connected_gene': 'TP73-AS1', 'score': 5.43}, {'connected_gene': 'LOC105378608', 'score': 0.44}, {'connected_gene': 'GC01M003505', 'score': 0.29}]
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 GH01I003477 3477249 3477962 0.56 [{'connected_gene': 'ARHGEF16', 'score': 16.99}, {'connected_gene': 'MEGF6', 'score': 11.16}, {'connected_gene': 'ENSG00000272088', 'score': 0.44}, {'connected_gene': 'GC01M003454', 'score': 0.34}]
chr1 GH01I003467 3467136 3468249 0.43 [{'connected_gene': 'ARHGEF16', 'score': 16.54}, {'connected_gene': 'MEGF6', 'score': 11.52}, {'connected_gene': 'GC01M003454', 'score': 0.39}, {'connected_gene': 'ENSG00000272088', 'score': 0.37}, {'connected_gene': 'GC01P003264', 'score': 0.08}]
chr1 GH01I003494 3494757 3494906 0.46 [{'connected_gene': 'ARHGEF16', 'score': 6.32}, {'connected_gene': 'ENSG00000272088', 'score': 0.44}, {'connected_gene': 'GC01M003505', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.13}]
chr1 GH01I003490 3490795 3492270 1.17 [{'connected_gene': 'ARHGEF16', 'score': 7.37}, {'connected_gene': 'ENSG00000272088', 'score': 0.77}, {'connected_gene': 'GC01M003505', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.12}]
chr1 GH01I003539 3538844 3541201 0.94 [{'connected_gene': 'MEGF6', 'score': 17.4}, {'connected_gene': 'C1orf174', 'score': 13.25}, {'connected_gene': 'MIR551A', 'score': 12.64}, {'connected_gene': 'ENSG00000238260', 'score': 11.64}, {'connected_gene': 'TPRG1L', 'score': 11.64}, {'connected_gene': 'LOC105378610', 'score': 10.97}, {'connected_gene': 'LOC105378608', 'score': 0.44}, {'connected_gene': 'GC01M003505', 'score': 0.29}]
chr1 GH01I003470 3470609 3472531 1.31 [{'connected_gene': 'MEGF6', 'score': 11.52}, {'connected_gene': 'ARHGEF16', 'score': 8.17}, {'connected_gene': 'ENSG00000272088', 'score': 0.37}, {'connected_gene': 'GC01M003454', 'score': 0.37}, {'connected_gene': 'GC01P003264', 'score': 0.08}]
chr1 GH01I003469 3469418 3470456 0.56 [{'connected_gene': 'MEGF6', 'score': 11.52}, {'connected_gene': 'ARHGEF16', 'score': 8.3}, {'connected_gene': 'GC01M003454', 'score': 0.39}, {'connected_gene': 'ENSG00000272088', 'score': 0.37}, {'connected_gene': 'GC01P003264', 'score': 0.08}]
chr1 GH01I003475 3475757 3476390 0.46 [{'connected_gene': 'MEGF6', 'score': 11.16}, {'connected_gene': 'ARHGEF16', 'score': 10.06}, {'connected_gene': 'ENSG00000272088', 'score': 0.39}, {'connected_gene': 'GC01M003454', 'score': 0.34}]
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 GH01I003595 3595722 3599911 1.1 [{'connected_gene': 'MEGF6', 'score': 6.79}, {'connected_gene': 'TPRG1L', 'score': 6.61}, {'connected_gene': 'TP73', 'score': 3.47}, {'connected_gene': 'LOC105378607', 'score': 0.44}, {'connected_gene': 'MIR551A', 'score': 0.28}, {'connected_gene': 'GC01M003596', 'score': 0.21}]
chr1 GH01I003565 3565337 3565486 0.67 [{'connected_gene': 'MEGF6', 'score': 17.93}, {'connected_gene': 'ENSG00000238260', 'score': 11.99}, {'connected_gene': 'TPRG1L', 'score': 11.99}, {'connected_gene': 'MIR551A', 'score': 0.77}, {'connected_gene': 'LOC105378607', 'score': 0.28}]
chr1 GH01I003611 3611200 3611806 1.69 [{'connected_gene': 'MEGF6', 'score': 550.39}, {'connected_gene': 'TPRG1L', 'score': 4.85}, {'connected_gene': 'LOC105378607', 'score': 0.44}, {'connected_gene': 'ENSG00000238260', 'score': 0.39}, {'connected_gene': 'GC01M003596', 'score': 0.23}]
chr1 GH01I003522 3522357 3523801 0.38 [{'connected_gene': 'MEGF6', 'score': 18.29}, {'connected_gene': 'GC01M003505', 'score': 0.37}, {'connected_gene': 'LOC105378608', 'score': 0.34}]
chr1 GH01I003529 3529133 3532046 1.5 [{'connected_gene': 'MEGF6', 'score': 6.47}, {'connected_gene': 'LOC105378608', 'score': 0.37}, {'connected_gene': 'GC01M003505', 'score': 0.34}]
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 GH01I003541 3541570 3549725 1.4 [{'connected_gene': 'LOC105378608', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 13.23}, {'connected_gene': 'MEGF6', 'score': 12.07}, {'connected_gene': 'ENSG00000238260', 'score': 11.81}, {'connected_gene': 'TPRG1L', 'score': 11.81}, {'connected_gene': 'ENSG00000225931', 'score': 5.0}, {'connected_gene': 'ARHGEF16', 'score': 4.19}, {'connected_gene': 'GC01M003505', 'score': 0.28}]
chr1 GH01I003583 3583982 3586917 0.57 [{'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'MIR551A', 'score': 0.34}, {'connected_gene': 'MEGF6', 'score': 0.28}]
chr1 GH01I003587 3587437 3587586 0.69 [{'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'MIR551A', 'score': 0.31}, {'connected_gene': 'MEGF6', 'score': 0.28}]
chr1 GH01I003609 3609911 3610897 0.57 [{'connected_gene': 'LOC105378607', 'score': 0.44}, {'connected_gene': 'ENSG00000238260', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.39}, {'connected_gene': 'GC01M003596', 'score': 0.23}]
chr1 GH01I003613 3613497 3613666 0.88 [{'connected_gene': 'LOC105378607', 'score': 0.39}, {'connected_gene': 'ENSG00000238260', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.39}, {'connected_gene': 'GC01M003596', 'score': 0.25}]
chr1 GH01I003610 3610937 3611016 0.43 [{'connected_gene': 'LOC105378607', 'score': 0.44}, {'connected_gene': 'ENSG00000238260', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.39}, {'connected_gene': 'GC01M003596', 'score': 0.23}]
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}]
chr1 GH01I003621 3621000 3621201 0.63 [{'connected_gene': 'ENSG00000238260', 'score': 0.77}, {'connected_gene': 'MEGF6', 'score': 0.77}, {'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'GC01M003596', 'score': 0.26}]
chr1 GH01I003502 3502000 3502201 0.59 [{'connected_gene': 'GC01M003505', 'score': 0.77}, {'connected_gene': 'ENSG00000272088', 'score': 0.39}, {'connected_gene': 'MEGF6', 'score': 0.13}]
chr1 GH01I003503 3503797 3505664 1.27 [{'connected_gene': 'GC01M003505', 'score': 550.77}, {'connected_gene': 'ENSG00000272088', 'score': 0.37}, {'connected_gene': 'MEGF6', 'score': 0.13}]

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