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
ENST00000372037 [[88516406, 88516676], [88598621, 88598736], [88635623, 88635842], [88649818, 88649981], [88651883, 88651986], [88659550, 88659647], [88659783, 88659883], [88671996, 88672141], [88676890, 88677083], [88678928, 88679226], [88681276, 88681452], [88683132, 88683263], [88683350, 88692595]] [[88635775, 88635842], [88649818, 88649981], [88651883, 88651986], [88659550, 88659647], [88659783, 88659883], [88671996, 88672141], [88676890, 88677083], [88678928, 88679226], [88681276, 88681452], [88683132, 88683263], [88683350, 88683476]]
ENST00000480152 [[88598695, 88598736], [88603162, 88603267], [88635623, 88635842], [88649818, 88649874]] None
NM_004329 [[88516395, 88516676], [88598621, 88598736], [88635623, 88635842], [88649818, 88649981], [88651883, 88651986], [88659550, 88659647], [88659783, 88659883], [88671996, 88672141], [88676890, 88677083], [88678928, 88679226], [88681276, 88681452], [88683132, 88683263], [88683350, 88684945]] [[88635775, 88635842], [88649818, 88649981], [88651883, 88651986], [88659550, 88659647], [88659783, 88659883], [88671996, 88672141], [88676890, 88677083], [88678928, 88679226], [88681276, 88681452], [88683132, 88683263], [88683350, 88683476]]
Promoter
Chrom Start End Description
chr10 88516282 88516301 CAGE_peak_3_at_BMPR1A_5end
chr10 88516341 88516391 CAGE_peak_1_at_BMPR1A_5end
chr10 88516396 88516426 CAGE_peak_2_at_BMPR1A_5end
chr10 88516519 88516533 CAGE_peak_5_at_BMPR1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I086770 86770564 86770713 0.38 [{'connected_gene': 'SNCG', 'score': 10.47}, {'connected_gene': 'MMRN2', 'score': 10.46}, {'connected_gene': 'ADIRF', 'score': 10.46}, {'connected_gene': 'BMPR1A', 'score': 0.39}, {'connected_gene': 'GC10M086750', 'score': 0.39}, {'connected_gene': 'GC10M086786', 'score': 0.37}]
chr10 GH10I086683 86683114 86689569 1.56 [{'connected_gene': 'BMPR1A', 'score': 8.09}, {'connected_gene': 'OPN4', 'score': 5.78}, {'connected_gene': 'LDB3', 'score': 0.37}, {'connected_gene': 'GC10M086714', 'score': 0.31}]
chr10 GH10I086795 86795004 86795948 0.92 [{'connected_gene': 'BMPR1A', 'score': 29.51}, {'connected_gene': 'OPN4', 'score': 6.75}, {'connected_gene': 'GC10M086786', 'score': 0.44}, {'connected_gene': 'RPAP2P1', 'score': 0.21}]
chr10 GH10I086741 86741714 86745542 0.43 [{'connected_gene': 'BMPR1A', 'score': 10.89}, {'connected_gene': 'MMRN2', 'score': 10.39}, {'connected_gene': 'ADIRF', 'score': 10.39}, {'connected_gene': 'SNCG', 'score': 10.05}, {'connected_gene': 'ENSG00000272631', 'score': 8.85}, {'connected_gene': 'GC10M086714', 'score': 0.31}]
chr10 GH10I086747 86747618 86748504 0.77 [{'connected_gene': 'BMPR1A', 'score': 13.35}, {'connected_gene': 'MMRN2', 'score': 10.39}, {'connected_gene': 'ADIRF', 'score': 10.39}, {'connected_gene': 'SNCG', 'score': 10.05}, {'connected_gene': 'ENSG00000272631', 'score': 8.22}, {'connected_gene': 'GC10M086714', 'score': 0.29}]
chr10 GH10I086870 86870359 86872273 0.76 [{'connected_gene': 'BMPR1A', 'score': 15.02}, {'connected_gene': 'NUTM2A-AS1', 'score': 4.61}, {'connected_gene': 'RPAP2P1', 'score': 0.39}, {'connected_gene': 'RNU1-19P', 'score': 0.37}]
chr10 GH10I086774 86774696 86776104 1.18 [{'connected_gene': 'BMPR1A', 'score': 10.11}, {'connected_gene': 'NUTM2A', 'score': 4.93}, {'connected_gene': 'GC10M086786', 'score': 0.39}, {'connected_gene': 'GC10M086750', 'score': 0.37}]
chr10 GH10I086851 86851242 86851896 0.46 [{'connected_gene': 'BMPR1A', 'score': 36.82}, {'connected_gene': 'SNCG', 'score': 10.24}, {'connected_gene': 'MMRN2', 'score': 10.22}, {'connected_gene': 'ADIRF', 'score': 10.22}, {'connected_gene': 'RPAP2P1', 'score': 0.77}, {'connected_gene': 'GC10M086786', 'score': 0.21}]
chr10 GH10I086917 86917763 86918959 0.54 [{'connected_gene': 'BMPR1A', 'score': 39.81}, {'connected_gene': 'SNCG', 'score': 11.05}, {'connected_gene': 'ADIRF', 'score': 11.03}, {'connected_gene': 'MMRN2', 'score': 11.02}, {'connected_gene': 'ENSG00000151303', 'score': 10.69}, {'connected_gene': 'BMS1P3', 'score': 4.71}, {'connected_gene': 'GC10P086921', 'score': 0.77}, {'connected_gene': 'GC10P086890', 'score': 0.31}]
chr10 GH10I086861 86861598 86869884 1.23 [{'connected_gene': 'BMPR1A', 'score': 36.7}, {'connected_gene': 'BMS1P3', 'score': 4.64}, {'connected_gene': 'NUTM2A-AS1', 'score': 4.63}, {'connected_gene': 'RPAP2P1', 'score': 0.44}, {'connected_gene': 'RNU1-19P', 'score': 0.34}]
chr10 GH10I086853 86853141 86853825 0.2 [{'connected_gene': 'BMPR1A', 'score': 27.78}, {'connected_gene': 'BMS1P3', 'score': 4.66}, {'connected_gene': 'NUTM2A-AS1', 'score': 4.29}, {'connected_gene': 'RPAP2P1', 'score': 0.77}, {'connected_gene': 'GC10M086786', 'score': 0.2}]
chr10 GH10I086798 86798413 86799838 0.87 [{'connected_gene': 'BMPR1A', 'score': 36.18}, {'connected_gene': 'GLUD1', 'score': 4.43}, {'connected_gene': 'GC10M086786', 'score': 0.39}, {'connected_gene': 'RPAP2P1', 'score': 0.22}]
chr10 GH10I086705 86705369 86707880 0.64 [{'connected_gene': 'BMPR1A', 'score': 12.21}, {'connected_gene': 'GC10M086714', 'score': 0.44}, {'connected_gene': 'LDB3', 'score': 0.28}]
chr10 GH10I086721 86721178 86721822 0.66 [{'connected_gene': 'BMPR1A', 'score': 8.96}, {'connected_gene': 'ENSG00000272631', 'score': 6.3}, {'connected_gene': 'GC10M086714', 'score': 0.44}, {'connected_gene': 'LDB3', 'score': 0.23}]
chr10 GH10I086731 86731281 86734898 0.86 [{'connected_gene': 'BMPR1A', 'score': 26.91}, {'connected_gene': 'ENSG00000272631', 'score': 6.25}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.2}]
chr10 GH10I086726 86726796 86728616 0.8 [{'connected_gene': 'BMPR1A', 'score': 24.25}, {'connected_gene': 'LDB3', 'score': 12.06}, {'connected_gene': 'GC10M086714', 'score': 0.39}]
chr10 GH10I086696 86696326 86697240 0.31 [{'connected_gene': 'BMPR1A', 'score': 6.49}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.29}]
chr10 GH10I086710 86710070 86713000 1.77 [{'connected_gene': 'BMPR1A', 'score': 8.85}, {'connected_gene': 'LDB3', 'score': 1.86}, {'connected_gene': 'GC10M086714', 'score': 0.77}]
chr10 GH10I086730 86730364 86730513 0.87 [{'connected_gene': 'BMPR1A', 'score': 18.6}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.21}]
chr10 GH10I086702 86702210 86703616 0.46 [{'connected_gene': 'BMPR1A', 'score': 12.19}, {'connected_gene': 'GC10M086714', 'score': 0.39}, {'connected_gene': 'LDB3', 'score': 0.28}]
chr10 GH10I086872 86872715 86873607 0.76 [{'connected_gene': 'BMPR1A', 'score': 6.74}, {'connected_gene': 'RNU1-19P', 'score': 0.37}, {'connected_gene': 'RPAP2P1', 'score': 0.37}]
chr10 GH10I086793 86793563 86794390 0.2 [{'connected_gene': 'BMPR1A', 'score': 11.76}, {'connected_gene': 'GC10M086786', 'score': 0.44}, {'connected_gene': 'RPAP2P1', 'score': 0.21}]
chr10 GH10I086823 86823265 86824453 0.49 [{'connected_gene': 'BMPR1A', 'score': 11.05}, {'connected_gene': 'ENSG00000272631', 'score': 4.87}, {'connected_gene': 'RPAP2P1', 'score': 0.29}, {'connected_gene': 'GC10M086786', 'score': 0.28}]
chr10 GH10I086840 86840644 86840793 0.38 [{'connected_gene': 'BMPR1A', 'score': 10.46}, {'connected_gene': 'RPAP2P1', 'score': 0.37}, {'connected_gene': 'GC10M086786', 'score': 0.23}]
chr10 GH10I086900 86900618 86901513 0.38 [{'connected_gene': 'BMPR1A', 'score': 39.94}, {'connected_gene': 'GC10P086890', 'score': 0.39}, {'connected_gene': 'GC10P086921', 'score': 0.34}]
chr10 GH10I086737 86737447 86741187 0.2 [{'connected_gene': 'BMPR1A', 'score': 10.9}, {'connected_gene': 'ENSG00000272631', 'score': 6.28}, {'connected_gene': 'GC10M086714', 'score': 0.34}]
chr10 GH10I086899 86899125 86899973 0.63 [{'connected_gene': 'BMPR1A', 'score': 19.15}, {'connected_gene': 'GC10P086890', 'score': 0.44}, {'connected_gene': 'GC10P086921', 'score': 0.34}]
chr10 GH10I086689 86689596 86693050 0.31 [{'connected_gene': 'FAM35A', 'score': 5.18}, {'connected_gene': 'BMPR1A', 'score': 4.84}, {'connected_gene': 'LDB3', 'score': 0.34}, {'connected_gene': 'GC10M086714', 'score': 0.34}]
chr10 GH10I087090 87090809 87096982 2.31 [{'connected_gene': 'FAM35A', 'score': 570.9}, {'connected_gene': 'GLUD1', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 36.57}, {'connected_gene': 'ENSG00000272631', 'score': 34.41}, {'connected_gene': 'WAPL', 'score': 24.98}, {'connected_gene': 'BMPR1A', 'score': 22.65}, {'connected_gene': 'CFL1P1', 'score': 20.56}, {'connected_gene': 'RPL11P3', 'score': 11.19}, {'connected_gene': 'ENSG00000227896', 'score': 10.93}, {'connected_gene': 'BMS1P3', 'score': 10.43}, {'connected_gene': 'ADIRF-AS1', 'score': 9.84}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'NUTM2A', 'score': 7.49}, {'connected_gene': 'GC10M087058', 'score': 0.29}]
chr10 GH10I086436 86436572 86443907 1.34 [{'connected_gene': 'RNU6-780P', 'score': 11.72}, {'connected_gene': 'ENSG00000227896', 'score': 11.46}, {'connected_gene': 'WAPL', 'score': 11.46}, {'connected_gene': 'LDB3', 'score': 6.39}, {'connected_gene': 'OPN4', 'score': 5.53}, {'connected_gene': 'BMPR1A', 'score': 4.71}, {'connected_gene': 'GC10P086443', 'score': 0.77}, {'connected_gene': 'GC10M086380', 'score': 0.22}]
chr10 GH10I086888 86888292 86889711 1.08 [{'connected_gene': 'RNU1-19P', 'score': 550.77}, {'connected_gene': 'GC10P086890', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 12.77}, {'connected_gene': 'BMS1P3', 'score': 5.32}, {'connected_gene': 'RPAP2P1', 'score': 0.29}]
chr10 GH10I086717 86717738 86719095 0.43 [{'connected_gene': 'NPAP1P3', 'score': 5.23}, {'connected_gene': 'GC10M086714', 'score': 0.77}, {'connected_gene': 'BMPR1A', 'score': 0.28}, {'connected_gene': 'LDB3', 'score': 0.23}]
chr10 GH10I086854 86854536 86858269 0.89 [{'connected_gene': 'RPAP2P1', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 28.2}, {'connected_gene': 'BMS1P3', 'score': 5.28}, {'connected_gene': 'NUTM2A-AS1', 'score': 4.29}, {'connected_gene': 'GC10M086786', 'score': 0.2}]
chr10 GH10I086829 86829982 86830593 0.2 [{'connected_gene': 'RPAP2P1', 'score': 0.31}, {'connected_gene': 'GC10M086786', 'score': 0.26}, {'connected_gene': 'BMPR1A', 'score': 0.19}]
chr10 GH10I086965 86965954 86973708 2.13 [{'connected_gene': 'ADIRF-AS1', 'score': 558.86}, {'connected_gene': 'ENSG00000273413', 'score': 550.77}, {'connected_gene': 'AGAP11', 'score': 550.77}, {'connected_gene': 'MMRN2', 'score': 550.77}, {'connected_gene': 'ADIRF', 'score': 550.77}, {'connected_gene': 'SNCG', 'score': 8.99}, {'connected_gene': 'ENSG00000261011', 'score': 8.24}, {'connected_gene': 'BMS1P3', 'score': 7.74}, {'connected_gene': 'BMPR1A', 'score': 4.94}, {'connected_gene': 'GRID1', 'score': 4.71}, {'connected_gene': 'LINC00863', 'score': 4.52}, {'connected_gene': 'NUTM2A', 'score': 4.25}, {'connected_gene': 'GC10P086949', 'score': 0.37}]
chr10 GH10I086922 86922226 86923418 0.46 [{'connected_gene': 'GC10P086921', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 27.34}, {'connected_gene': 'MMRN2', 'score': 11.52}, {'connected_gene': 'ADIRF', 'score': 11.52}, {'connected_gene': 'ENSG00000151303', 'score': 11.48}, {'connected_gene': 'ENSG00000281974', 'score': 0.31}]
chr10 GH10I086752 86752404 86759776 2.75 [{'connected_gene': 'ENSG00000272631', 'score': 578.45}, {'connected_gene': 'BMPR1A', 'score': 561.74}, {'connected_gene': 'GC10M086750', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 33.14}, {'connected_gene': 'NUTM2A-AS1', 'score': 22.45}, {'connected_gene': 'ENSG00000227896', 'score': 20.64}, {'connected_gene': 'FAM35A', 'score': 11.35}, {'connected_gene': 'GLUD1', 'score': 2.07}]
chr10 GH10I086714 86714694 86717406 0.46 [{'connected_gene': 'GC10M086714', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 5.99}, {'connected_gene': 'NPAP1P3', 'score': 5.2}, {'connected_gene': 'LDB3', 'score': 0.25}]
chr10 GH10I086802 86802064 86802213 0.2 [{'connected_gene': 'GC10M086786', 'score': 0.39}, {'connected_gene': 'BMPR1A', 'score': 0.25}, {'connected_gene': 'RPAP2P1', 'score': 0.23}]
chr10 GH10I086785 86785991 86786853 0.31 [{'connected_gene': 'GC10M086786', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 29.89}, {'connected_gene': 'GC10M086750', 'score': 0.31}]
chr10 GH10I087585 87585074 87587686 0.98 [{'connected_gene': 'ENSG00000272631', 'score': 59.44}, {'connected_gene': 'CFL1P1', 'score': 31.99}, {'connected_gene': 'NUTM2A', 'score': 22.87}, {'connected_gene': 'LINC00863', 'score': 21.87}, {'connected_gene': 'FAM35A', 'score': 21.82}, {'connected_gene': 'ATAD1', 'score': 12.99}, {'connected_gene': 'BMPR1A', 'score': 10.98}, {'connected_gene': 'BMS1P3', 'score': 10.3}, {'connected_gene': 'NUTM2A-AS1', 'score': 9.75}, {'connected_gene': 'GC10P087578', 'score': 0.44}, {'connected_gene': 'LOC105378412', 'score': 0.39}]
chr10 GH10I086815 86815001 86815600 0.4 [{'connected_gene': 'GC10M086786', 'score': 0.31}, {'connected_gene': 'RPAP2P1', 'score': 0.26}, {'connected_gene': 'BMPR1A', 'score': 0.22}]